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Lista de obras de Enrico Bertini

"Bartter-like" phenotype in Kearns-Sayre syndrome.

artículo científico publicado en 2005

"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network

artículo científico publicado en 2016

'Behr syndrome' with OPA1 compound heterozygote mutations

artículo científico publicado en 2014

134th ENMC International Workshop: Outcome Measures and Treatment of Spinal Muscular Atrophy, 11-13 February 2005, Naarden, The Netherlands

artículo científico publicado en 2005

209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands

artículo científico publicado en 2015

24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy

artículo científico publicado en 2013

6 Minute walk test in Duchenne MD patients with different mutations: 12 month changes

artículo científico publicado en 2014

98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE. 26-28th October, 2001, Naarden, The Netherlands.

artículo científico publicado en 2002

A Novel Mutation (R271X) in the Myotubularin Gene Causes a Severe Miotubular Myopathy

article

A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia

artículo científico publicado en 2015

A V1143F mutation in the neuronal-enriched isoform 2 of the PMCA pump is linked with ataxia

artículo científico publicado en 2018

A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus

A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy

artículo científico publicado en 1999

A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing

artículo científico publicado en 2017

A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies

artículo científico publicado en 2013

A new form of alpha-dystroglycanopathy associated with severe drug-resistant epilepsy and unusual EEG features

artículo científico publicado en 2011

A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H

artículo científico publicado en 2010

A new multiplex method for the diagnosis of peroxisomal disorders allowing simultaneous determination of plasma very-long-chain fatty acids, phytanic, pristanic, docosahexaenoic and bile acids by high-performance liquid chromatography-atmospheric pr

artículo científico publicado en 2016

A new phenotypic variant in cleidocranial dysplasia (CCD) associated with mutation c.391C>T of the RUNX2 gene

artículo científico publicado en 2012

A new simple and rapid LC-ESI-MS/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann-Pick type C disease

artículo científico publicado en 2014

A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts

artículo científico publicado en 1994

A new therapeutic approach for X-linked adrenoleukodystrophy

artículo científico publicado en 1990

A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease

artículo científico

A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review

artículo científico publicado en 2016

A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect

artículo científico publicado en 2017

A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency

artículo científico publicado en 2000

A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen

article

A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis

artículo científico publicado en 2016

A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient.

artículo científico publicado en 1998

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.

artículo científico publicado en 2016

A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES).

artículo científico publicado en 2014

A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation

artículo científico publicado en 2002

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

artículo científico publicado en 2006

APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS

artículo científico publicado en 2019

ASTROCYTES: EMERGING STARS IN LEUKODYSTROPHY PATHOGENESIS.

artículo científico

ATP1A3-related epileptic encephalopathy responding to ketogenic diet.

artículo científico publicado en 2018

Actin glutathionylation increases in fibroblasts of patients with Friedreich's ataxia: a potential role in the pathogenesis of the disease

artículo científico publicado en 2003

Activating PIK3CA somatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity

artículo científico publicado en 2014

Acute myeloid leukemia in a 3 years old child with cleidocranial dysplasia

article

Acute quadriplegic myopathy in a 16-month-old child.

artículo científico publicado en 2005

Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies

artículo científico publicado en 2014

Aged induced pluripotent stem cell (iPSCs) as a new cellular model for studying premature aging

artículo científico publicado en 2017

Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers

artículo científico publicado en 1988

All glutathione forms are depleted in blood of obese and type 1 diabetic children

Alpha-actin gene mutations and polymorphisms in Italian patients with nemaline myopathy.

artículo científico publicado en 2004

Altered PLP1 splicing causes hypomyelination of early myelinating structures.

artículo científico publicado en 2015

Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency

artículo científico publicado en 2005

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

scientific article published in Nature

Analysis of glutathione: implication in redox and detoxification

artículo científico publicado en 2003

Antioxidant Amelioration of Riboflavin Transporter Deficiency in Motoneurons Derived from Patient-Specific Induced Pluripotent Stem Cells

artículo científico publicado en 2020

Antioxidant enzymes in blood of patients with Friedreich's ataxia.

artículo científico publicado en 2002

Assaying ATP synthesis in cultured cells: a valuable tool for the diagnosis of patients with mitochondrial disorders

artículo científico publicado en 2009

Assessing upper limb function in nonambulant SMA patients: Development of a new module

article

Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?

artículo científico publicado en 2014

Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype-genotype correlation.

artículo científico publicado en 2012

Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunit.

artículo científico publicado en 2003

Autophagy regulates satellite cell ability to regenerate normal and dystrophic muscles

artículo científico publicado en 2016

Autosomal recessive hypermyelinating neuropathy

artículo científico publicado en 1994

Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test. ⬇️

artículo científico publicado en 2015

Benign congenital hypotonia with uniform type 1 fibers and aspecific ultrastructural changes in the muscle: a case with esophagus involvement

artículo científico publicado en 1985

Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands

artículo científico publicado en 2002

Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands

artículo científico publicado en 2002

Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease

artículo científico publicado en 2021

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

scientific journal article

Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia

scientific article published on 01 June 2019

Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy

artículo científico publicado en 2017

Biopsy diagnosis of a case of adult onset orthochromatic leukodystrophy. Clinical and brain biopsy findings

artículo científico publicado en 1992

Blood malignancies presenting with mutations at equivalent residues in RUNX1–2 suggest a common leukemogenic pathway

