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15P Prospective, longitudinal study of the natural history of paediatric patients in France with LAMA2 related dystrophies

Neuromuscular disorders : NMD, 2024-10, Vol.43, p.104441, Article 104441.213

2024

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P.330Fibroadipose infiltration scores of specific muscles are influenced by disease duration in partial merosin deficiency

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S163-S163

2019

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P.306 - Muscle magnetic resonance imaging involvement in mitochondrial myopathy due to TK2 deficiency

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S178-S179

2016

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188P Easy neurocognitive and social evaluation could detect abnormal neurodevelopment in SMA Type 1

Neuromuscular disorders : NMD, 2024-10, Vol.43, p.104441, Article 104441.439

2024

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Muscle magnetic resonance imaging involvement in mitochondrial myopathy due to TK2 deficiency

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S178-S179

2016

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Two recent pediatric cases of severe polio-like paralysis caused by enterovirus D68 infection in Spain

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S143-S143

2016

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Expanded King–Denborough phenotype and congenital myopathy in two brothers with RYR1 mutation

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S136-S136

2016

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Random forest approach to assess relationships of subjective muscle fatty infiltration with age at clinical onset and time of disease evolution in LMNA -related muscle disorders

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S138

2017

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P.136 - Random forest approach to assess relationships of subjective muscle fatty infiltration with age at clinical onset and time of disease evolution in LMNA-related muscle disorders

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S138-S138

2017

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Distrofias musculares congénitas

Revista Médica Clínica Las Condes, 2018-09, Vol.29 (5), p.530-543

2018

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190P Spectrum of phenotypes in SMA patients with four SMN2 copies in France (Registre SMA France)

Neuromuscular disorders : NMD, 2024-10, Vol.43, p.104441, Article 104441.441

2024

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P.51 Real-world experience after one year treating SMA children with risdiplam

Neuromuscular disorders : NMD, 2022-10, Vol.32, p.S62

2022

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MYASTHENIA & RELATED DISORDERS: P.34 Congenital myasthenic syndrome in two Egyptian siblings due to a novel low-expressor AChR epsilon subunit mutation

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S57-S58

2020

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MYASTHENIA & RELATED DISORDERS

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S57-S58

2020

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SMA CLINICAL DATA

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S126

2021

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SMA CLINICAL DATA: EP.252 Minimally invasive fusionless surgery for scoliosis in spinal muscular atrophy: long-term follow-up results in a series of 59 children

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S126-S126

2021

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SMA – OUTCOME MEASURES AND REGISTRIES: EP.267 "Registry - SMA France: one year after launching the National French registry on SMA

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S130-S131

2021

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SMA – OUTCOME MEASURES AND REGISTRIES

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S130-S131

2021

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P.256Steroid treatment may change natural history in young children with LMNA mutations and dropped head syndrome

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S141-S141

2019

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P.127 - Phenotypic heterogeneity in patients with mutations in the IGHMBP2 gene

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S135-S135

2017

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Phenotypic heterogeneity in patients with mutations in the IGHMBP2 gene

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S135

2017

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SMA – THERAPY: P.267 Minimally invasive fusionless surgery offers satisfactory early and definitive treatment for scoliosis in SMA children: Our experience over a decade

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S124-S125

2020

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SMA – THERAPY

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S124-S125

2020

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SMA: REGISTRIES, BIOMARKERS & OUTCOME MEASURES: P.186 ``Registre-SMA France'': a national registry of patients with spinal muscular atrophy (SMA)

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S101-S101

2020

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SMA: REGISTRIES, BIOMARKERS & OUTCOME MEASURES

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S101

2020

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15P Prospective, longitudinal study of the natural history of paediatric patients in France with LAMA2 related dystrophies

P.330Fibroadipose infiltration scores of specific muscles are influenced by disease duration in partial merosin deficiency

P.306 - Muscle magnetic resonance imaging involvement in mitochondrial myopathy due to TK2 deficiency

188P Easy neurocognitive and social evaluation could detect abnormal neurodevelopment in SMA Type 1

Muscle magnetic resonance imaging involvement in mitochondrial myopathy due to TK2 deficiency

Two recent pediatric cases of severe polio-like paralysis caused by enterovirus D68 infection in Spain

Expanded King–Denborough phenotype and congenital myopathy in two brothers with RYR1 mutation

Random forest approach to assess relationships of subjective muscle fatty infiltration with age at clinical onset and time of disease evolution in LMNA -related muscle disorders

P.136 - Random forest approach to assess relationships of subjective muscle fatty infiltration with age at clinical onset and time of disease evolution in LMNA-related muscle disorders

Distrofias musculares congénitas

190P Spectrum of phenotypes in SMA patients with four SMN2 copies in France (Registre SMA France)

P.51 Real-world experience after one year treating SMA children with risdiplam

MYASTHENIA & RELATED DISORDERS: P.34 Congenital myasthenic syndrome in two Egyptian siblings due to a novel low-expressor AChR epsilon subunit mutation

MYASTHENIA & RELATED DISORDERS

SMA CLINICAL DATA

SMA CLINICAL DATA: EP.252 Minimally invasive fusionless surgery for scoliosis in spinal muscular atrophy: long-term follow-up results in a series of 59 children

SMA – OUTCOME MEASURES AND REGISTRIES: EP.267 "Registry - SMA France: one year after launching the National French registry on SMA

SMA – OUTCOME MEASURES AND REGISTRIES

P.256Steroid treatment may change natural history in young children with LMNA mutations and dropped head syndrome

P.127 - Phenotypic heterogeneity in patients with mutations in the IGHMBP2 gene

Phenotypic heterogeneity in patients with mutations in the IGHMBP2 gene

SMA – THERAPY: P.267 Minimally invasive fusionless surgery offers satisfactory early and definitive treatment for scoliosis in SMA children: Our experience over a decade

SMA – THERAPY

SMA: REGISTRIES, BIOMARKERS & OUTCOME MEASURES: P.186 ``Registre-SMA France'': a national registry of patients with spinal muscular atrophy (SMA)

SMA: REGISTRIES, BIOMARKERS & OUTCOME MEASURES

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