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Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

Science (American Association for the Advancement of Science), 2010-09, Vol.329 (5999), p.1650-1653

2010

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Miller Fisher syndrome, Bickerstaff brainstem encephalitis and Guillain-Barré syndrome overlap with persistent non-demyelinating conduction blocks: a case report

BMC neurology, 2018-07, Vol.18 (1), p.101-101, Article 101

2018

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The Splicing of the Mitochondrial Calcium Uniporter Genuine Activator MICU1 Is Driven by RBFOX2 Splicing Factor during Myogenic Differentiation

International journal of molecular sciences, 2022-02, Vol.23 (5), p.2517

2022

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A novel role for the RNA-binding protein FXR1P in myoblasts cell-cycle progression by modulating p21/Cdkn1a/Cip1/Waf1 mRNA stability

PLoS genetics, 2013-03, Vol.9 (3), p.e1003367-e1003367

2013

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High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect

Human molecular genetics, 2022-03, Vol.31 (5), p.748-760

2022

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Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

Journal of neurology, 2019-03, Vol.266 (3), p.680-690

2019

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Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments

Orphanet journal of rare diseases, 2024-01, Vol.19 (1), p.24-24, Article 24

2024

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Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD

Human mutation, 2009-10, Vol.30 (10), p.1449-1459

2009

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Meeting report: the 2021 FSHD International Research Congress

Skeletal muscle, 2022-01, Vol.12 (1), p.1-1, Article 1

2022

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The French National Registry of patients with Facioscapulohumeral muscular dystrophy

Orphanet journal of rare diseases, 2018-12, Vol.13 (1), p.218-218, Article 218

2018

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Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy

Annals of neurology, 2015-09, Vol.78 (3), p.387-400

2015

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Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention

International journal of molecular sciences, 2020-03, Vol.21 (6), p.2221

2020

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The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy

PLoS genetics, 2009-02, Vol.5 (2), p.e1000394-e1000394

2009

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The quality of life in genetic neuromuscular disease questionnaire: Rasch validation of the French version

Muscle & nerve, 2017-12, Vol.56 (6), p.1085-1091

2017

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Teleconsultations for mental health: Recommendations from a Delphi panel

Internet interventions : the application of information technology in mental and behavioural health, 2023-12, Vol.34, p.100660-100660, Article 100660

2023

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Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)

Orphanet journal of rare diseases, 2020-10, Vol.15 (1), p.187-11, Article 187

2020

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Non-canonical telomere protection role of FOXO3a of human skeletal muscle cells regulated by the TRF2-redox axis

Communications biology, 2023-05, Vol.6 (1), p.561-561, Article 561

2023

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Hierarchization of Myogenic and Adipogenic Progenitors Within Human Skeletal Muscle

Stem cells (Dayton, Ohio), 2010-12, Vol.28 (12), p.2182-2194

2010

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Construction of a Quality of Life Questionnaire for slowly progressive neuromuscular disease

Quality of life research, 2015-11, Vol.24 (11), p.2615-2623

2015

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Isolation of a Highly Myogenic CD34‐Negative Subset of Human Skeletal Muscle Cells Free of Adipogenic Potential

Stem cells (Dayton, Ohio), 2010-04, Vol.28 (4), p.753-764

2010

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Mitochondrial DNA depletion and dGK gene mutations

Annals of neurology, 2002-09, Vol.52 (3), p.311-317

2002

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Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations

Orphanet journal of rare diseases, 2012-04, Vol.7 (1), p.21-21, Article 21

2012

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Facioscapulohumeral muscular dystrophy

Biochimica et biophysica acta, 2015-04, Vol.1852 (4), p.607-614

2015

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Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency

Journal of human genetics, 2009-07, Vol.54 (7), p.419-421

2009

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Neuromuscular Electrical Stimulation Training: A Safe and Effective Treatment for Facioscapulohumeral Muscular Dystrophy Patients

Archives of physical medicine and rehabilitation, 2010-05, Vol.91 (5), p.697-702

2010

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Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

Miller Fisher syndrome, Bickerstaff brainstem encephalitis and Guillain-Barré syndrome overlap with persistent non-demyelinating conduction blocks: a case report

The Splicing of the Mitochondrial Calcium Uniporter Genuine Activator MICU1 Is Driven by RBFOX2 Splicing Factor during Myogenic Differentiation

A novel role for the RNA-binding protein FXR1P in myoblasts cell-cycle progression by modulating p21/Cdkn1a/Cip1/Waf1 mRNA stability

High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect

Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments

Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD

Meeting report: the 2021 FSHD International Research Congress

The French National Registry of patients with Facioscapulohumeral muscular dystrophy

Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy

Type 1 FSHD with 6-10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention

The D4Z4 macrosatellite repeat acts as a CTCF and A-type lamins-dependent insulator in facio-scapulo-humeral dystrophy

The quality of life in genetic neuromuscular disease questionnaire: Rasch validation of the French version

Teleconsultations for mental health: Recommendations from a Delphi panel

Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)

Non-canonical telomere protection role of FOXO3a of human skeletal muscle cells regulated by the TRF2-redox axis

Hierarchization of Myogenic and Adipogenic Progenitors Within Human Skeletal Muscle

Construction of a Quality of Life Questionnaire for slowly progressive neuromuscular disease

Isolation of a Highly Myogenic CD34‐Negative Subset of Human Skeletal Muscle Cells Free of Adipogenic Potential

Mitochondrial DNA depletion and dGK gene mutations

Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations

Facioscapulohumeral muscular dystrophy

Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency

Neuromuscular Electrical Stimulation Training: A Safe and Effective Treatment for Facioscapulohumeral Muscular Dystrophy Patients

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