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Lista de obras de Filippo Maria Santorelli

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

artículo científico publicado en 2005

'When atlastin meets spastin'

artículo científico publicado en 2014

A Child With Ichthyosis and Liver Failure.

artículo científico publicado en 2017

A Novel CAPN1 Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian Family

scientific article published on 05 June 2019

A Novel mtDNA Point Mutation in Maternally Inherited Cardiomyopathy ⬇️

artículo científico publicado el 15 de agosto de 1995

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

artículo científico publicado en 2018

A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design

artículo científico publicado en 2011

A double-blind cross-over trial of amantadine hydrochloride in Friedreich's ataxia

artículo científico publicado en 1993

A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy

artículo científico publicado en 2003

A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly

artículo científico publicado en 2020

A new ABCB11 mutation in two Italian children with familial intrahepatic cholestasis

artículo científico publicado en 2006

A new Italian FHM2 family: clinical aspects and functional analysis of the disease-associated mutation.

artículo científico publicado en 2011

A new POLG1 mutation with peo and severe axonal and demyelinating sensory–motor neuropathy

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

artículo científico publicado en 2010

A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy

artículo científico publicado en 2006

A new mtDNA-tRNA(Glu) mutation (14728T>C) presenting a late-onset mitochondrial encephalomyopathy

artículo científico publicado en 2007

A novel ATP1A2 mutation in a family with FHM type II

artículo científico publicado en 2006

A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia

article

A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy

artículo científico publicado en 2008

A novel SUCLA2 mutation in a Portuguese child associated with "mild" methylmalonic aciduria.

artículo científico publicado en 2014

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

artículo científico publicado en 2000

A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype.

artículo científico publicado en 2018

A novel locus for autosomal recessive spastic ataxia on chromosome 17p

artículo científico publicado en 2007

A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease.

artículo científico publicado en 2016

A novel mutation in SACS gene in a family from southern Italy

artículo científico publicado en 2004

A novel mutation in the SACS gene associated with a complicated form of spastic ataxia

artículo científico publicado en 2008

A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?

scientific article published on 12 April 2020

A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings

artículo científico publicado en 2016

About the "Pathological" role of the mtDNA T3308C mutationellipsis

artículo científico publicado en 1999

Acitretin-responsive ichthyosis in Chanarin-Dorfman syndrome with a novel mutation in the ABHD5/CGI-58 gene.

artículo científico publicado en 2013

Acute optic neuropathy associated with a novel MFN2 mutation

artículo científico publicado en 2015

Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking

scientific article published on 01 January 2020

Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy

artículo científico publicado en 2015

Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations

artículo científico publicado en 2014

Adult-onset familial laryngeal abductor paralysis, cerebellar ataxia, and pure motor neuropathy

artículo científico publicado en 2001

Alpha-1-antitrypsin deficiency: from genoma to liver disease. PiZ mouse as model for the development of liver pathology in human.

artículo científico publicado en 2014

Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia

artículo científico publicado en 2012

An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss

artículo científico publicado en 2008

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

artículo científico publicado en 2009

Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study

artículo científico publicado en 2006

Ataxia with oculomotor apraxia type 2: not always an easy diagnosis

artículo científico publicado en 2015

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

artículo científico publicado en 2014

Ataxia-myoclonus syndrome due to a novel homozygous ATP13A2 mutation

scientific article published on 07 June 2020

Atypical hereditary spastic paraplegia mimicking multiple sclerosis associated with a novel SPG11 mutation.

artículo científico publicado en 2014

Autism with seizures and intellectual disability: possible causative role of gain-of-function of the inwardly-rectifying K+ channel Kir4.1.

artículo científico publicado en 2011

Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening.

artículo científico publicado en 2014

Autophagic vacuolar myopathy caused by a CLN3 mutation. A case report

scientific article published on 22 November 2018

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in the Time of Next-Generation Sequencing ⬇️

artículo científico publicado el 1 de diciembre de 2012

Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene.

artículo científico publicado en 2003

Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations

artículo científico publicado en 2005

Autosomal dominant psychiatric disorders and mitochondrial DNA multiple deletions: Report of a family

artículo científico publicado en 2007

Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.

artículo científico publicado en 2005

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a family report from South Brazil.

artículo científico publicado en 2017

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: study of a family and review of the literature

artículo científico publicado en 2008

Awareness of rare and genetic neurological diseases among italian neurologist. A national survey

artículo científico publicado en 2020

Be aware of Wolfram syndrome when examining ataxic patients

artículo científico publicado en 2016

Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation inBICD2

artículo científico publicado en 2016

Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multi-system ataxic syndrome

artículo científico publicado en 2020

Brain imaging in Kufs disease type B: case reports.

