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Lista de obras de Gabriele Siciliano

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

artículo científico publicado en 2016

A Ser326Cys polymorphism in the DNA repair gene hOGG1 is not associated with sporadic Alzheimer's disease.

artículo científico publicado en 2006

A case of pelvic floor myoclonic jerk syndrome

artículo científico publicado en 1996

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2013

A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates.

artículo científico publicado en 2014

A new truncating MPZ mutation associated with a very mild CMT1 B phenotype

artículo científico publicado en 2010

A non-syndromic hearing loss caused by very low levels of the mtDNA A3243G mutation

artículo científico publicado en 2004

A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes.

artículo científico publicado en 2016

A novel mitochondrial tRNA(Ile) point mutation associated with chronic progressive external ophthalmoplegia and hyperCKemia

artículo científico publicado en 2010

A novel out-of-frame mutation in the neurofilament light chain gene (NEFL) does not result in Charcot-Marie-Tooth disease type 2E

scientific article published on 15 January 2005

A personal monitoring architecture to detect muscular fatigue in elderly

article

A pilot study evaluating the contribution of SLC19A1 (RFC-1) 80G>a polymorphism to Alzheimer's disease in Italian Caucasians

artículo científico publicado en 2014

A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score

artículo científico publicado en 2010

A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2009

APOE and Alzheimer disease: a major gene with semi-dominant inheritance

artículo científico publicado en 2011

Abnormal levels of human mitochondrial transcription factor A in skeletal muscle in mitochondrial encephalomyopathies

artículo científico publicado en 2000

Absence of angiogenic genes modification in Italian ALS patients

artículo científico publicado en 2008

Activity of protein phosphatase calcineurin is decreased in sporadic and familial amyotrophic lateral sclerosispatients

artículo científico publicado en 2004

Adapted physical activity and therapeutic exercise in late-onset Pompe disease (LOPD): a two-step rehabilitative approach

scientific article published on 07 December 2019

Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency

Altered surface myoelectric signals in peripheral vascular disease: correlations with muscle fiber composition

scientific article published on 01 February 1998

Alzheimer's pathogenesis and its link to the mitochondrion

artículo científico publicado en 2015

Amyotrophic Lateral Sclerosis: A Genetic Point of View.

artículo científico publicado en 2014

An "inflammatory" mitochondrial myopathy. A case report

artículo científico publicado en 2013

Antimyoclonic effect of levetiracetam in MERRF syndrome

artículo científico publicado en 2006

Antioxidant capacity and protein oxidation in cerebrospinal fluid of amyotrophic lateral sclerosis

artículo científico publicado en 2007

Association of maternal polymorphisms in folate metabolizing genes with chromosome damage and risk of Down syndrome offspring

artículo científico publicado en 2008

Association of the hOGG1 Ser326Cys polymorphism with sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2007

Association study between XRCC1 gene polymorphisms and sporadic amyotrophic lateral sclerosis

article

Autonomic, functional, skeletal muscle, and cardiac abnormalities are associated with increased ergoreflex sensitivity in mitochondrial disease

artículo científico publicado en 2017

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

artículo científico publicado en 2003

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

artículo científico publicado en 2007

Bilateral striatal necrosis, dystonia and multiple mitochondrial DNA deletions: Case study and effect of deep brain stimulation

artículo científico publicado en 2008

CMR-verified interstitial myocardial fibrosis as a marker of subclinical cardiac involvement in LMNA mutation carriers.

artículo científico publicado en 2013

CSF phosporylated TAU protein levels correlate with cerebral glucose metabolism assessed with PET in Alzheimer's disease

artículo científico publicado en 2008

Cardiac involvement in chronic progressive external ophthalmoplegia

artículo científico publicado en 2014

Cardiac magnetic resonance imaging and management of dilated cardiomyopathy in a Duchenne muscular dystrophy manifesting carrier

artículo científico publicado en 2009

Causative and susceptibility genes for Alzheimer's disease: a review.

