Lista de obras - Massimiliano Filosto - Dominio Público Uruguay

A Multicentric Prospective Incidence Study of Guillain-Barré Syndrome in Italy. The ITANG Study

artículo científico publicado en 2015

A Novel Mutation in Motor Domain of KIF5A Associated With an HSP/Axonal Neuropathy Phenotype

scientific article published on 01 March 2015

A Novel Mutation in the Stalk Domain of Causes a Slowly Progressive Atypical Motor Syndrome

artículo científico publicado en 2018

A PCR-based protocol to accurately size C9orf72 intermediate-length alleles

artículo científico publicado en 2016

A complex craniovertebral junction malformation in a patient with late onset glycogenosis 2.

artículo científico publicado en 2014

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 high-dose bortezomib neuropathy with sensory ataxia and myelin involvement

scientific article published on 05 July 2007

A mitochondrial DNA duplication as a marker of skeletal muscle specific mutations in the mitochondrial genome

artículo científico publicado en 2004

A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia

artículo científico publicado en 2001

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

artículo científico publicado en 2004

A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions.

artículo científico publicado en 2017

A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes.

artículo científico publicado en 2016

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 polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism

artículo científico publicado en 2004

A screening for superoxide dismutase-1 D90A mutation in Italian patients with sporadic amyotrophic lateral sclerosis

artículo científico publicado en 2002

A very slowly progressive neurogenic 'man-in-the-barrel' syndrome.

artículo científico publicado en 2015

ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study.

artículo científico publicado en 2016

Advances in Quantitative Imaging of Genetic and Acquired Myopathies: Clinical Applications and Perspectives

artículo científico publicado en 2019

Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy

artículo científico publicado en 2015

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 agents have a different expression pattern in muscle fibers of patients with mitochondrial diseases

artículo científico publicado en 2001

Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group

article

Atypical CIDP: diagnostic criteria, progression and treatment response. Data from the Italian CIDP Database

article

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

artículo científico publicado en 2007

Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript

artículo científico publicado en 2016

C9orf72 Intermediate Alleles in Patients with Amyotrophic Lateral Sclerosis, Systemic Lupus Erythematosus, and Rheumatoid Arthritis

artículo científico publicado en 2019

Central-peripheral sensory axonopathy in a juvenile case of Alpers-Huttenlocher disease

artículo científico publicado en 2003

Changing Characteristics of Late-Onset Pompe Disease Patients in Italy: Data from the Pompe Registry

artículo científico publicado en 2015

Choreo-athetosis in LRRK2 R1441C mutation: expanding the clinical phenotype

artículo científico publicado en 2013

Chronic ophthalmoparesis in limb girdle muscular dystrophy 1C.

artículo científico publicado en 2009

Clinical Spectrum and Evolution of Monoclonal Gammopathy-associated Neuropathy

artículo científico publicado en 2012

Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement

artículo científico publicado en 2013

Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma

artículo científico publicado en 2003

Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia.

artículo científico publicado en 2017

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

Cortico-spinal tDCS in ALS: A randomized, double-blind, sham-controlled trial

scientific article published on 08 June 2019

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

artículo científico publicado en 2004

Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy

artículo científico publicado en 2012

Critical illness myopathy

artículo científico publicado en 2012

Current options in the treatment of mitochondrial diseases.

artículo científico publicado en 2010

Cutis verticis gyrata, mental retardation and Lennox-Gastaut syndrome: a case report

artículo científico publicado en 2001

Decreased Levels of Foldase and Chaperone Proteins Are Associated with an Early-Onset Amyotrophic Lateral Sclerosis.

artículo científico publicado en 2017

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

Dermatomyositis and retroperitoneal germ cell cancer

artículo científico publicado en 2001

Disulfiram neuropathy: Two cases of distal axonopathy

artículo científico publicado en 2008

Drugs and mitochondrial diseases: 40 queries and answers.

artículo científico

Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).

artículo científico publicado en 2017

Electron transfer mediators and other metabolites and cofactors in the treatment of mitochondrial dysfunction.

artículo científico publicado en 2009

Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial

scientific article published on 24 July 2019

Evaluation of muscle biopsy in late-onset GSDII patients before and after enzyme replacement therapy (ERT).