artículo científico publicado en 2015

Bridging Over the Troubled Heterogeneity of SPG-Related Pathologies: Mechanisms Unite What Genetics Divide.

artículo científico publicado en 2014

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

article

CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis

artículo científico publicado en 2018

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

artículo científico publicado en 2007

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.

artículo científico publicado en 2017

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

article

Cellular and functional analysis of four mutations located in the mitochondrial ATPase6 gene

artículo científico publicado en 2009

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

artículo científico publicado en 2015

Cerebellar atrophy in congenital fibrosis of the extraocular muscles type 1.

artículo científico publicado en 2013

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

Cerebello-Cortical Alterations Linked to Cognitive and Social Problems in Patients With Spastic Paraplegia Type 7: A Preliminary Study

artículo científico publicado en 2020

Cerebellum and neuropsychiatric disorders: insights from ARSACS.

artículo científico publicado en 2013

Cerium oxide nanoparticles: the regenerative redox machine in bioenergetic imbalance

artículo científico publicado en 2016

Clinical and audiological follow up of a family with the 8363G>A mutation in the mitochondrial DNA.

artículo científico publicado en 2009

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

article

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

article

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.

artículo científico publicado en 2008

Clinical and molecular findings in four new patients harbouring the mtDNA 8993T>C mutation.

artículo científico publicado en 2001

Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

artículo científico publicado en 2001

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

artículo científico publicado en 2004

Clinical and molecular studies in three Portuguese mtDNA T8993G families

artículo científico publicado en 2000

Clinical and molecular studies in two new cases of ARSACS

scientific article published on 24 January 2019

Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review.

artículo científico publicado en 2018

Clinical and neuroimaging features of the m.10197G>A mtDNA mutation: New case reports and expansion of the phenotype variability

artículo científico publicado en 2019

Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis.

artículo científico publicado en 2017

Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation

artículo científico publicado en 1996

Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene.

artículo científico publicado en 2012

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

artículo científico publicado en 2016

Clinical, ultrastructural, and molecular studies in a patient with Kufs disease

artículo científico publicado en 2013

Clinico-genetic, imaging and molecular delineation of COQ8A-ataxia: a multicenter study of 59 patients

scientific article published on 26 April 2020

Cognitive profile in spastic paraplegia with thin corpus callosum and mutations in SPG11.

artículo científico publicado en 2010

Collapsing glomerulopathy associated with inherited mitochondrial injury

Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy

artículo científico publicado en 2014

Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.

artículo científico publicado en 2013

Comparative analysis of the pathogenic mechanisms associated with the G8363A and A8296G mutations in the mitochondrial tRNA(Lys) gene.

artículo científico publicado en 2005

Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome

artículo científico publicado en 1996

Comparative biochemical studies of ATPases in cells from patients with the T8993G or T8993C mitochondrial DNA mutations

artículo científico publicado en 1998

Complex multisystem phenotype associated with the mitochondrial DNA m.5522G>A mutation

scientific article published on 01 April 2019

Complex phenotype in an Italian family with a novel mutation in SPG3A.

artículo científico publicado en 2009

Concentric muscle involvement in POLG -related distal myopathy

scientific article published on 07 March 2017

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

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

Congenital myopathies: clinical phenotypes and new diagnostic tools

artículo científico publicado en 2017

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

artículo científico publicado en 2018

Cortical response to somatosensory stimulation in medication overuse headache patients is influenced by angiotensin converting enzyme (ACE) I/D genetic polymorphism

artículo científico publicado en 2012

Cross-Linked Enzyme Aggregates as Versatile Tool for Enzyme Delivery: Application to Polymeric Nanoparticles

artículo científico publicado en 2018

Current insights into familial spastic paraparesis: new advances in an old disease

artículo científico publicado en 2003

Customized multigene panels in epilepsy: the best things come in small packages

scientific article published on 13 December 2019

DNA end labelling (TUNEL) in a 3 year old girl with Leigh syndrome and prevalent cortical involvement.

artículo científico publicado en 2004

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

artículo científico publicado en 2012

De novo FTL mutation: a clinical, neuroimaging, and molecular study

artículo científico publicado en 2012

De novo mutations in SPG3A: a challenge in differential diagnosis and genetic counselling

scientific article published on 31 January 2015

Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15

artículo científico publicado en 2013

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

artículo científico publicado en 2018

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

artículo científico publicado en 2020

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

artículo científico publicado en 2019

Degenerative and acquired sporadic adult onset ataxia

scientific article published on 29 March 2019

Detection of deleted mitochondrial DNA in Kearns-Sayre syndrome using laser capture microdissection.