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

article

Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study

artículo científico publicado en 2012

C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation

artículo científico publicado en 2012

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

artículo científico publicado en 2007

COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement

artículo científico publicado en 2007

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

artículo científico publicado en 2015

Cardiac and Pulmonary Investigations in Bethlem Myopathy

Cardiac function in types II and III spinal muscular atrophy: should we change standards of care?

artículo científico publicado en 2014

Cardiolipin content in mitochondria from cultured skin fibroblasts harboring mutations in the mitochondrial ATP6 gene

article

Cardiomyopathy and multicore myopathy with accumulation of intermediate filaments

scientific article published on 01 September 1990

Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.

artículo científico publicado en 2012

Carnitine in lactic acidosis

artículo científico publicado en 1988

Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

artículo científico publicado en 2015

Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort

artículo científico publicado en 2013

Cerebellar ataxia and coenzyme Q10 deficiency

artículo científico publicado en 2003

Cerebellar hypoplasia and brainstem thinning associated with severe white matter and basal ganglia abnormalities in a child with an mtDNA deletion

artículo científico publicado en 2011

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).

artículo científico publicado en 2008

Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-terminal domain: a case report

artículo científico publicado en 2013

Characterization of recessive RYR1 mutations in core myopathies

artículo científico publicado en 2006

Characterization of recessive RYR1 mutations in core myopathies

Characterizing PCDH19 in human induced pluripotent stem cells (iPSCs) and iPSC-derived developing neurons: emerging role of a protein involved in controlling polarity during neurogenesis.

artículo científico publicado en 2015

Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations.

artículo científico publicado en 2018

Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

scientific article published on 26 February 2014

Childhood spinal muscular atrophy: controversies and challenges

artículo científico

Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum

Christianson syndrome: spectrum of neuroimaging findings

artículo científico publicado en 2013

Clinical and Radiological Profile of patients with Spinal Muscular Atrophy type 4

artículo científico publicado en 2020

Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations

article

Clinical and genetic characterization of Chanarin–Dorfman syndrome

artículo científico publicado en 2008

Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum

article

Clinical and molecular findings in patients with giant axonal neuropathy (GAN)

artículo científico publicado en 2004

Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes

artículo científico publicado en 2008

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

artículo científico publicado en 2007

Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations

artículo científico publicado en 2015

Clinical factors as predictors of survival in spinal muscular atrophy type I

Clinical features, risk factors, and prognosis in transient global amnesia: a follow-up study

artículo científico publicado en 2005

Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).

artículo científico publicado en 2016

Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy

artículo científico publicado en 2019

CloudLines: compact display of event episodes in multiple time-series

artículo científico publicado en 2011

Cognitive, adaptive, and behavioral features in Joubert syndrome

artículo científico publicado en 2016

Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts

article

Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy

artículo científico publicado en 2002

Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis.

artículo científico publicado en 2018

Congenital muscular dystrophies with cognitive impairment. A population study.

artículo científico publicado en 2010

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study

artículo científico publicado en 2009

Congenital muscular dystrophies: a brief review

artículo científico publicado en 2011

Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome.

artículo científico publicado en 2000

Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy

article by Sonia Messina et al published 10 November 2009 in Neurology

Congenital myopathies

artículo científico publicado en 2008

Congenital myopathies: Rebuilding the natural history, one gene at a time

article

Congenital-onset spastic paraplegia in a patient with TUBB4A mutation and mild hypomyelination

artículo científico publicado en 2016

Consensus Statement for Standard of Care in Spinal Muscular Atrophy

artículo científico publicado en 2007

Consensus statement on standard of care for congenital muscular dystrophies

artículo científico publicado en 2010

Consensus statement on standard of care for congenital myopathies

artículo científico publicado en 2012

Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype

artículo científico publicado en 2012

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

artículo científico publicado en 2018

Correction to: Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia

artículo científico publicado en 2019

Correction: Long Term Natural History Data in Ambulant Boys with Duchenne Muscular Dystrophy: 36-Month Changes

artículo científico publicado en 2015

Corrigendum to "Response to: Mitochondrial neuropathy affects peripheral and cranial nerves and is primary or secondary or both" [Neuromuscular Disorders 26/8 (2016) 549].

artículo científico publicado en 2017

Current methodological issues in the study of children with inherited neuromuscular disorders

artículo científico publicado en 2008

Cyclosporine A in Ullrich congenital muscular dystrophy: long-term results

artículo científico publicado en 2011

Cystic leukoencephalopathy without megalencephaly: a distinct disease entity in 15 children.

artículo científico publicado en 2005

Cytoskeletal dynamics during in vitro neurogenesis of induced pluripotent stem cells (iPSCs).

artículo científico publicado en 2016

DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7.