artículo científico publicado en 2003

Central nervous system involvement in Anderson-Fabry disease: a clinical and MRI retrospective study

artículo científico publicado en 2008

Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families

article

Chronic inflammatory demyelinating polyradiculoneuropathy with cranial nerves hypertrophy, thyroid-related orbitopathy and IgG monoclonal gammopathy: a case report

artículo científico publicado en 2015

ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.

artículo científico publicado en 2015

Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I.

artículo científico publicado en 2005

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry

artículo científico publicado en 2016

Clock T3111C and Per2 C111G SNPs do not influence circadian rhythmicity in healthy Italian population

artículo científico publicado en 2010

Coenzyme Q10, exercise lactate and CTG trinucleotide expansion in myotonic dystrophy.

artículo científico publicado en 2001

Cognitive impairment and McArdle disease: Is there a link?

artículo científico publicado en 2011

Common Genetic Conditions of Ischemic Stroke to Keep in Mind.

artículo científico publicado en 2014

Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

artículo científico

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

artículo científico

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

artículo científico publicado en 2011

Consistent bone marrow-derived cell mobilization following repeated short courses of granulocyte-colony-stimulating factor in patients with amyotrophic lateral sclerosis: results from a multicenter prospective trial

artículo científico publicado en 2010

Cortical silent period in patients with amyotrophic lateral sclerosis

scientific article published on 01 October 1999

Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis?

artículo científico publicado en 2004

Creutzfeldt-Jakob disease with E200K PRNP mutation: a case report and revision of the literature.

artículo científico publicado en 2009

Cryoglobulinemic peripheral neuropathy: neurophysiologic evaluation in twenty-two patients

scientific article published on 01 January 1996

Cytogenetic damage in peripheral lymphocytes of mitochondrial disease patients

artículo científico publicado en 2000

D.P.1.02 A robust tool to quantify disability in patients affected by facioscapulohumeral muscular dystrophy

D90A-SOD1 mutation in ALS: The first report of heterozygous Italian patients and unusual findings

artículo científico publicado en 2010

DPP6 gene variability confers increased risk of developing sporadic amyotrophic lateral sclerosis in Italian patients

artículo científico publicado en 2008

Decreased platelet cytochrome c oxidase activity is accompanied by increased blood lactate concentration during exercise in patients with Alzheimer disease.

artículo científico publicado en 2003

Detection and quasispecies analysis of hepatitis C virus in the cerebrospinal fluid of infected patients

artículo científico publicado en 1999

Detection of anti-ganglioside antibodies in Guillain-Barré syndrome and its variants by the agglutination assay

scientific article published on 01 April 2002

Differential effects of alendronate and losartan therapy on osteopenia and aortic aneurysm in mice with severe Marfan syndrome

Disease awareness in myotonic dystrophy type 1: an observational cross-sectional study.

artículo científico publicado en 2016

Dissection and atherosclerosis of carotid arteries in the young: role of the apolipoprotein E polymorphism

artículo científico publicado en 2002

EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia

artículo científico publicado en 2010

EFNS review on the role of muscle biopsy in the investigation of myalgia.

artículo científico

Effects of aerobic training on exercise-related oxidative stress in mitochondrial myopathies.

artículo científico publicado en 2012

Effects of aerobic training on lactate and catecholaminergic exercise responses in mitochondrial myopathies

artículo científico publicado en 2000

Effects of anticholinergic agents on the excitability of the blink reflex in Meige syndrome

scientific article published on 01 January 1989

Effects of grating spatial orientation on visual evoked potentials and contrast sensitivity in multiple sclerosis

artículo científico publicado en 2001

Electrophysiological evaluation of genito-sphincteric dysfunction in multiple system atrophy

scientific article published on 01 October 2003

Encephalomyopathy with multiple mitochondrial DNA deletions and multiple symmetric lipomatosis: further evidence of a possible association

scientific article published on 01 December 1999

Epidemiology of dystrophinopathies in North-West Tuscany: a molecular genetics-based revisitation

artículo científico publicado en 1999

Epidemiology of myotonic dystrophy in Italy: re-apprisal after genetic diagnosis

article

Epilepsy and limb girdle muscular dystrophy type 2A: double trouble, serendipitous finding or new phenotype?