artículo científico publicado en 2003

Development of Nanostructured Lipid Carriers for the Delivery of Idebenone in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

artículo científico publicado en 2020

Diagnostic methods and emerging treatments for adult neuronal ceroid lipofuscinoses (Kufs disease)

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

artículo científico publicado en 2013

Distal motor neuropathy associated with novel EMILIN1 mutation

scientific article published on 21 January 2020

Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS.

artículo científico publicado en 2013

Docosahexaenoic acid in ARSACS: observations in two patients

artículo científico publicado en 2020

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

artículo científico publicado en 2016

Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation

artículo científico publicado en 2013

Drug consumption in medication overuse headache is influenced by brain-derived neurotrophic factor Val66Met polymorphism

artículo científico publicado en 2009

Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review

scientific article published on 28 September 2019

EEG and granular osmiophilic elements in early-onset Alzheimer's disease

artículo científico publicado en 2011

EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement

artículo científico publicado en 2013

Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD.

artículo científico publicado en 2016

Early onset cardiomyopathy associated with the mitochondrial tRNALeu((UUR)) 3271T>C MELAS mutation

artículo científico publicado en 2015

Early onset of diabetes mellitus associated with the mitochondrial DNA T14709C point mutation: patient report and literature review

artículo científico publicado en 1999

Early-onset optic neuropathy as initial clinical presentation in SPG7.

artículo científico publicado en 2014

Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop

artículo científico publicado en 2007

Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations

artículo científico publicado en 2013

Epilepsy, Behavioral Abnormalities, and Physiological Comorbidities in Syntaxin-Binding Protein 1 (STXBP1) Mutant Zebrafish.

artículo científico publicado en 2016

Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion

scholarly article published in Journal of Neurology

Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase

scientific article published on 01 June 2020

Evolution of Epileptiform Activity in Zebrafish by Statistical-Based Integration of Electrophysiology and 2-Photon Ca2+ Imaging

scientific article published on 21 March 2020

Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation.

artículo científico publicado en 2015

Expanding the clinical and genetic heterogeneity of SPAX5

artículo científico publicado en 2020

Expanding the clinical spectrum of POMT1 phenotype.

artículo científico publicado en 2006

Expansion of the genetic landscape of ERLIN2-related disorders

artículo científico publicado en 2020

Familial basilar migraine associated with a new mutation in the ATP1A2 gene

artículo científico publicado en 2005

Familial frontotemporal dementia with parkinsonism associated with the progranulin c.C1021T (p.Q341X) mutation

artículo científico publicado en 2010

Family-based association study of 5-HTTLPR, TPH, MAO-A, and DRD4 polymorphisms in mood disorders

artículo científico publicado en 2002

Fast Progression of Cerebellar Atrophy in PLA2G6-Associated Infantile Neuronal Axonal Dystrophy.

artículo científico publicado en 2017

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

artículo científico publicado en 2006

Fatal hypertrophic cardiomyopathy and nemaline myopathy associated with ACTA1 K336E mutation

artículo científico publicado en 2007

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

Fishing in the Cell Powerhouse: Zebrafish as A Tool for Exploration of Mitochondrial Defects Affecting the Nervous System.

artículo científico publicado en 2019

Friedreich's Ataxia Presenting as Isolated Spastic Paraparesis

artículo científico publicado en 2014

Friedreich's ataxia: oxidative stress and cytoskeletal abnormalities.

artículo científico publicado en 2009

Functional Transcriptome Analysis in ARSACS KO Cell Model Reveals a Role of Sacsin in Autophagy

scientific article published on 15 August 2019

Functional analysis of a novel RUNX2 missense mutation found in a family with cleidocranial dysplasia

artículo científico publicado en 2005

Functional assays in high-resolution clear native gels to quantify mitochondrial complexes in human biopsies and cell lines

artículo científico publicado en 2007

Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations

artículo científico publicado en 2008

Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy.

artículo científico publicado en 2016

Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, Finnish Variant

artículo científico publicado el 1 de junio de 2008

Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant

artículo científico publicado el 1 de junio de 2008

Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts

artículo científico publicado en 2003

Genetic heterogeneity of myoclonus epilepsy with ragged-red fibers syndrome

artículo científico publicado en 1998

Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype.