artículo científico publicado en 2016

DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

artículo científico publicado en 2012

Daily salbutamol in young patients with SMA type II

artículo científico publicado en 2008

Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

artículo científico publicado en 2013

De novo LMNA mutations cause a new form of congenital muscular dystrophy

artículo científico publicado en 2008

De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation

artículo científico publicado en 2017

De novoα-actin mutations in monozygotic twins

artículo científico publicado en 2005

Deciphering the Tubulin Language: Molecular Determinants and Readout Mechanisms of the Tubulin Code in Neurons

artículo científico publicado en 2023

Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients

artículo científico publicado en 2004

Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy

artículo científico publicado en 2016

Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome

artículo científico publicado en 2018

Defective dendritic cell maturation in a child with nucleotide excision repair deficiency and CD4 lymphopenia.

artículo científico publicado en 2001

Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.

artículo científico publicado en 2018

Defects of RNA metabolism in the pathogenesis of spinal muscular atrophy

Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants

artículo científico publicado en 2019

Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study

artículo científico publicado en 2018

Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

artículo científico publicado en 2012

Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis

Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation

artículo científico publicado en 2003

Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy

article

Determination of glutathionyl-hemoglobin in human erythrocytes by cation-exchange high-performance liquid chromatography

artículo científico publicado en 2003

Determination of superoxide dismutase and glutathione peroxidase activities in blood of healthy pediatric subjects

artículo científico publicado en 2002

Developmental splicing deregulation in leukodystrophies related to EIF2B mutations

artículo científico publicado en 2012

Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

artículo científico publicado en 2017

Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics.

artículo científico publicado en 2017

Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements

artículo científico publicado en 2017

Diagnostic approach to the congenital muscular dystrophies

artículo científico publicado en 2014

Diffusion tensor imaging in SPG11- and SPG4-linked hereditary spastic paraplegia.

artículo científico publicado en 2013

Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB ⬇️

artículo científico publicado en 2015

Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: A variant of infantile spinal muscular atrophy

Distinguishing the four genetic causes of Jouberts syndrome-related disorders

artículo científico publicado en 2005

Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated α-dystroglycan.

artículo científico publicado en 2016

Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy.

artículo científico publicado en 2005

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy

artículo científico publicado en 2005

Duchenne muscular dystrophy and epilepsy.

artículo científico publicado en 2013

EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh Syndrome.

artículo científico publicado en 2012

Early neurodevelopmental assessment in Duchenne muscular dystrophy.

artículo científico publicado en 2013

Effect of protein glutathionylation on neuronal cytoskeleton: a potential link to neurodegeneration

artículo científico publicado en 2011

Effects of levosimendan on mitochondrial function in patients with septic shock: a randomized trial

artículo científico publicado en 2014

Effects on Collagen VI mRNA Stability and Microfibrillar Assembly of ThreeCOL6A2Mutations in Two Families with Ullrich Congenital Muscular Dystrophy

artículo científico publicado en 2002

Efficacy of miglustat in Niemann-Pick C disease: a single centre experience

artículo científico publicado en 2013

Empirical Studies in Information Visualization: Seven Scenarios

artículo científico publicado en 2011

Epilepsia partialis continua and neuronal migration anomalies

artículo científico publicado en 1992

Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations

artículo científico publicado en 2017

Erratum to: Muscle MRI in neutral lipid storage disease (NLSD).

artículo científico publicado en 2017

Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion

scholarly article published in Journal of Neurology

Erratum to: TMEM70 deficiency: long-term outcome of 48 patients

scientific article published on 01 May 2015

Erratum: Corrigendum: PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

scholarly article published in Nature Genetics

Estudio clínico y molecular en una familia con displasia cleidocraneal

scientific article published on 01 December 2017

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.

artículo científico publicado en 2013

Exon 45 skipping through U1-snRNA antisense molecules recovers the Dys-nNOS pathway and muscle differentiation in human DMD myoblasts

artículo científico publicado en 2012

Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience

artículo científico publicado en 2017

Expanding CEP290 mutational spectrum in ciliopathies

artículo científico publicado en 2009

Expanding the clinical phenotype of CAPN1- associated mutations: A new case with congenital-onset pure spastic paraplegia

artículo científico publicado en 2017

Expanding the clinical spectrum of POMT1 phenotype.

artículo científico publicado en 2006

Expanding the histopathological spectrum of CFL2-related myopathies.

artículo científico publicado en 2018

Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations

artículo científico publicado en 2013

Experience on therapy of adrenoleukodystrophy and adrenomyeloneuropathy.

artículo científico publicado en 1991

FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion

artículo científico publicado en 2011

Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations

Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects

artículo científico publicado en 2015

Familial severe myoclonic epilepsy of infancy: truncation of Nav1.1 and genetic heterogeneity

artículo científico publicado en 2003

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

artículo científico publicado en 2006

Fatal infantile leukodystrophy: a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27

Fatal infantile liver failure associated with mitochondrial DNA depletion

artículo científico publicado en 1992

Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases.

artículo científico

Feeding problems and malnutrition in spinal muscular atrophy type II

artículo científico publicado en 2008

Ferroptosis in Friedreich's Ataxia: A Metal-Induced Neurodegenerative Disease

artículo científico publicado en 2020

Fetal acetylcholine receptor inactivation syndrome and maternal myasthenia gravis: a case report

artículo científico publicado en 2012

Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?

