Lista de obras - Michel Fardeau - Dominio Público Uruguay

"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy

artículo científico publicado en 2008

121st ENMC International Workshop on Desmin and Protein Aggregate Myopathies. 7-9 November 2003, Naarden, The Netherlands

scientific article published on 01 November 2004

156th ENMC International Workshop: Desmin and protein aggregate myopathies, 9–11 November 2007, Naarden, The Netherlands

artículo científico publicado en 2008

80th ENMC International Workshop on Multi-Minicore Disease: 1st International MmD Workshop 12–13th May, 2000, Soestduinen, The Netherlands ⬇️

artículo científico publicado el 1 de enero de 2002

A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.

artículo científico publicado en 2013

A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene

artículo científico publicado en 2002

ACTN2 mutations cause "Multiple structured Core Disease" (MsCD)

scientific article published on 30 January 2019

About the technique of muscle biopsy (IV). The advent of histochemistry and cytoenzymology in the analysis of muscle biopsies. A short and personal historical overview

artículo científico publicado en 2017

About the technique of muscle biopsy - A historical flash-back on the technique of muscle biopsie

artículo científico publicado en 2015

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

artículo científico publicado en 2014

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

artículo científico publicado en 2017

Ageing muscle: clonal expansions of mitochondrial DNA point mutations and deletions cause focal impairment of mitochondrial function

scientific article published on 01 June 2002

Assessment of a symptomatic Duchenne muscular dystrophy carrier 20 years after myoblast transplantation from her asymptomatic identical twin sister

artículo científico publicado en 2013

Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene

artículo científico publicado en 2014

C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy

artículo científico publicado en 2007

COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps

artículo científico publicado en 2007

Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy

artículo científico publicado en 2006

Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia

artículo científico publicado en 2009

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1

scientific journal article

Clinical, histological, and genetic characterization of PYROXD1-related myopathy

scientific article published on 27 August 2019

Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation.

artículo científico publicado en 2014

Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies

artículo científico publicado en 2007

Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy ⬇️

artículo científico publicado el 17 de enero de 2013

Correction: A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

scientific article published in PLoS ONE

Current protocol of a research phase I clinical trial of full-length dystrophin plasmid DNA in Duchenne/Becker muscular dystrophies. Part I: rationale.

artículo científico publicado en 2002

Current protocol of a research phase I clinical trial of full-length dystrophin plasmid DNA in Duchenne/Becker muscular dystrophies. Part II: clinical protocol

artículo científico publicado en 2002

Current protocol of a research phase I clinical trial of full-length dystrophin plasmid DNA in Duchenne/Becker muscular dystrophies. Part III. Ethical considerations

artículo científico publicado en 2002

Cylindrical spirals associated with severe congenital muscle weakness and epileptic encephalopathy

artículo científico publicado en 2015

De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins

scientific article published on 01 October 2010

Desmin - Protein Surplus Myopathies, 96th European Neuromuscular Centre (ENMC)-sponsored International Workshop held 14-16 September 2001, Naarden, The Netherlands

artículo científico publicado en 2002

Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.

artículo científico publicado en 2004

Diagnostic workup for neuromuscular diseases

artículo científico publicado el 1 de enero de 2013

Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study.

artículo científico publicado en 2009

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

artículo científico publicado en 2016

Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia

artículo científico publicado en 2003

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset

scientific article published on 01 December 2007

EMG and nerve conduction studies in children with congenital muscular dystrophy

scientific article published on 01 February 2004

Effect of 1-year oral administration of dehydroepiandrosterone to 60- to 80-year-old individuals on muscle function and cross-sectional area: a double-blind placebo-controlled trial.

artículo científico publicado en 2003

Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation.

artículo científico publicado en 2004

Endplate denervation correlates with Nogo-A muscle expression in amyotrophic lateral sclerosis patients.

artículo científico publicado en 2015

Evaluation of muscle glycogen content by 13C NMR spectroscopy in adult-onset acid maltase deficiency

artículo científico publicado en 2003

Extensive morphological and immunohistochemical characterization in myotubular myopathy.

artículo científico publicado en 2013

Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French Cohort

artículo científico publicado en 2018

Glucocorticoid treatment induces expression of small heat shock proteins in human satellite cell populations: consequences for a desmin-related myopathy involving the R120G alpha B-crystallin mutation

scientific article published on 01 June 2002

Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

Identification of an agrin mutation that causes congenital myasthenia and affects synapse function.

artículo científico publicado en 2009

MUSK, a new target for mutations causing congenital myasthenic syndrome

artículo científico publicado en 2004

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.

artículo científico publicado en 2014

Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy

artículo científico publicado en 2017

Mutations in dynamin 2 cause dominant centronuclear myopathy

artículo científico publicado en 2005

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

artículo científico publicado en 1999

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies

artículo científico publicado en 2002

Myofibrillar myopathies.

artículo científico

Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entity

artículo científico publicado en 2010

Myotilinopathy in a family with late onset myopathy

artículo científico publicado en 2006

Natural history of LGMD2A for delineating outcome measures in clinical trials

artículo científico publicado en 2016

Neuromuscular disease: muscle

scientific article published on 01 October 2013

PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy -Consequences in Clinical Diagnosis and Genetic Counselling

artículo científico publicado en 2015

Pathophysiological characterization of congenital myasthenic syndromes: the example of mutations in the MUSK gene

artículo científico publicado en 2005

Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome

artículo científico publicado en 2013

Phase I study of dystrophin plasmid-based gene therapy in Duchenne/Becker muscular dystrophy.

artículo científico publicado en 2004

Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene.

scientific article published on 05 April 2007

Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia.

artículo científico publicado en 2004

Protein 4.1R expression in normal and dystrophic skeletal muscle.