artículo científico publicado en 2014

Genotype-phenotype correlations in recessive titinopathies

artículo científico publicado en 2020

Glutathione in blood of patients with Friedreich's ataxia.

artículo científico publicado en 2001

HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation

scientific article published on 01 February 2006

Hand muscles corticomotor excitability in hereditary spastic paraparesis type 4

artículo científico publicado en 2014

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

artículo científico publicado en 2007

Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene

article

Hereditary spastic paraplegia type 11 with a very late onset

artículo científico publicado en 2015

Hereditary spastic paraplegia type 5: a potentially treatable disorder of cholesterol metabolism

scientific article published on 08 February 2014

Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56.

artículo científico publicado en 2016

Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms

artículo científico publicado en 2014

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

artículo científico publicado en 2013

Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation

scientific article published on 01 July 1997

Heterogeneous presentation in Leigh syndrome ⬇️

artículo científico publicado el 1 de septiembre de 1997

Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans

artículo científico publicado en 2015

High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia

artículo científico publicado en 2021

Human mitochondrial pyrophosphatase: cDNA cloning and analysis of the gene in patients with mtDNA depletion syndromes.

artículo científico publicado en 2005

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

Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome in adulthood: a rare recognizable condition

scientific article published on 18 December 2012

Hypertrophic cardiomyopathy and mtDNA depletion. Successful treatment with heart transplantation

artículo científico publicado en 2002

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

artículo científico publicado en 2006

Identification of a Novel Mutation in the mtDNA ND5 Gene Associated with MELAS ⬇️

artículo científico publicado el 18 de septiembre de 1997

Identification of a de novo mutation in SPG11.

artículo científico publicado en 2010

Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy

artículo científico publicado en 2007

Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome.

artículo científico publicado en 2013

Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families

artículo científico publicado en 2016

Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study

artículo científico publicado en 2009

Identification of seven novel mutations in ABCD1 by a DHPLC-based assay in Italian patients with X-linked adrenoleukodystrophy

artículo científico publicado en 2005

Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome

artículo científico publicado en 2008

Idiopathic pes cavus in adults is not associated with neurophysiological impairment in the lower limbs

artículo científico publicado en 2015

Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies

artículo científico publicado en 2020

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

artículo científico publicado en 2004

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 mitochondrial disorders

artículo científico publicado en 2007

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

artículo científico publicado en 2002

Infantile-onset ascending hereditary spastic paralysis: a case report and brief literature review

artículo científico

Infantile-onset disorders of mitochondrial replication and protein synthesis

artículo científico publicado en 2011

Influence of age, gender, height and education on vibration sense. A study by tuning fork in 192 normal subjects

artículo científico publicado en 1991

Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility.

artículo científico publicado en 2011

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

artículo científico publicado en 2018

Intrafamilial "DOA-plus" phenotype variability related to different OMI/HTRA2 expression

artículo científico publicado en 2019

Intrafamilial phenotype variation in Friedreich's disease: possible exceptions to diagnostic criteria

artículo científico publicado en 1991

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

artículo científico publicado en 2000

Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient

article

Involvement of the mitochondrial compartment in human NCL fibroblasts

artículo científico publicado en 2011

Is the ataxia of Charlevoix-Saguenay a developmental disease?

artículo científico publicado en 2011

Italian recommendations for diagnosis and management of congenital myasthenic syndromes

scientific article published on 15 December 2018

Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features

artículo científico publicado en 2019

Large deletion mutation of SPAST in a multi-generation family from Sardinia

artículo científico publicado en 2013

Late adult-onset adrenomyeloneuropathy evolving with atypical severe frontal lobe syndrome: Importance of neuroimaging

artículo científico publicado en 2018

Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement.

artículo científico publicado en 2017

Late onset recessive ataxia with Friedreich's disease phenotype

artículo científico publicado en 1989

Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity

artículo científico publicado en 2009

Leigh-like neuroimaging features associated with new biallelic mutations in OPA1.

artículo científico publicado en 2017

Leigh-type neuropathology in Pearson syndrome associated with impaired ATP production and a novel mtDNA deletion

artículo científico publicado en 1996

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

artículo científico publicado en 2013

Long period fiber grating nano-optrode for cancer biomarker detection

artículo científico publicado en 2016

Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52

artículo científico publicado en 2020

Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration

artículo científico publicado en 2017

Lysosomal Proteomics Links Disturbances in Lipid Homeostasis and Sphingolipid Metabolism to CLN5 Disease

artículo científico publicado en 2022

M.P.1.04 A novel mtDNA mutation in COIII impairs assembly of cytochrome c oxidase in a MELAS patient