Fibroblast autofluorescence in connective tissue disorders: a future tool for clinical and differential diagnosis?

artículo científico publicado en 2008

Frataxin deficiency leads to reduced expression and impaired translocation of NF-E2-related factor (Nrf2) in cultured motor neurons

artículo científico publicado en 2013

Frataxin silencing alters microtubule stability in motor neurons: implications for Friedreich's ataxia.

artículo científico publicado en 2016

Frataxin silencing inactivates mitochondrial Complex I in NSC34 motoneuronal cells and alters glutathione homeostasis

artículo científico publicado en 2014

Friedreich's ataxia: oxidative stress and cytoskeletal abnormalities.

artículo científico publicado en 2009

Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene

artículo científico publicado en 1998

Functional and Gait Assessment in Children and Adolescents Affected by Friedreich's Ataxia: A One-Year Longitudinal Study

artículo científico publicado en 2016

Functional and Morphological Improvement of Dystrophic Muscle by Interleukin 6 Receptor Blockade.

artículo científico publicado en 2015

Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study.

artículo científico publicado en 2011

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome ⬇️

artículo científico publicado en 2015

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings

artículo científico publicado en 2011

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.

artículo científico publicado en 2010

GSSG-mediated Complex I defect in isolated cardiac mitochondria.

artículo científico publicado en 2010

Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression

article

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

artículo científico publicado en 2012

Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts

artículo científico publicado en 2003

Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown-Vialetto disease that is partially rescued by riboflavin

artículo científico publicado en 2017

Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1

artículo científico publicado en 2004

Genotype-phenotype correlation in five Pelizaeus-Merzbacher disease patients with PLP1 gene duplications

article

Giant axonal neuropathy: report on a case with focal fiber loss

artículo científico publicado en 1992

Giant dystrophin deletion associated with congenital cataract and mild muscular dystrophy.

artículo científico publicado en 1998

Glutathione imbalance in patients with X-linked adrenoleukodystrophy ⬇️

artículo científico publicado el 22 de mayo de 2013

Glutathione in blood of patients with Friedreich's ataxia.

artículo científico publicado en 2001

Glutathione metabolism and antioxidant enzymes in children with Down syndrome

artículo científico publicado en 2003

Glutathione metabolism and antioxidant enzymes in patients affected by nonalcoholic steatohepatitis

artículo científico publicado en 2005

Glutathione metabolism in cobalamin deficiency type C (cblC).

artículo científico publicado en 2013

Glutathione: a redox signature in monitoring EPI-743 therapy in children with mitochondrial encephalomyopathies

artículo científico publicado en 2013

Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophies.

artículo científico publicado en 2006

HDAC inhibitors tune miRNAs in extracellular vesicles of dystrophic muscle-resident mesenchymal cells

artículo científico publicado en 2020

Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients

artículo científico publicado en 2014

Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study.

artículo científico publicado en 2016

Heart transplantation in a child with LGMD2I presenting as isolated dilated cardiomyopathy

artículo científico publicado en 2007

Hemimegalencephaly and Intractable Epilepsy: Benefits of Hemispherectomy

artículo científico publicado en 1989

Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation

scientific article published on 05 December 2019

Hereditary spastic paraplegias: one disease for many genes, and still counting.

artículo científico publicado en 2013

HiTSEE KNIME: a visualization tool for hit selection and analysis in high-throughput screening experiments for the KNIME platform

artículo científico publicado en 2012

High concentrations of H2O2 trigger hypertrophic cascade and phosphatase and tensin homologue (PTEN) glutathionylation in H9c2 cardiomyocytes

artículo científico publicado en 2016

High dose immunoglobulin IV treatment in adrenoleukodystrophy.

artículo científico publicado en 1994

Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy

artículo científico publicado en 2015

Histological effects of givinostat in boys with Duchenne muscular dystrophy

artículo científico publicado en 2016

Homozygosity mapping of Hallervorden-Spatz syndrome to chromosome 20p12.3-p13

artículo científico publicado en 1996

Human melanoma/NG2 chondroitin sulfate proteoglycan is expressed in the sarcolemma of postnatal human skeletal myofibers. Abnormal expression in merosin-negative and Duchenne muscular dystrophies

artículo científico publicado en 2003

HyperCKemia as the Only Sign of McArdle's Disease in a Child

article by Claudio Bruno et al published February 2000 in Journal of Child Neurology

Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria

artículo científico publicado en 2006

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.

artículo científico publicado en 2017

Hypomyelinating leukodystrophies: translational research progress and prospects

artículo científico publicado en 2014

Hypoparathyroidism in mitochondrial trifunctional protein deficiency

artículo científico publicado en 1996

ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins

artículo científico publicado en 2018

ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe-4S] proteins

artículo científico publicado en 2018

Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy

artículo científico publicado en 2009

Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies

artículo científico publicado en 2010

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.

artículo científico publicado en 2017

Identifying the dynamics of actin and tubulin polymerization in iPSCs and in iPSC-derived neurons.