artículo científico publicado en 2006

Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion

scholarly article published in Journal of Neurology

Erratum: Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease

article

Erythropoietin in amyotrophic lateral sclerosis: a multicentre, randomised, double blind, placebo controlled, phase III study

artículo científico publicado en 2015

Evaluating the SERCA2 and VEGF mRNAs as Potential Molecular Biomarkers of the Onset and Progression in Huntington's Disease

artículo científico publicado en 2015

Evaluating the levels of interleukin-1 family cytokines in sporadic amyotrophic lateral sclerosis.

artículo científico publicado en 2014

Evaluation of cytogenetic and DNA damage in mitochondrial disease patients: effects of coenzyme Q10 therapy

artículo científico publicado en 2004

Evidence of the association of BIN1 and PICALM with the AD risk in contrasting European populations.

artículo científico publicado en 2011

Evidences of Reduced Antioxidant Activity in Patients With Chronic Migraine and Medication-Overuse Headache.

artículo científico publicado en 2015

Evoked potentials in the evaluation of patients with mitochondrial myopathy.

artículo científico publicado en 1993

Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM/DM-2).

artículo científico publicado en 2003

Extracellular Microfibrils Control Osteoblast-supported Osteoclastogenesis by Restricting TGFβ Stimulation of RANKL Production ⬇️

artículo científico publicado el 21 de agosto de 2010

Fabry disease with atypical neurological presentation: report of a case

scientific article published on 01 November 2012

Facioscapulohumeral Muscular Dystrophy Type 1A in Northwestern Tuscany: A Molecular Genetics-based Epidemiological and Genotype–Phenotype Study

article

Facioscapulohumeral muscular dystrophy: hearing loss and other atypical features of patients with large 4q35 deletions

artículo científico publicado en 2008

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

artículo científico

Fatigue is increased in episodic migraine without aura patients

artículo científico publicado en 2013

Fatigue, sleep-wake pattern, depressive and anxiety symptoms and body-mass index: analysis in a sample of episodic and chronic migraine patients.

artículo científico publicado en 2016

Folate, homocysteine, vitamin B12, and polymorphisms of genes participating in one-carbon metabolism in late-onset Alzheimer's disease patients and healthy controls

artículo científico publicado en 2011

From mild cognitive impairment to dementia: a prevalence study in a district of Tuscany, Italy.

artículo científico publicado en 2005

G.P.15.08 High genetic variability in European population: The FSHD complex puzzle

G.P.15.09 Unexpected high percentage of asymptomatic subjects carrying the FSHD molecular defect: Which factors contribute to the disease mechanism?

G41S SOD1 mutation: A common ancestor for six ALS Italian families with an aggressive phenotype

artículo científico publicado en 2010

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease

artículo científico publicado en 2014

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

artículo científico publicado en 2012

Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease

artículo científico publicado en 2012

Genotype-phenotype correlation in Pompe disease, a step forward.

artículo científico publicado en 2014

Gly482Ser PGC-1α Gene Polymorphism and Exercise-Related Oxidative Stress in Amyotrophic Lateral Sclerosis Patients.