artículo científico publicado en 2005

RETRACTED: VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification

scientific journal article

Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.

artículo científico publicado en 2017

Retraction Notice to: VMA21 Deficiency Causes an Autophagic Myopathy by Compromising V-ATPase Activity and Lysosomal Acidification ⬇️

artículo científico publicado el 17 de septiembre de 2010

Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia

artículo científico publicado en 2018

Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency

artículo científico publicado en 2002

Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders

scientific article published on September 2013

Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibres due to a DNM2 mutation

scientific article published on 01 February 2011

Telethonin-deficiency initially presenting as a congenital muscular dystrophy.

artículo científico publicado en 2011

The clinical, histological, and genotypic spectrum of SEPN1-related myopathy: A case series

scientific article published on 13 August 2020

The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13

artículo científico publicado en 1995

Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency

artículo científico publicado en 2003

VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy

artículo científico publicado en 2013

[About a phase I gene therapy clinical trial with a full-length dystrophin gene-plasmid in Duchenne/Becker muscular dystrophy].

artículo científico publicado en 2005

[Congenital myasthenic syndromes; French experience]

artículo científico publicado en 2014

[From clinical medicine to molecular genetics: the new outlook of hereditary muscular dystrophies]

scientific article published on 01 January 2002

[Historical review on the researches on muscular dystrophies]

artículo científico publicado en 2006

Lista de obras de Michel Fardeau

"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy

121st ENMC International Workshop on Desmin and Protein Aggregate Myopathies. 7-9 November 2003, Naarden, The Netherlands

156th ENMC International Workshop: Desmin and protein aggregate myopathies, 9–11 November 2007, Naarden, The Netherlands

80th ENMC International Workshop on Multi-Minicore Disease: 1st International MmD Workshop 12–13th May, 2000, Soestduinen, The Netherlands ⬇️

A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.

A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene

ACTN2 mutations cause "Multiple structured Core Disease" (MsCD)

About the technique of muscle biopsy (IV). The advent of histochemistry and cytoenzymology in the analysis of muscle biopsies. A short and personal historical overview

About the technique of muscle biopsy - A historical flash-back on the technique of muscle biopsie

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

Ageing muscle: clonal expansions of mitochondrial DNA point mutations and deletions cause focal impairment of mitochondrial function

Assessment of a symptomatic Duchenne muscular dystrophy carrier 20 years after myoblast transplantation from her asymptomatic identical twin sister

Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene

C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy

COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps

Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy

Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia

Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1

Clinical, histological, and genetic characterization of PYROXD1-related myopathy

Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation.

Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies

Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy ⬇️

Correction: A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

Current protocol of a research phase I clinical trial of full-length dystrophin plasmid DNA in Duchenne/Becker muscular dystrophies. Part I: rationale.

Current protocol of a research phase I clinical trial of full-length dystrophin plasmid DNA in Duchenne/Becker muscular dystrophies. Part II: clinical protocol

Current protocol of a research phase I clinical trial of full-length dystrophin plasmid DNA in Duchenne/Becker muscular dystrophies. Part III. Ethical considerations

Cylindrical spirals associated with severe congenital muscle weakness and epileptic encephalopathy

De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins

Desmin - Protein Surplus Myopathies, 96th European Neuromuscular Centre (ENMC)-sponsored International Workshop held 14-16 September 2001, Naarden, The Netherlands

Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene.

Diagnostic workup for neuromuscular diseases

Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study.

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset

EMG and nerve conduction studies in children with congenital muscular dystrophy

Effect of 1-year oral administration of dehydroepiandrosterone to 60- to 80-year-old individuals on muscle function and cross-sectional area: a double-blind placebo-controlled trial.

Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation.

Endplate denervation correlates with Nogo-A muscle expression in amyotrophic lateral sclerosis patients.

Evaluation of muscle glycogen content by 13C NMR spectroscopy in adult-onset acid maltase deficiency

Extensive morphological and immunohistochemical characterization in myotubular myopathy.

Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French Cohort

Glucocorticoid treatment induces expression of small heat shock proteins in human satellite cell populations: consequences for a desmin-related myopathy involving the R120G alpha B-crystallin mutation

Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

Identification of an agrin mutation that causes congenital myasthenia and affects synapse function.

MUSK, a new target for mutations causing congenital myasthenic syndrome

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.

Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy

Mutations in dynamin 2 cause dominant centronuclear myopathy

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies

Myofibrillar myopathies.

Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entity

Myotilinopathy in a family with late onset myopathy

Natural history of LGMD2A for delineating outcome measures in clinical trials

Neuromuscular disease: muscle

PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy -Consequences in Clinical Diagnosis and Genetic Counselling

Pathophysiological characterization of congenital myasthenic syndromes: the example of mutations in the MUSK gene

Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome

Phase I study of dystrophin plasmid-based gene therapy in Duchenne/Becker muscular dystrophy.

Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene.

Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia.

Protein 4.1R expression in normal and dystrophic skeletal muscle.

RETRACTED: VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification

Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.

Retraction Notice to: VMA21 Deficiency Causes an Autophagic Myopathy by Compromising V-ATPase Activity and Lysosomal Acidification ⬇️

Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia

Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency

Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders

Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibres due to a DNM2 mutation

Telethonin-deficiency initially presenting as a congenital muscular dystrophy.

The clinical, histological, and genotypic spectrum of SEPN1-related myopathy: A case series

The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13

Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency

VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy

[About a phase I gene therapy clinical trial with a full-length dystrophin gene-plasmid in Duchenne/Becker muscular dystrophy].

[Congenital myasthenic syndromes; French experience]

[From clinical medicine to molecular genetics: the new outlook of hereditary muscular dystrophies]