artículo científico publicado en 2017

Immune-mediated rippling muscle disease and myasthenia gravis

artículo científico publicado en 2016

Immunodeficiency in Vici syndrome: A heterogeneous phenotype

Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy

artículo científico publicado en 2012

In vitro neurogenesis: development and functional implications of iPSC technology

artículo científico publicado en 2013

Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene

artículo científico publicado en 2004

Increased muscle expression of interleukin-17 in Duchenne muscular dystrophy.

artículo científico publicado en 2012

Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families

artículo científico publicado en 2003

Infantile childhood onset of spinocerebellar ataxia type 2.

artículo científico publicado en 2012

Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).

artículo científico publicado en 2003

Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene

artículo científico publicado en 2002

Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation

artículo científico publicado en 2010

Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family

artículo científico publicado en 2011

Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy

artículo científico publicado en 2017

Interferon-alpha may benefit steroid unresponsive chronic inflammatory demyelinating polyneuropathy

artículo científico publicado en 1995

Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation

artículo científico publicado en 2000

Involvement of respiratory muscles in cytoplasmic body myopathy — A pathological study—

artículo científico publicado en 1990

Iron-related MRI images in patients with pantothenate kinase-associated neurodegeneration (PKAN) treated with deferiprone: results of a phase II pilot trial

artículo científico publicado en 2011

Italian recommendations for diagnosis and management of congenital myasthenic syndromes

scientific article published on 15 December 2018

Joubert syndrome and related disorders

artículo científico publicado en 2013

Keloids, Spontaneous or After Minor Skin Injury: Importance of Not Missing Bethlem Myopathy

artículo científico publicado en 2016

LMNA-associated myopathies: the Italian experience in a large cohort of patients.

artículo científico publicado en 2014

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

artículo científico publicado en 2016

Late onset scleroatonic familial myopathy (Ullrich disease): A study of two sibs

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

artículo científico publicado en 2014

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations

artículo científico publicado en 2012

Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene

artículo científico publicado en 2013

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C

artículo científico publicado en 2015

Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes.

artículo científico publicado en 2014

Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53

artículo científico publicado en 2019

Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.

artículo científico publicado en 2015

Lyonization effects of the t(X;16) translocation on the phenotypic expression in a rare female with Menkes disease.

artículo científico publicado en 2009

MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy

artículo científico publicado en 2013

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

artículo científico publicado en 2009

MRI in sarcoglycanopathies: a large international cohort study.

artículo científico publicado en 2017

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

artículo científico publicado en 2016

Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene.

artículo científico publicado en 2005

Manifesting heterozygotes in McArdle's disease: clinical, morphological and biochemical studies in a family

artículo científico publicado en 1993

Mechanisms inducing low bone density in Duchenne muscular dystrophy in mice and humans

artículo científico publicado en 2011

Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations

artículo científico publicado en 2012

Megalencephalic leukoencephalopathy with subcortical cysts protein-1 modulates endosomal pH and protein trafficking in astrocytes: relevance to MLC disease pathogenesis

artículo científico publicado en 2014

Megalencephalic leukoencephalopathy with subcortical cysts protein-1 regulates epidermal growth factor receptor signaling in astrocytes

artículo científico publicado en 2016

Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide

artículo científico publicado en 2012

Merosin deficient congenital muscular dystrophy: Clinical, neuroimaging and immunohistochemical study of 8 Egyptian pediatric patients

Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations

artículo científico publicado en 2012

Metabolic neuropathies and myopathies

artículo científico

Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy.

artículo científico publicado en 2016

Microtubule Dysfunction: A Common Feature of Neurodegenerative Diseases

scientific article published on 05 October 2020

Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia

artículo científico publicado en 2002

Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia

artículo científico publicado en 2016

Mitochondria fingerprint longevity in iPSCs

artículo científico publicado en 2015

Mitochondrial Abnormalities in Induced Pluripotent Stem Cells-Derived Motor Neurons from Patients with Riboflavin Transporter Deficiency

artículo científico publicado en 2020

Mitochondrial DNA depletion syndrome presenting with ataxia and external ophthalmoplegia: Case report

Mitochondrial dysfunction in central nervous system white matter disorders

artículo científico publicado en 2014

Mitochondrial encephalomyopathies and related syndromes: brief review

artículo científico publicado en 2009

Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy

artículo científico publicado en 2013

Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations

artículo científico publicado en 2011

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies

artículo científico publicado en 2007

Monocytes and macrophages as biomarkers for the diagnosis of megalencephalic leukoencephalopathy with subcortical cysts

artículo científico publicado en 2013

Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies

article

Motor chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders

artículo científico publicado en 2011

Motor function-muscle strength relationship in spinal muscular atrophy

Motor neuron disease: A prospective natural history study of type 1 spinal muscular atrophy.

artículo científico publicado en 2018

Muscle MRI in neutral lipid storage disease (NLSD).

artículo científico publicado en 2017

Muscle imaging in fibrodysplasia ossificans progressiva: The neurologist's perspective

artículo científico publicado en 2015

Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1.

