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Real‐life effectiveness 1 year after switching to avalglucosidase alfa in late‐onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study

European journal of neurology, 2024-07, Vol.31 (7), p.e16292-n/a

2024

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Motor and respiratory decline in patients with late onset Pompe disease after cessation of enzyme replacement therapy during COVID‐19 pandemic

European journal of neurology, 2022-04, Vol.29 (4), p.1181-1186

2022

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Génétique des maladies du motoneurone

EMC - Neurologie, 2009-01, Vol.6 (4), p.1-6

2009

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P4.50 Results of prolonged follow-up of late-onset Pompe disease treated with alglucosidase alfa (Myozyme)

Neuromuscular disorders : NMD, 2010-10, Vol.20 (9), p.673-674

2010

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Genetics of motor neuron disorders

Revue neurologique, 2008-02, Vol.164 (2), p.115-130

2008

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Amyotrophie diabétique : effet favorable de la corticothérapie

La revue de medecine interne, 2009-12, Vol.30, p.S467-S467

2009

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Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study

Journal of inherited metabolic disease, 2018-12, Vol.41 (6), p.937-946

2018

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P.228 - Trifunctional protein beta subunit (HADHB) mutations associated with periodic paralysis phenotype

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S164-S164

2017

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Trifunctional protein beta subunit ( HADHB ) mutations associated with periodic paralysis phenotype

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S164

2017

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Bilateral hand amyotrophy with PMP-22 gene deletion

European journal of neurology, 2007-01, Vol.14 (1), p.115-116

2007

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Étude épidémiologique, phénotypique et génétique rétrospective dans une cohorte de 283 familles : un nouvel argument pour la prédominance d’une transmission non monogénique

Revue neurologique, 2009, Vol.165, p.S26-S27

2009

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Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients

Scientific reports, 2016-11, Vol.6 (1), p.36182-36182, Article 36182

2016

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Progressive anarthria: an individual entity

Revue neurologique, 2008-05, Vol.164 (5), p.444-451

2008

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E - 13 L’anarthrie progressive : une entité propre ?

Revue neurologique, 2007-04, Vol.163 (4), p.173-173

2007

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Homozygous SMN2 deletion is a protective factor in the Swedish ALS population

European journal of human genetics : EJHG, 2012-05, Vol.20 (5), p.588-591

2012

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The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease

Revue neurologique, 2013-08, Vol.169 (8-9), p.595-602

2013

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P.67 - Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S109-S110

2016

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EEG d'urgenceB: indications réelles et résultats

Neurophysiologie clinique, 2004-10, Vol.34 (3-4), p.175-181

2004

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Study of the HFE gene common polymorphisms in French patients with sporadic amyotrophic lateral sclerosis

Journal of the neurological sciences, 2012-06, Vol.317 (1), p.58-61

2012

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A Rare Motor Neuron Deleterious Missense Mutation in the DPYSL3 (CRMP4) Gene is Associated with ALS

Human mutation, 2013-07, Vol.34 (7), p.953-960

2013

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Outcome at Adulthood of the Continuous Spike–waves During Slow Sleep and Landau–Kleffner Syndromes

Epilepsia (Copenhagen), 2003-11, Vol.44 (11), p.1434-1440

2003

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Association between divalent metal transport 1 encoding gene (SLC11A2) and disease duration in amyotrophic lateral sclerosis

Journal of the neurological sciences, 2011-04, Vol.303 (1), p.124-127

2011

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APOE ε4 allele is associated with an increased risk of bulbar-onset amyotrophic lateral sclerosis in men: APOE ε4 allele in men with bulbar-onset ALS

European journal of neurology, 2011-08, Vol.18 (8), p.1046-1052

2011

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Diabetic amyotrophy: favorable outcome following corticosteroid therapy?

La revue de medecine interne, 2011-11, Vol.32 (11), p.e111-e113

2011

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Real‐life effectiveness 1 year after switching to avalglucosidase alfa in late‐onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study

Motor and respiratory decline in patients with late onset Pompe disease after cessation of enzyme replacement therapy during COVID‐19 pandemic

Génétique des maladies du motoneurone

P4.50 Results of prolonged follow-up of late-onset Pompe disease treated with alglucosidase alfa (Myozyme)

Genetics of motor neuron disorders

Amyotrophie diabétique : effet favorable de la corticothérapie

Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study

P.228 - Trifunctional protein beta subunit (HADHB) mutations associated with periodic paralysis phenotype

Trifunctional protein beta subunit ( HADHB ) mutations associated with periodic paralysis phenotype

Bilateral hand amyotrophy with PMP-22 gene deletion

Étude épidémiologique, phénotypique et génétique rétrospective dans une cohorte de 283 familles : un nouvel argument pour la prédominance d’une transmission non monogénique

Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients

Progressive anarthria: an individual entity

E - 13 L’anarthrie progressive : une entité propre ?

Homozygous SMN2 deletion is a protective factor in the Swedish ALS population

The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease

P.67 - Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease

EEG d'urgenceB: indications réelles et résultats

Study of the HFE gene common polymorphisms in French patients with sporadic amyotrophic lateral sclerosis

A Rare Motor Neuron Deleterious Missense Mutation in the DPYSL3 (CRMP4) Gene is Associated with ALS

Outcome at Adulthood of the Continuous Spike–waves During Slow Sleep and Landau–Kleffner Syndromes

Association between divalent metal transport 1 encoding gene (SLC11A2) and disease duration in amyotrophic lateral sclerosis

Somatosensory evoked potentials in the assessment of peripheral neuropathies: Commented results of a survey among French-speaking practitioners and recommendations for practice

APOE ε4 allele is associated with an increased risk of bulbar-onset amyotrophic lateral sclerosis in men: APOE ε4 allele in men with bulbar-onset ALS

Diabetic amyotrophy: favorable outcome following corticosteroid therapy?

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