MPV17: Fatal hepatocerebral presentation in a Brazilian infant

artículo científico publicado en 2012

MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form

artículo científico publicado en 2020

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

artículo científico publicado en 2016

Malignant pancreatic endocrine tumor in a child with tuberous sclerosis

artículo científico publicado en 2003

Management of Hereditary Spastic Paraplegia: A Systematic Review of the Literature

article

Maternally inherited Leigh syndrome

artículo científico publicado en 1993

Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation

artículo científico publicado en 1999

Maternally inherited cardiomyopathy: clinical and molecular characterization of a large kindred harboring the A4300G point mutation in mitochondrial deoxyribonucleic acid.

artículo científico publicado en 1999

Maternally inherited encephalopathy associated with a single‐base insertion in the mitochondrial tRNATrp gene ⬇️

artículo científico publicado el 1 de agosto de 1997

Maternally-inherited Leigh syndrome-related mutations bolster mitochondrial-mediated apoptosis

artículo científico publicado en 2004

Metabolic Ataxias in Adults

artículo científico publicado en 2014

Methylmalonic and propionic aciduria

artículo científico publicado en 2006

Migraine headache: a review of the molecular genetics of a common disorder

artículo científico publicado en 2012

Migraine-like disorder segregating with mtDNA 14484 Leber hereditary optic neuropathy mutation

artículo científico publicado en 2003

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

artículo científico publicado en 2002

Mitochondrial DNA analysis in ocular myopathy. Observations in 29 Portuguese patients.

artículo científico publicado en 1998

Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidism.

artículo científico publicado en 2006

Mitochondrial DNA haplogroups influence the therapeutic response to riboflavin in migraineurs.

artículo científico publicado en 2009

Mitochondrial DNA metabolism in early development of zebrafish (Danio rerio).

artículo científico publicado en 2012

Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28.

artículo científico publicado en 2016

Mitochondrial encephalomyopathy with coenzyme Q10 deficiency

scientific article published on 01 May 1997

Mitochondrial epilepsy: a cross-sectional nationwide Italian survey

artículo científico publicado en 2020

Mitochondrial myopathy and respiratory failure associated with a new mutation in the mitochondrial transfer ribonucleic acid glutamic acid gene

artículo científico publicado en 2003

Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene

artículo científico publicado en 2011

Mitochondrial myopathy mimicking fibromyalgia syndrome

scientific article published on 01 February 1999

Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family

scientific article published on 01 March 2001

Mitochondrial neurogastrointestinal encephalomyopathy: novel pathogenic mutations in thymidine phosphorylase gene in two Italian brothers

artículo científico publicado en 2012

Mitochondrial respiratory chain defects in skin fibroblasts from patients with Dravet syndrome.

artículo científico publicado en 2015

Mitochondrial tRNACys gene mutation (A5814G): a second family with mitochondrial encephalopathy

article

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review

artículo científico publicado en 2019

Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays

scientific article published on 27 August 2010

Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy

artículo científico publicado en 2013

Molecular genotype in migraine

artículo científico publicado en 2015

Molecular investigation of pediatric portuguese patients with sensorineural hearing loss.

artículo científico publicado en 2011

Molecular studies in Portuguese patients with Smith-Lemli-Opitz syndrome and report of three new mutations in DHCR7.

artículo científico publicado en 2005

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

artículo científico publicado en 2011

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions

artículo científico publicado en 2016

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

artículo científico publicado en 2014

Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations

artículo científico publicado en 2020

Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses

artículo científico publicado en 1998

Multiple mtDNA deletions: clinical and molecular correlations

scientific article published on 01 March 2000

Muscle MRI in TRPV4-related congenital distal SMA

artículo científico publicado en 2012

Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene

artículo científico publicado en 2015

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

article

Muscle pain in mitochondrial diseases: a picture from the Italian network

article

Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia

artículo científico publicado en 2015

Mutations in GMPPB Presenting with Pseudometabolic Myopathy.

artículo científico publicado en 2017

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

artículo científico publicado en 2009

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration

artículo científico publicado en 2007

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

artículo científico publicado en 2007

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

article published in 2011

Myoclonus epilepsy with ragged red fibers and multiple mtDNA deletions

artículo científico publicado en 1998

Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene.

artículo científico publicado en 2018

Myoclonus in mitochondrial disorders

artículo científico publicado en 2014

Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report

artículo científico publicado en 2016

Neuromuscular disorders in zebrafish: state of the art and future perspectives.