artículo científico publicado en 2015

Muscle magnetic resonance imaging and histopathology inACTA1-related congenital nemaline myopathy

article

Mutation analysis in 16 patients with mtDNA depletion.

artículo científico publicado en 2003

Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis

artículo científico publicado en 2012

Mutation ofCHRNA2in a family with benign familial infantile seizures: Potential role of nicotinic acetylcholine receptor in various phenotypes of epilepsy

artículo científico publicado en 2015

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

artículo científico publicado en 2012

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies

artículo científico publicado en 2014

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

artículo científico publicado en 2012

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

artículo científico publicado en 2014

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

artículo científico publicado en 2006

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing

article

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing

scientific article published on 18 June 2019

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

artículo científico publicado en 2013

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

artículo científico publicado en 2014

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

artículo científico publicado en 2009

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy

artículo científico publicado en 2013

Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.

artículo científico publicado en 2009

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

artículo científico publicado en 2007

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

artículo científico publicado en 2006

Mutations in structural genes of complex I associated with neurological diseases

artículo científico publicado en 2006

Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.

artículo científico publicado en 2016

Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center

artículo científico publicado en 1997

Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

artículo científico publicado en 2001

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

artículo científico publicado en 2009

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

artículo científico publicado en 1998

Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay

article published in 2011

Myoclonus in mitochondrial disorders

artículo científico publicado en 2014

Myopathy and hypertrophic cardiomyopathy with selective lysis of thick filaments

artículo científico publicado en 1993

Myosin as a potential redox-sensor: an in vitro study.

artículo científico publicado en 2008

Myotonic dystrophy and chromosome translocation segregating in the same family

artículo científico publicado en 1987

N-acetylaspartylglutamate (NAAG) in Pelizaeus-Merzbacher disease

artículo científico publicado en 2006

Natural history of pulmonary function in collagen VI-related myopathies

artículo científico publicado en 2013

Neonatal-onset nemaline myopathy mimicking congenital diaphragmatic hernia

Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association

artículo científico publicado en 2006

Neurodegeneration associated with genetic defects in phospholipase A(2).

artículo científico publicado en 2008

Neurological and Neuroimaging Features of CYB5R3-Related Recessive Hereditary Methemoglobinemia Type II

artículo científico publicado en 2022

Neuromyopathy and restrictive cardiomyopathy with accumulation of intermediate filaments: a clinical, morphological and biochemical study.

artículo científico publicado en 1991

Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants

artículo científico publicado en 2018

Neurophysiological abnormalities in adrenoleukodystrophy carriers. Evidence of different degrees of central nervous system involvement.

artículo científico publicado en 1997

Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients

artículo científico publicado en 2017

New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.

artículo científico publicado en 2016

New clinical and molecular insights on Barth syndrome

artículo científico publicado en 2013

New clinical phenotype of branched-chain acyl-CoA oxidation defect

artículo científico publicado en 1991

New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy, and complex I deficiency.

artículo científico publicado en 1997

Noninvasive ventilation in children with spinal muscular atrophy types 1 and 2.

artículo científico publicado en 2007

North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy

artículo científico publicado en 2010

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

artículo científico publicado en 2017

Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation.

artículo científico publicado en 2016

Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia

artículo científico publicado en 2018

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

artículo científico publicado en 2010

Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome

artículo científico publicado en 2007

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

artículo científico publicado en 2016

Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia

artículo científico publicado en 2018

Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathy

artículo científico publicado en 2011

Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34

article

Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation

artículo científico publicado en 2017

Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.

artículo científico publicado en 2006

Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes

artículo científico publicado en 2016

Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect.

artículo científico publicado en 2016

Nrf2-Inducers Counteract Neurodegeneration in Frataxin-Silenced Motor Neurons: Disclosing New Therapeutic Targets for Friedreich's Ataxia

artículo científico publicado en 2017

Old measures and new scores in spinal muscular atrophy patients

artículo científico publicado en 2015

Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia

artículo científico publicado en 2005

Oligophrenin-1 (OPHN1), a gene involved in X-linked intellectual disability, undergoes RNA editing and alternative splicing during human brain development

artículo científico publicado en 2014

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

artículo científico publicado en 2014

Orthopedic Management of Scoliosis by Garches Brace and Spinal Fusion in SMA Type 2 Children

artículo científico publicado en 2015

Oxidative Stress in DNA Repeat Expansion Disorders: A Focus on NRF2 Signaling Involvement

artículo científico publicado en 2020

Oxidative abnormalities in Menkes disease

artículo científico publicado en 2000

Oxidative stress in Duchenne muscular dystrophy: focus on the NRF2 redox pathway.

artículo científico publicado en 2017

P016. Congenital ataxia, hemiplegic migraine due to a novel mutation of CACNA1A: a case report

artículo científico

PCDH19-related epilepsy and Dravet Syndrome: Face-off between two early-onset epilepsies with fever sensitivity.

artículo científico publicado en 2016

PCDH19-related epilepsy in two mosaic male patients.

artículo científico publicado en 2016

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

artículo científico publicado en 2006

PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1.

artículo científico publicado en 2006

POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum

artículo científico publicado en 2006

POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.

