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Arthrogryposis in children: Etiological assessments and preparation of a protocol for etiological investigations

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2018-07, Vol.25 (5), p.322-326

2018

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A new score combining compound muscle action potential (CMAP) amplitudes and motor score is predictive of motor outcome after AVXS-101 (Onasemnogene Abeparvovec) SMA therapy

Neuromuscular disorders : NMD, 2023-04, Vol.33 (4), p.309-314

2023

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Titin gene mutations presenting as centronuclear myophathies

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S113-S113

2016

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Severe cardiopathy in a patient with a new mutation of the fukutin gene with limb girdle phenotype

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S164-S164

2016

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Infantile facioscapulohumeral muscular dystrophy (FSHD): A severe multi-systemic disease

European journal of paediatric neurology, 2017-06, Vol.21, p.e94-e95

2017

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Partial acute transverse myelitis is a predictor of multiple sclerosis in children

Multiple sclerosis, 2014-10, Vol.20 (11), p.1485-1493

2014

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Pediatric cerebral venous thrombosis: Description and prognosis according to the physiopathological mechanism in a population of 40 cases

European journal of paediatric neurology, 2017-06, Vol.21, p.e174-e174

2017

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Congenital neuromuscular diseases with neonatal respiratory failure excluding myotonic dystrophy type 1 and infantile spinal muscular atrophy. Diagnosis strategy according to a 19-child series

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2016-09, Vol.23 (9), p.878-886

2016

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Efficiency of targeted NGS on myopathies and muscular dystrophy genes: Importance of an optimized strategy of capture, sequencing, bioinformatic analyses and multidisciplinary approach for variants detection and interpretation

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S161-S162

2016

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PP05.17 – 2757: Acute acquired nontraumatic VIth cranial nerve palsies in children: about 22 cases

European journal of paediatric neurology, 2015-05, Vol.19, p.S51-S51

2015

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SMA - CLINICAL: P.85 Evolution at 18 months of SMA type 1 patients treated with nusinersen

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S72-S72

2020

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SMA - CLINICAL

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S72

2020

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P.79 - Titin gene mutations presenting as centronuclear myophathies

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S113-S113

2016

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P.255 - Severe cardiopathy in a patient with a new mutation of the fukutin gene with limb girdle phenotype

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S164-S164

2016

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P.237Functional analyses and phenotype-genotype correlation studies in patients suspected of titinopathy

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S136-S136

2019

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P.329 - Efficiency of next generation sequencing of a large panel of genes for diagnosis of children with myopathies and muscular dystrophies, especially for early and/or typical cases

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S195-S195

2017

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Efficiency of next generation sequencing of a large panel of genes for diagnosis of children with myopathies and muscular dystrophies, especially for early and/or typical cases

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S195

2017

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NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S141-S142

2018

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NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY: P.372Next generation sequencing: new phenotype-genotype correlations

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S141-S142

2018

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Maladies neuromusculaires congénitales à expression respiratoire néonatale à l’exclusion de la dystrophie myotonique de type 1 et de l’amyotrophie spinale infantile. Stratégie d’exploration d’après une série de 19 enfants

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2016-09, Vol.23 (9), p.878-886

2016

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The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care

Orphanet journal of rare diseases, 2019-06

2019

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P.245 - Efficiency of targeted NGS on myopathies and muscular dystrophy genes: Importance of an optimized strategy of capture, sequencing, bioinformatic analyses and multidisciplinary approach for variants detection and interpretation

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S161-S162

2016

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Facteurs pronostiques dans le syndrome opsoclonus-myoclonus de l’enfant : expérience du CHU de Montpellier

Revue neurologique, 2013-04, Vol.169, p.A161-A161

2013

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P302 - Homocystinurie par déficit en CbS : cause «traitable» de déficience intellectuelle

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2010-06, Vol.17 (6), p.125-126

2010

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Arthrogryposis in children: Etiological assessments and preparation of a protocol for etiological investigations

A new score combining compound muscle action potential (CMAP) amplitudes and motor score is predictive of motor outcome after AVXS-101 (Onasemnogene Abeparvovec) SMA therapy

Titin gene mutations presenting as centronuclear myophathies

Severe cardiopathy in a patient with a new mutation of the fukutin gene with limb girdle phenotype

Infantile facioscapulohumeral muscular dystrophy (FSHD): A severe multi-systemic disease

Partial acute transverse myelitis is a predictor of multiple sclerosis in children

Pediatric cerebral venous thrombosis: Description and prognosis according to the physiopathological mechanism in a population of 40 cases

Congenital neuromuscular diseases with neonatal respiratory failure excluding myotonic dystrophy type 1 and infantile spinal muscular atrophy. Diagnosis strategy according to a 19-child series

Efficiency of targeted NGS on myopathies and muscular dystrophy genes: Importance of an optimized strategy of capture, sequencing, bioinformatic analyses and multidisciplinary approach for variants detection and interpretation

PP05.17 – 2757: Acute acquired nontraumatic VIth cranial nerve palsies in children: about 22 cases

Long‐term follow‐up of 64 children with classical infantile‐onset Pompe disease since 2004: A French real‐life observational study

SMA - CLINICAL: P.85 Evolution at 18 months of SMA type 1 patients treated with nusinersen

SMA - CLINICAL

P.79 - Titin gene mutations presenting as centronuclear myophathies

P.255 - Severe cardiopathy in a patient with a new mutation of the fukutin gene with limb girdle phenotype

P.237Functional analyses and phenotype-genotype correlation studies in patients suspected of titinopathy

P.329 - Efficiency of next generation sequencing of a large panel of genes for diagnosis of children with myopathies and muscular dystrophies, especially for early and/or typical cases

Efficiency of next generation sequencing of a large panel of genes for diagnosis of children with myopathies and muscular dystrophies, especially for early and/or typical cases

NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY

NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY: P.372Next generation sequencing: new phenotype-genotype correlations

Maladies neuromusculaires congénitales à expression respiratoire néonatale à l’exclusion de la dystrophie myotonique de type 1 et de l’amyotrophie spinale infantile. Stratégie d’exploration d’après une série de 19 enfants

The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care

P.245 - Efficiency of targeted NGS on myopathies and muscular dystrophy genes: Importance of an optimized strategy of capture, sequencing, bioinformatic analyses and multidisciplinary approach for variants detection and interpretation

Facteurs pronostiques dans le syndrome opsoclonus-myoclonus de l’enfant : expérience du CHU de Montpellier

P302 - Homocystinurie par déficit en CbS : cause «traitable» de déficience intellectuelle

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