artículo científico

Neuronal Ceroid Lipofuscinosis: The Increasing Spectrum of an Old Disease

artículo científico publicado en 2014

Neuronal ceroid lipofuscinoses: many players, and more to come

Neuronal ceroid lipofuscinosis: an ultrastructural, genetic, and clinical study report

artículo científico publicado en 2001

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

artículo científico publicado en 2017

New AARS2 Mutations in Two Siblings With Tremor, Downbeat Nystagmus, and Primary Amenorrhea: A Benign Phenotype Without Leukoencephalopathy

scientific article published on 07 July 2020

New findings in the ataxia of Charlevoix-Saguenay

artículo científico publicado en 2011

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

article

Next-generation sequencing approach to hyperCKemia: A 2-year cohort study

scientific article published on 16 August 2019

Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome

artículo científico publicado en 2000

Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis

artículo científico publicado en 2006

Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type

artículo científico publicado en 2004

Novel SACS mutations in two unrelated Italian patients with spastic ataxia: clinico-diagnostic characterization and results of serial brain MRI studies.

artículo científico publicado en 2012

Novel SPAST deletion and reduced DPY30 expression in a Spastic Paraplegia type 4 kindred

artículo científico publicado en 2014

Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency

artículo científico publicado en 2013

Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development

artículo científico publicado en 2014

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

artículo científico publicado en 2016

Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings

scientific article published on 02 July 2019

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

artículo científico publicado en 2011

Novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected death

artículo científico publicado en 1996

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 SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism

scientific article published on 01 February 2011

Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2.

artículo científico publicado en 2013

Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI.

artículo científico publicado en 2017

Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia.

artículo científico publicado en 2013

NovelMTCYBmutation in a young patient with recurrent stroke-like episodes and status epilepticus

artículo científico publicado en 2014

O041. GRIA3 (glutamate receptor, ionotropic, ampa 3) gene polymorphism influences cortical response to somatosensory stimulation in medication-overuse headache (MOH) patients

artículo científico publicado en 2015

Of cognition and cerebellum in SCA48

artículo científico publicado en 2020

Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic Variant

scientific article published on 11 May 2020

Overt Hypogonadism May Not Be a Sentinel Sign of RING Finger Protein 216: Two Novel Mutations Associated with Ataxia, Chorea, and Fertility

artículo científico publicado en 2019

P.9.15 Centronuclear myopathies: The experience of Italian Network for congenital myopathies

article

P1.57 Neuropsychological profiles in children with Duchenne muscular dystrophy compared to dyslexic population

P3.2 Novel mutation of TRPV4 in congenital distal SMA with vocal cord paralysis

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 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.

artículo científico publicado en 2007

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

artículo científico publicado en 2006

Paternal isodisomy of chromosome 2 in a child with bile salt export pump deficiency

artículo científico publicado en 2012

Pathogenesis of the deafness-associated A1555G mitochondrial DNA mutation.

artículo científico publicado en 2002

Peroxisomal acyl-CoA-oxidase deficiency: two new cases

artículo científico publicado en 2008

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

article

Pharmacogenomics and medication overuse headache: when the cure may turn to poison

artículo científico publicado en 2009

Pharmacogenomics of episodic migraine: time has come for a step forward.

artículo científico

Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5.

artículo científico publicado en 2017

Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation

artículo científico publicado en 2005

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

artículo científico publicado en 2013

Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family

artículo científico publicado en 2016

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

Possible Involvement of the CACNA1E Gene in Migraine: A Search for Single Nucleotide Polymorphism in Different Clinical Phenotypes.

artículo científico publicado en 2017

Powerhouse failure and oxidative damage in autosomal recessive spastic ataxia of Charlevoix-Saguenay

artículo científico publicado en 2015

Predictors of survival in spinocerebellar ataxia type 2 population from Southern Italy

artículo científico publicado en 2018

Prenatal exclusion of cleidocranial dysplasia.

artículo científico publicado en 2003

Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy

artículo científico publicado en 2018

Prevalence of congenital muscular dystrophy in Italy: a population study

artículo científico publicado en 2015

Primary adrenal insufficiency in a child with a mitochondrial DNA deletion

artículo científico publicado en 1998

Proficiency testing of clinical microbiology laboratories using modified decontamination procedures for detection of nontuberculous mycobacteria in sputum samples from cystic fibrosis patients. The Nontuberculous Mycobacteria in Cystic Fibrosis Stud

artículo científico publicado en 1997

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

Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene

artículo científico publicado en 2003

Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders

scientific article published on 27 November 2018

Protein aggregates and autophagy involvement in a family with a mutation in Z-band alternatively spliced PDZ-motif protein