artículo científico publicado en 2008

POMT2 mutation in a patient with 'MEB-like' phenotype.

artículo científico publicado en 2006

POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking

artículo científico publicado en 2015

PRRT2 is mutated in familial and non-familial benign infantile seizures

artículo científico publicado en 2012

PRRT2 mutation causes paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twins

article by Claudia Castiglioni et al published May 2013 in European Journal of Paediatric Neurology

Pathogenetic mechanisms in hereditary dysfunctions of complex I of the respiratory chain in neurological diseases

artículo científico publicado en 2009

Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials.

artículo científico publicado en 2015

Pediatric reference intervals for muscle coenzyme Q(10).

artículo científico publicado en 2012

Peripheral neuropathy with giant axons and cardiomyopathy associated with desmin type intermediate filaments in skeletal muscle

artículo científico publicado en 1992

Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency

scientific article published on 01 February 1992

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion

artículo científico publicado en 2008

Persistent pulmonary arterial hypertension in the newborn (PPHN): A frequent manifestation of TMEM70 defective patients

article

Phenotypic clustering of lamin A/C mutations in neuromuscular patients.

artículo científico publicado en 2007

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

artículo científico publicado en 2013

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders

artículo científico publicado en 2013

Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy

artículo científico publicado en 2004

Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients

artículo científico publicado en 2005

Phosphomannose Isomerase Deficiency: A Carbohydrate-Deficient Glycoprotein Syndrome with Hepatic-Intestinal Presentation ⬇️

artículo científico publicado el 1 de junio de 1998

Pilot trial of phenylbutyrate in spinal muscular atrophy

artículo científico publicado en 2004

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

artículo científico publicado en 2012

Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies

artículo científico publicado en 2010

Predictive energy equations for spinal muscular atrophy type I children

artículo científico publicado en 2020

Prenatal diagnosis of spinal muscular atrophy with respiratory distress (SMARD1) in a twin pregnancy

artículo científico publicado en 2004

Prenatal ultrasound and magnetic resonance imaging features in a fetus with Walker-Warburg syndrome

artículo científico publicado en 2009

Presymptomatic diagnosis of SMA III by genotype analysis

article published in 1993

Presymptomatic diagnosis of spinal muscular atrophy (SMA) III confirmed by deletion analysis of the survival motor neuron gene

article

Prevalence of congenital muscular dystrophy in Italy: a population study

artículo científico publicado en 2015

Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1

Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

article by C Dionisi Vici et al published May 1991 in The Journal of Pediatrics

Protein glutathionylation in cellular compartments: A constitutive redox signal

Protein glutathionylation in human central nervous system: potential role in redox regulation of neuronal defense against free radicals

artículo científico publicado en 2006

Protein glutathionylation increases in the liver of patients with non-alcoholic fatty liver disease

Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs

artículo científico publicado en 2015

Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review

artículo científico publicado en 2015

Quality metrics in high-dimensional data visualization: an overview and systematization

artículo científico publicado en 2011

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.

artículo científico publicado en 2008

RYR1 mutations are a common cause of congenital myopathies with central nuclei

artículo científico publicado en 2010

Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy

artículo científico publicado en 2007

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

artículo científico publicado en 2012

Redefining phenotypes associated with mitochondrial DNA single deletion

artículo científico publicado en 2015

Reduced steroidogenesis in patients with PCDH19-female limited epilepsy.

artículo científico publicado en 2017

Reducing body myopathy and desmin storage in skeletal muscle: morphological and biochemical findings

Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease

scientific article published on 18 January 2011

Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study

article

Reliability of the North Star Ambulatory Assessment in a multicentric setting.

artículo científico publicado en 2009

Reliability of the Performance of Upper Limb assessment in Duchenne muscular dystrophy.

artículo científico publicado en 2013

Remission in dihydroxyphenylalanine-responsive dystonia

article published in 1995

Renal involvement in mitochondrial cytopathies

artículo científico publicado en 2011

Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency

artículo científico publicado en 2012

Respiratory chain defects in hereditary spastic paraplegias

article

Respiratory complex I in brain development and genetic disease

artículo científico publicado en 2004

Respiratory-chain and pyruvate metabolism defects: Italian collaborative survey on 72 patients.

artículo científico publicado en 1996

Restriction in T-Cell Receptor Repertoire in a Patient Affected by Trichothiodystrophy and CD4+Lymphopenia

artículo científico publicado en 2002

Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.

artículo científico publicado en 2007

Revised North Star Ambulatory Assessment for Young Boys with Duchenne Muscular Dystrophy

artículo científico publicado en 2016

Revisiting mitochondrial ocular myopathies: a study from the Italian Network.

artículo científico publicado en 2017

Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of Function

artículo científico publicado en 2016

Rho-kinase signaling controls nucleocytoplasmic shuttling of class IIa histone deacetylase (HDAC7) and transcriptional activation of orphan nuclear receptor NR4A1.

artículo científico publicado en 2014

Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2

scholarly article by Rosalba Carrozzo published in September 2014

Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations

artículo científico publicado en 2012

Rituximab in a childhood-onset idiopathic refractory chronic inflammatory demyelinating polyneuropathy

artículo científico publicado en 2011

Robotic and clinical evaluation of upper limb motor performance in patients with Friedreich's Ataxia: an observational study.