artículo científico publicado en 2016

Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany

artículo científico publicado en 2014

High-Resolution 7T MR Imaging of the Motor Cortex in Amyotrophic Lateral Sclerosis

artículo científico publicado en 2015

Human dental pulp stem cells protect mouse dopaminergic neurons against MPP+ or rotenone

artículo científico publicado en 2010

Impact of ApoE Polymorphism and Physical Activity on Plasma Antioxidant Capability and Erythrocyte Membranes

scientific article published on 09 November 2019

Impaired oxidative metabolism and lipid peroxidation in exercising muscle from ALS patients

artículo científico publicado en 2002

Impaired oxidative metabolism in exercising muscle from ALS patients

artículo científico publicado en 2001

Implication of a Genetic Variant at PICALM in Alzheimer's Disease Patients and Centenarians

artículo científico publicado en 2011

Inferior rectus myositis: a rare cause of painful ophthalmoplegia and a therapeutic challenge

artículo científico publicado en 2012

Inflammatory myopathy in a patient with postural and kinetik tremor

artículo científico publicado en 2011

Is erythropoietin gene a modifier factor in amyotrophic lateral sclerosis?

artículo científico publicado en 2009

Italian validation of INQoL, a quality of life questionnaire for adults with muscle diseases

artículo científico publicado en 2010

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

artículo científico publicado en 2014

LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.

artículo científico publicado en 2015

Lack of association between mtDNA haplogroups and Alzheimer's disease in Tuscany

artículo científico publicado en 2007

Lack of association between the APEX1 Asp148Glu polymorphism and sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2010

Lactate production and catecholamine profile during aerobic exercise in normotensive OSAS patients

artículo científico publicado en 2004

Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

artículo científico publicado en 2013

Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy

artículo científico publicado en 2012

Levetiracetam-responsive myoclonus in spinocerebellar ataxia type 15.

artículo científico publicado en 2013

Limbic encephalitis associated with thymic cancer: a case report.

artículo científico publicado en 2001

Lithium in ALS: from the bench to the bedside

artículo científico publicado en 2008

Long-term treatment with idebenone and riboflavin in a patient with MELAS.

artículo científico publicado en 2000

Low frequency stimulation of the nucleus tegmenti pedunculopontini increases cortical metabolism in parkinsonian patients.

artículo científico publicado en 2010

MERRF syndrome without ragged-red fibers: the need for molecular diagnosis

artículo científico publicado en 2007

Methylation analysis of multiple genes in blood DNA of Alzheimer's disease and healthy individuals

artículo científico publicado en 2015

Minimally invasive approach for adrenal lesions: Systematic review of laparoscopic versus retroperitoneoscopic adrenalectomy and assessment of risk factors for complications.

artículo científico publicado en 2015

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

artículo científico publicado en 2002

Mitochondria, mitochondrial DNA and Alzheimer's disease. What comes first?

scientific article published on October 2008

Mitochondrial DNA haplogroups do not influence the Huntington's disease phenotype

artículo científico publicado en 2008

Mitochondrial DNA single deletion in a patient with postural tremor.

artículo científico publicado en 2008

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

article

Molecular characterization of myophosphorylase deficiency in a group of patients from northern Italy

artículo científico publicado en 1996

Molecular diagnosis in LGMD2A: mutation analysis or protein testing?

artículo científico publicado en 2004

Multi-center assessment of the Total Neuropathy Score for chemotherapy-induced peripheral neurotoxicity.

artículo científico publicado en 2006

Multiple mtDNA deletions: clinical and molecular correlations

scientific article published on 01 March 2000

Muscle exercise in limb girdle muscular dystrophies: pitfall and advantages.

artículo científico publicado en 2015

Muscle metabolic alterations assessed by 31-phosphorus magnetic resonance spectroscopy in mild Becker muscular dystrophy.

artículo científico publicado en 2011

Muscle modifications in Parkinson's disease: myoelectric manifestations

artículo científico publicado en 1996

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

article

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

article

Myoclonus in mitochondrial disorders

artículo científico publicado en 2014

Myokymic syndrome with impaired muscular relaxation: further evidence of a possible paraneoplastic genesis

scientific article published on 01 January 1990

Myophosphorylase deficiency affects muscle mitochondrial respiration as shown by 31P-MR spectroscopy in a case with associated multifocal encephalopathy

artículo científico publicado en 1995

Nerve and muscle involvement in mitochondrial disorders: an electrophysiological study

artículo científico publicado en 2011

Nerve, muscle and heart acute toxicity following oxaliplatin and capecitabine treatment

article

Neurohormonal modulation for treatment of cardiac involvement in dystrophinopathies and mitochondrial disease

artículo científico publicado en 2017

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

scientific article published on 16 August 2019

No major progranulin genetic variability contribution to disease etiopathogenesis in an ALS Italian cohort

artículo científico publicado en 2009

Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients

artículo científico publicado en 1994

Novel sarcoglycan gene mutations in a large cohort of Italian patients.