artículo científico publicado en 2013

Exercise Combined with Electrotherapy Enhances Motor Function in an Adolescent with Spinal Muscular Atrophy Type III

artículo científico publicado en 2019

Exploring Olfactory Function and Its Relation with Behavioral and Cognitive Impairment in Amyotrophic Lateral Sclerosis Patients: A Cross-Sectional Study

artículo científico publicado en 2016

Expression of late myogenic differentiation markers in sarcoplasmic masses of patients with myotonic dystrophy

scientific article published on 01 February 2005

Expression of protein kinase C isoforms and interleukin-1beta in myofibrillar myopathy

artículo científico publicado en 2004

Extrapyramidal and cognitive signs in amyotrophic lateral sclerosis: A population based cross-sectional study.

artículo científico publicado en 2015

Eyelid ptosis from sympathetic nerve dysfunction mistaken as myopathy: a simple test to identify this condition

artículo científico publicado en 2007

Features of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease).

artículo científico publicado en 2003

Frequency of diabetes and other comorbidities in chronic inflammatory demyelinating polyradiculoneuropathy and their impact on clinical presentation and response to therapy

scientific article published on 31 August 2020

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Guillain-Barré syndrome and COVID-19: an observational multicentre study from two Italian hotspot regions

artículo científico publicado en 2020

Hemangioma of the semimembranosus muscle in a patient with late-onset glycogenosis II.

artículo científico publicado en 2012

Human leukocyte antigens class II in CIDP spectrum neuropathies

scientific article published on 23 October 2019

Human skeletal muscle as a target organ of trichloroethylene toxicity

artículo científico publicado en 2005

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

scientific article published on 18 December 2012

I-4Long-term follow-up effects on enzymereplacement treatment of adult form of acid maltase deficiency myopathy.

artículo científico publicado en 2011

Idiopathic hypocomplementemic urticarial vasculitis-linked neuropathy

artículo científico publicado en 2009

Increased expression of the normal cellular isoform of prion protein in inclusion-body myositis, inflammatory myopathies and denervation atrophy

artículo científico publicado en 2001

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

artículo científico publicado en 2005

Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies

artículo científico publicado en 2020

Involvement of the central nervous system myelin in a POEMS patient

scientific article published on 05 November 2010

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

artículo científico publicado en 2015

Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies

artículo científico publicado en 2003

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

artículo científico publicado en 2013

Late and Severe Myopathy in a Patient With Glycogenosis VII Worsened by Cyclosporine and Amiodarone

artículo científico publicado en 2019

Late-Onset Glycogen Storage Disease Type 2.

artículo científico publicado en 2014

Limb-girdle muscular dystrophy-associated protein diseases

artículo científico publicado en 2010

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

artículo científico publicado en 2007

MR Neurography in Diagnosing Nondiabetic Lumbosacral Radiculoplexus Neuropathy

artículo científico publicado en 2013

May "mitochondrial eve" and mitochondrial haplogroups play a role in neurodegeneration and Alzheimer's disease?

artículo científico publicado en 2011

McArdle disease and sporadic inclusion body myositis.

artículo científico publicado en 2009

McArdle disease: the mutation spectrum of PYGM in a large Italian cohort

scientific article published on 01 July 2006

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

artículo científico publicado en 2008

Mitochondrial DNA sequence variation and neurodegeneration

artículo científico publicado en 2008

Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE-MTDPS1)

artículo científico publicado en 2018

Mitochondrial Sensorineural Hearing Loss: A Retrospective Study and a Description of Cochlear Implantation in a MELAS Patient

artículo científico publicado en 2012

Mitochondrial diseases: a nosological update.

artículo científico publicado en 2007

Mitochondrial diseases: advances and issues.

artículo científico publicado en 2017

Mitochondrial dysfunction and Alzheimer's disease: new developments.

artículo científico publicado en 2006

Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene

artículo científico publicado en 2003

Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene

artículo científico publicado en 2003

Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants

scientific article published on 03 March 2020

Muscle biopsy displaying "double trouble" pathology: Combined features of periodic paralysis and dermatomyositis

artículo científico publicado en 2018

Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes

artículo científico publicado en 2003

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

article

Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis

artículo científico publicado en 2013

Myoclonus in mitochondrial disorders

artículo científico publicado en 2014

Myopathic involvement and mitochondrial pathology in Kennedy disease and in other motor neuron diseases.