artículo científico publicado en 2015

Role of gabapentin in spinal muscular atrophy: results of a multicenter, randomized Italian study

artículo científico publicado en 2003

SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR

artículo científico publicado en 2010

SSADH deficiency in an adult: Venturing outside of the diagnostic box and inside of the registry

artículo científico publicado en 2015

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness

artículo científico publicado en 2007

Sacral evoked reflex in children

Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial.

artículo científico publicado en 2017

Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design

artículo científico publicado en 2010

Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy

artículo científico publicado en 2003

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

artículo científico publicado en 2009

Senescence-associated ultrastructural features of long-term cultures of induced pluripotent stem cells (iPSCs).

artículo científico publicado en 2017

Serum uric acid in Friedreich Ataxia

artículo científico publicado en 2018

Simultaneous determination of ubiquinol and ubiquinone in skeletal muscle of pediatric patients

artículo científico publicado en 2005

Six minute walk test in type III spinal muscular atrophy: a 12month longitudinal study

artículo científico publicado en 2013

Sleep-disordered breathing in spinal muscular atrophy types 1 and 2.

artículo científico publicado en 2005

Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy

scientific article published in 2006

Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures

scientific article published on 27 September 2012

Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR.

artículo científico publicado en 2012

Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders

scientific article published on 22 July 2017

Sometimes they come back: new and old SMA adults in the era of nusinersen

artículo científico publicado en 2020

Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity

artículo científico publicado en 2006

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

artículo científico publicado en 2003

Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.

artículo científico publicado en 2011

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

artículo científico publicado en 2012

Spinal muscular atrophies: recent insights and impact on molecular diagnosis

artículo científico publicado en 1996

Spinal muscular atrophy

artículo científico publicado en 2011

Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1

artículo científico publicado en 2012

Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1.

artículo científico publicado en 2015

Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods

artículo científico publicado en 2016

Stem cells in severe infantile spinal muscular atrophy

artículo científico publicado en 2012

Subcomplexes of human ATP synthase mark mitochondrial biosynthesis disorders

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.

artículo científico publicado en 2015

Suitability of North Star Ambulatory Assessment in young boys with Duchenne muscular dystrophy

artículo científico publicado en 2014

Susceptibility of isolated myofibrils to in vitro glutathionylation: Potential relevance to muscle functions

artículo científico publicado en 2010

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

scientific journal article

TMEM70 deficiency: long-term outcome of 48 patients

artículo científico publicado en 2014

TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.

artículo científico publicado en 2012

TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics

artículo científico publicado en 2020

TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.

artículo científico publicado en 2015

The 6 minute walk test and performance of upper limb in ambulant duchenne muscular dystrophy boys

artículo científico publicado en 2014

The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): test development and reliability

artículo científico publicado en 2010

The Hammersmith functional score correlates with the SMN2 copy number: a multicentric study.

artículo científico publicado en 2007

The Potential of iPSCs for the Treatment of Premature Aging Disorders

artículo científico publicado en 2017

The cytoskeletal arrangements necessary to neurogenesis

artículo científico publicado en 2016

The empowerment of translational research: lessons from laminopathies.

artículo científico publicado en 2012

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

artículo científico publicado en 2006

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

artículo científico publicado en 2016

The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

artículo científico publicado en 2015

The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.

artículo científico publicado en 2018

The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy.

artículo científico publicado en 1997

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

artículo científico publicado en 2013

The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.

artículo científico publicado en 2017

The spectrum of the so-called rigid spine syndrome: nosological considerations and report of three female cases

artículo científico publicado en 1986

The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children.

artículo científico publicado en 2011

Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study

artículo científico publicado en 2016

Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; Report of three expert workshops: TREAT-NMD/ENMC Workshop on outcome measures, 12th–13th May 2007, Naarden, The Netherlands; TREAT-NMD Workshop on outcome measures in exper

article published in 2008

Transcriptional behavior of DMD gene duplications in DMD/BMD males

artículo científico publicado en 2009

Two novel missense mutations causing adrenoleukodystrophy in Italian patients

article

Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes.

artículo científico publicado en 2005

UFM1 founder mutation in the Roma population causes recessive variant of H-ABC.

artículo científico publicado en 2017

Ullrich myopathy phenotype with secondary ColVI defect identified by confocal imaging and electron microscopy analysis

artículo científico publicado en 2007

Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI

artículo científico publicado en 2001

Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1.

artículo científico publicado en 2016

Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease

artículo científico publicado en 2003

Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1.

artículo científico publicado en 2006

X-linked congenital ataxia: A new locus maps to Xq25-q27.1

article

X-linked disorders with cerebellar dysgenesis ⬇️

artículo científico publicado en 2011

Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations

artículo científico publicado en 2012

hGFRalpha-4: a new member of the GDNF receptor family and a candidate for NBIA.

artículo científico publicado en 2001

miRNAs as serum biomarkers for Duchenne muscular dystrophy

artículo científico publicado en 2011

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