artículo científico publicado en 2003

Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia

article

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

artículo científico publicado en 2014

Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years.

artículo científico publicado en 2011

Ocular myopathy without ophthalmoplegia can be a form of mitochondrial myopathy

artículo científico publicado en 1992

Oxcarbazepine is effective and safe in the treatment of neuropathic pain: pooled analysis of seven clinical studies

artículo científico publicado en 2005

Oxidative DNA damage in peripheral leukocytes of mild cognitive impairment and AD patients

artículo científico publicado en 2005

Oxidative stress and APO E polymorphisms in Alzheimer's disease and in mild cognitive impairment.

artículo científico publicado en 2013

Oxidative stress biomarkers in mitochondrial myopathies, basally and after cysteine donor supplementation

artículo científico publicado en 2009

Oxidative stress biomarkers in patients with untreated obstructive sleep apnea syndrome

artículo científico publicado en 2012

Oxidative stress treatment for clinical trials in neurodegenerative diseases

artículo científico publicado en 2011

P041. Analysis of body mass index, psychiatric comorbidity, sleep-wake pattern and occurrence of fatigue in episodic and chronic migraine patients

artículo científico publicado en 2015

POLG1-related and other "mitochondrial Parkinsonisms": an overview.

artículo científico publicado en 2011

Pharmacogenetics of myotonic hNav1.4 sodium channel variants situated near the fast inactivation gate

artículo científico publicado en 2019

Phenotype modulators in myophosphorylase deficiency

artículo científico publicado en 2003

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

artículo científico publicado en 2013

Phenotypic manifestations associated with CAG-repeat expansion in the androgen receptor gene in male patients and heterozygous females: a clinical and molecular study of 30 families

artículo científico publicado en 2000

Plasmatic oxidative stress biomarkers in multiple sclerosis: relation with clinical and demographic characteristics

artículo científico publicado en 2014

Plastic changes in the spinal cord in motor neuron disease

artículo científico publicado en 2014

Platelet-rich plasma: the role in neural repair

artículo científico publicado en 2015

Pleiotropic effects of spastin on neurite growth depending on expression levels

artículo científico publicado en 2009

Polymorphisms in folate and homocysteine metabolizing genes and chromosome damage in mothers of Down syndrome children

scientific article published on 01 September 2007

Post-therapy normalization of brain FDG-PET in Morvan's syndrome.

artículo científico publicado en 2015

Potential involvement of ubiquinone in myotonic dystrophy pathophysiology: new diagnostic approaches for new rationale therapeutics

artículo científico publicado en 2000

Prevalent cardiac involvement in dystrophin Becker type mutation

artículo científico publicado en 1994

Prevalent cardiac phenotype resulting in heart transplantation in a novel LMNA gene duplication

artículo científico publicado en 2010

Prognostic factors in mild dystrophinopathies

artículo científico publicado en 1996

Progressive sensorineural hearing loss in childhood

artículo científico publicado en 1999

Psychiatric involvement in adult patients with mitochondrial disease ⬇️

artículo científico publicado el 23 de diciembre de 2011

Quality of life in adult patients with mitochondrial myopathy

artículo científico publicado en 2012

R1 responses of the trigeminofacial reflex in lesions extrinsic to the brain stem