artículo científico

New motor outcome function measures in evaluation of late-onset Pompe disease before and after enzyme replacement therapy

artículo científico publicado en 2012

Non-muscle involvement in late-onset glycogenosis II.

artículo científico publicado en 2013

Novel mitochondrial tRNALeu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype

scientific article published on 14 March 2008

Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3

scientific article published on 11 September 2020

O-3Clinical features and outcome measures during1 year enzyme replacement therapy in late onset GSD II patients.

artículo científico publicado en 2011

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

artículo científico publicado en 2011

P-14Multiple acyl-coa dehydrogenase deficiency:a possibly treatable condition.

artículo científico publicado en 2011

P301L Tau mutation and non-Alzheimer dementias in Italy

artículo científico publicado en 2003

POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness

artículo científico publicado en 2004

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

artículo científico publicado en 2013

Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy.

artículo científico publicado en 2011

Plasma amino acids patterns and age of onset of amyotrophic lateral sclerosis

scientific article published on 06 June 2014

Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis.

artículo científico publicado en 2012

Prevalence of Asymptomatic Vertebral Fractures in Late-Onset Pompe Disease.

artículo científico publicado en 2015

Primary mitochondrial myopathy: Clinical features and outcome measures in 118 cases from Italy

scientific article published on 20 October 2020

Progress in Enzyme Replacement Therapy in Glycogen Storage Disease Type II

artículo científico publicado en 2009

Progressive external ophthalmoplegia: a new family with tremor and peripheral neuropathy

artículo científico publicado en 2005

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

artículo científico publicado en 2016

Reversible upper limb muscle weakness with selective loss of thick filaments

artículo científico publicado en 2003

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

artículo científico publicado en 2017

Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency with unknown genetic defect

artículo científico publicado en 2011

Risk factors for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP): antecedent events, lifestyle and dietary habits. Data from the Italian CIDP Database

scientific article published on 09 August 2019

Safety and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase in Mitochondrial Neurogastrointestinal Encephalomyopathy

artículo científico publicado en 2019

Sarcoidosis and inclusion body myositis

artículo científico publicado en 2008

Small nerve fiber pathology in critical illness

artículo científico publicado en 2013

Spinal muscular atrophy and mitochondrial DNA depletion. Response to Berber et al. (2003) Acta Neuropathol 105:245-251.

artículo científico publicado en 2003

Strategies for treating mitochondrial disorders: an update

artículo científico

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

artículo científico publicado en 2015

T-cell anti-apoptotic mechanisms in inflammatory myopathies

scientific article published on 01 November 2000

Tetracyclines and neuromuscular disorders

artículo científico publicado en 2012

The brain in late-onset glycogenosis II: a structural and functional MRI study.

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy.

artículo científico publicado en 2013

The role of mitochondria in neurodegenerative diseases

artículo científico publicado en 2011

The role of muscle biopsy in investigating isolated muscle pain

artículo científico publicado en 2007

Transcription factors c-Jun/activator protein-1 and nuclear factor-kappa B in oxidative stress response in mitochondrial diseases

artículo científico publicado en 2003

Trauma and amyotrophic lateral sclerosis: a european population-based case-control study from the EURALS consortium

artículo científico publicado en 2017

Vaccination recommendations for patients with neuromuscular disease.

artículo científico publicado en 2014

Very late-onset friedreich ataxia with laryngeal dystonia.

artículo científico publicado en 2014

Whole-blood global DNA methylation is increased in amyotrophic lateral sclerosis independently of age of onset

artículo científico publicado en 2013

Lista de obras de Massimiliano Filosto

A Multicentric Prospective Incidence Study of Guillain-Barré Syndrome in Italy. The ITANG Study

A Novel Mutation in Motor Domain of KIF5A Associated With an HSP/Axonal Neuropathy Phenotype

A Novel Mutation in the Stalk Domain of Causes a Slowly Progressive Atypical Motor Syndrome

A PCR-based protocol to accurately size C9orf72 intermediate-length alleles

A complex craniovertebral junction malformation in a patient with late onset glycogenosis 2.

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

A high-dose bortezomib neuropathy with sensory ataxia and myelin involvement

A mitochondrial DNA duplication as a marker of skeletal muscle specific mutations in the mitochondrial genome

A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia

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

A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions.