artículo científico publicado en 2020

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

artículo científico publicado en 2006

Proteomic and functional analyses in disease models reveal CLN5 protein involvement in mitochondrial dysfunction

scientific article published on 30 March 2020

Pseudo-dominant inheritance of a novel CTSF mutation associated with type B Kufs disease

artículo científico publicado en 2014

Pseudodominant inheritance of spastic ataxia of Charlevoix-Saguenay

artículo científico publicado en 2010

Rare phenotype of ALS4 associated with heterozygous missense mutation c.5842A > G/p.M1948V in helicase domain of SETX gene

scientific article published on 18 March 2020

Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency

artículo científico publicado en 2010

Reading impairment in Duchenne muscular dystrophy: A pilot study to investigate similarities and differences with developmental dyslexia.

artículo científico publicado en 2015

Redefining phenotypes associated with mitochondrial DNA single deletion

artículo científico publicado en 2015

Relapsing-Remitting Course of Cystic Leukoencephalopathy

Relative frequency of known causes of multiple mtDNA deletions: two novel POLG mutations

artículo científico publicado en 2011

Reply from the authors

artículo científico publicado en 2012

Reply to: Double trouble progressive external ophthalmoplegia and Huntington's disease.

artículo científico publicado en 2016

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

Response to the letter to the Editor regarding "Leigh-like neuroimaging features associated with new bi-allelic mutations in OPA1".

artículo científico publicado en 2017

Retinal degeneration.

artículo científico publicado en 2009

Retinal migraine as unusual feature of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

artículo científico publicado en 2004

Retinal nerve fiber hypertrophy in ataxia of Charlevoix-Saguenay patients ⬇️

artículo científico publicado el 13 de julio de 2011

Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype

artículo científico publicado en 2004

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

artículo científico publicado en 2007

Reversible Valproate-Induced Subacute Encephalopathy Associated With a MT-ATP8 Variant in the Mitochondrial Genome

scientific article published on 30 August 2018

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

artículo científico publicado en 2017

Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene

artículo científico publicado en 2009

S3.16 Molecular and functional characterization of new pathogenic mutations in mitochondrial ornithine and aspartate/glutamate transporters

artículo científico publicado en 2008

SCN11A variant as possible pain generator in sensory axonal neuropathy

artículo científico publicado en 2019

SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing.

artículo científico publicado en 2017

SPG3A: An additional family carrying a new atlastin mutation

artículo científico publicado en 2002

SPG8 mutations in Italian families: clinical data and literature review

artículo científico publicado en 2019

STUB1-Related Ataxias: A Challenging Diagnosis

scientific article published on 19 July 2020

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

artículo científico publicado en 2007

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

artículo científico publicado en 2009

Sensory ataxia as a prominent clinical presentation in three families with mutations in CYP7B1

artículo científico publicado en 2014

Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome ⬇️

artículo científico publicado el 1 de noviembre de 2001

Severe liver disease in early childhood due to fibrinogen storage and de novo gamma375Arg-->Trp gene mutation

scientific article published on 01 March 2006

Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia.

artículo científico publicado en 2003

Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy

scientific article published in 2006

Somatic overgrowth predisposes to seizures in autism spectrum disorders

artículo científico publicado en 2013

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

Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population

artículo científico publicado en 2008

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.

artículo científico publicado en 2007

Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations

artículo científico publicado en 2006

Spinocerebellar Ataxia Type 3 in Italy: Time to Change Mind

artículo científico publicado en 2016

Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families

scientific article published on 14 May 2019

Spinocerebellar ataxia type 10 in Peru: the missing link in the Amerindian origin of the disease.

artículo científico publicado en 2014

Spinocerebellar ataxia type 48: last but not least

scientific article published on 27 April 2020

Spinocerebellar ataxia type 48: last but not least

artículo científico publicado en 2020

Sporadic chronic progressive external ophthalmoplegia with single large mitochondrial DNA deletion and neurogenic findings

artículo científico publicado en 2017

Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI

scientific article published on 29 May 2011

Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene

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

Supercomplexes and subcomplexes of mitochondrial oxidative phosphorylation

artículo científico publicado en 2006

Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series.

artículo científico publicado en 2012

Swimming in Deep Water: Zebrafish Modeling of Complicated Forms of Hereditary Spastic Paraplegia and Spastic Ataxia

scientific article published on 10 December 2019

Syndromes associated with mitochondrial DNA depletion.

artículo científico publicado en 2014

TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement.