scientific article published on 01 March 1984

Redefining phenotypes associated with mitochondrial DNA single deletion

artículo científico publicado en 2015

Relation between plasmatic and cerebrospinal fluid oxidative stress biomarkers and intrathecal Ig synthesis in Multiple Sclerosis patients

artículo científico publicado en 2015

Repeated courses of granulocyte colony-stimulating factor in amyotrophic lateral sclerosis: Clinical and biological results from a prospective multicenter study

scientific article published on 01 February 2011

Reply to: Nerve, muscle and heart acute toxicity following oxaliplatin and capecitabine treatment

artículo científico publicado en 2013

Respiratory chain defects in hereditary spastic paraplegias

article

Response

Response to levetiracetam or lamotrigine in subjects with Juvenile Myoclonic Epilepsy previously treated with valproic acid: A single center retrospective study

artículo científico publicado en 2021

Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes

artículo científico publicado en 2012

Risk of arrhythmia in type I myotonic dystrophy: the role of clinical and genetic variables

scientific article published on 22 February 2009

Robotic gait training improves motor skills and quality of life in hereditary spastic paraplegia.

artículo científico publicado en 2015

SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study

artículo científico publicado en 2005

Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia

artículo científico publicado en 2012

Searching for the role and the most suitable biomarkers of oxidative stress in Alzheimer's disease and in other neurodegenerative diseases

artículo científico publicado en 2005

Serotoninergic polymorphisms (5-HTTLPR and 5-HT2A): association studies with psychosis in Alzheimer disease.

artículo científico publicado en 2003

Structural and functional evaluation of cortical motor areas in Amyotrophic Lateral Sclerosis.

artículo científico publicado en 2011

Subclinical cardiac involvement in patients with facioscapulohumeral muscular dystrophy

artículo científico publicado en 2005

Subcutaneous immunoglobulin in CIDP and MMN: a different long-term clinical response?

artículo científico publicado en 2015

TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations.

artículo científico publicado en 2009

Tetracycline treatment in patients with progressive external ophthalmoplegia

artículo científico publicado en 2011

Thalidomide for improving cutaneous and pulmonary sarcoidosis in patients resistant or with contraindications to corticosteroids ⬇️

artículo científico publicado el 22 de marzo de 2012

The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer's disease: a meta-analysis study

artículo científico publicado en 2010

The empowerment of translational research: lessons from laminopathies.

artículo científico publicado en 2012

The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation

artículo científico publicado en 2008

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

artículo científico publicado en 2016

The genetics of ataxia: through the labyrinth of the Minotaur, looking for Ariadne's thread

artículo científico publicado en 2014

The hOGG1 Ser326Cys polymorphism is not associated with sporadic Parkinson's disease

artículo científico publicado en 2010

The indistinct borders between psychological motivation, self-esteem, stress response and pain underline this assumption

artículo científico publicado en 2012

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

artículo científico publicado en 2013

The mtDNA A8344G “MERRF” mutation is not a common cause of sporadic Parkinson disease in Italian population

article

The relationship of plasma catecholamine and lactate during anaerobic threshold exercise in mitochondrial myopathies

scientific article published on 01 October 1999

The translational repressor Cup associates with the adaptor protein Miranda and the mRNA carrier Staufen at multiple time-points during Drosophila oogenesis.

artículo científico publicado en 2008

Toxic myopathy induced by industrial minerals oils: clinical and histopathological features

artículo científico publicado en 1986

Transplanted human adipose tissue-derived stem cells engraft and induce regeneration in mice olfactory neuroepithelium in response to dichlobenil subministration

artículo científico publicado en 2014

Twinkle mutation in an Italian family with external progressive ophthalmoplegia and parkinsonism: a case report and an update on the state of art.

artículo científico publicado en 2013

Vaccination recommendations for patients with neuromuscular disease.

artículo científico publicado en 2014

Visual hallucinations in Parkinson's disease are not influenced by polymorphisms of serotonin 5-HT2A receptor and transporter genes.

artículo científico publicado en 2007

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