A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes.

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

A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism

A screening for superoxide dismutase-1 D90A mutation in Italian patients with sporadic amyotrophic lateral sclerosis

A very slowly progressive neurogenic 'man-in-the-barrel' syndrome.

ASAH1 variant causing a mild SMA phenotype with no myoclonic epilepsy: a clinical, biochemical and molecular study.

Advances in Quantitative Imaging of Genetic and Acquired Myopathies: Clinical Applications and Perspectives

Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy

An "inflammatory" mitochondrial myopathy. A case report

Antimyoclonic effect of levetiracetam in MERRF syndrome

Antioxidant agents have a different expression pattern in muscle fibers of patients with mitochondrial diseases

Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group

Atypical CIDP: diagnostic criteria, progression and treatment response. Data from the Italian CIDP Database

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

Becker muscular dystrophy due to an intronic splicing mutation inducing a dual dystrophin transcript

C9orf72 Intermediate Alleles in Patients with Amyotrophic Lateral Sclerosis, Systemic Lupus Erythematosus, and Rheumatoid Arthritis

Central-peripheral sensory axonopathy in a juvenile case of Alpers-Huttenlocher disease

Changing Characteristics of Late-Onset Pompe Disease Patients in Italy: Data from the Pompe Registry

Choreo-athetosis in LRRK2 R1441C mutation: expanding the clinical phenotype

Chronic ophthalmoparesis in limb girdle muscular dystrophy 1C.

Clinical Spectrum and Evolution of Monoclonal Gammopathy-associated Neuropathy

Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement

Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma

Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia.

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

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

Cortico-spinal tDCS in ALS: A randomized, double-blind, sham-controlled trial

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

Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy

Critical illness myopathy

Current options in the treatment of mitochondrial diseases.

Cutis verticis gyrata, mental retardation and Lennox-Gastaut syndrome: a case report

Decreased Levels of Foldase and Chaperone Proteins Are Associated with an Early-Onset Amyotrophic Lateral Sclerosis.

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

Dermatomyositis and retroperitoneal germ cell cancer

Disulfiram neuropathy: Two cases of distal axonopathy

Drugs and mitochondrial diseases: 40 queries and answers.

Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).

Electron transfer mediators and other metabolites and cofactors in the treatment of mitochondrial dysfunction.

Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial

Evaluation of muscle biopsy in late-onset GSDII patients before and after enzyme replacement therapy (ERT).

Exercise Combined with Electrotherapy Enhances Motor Function in an Adolescent with Spinal Muscular Atrophy Type III

Exploring Olfactory Function and Its Relation with Behavioral and Cognitive Impairment in Amyotrophic Lateral Sclerosis Patients: A Cross-Sectional Study

Expression of late myogenic differentiation markers in sarcoplasmic masses of patients with myotonic dystrophy

Expression of protein kinase C isoforms and interleukin-1beta in myofibrillar myopathy

Extrapyramidal and cognitive signs in amyotrophic lateral sclerosis: A population based cross-sectional study.

Eyelid ptosis from sympathetic nerve dysfunction mistaken as myopathy: a simple test to identify this condition

Features of cell death in brain and liver, the target tissues of progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher disease).

Frequency of diabetes and other comorbidities in chronic inflammatory demyelinating polyradiculoneuropathy and their impact on clinical presentation and response to therapy

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

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

Guillain-Barré syndrome and COVID-19: an observational multicentre study from two Italian hotspot regions

Hemangioma of the semimembranosus muscle in a patient with late-onset glycogenosis II.

Human leukocyte antigens class II in CIDP spectrum neuropathies

Human skeletal muscle as a target organ of trichloroethylene toxicity

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

I-4Long-term follow-up effects on enzymereplacement treatment of adult form of acid maltase deficiency myopathy.

Idiopathic hypocomplementemic urticarial vasculitis-linked neuropathy

Increased expression of the normal cellular isoform of prion protein in inclusion-body myositis, inflammatory myopathies and denervation atrophy

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies

Involvement of the central nervous system myelin in a POEMS patient

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

Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies

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

Late and Severe Myopathy in a Patient With Glycogenosis VII Worsened by Cyclosporine and Amiodarone

Late-Onset Glycogen Storage Disease Type 2.

Limb-girdle muscular dystrophy-associated protein diseases