artículo científico publicado en 2016

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

artículo científico publicado en 2012

TRPV4 mutations in children with congenital distal spinal muscular atrophy

artículo científico publicado en 2012

TSEN54 mutation in a child with pontocerebellar hypoplasia type 1.

artículo científico publicado en 2011

Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly.

artículo científico publicado en 2015

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

article

Teaching NeuroImages: Leigh-like features expand the picture of PMPCA-related disorders

artículo científico publicado en 2019

Temporal lobe connects regression and macrocephaly to autism spectrum disorders

artículo científico publicado en 2015

The Extra-Virgin Olive Oil Polyphenols Oleocanthal and Oleacein Counteract Inflammation-Related Gene and miRNA Expression in Adipocytes by Attenuating NF-κB Activation

scientific article published on 21 November 2019

The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study

artículo científico publicado en 2020

The ND1 T3308C mutation may be a mtDNA polymorphism. Report of two Portuguese patients

artículo científico publicado en 1999

The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy

artículo científico publicado en 2007

The Networks of Genes Encoding Palmitoylated Proteins in Axonal and Synaptic Compartments Are Affected in PPT1 Overexpressing Neuronal-Like Cells

artículo científico publicado en 2017

The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.

artículo científico publicado en 2005

The Revolution in Migraine Genetics: From Aching Channels Disorders to a Next-Generation Medicine

artículo científico publicado en 2016

The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome

artículo científico publicado en 2001

The T9176G mutation of human mtDNA gives a fully assembled but inactive ATP synthase when modeled in Escherichia coli

scientific article published on 01 December 2000

The Val66Met polymorphism of the BDNF gene influences trigeminal pain-related evoked responses

artículo científico publicado en 2012

The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families

scientific article published on 01 November 2019

The features of the m.10197G>A mtDNA mutation

scientific article published on 04 April 2019

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

artículo científico publicado en 2016

The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center

scientific article published on 14 February 2019

The high prevalence of hereditary spastic paraplegia in Sardinia, insular Italy

artículo científico publicado en 2013

The interplay of two single nucleotide polymorphisms in the CACNA1A gene may contribute to migraine susceptibility

artículo científico publicado en 2009

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

artículo científico publicado en 2013

The metabotropic glutamate receptor 1, GRM1: evaluation as a candidate gene for inherited forms of cerebellar ataxia.

artículo científico publicado en 2009

The mitochondrial A3243G mutation presenting as severe cardiomyopathy ⬇️

artículo científico publicado el 1 de julio de 1997

The mitochondrial DNA A3243G mutation in Portugal: clinical and molecular studies in 5 families

artículo científico publicado en 1999

The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy

scientific article published on 01 August 1999

The relationship between anaerobic lactate threshold and plasma catecholamines during incremental exercise in hereditary spastic paraplegia.

artículo científico publicado en 2003

The upstream Variable Number Tandem Repeat polymorphism of the monoamine oxidase type A gene influences trigeminal pain-related evoked responses

article

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

artículo científico publicado en 2011

The wolframin His611Arg polymorphism influences medication overuse headache

scientific article published on 06 August 2007

Thickening of peripapillar retinal fibers for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay

artículo científico publicado en 2011

Topiramate-associated worsening symptoms in a patient with familial hemiplegic migraine

artículo científico publicado en 2008

Transcriptomic Profiling Discloses Molecular and Cellular Events Related to Neuronal Differentiation in SH-SY5Y Neuroblastoma Cells.

artículo científico publicado en 2016

Treatment of SPG5 with cholesterol-lowering drugs

scientific article published on 14 November 2015

Tumor Suppressor Role of hsa-miR-193a-3p and -5p in Cutaneous Melanoma

scientific article published on 27 August 2020

Two novel mutations in African and Asian children with progressive familial intrahepatic cholestasis type 3.

artículo científico publicado en 2011

Understanding Spreading Depression from Headache to Sudden Unexpected Death.

artículo científico publicado en 2018

VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype

artículo científico publicado en 2019

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

artículo científico publicado en 2006

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6

artículo científico publicado en 2009

Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations

artículo científico publicado en 2009

White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1.

artículo científico publicado en 2009

Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 Mutation.

artículo científico publicado en 2017

X-linked congenital ataxia: A clinical and genetic study

scientific article published on 01 May 2000

Z and Mmalton-1-antitrypsin deficiency-associated hepatocellular carcinoma: a genetic study

artículo científico publicado en 2009

ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis

scientific article published on 13 September 2018

mtDNA A3243G MELAS mutation is not associated with multigenerational female migraine

scientific article published on 01 February 2000

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