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Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: prospective analysis from the French Pompe Registry
Semplicini C, De Antonio M, Taouagh N, et al.
Journal of inherited metabolic disease, 2020
The French national protocol for Kennedy's disease (SBMA): consensus diagnostic and management recommendations
Pradat PF, Bernard E, Corcia P, et al.
Orphanet journal of rare diseases, 2020, 15, 1, p 90
Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naive and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study
Pena LDM, Barohn RJ, Byrne BJ, et al.
Neuromuscular disorders : NMD, 2019, 29, 3, p 167
Phenotypic and genotypic studies of ALS cases in ALS-SMA families
Corcia P, Vourc'h P, Blasco H, et al.
Amyotrophic lateral sclerosis & frontotemporal degeneration, 2018
Short-TERM Neuromuscular Electrical Stimulation Training of the Tibialis Anterior Did Not Improve Strength and Motor Function in Facioscapulohumeral Muscular Dystrophy Patients
Doix AM, Roeleveld K, Garcia J, et al.
American journal of physical medicine & rehabilitation, 2017, 96, 4, p e56
Long term follow-up of cerebrovascular abnormalities in late onset Pompe disease (LOPD)
Garibaldi M, Sacconi S, Antonini G, et al.
Journal of neurology, 2017, 264, 3, p 589
Bent spine syndrome as the initial symptom of late-onset Pompe disease
Taisne N, Desnuelle C, Juntas Morales R, et al.
Muscle & Nerve, 2017, 56, 1, p 167
First clinical and genetic description of a family diagnosed with late-onset Pompe disease from Costa Rica
Torrealba-Acosta G, Rodriguez-Roblero MC, Bogantes-Ledezma S, et al.
Neuromuscular disorders : NMD, 2017, 27, 10, p 951
A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease
Byrne BJ, Geberhiwot T, Barshop BA, et al.
Orphanet journal of rare diseases, 2017, 12, 1
Therapeutic target of memory B cells depletion helps to tailor administration frequency of rituximab in myasthenia gravis
Lebrun C, Bourg V, Bresch S, et al.
Journal of neuroimmunology, 2016, 298, p 79
Unusual association of amyotrophic lateral sclerosis and myasthenia gravis: A dysregulation of the adaptive immune system?
Del Mar Amador M, Vandenberghe N, Berhoune N, et al.
Neuromuscular disorders : NMD, 2016, 26, 6, p 342
Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study
Dogan C, De Antonio M, Hamroun D, et al.
PLoS ONE, 2016, 11, 2
Modeling Andersen's Syndrome in Human Induced Pluripotent Stem Cells
Pini J, Rouleau M, Desnuelle C, et al.
Stem cells and development, 2016, 25, 2, p 151
Correlation between low FAT1 expression and early affected muscle in Facioscapulohumeral Muscular Dystrophy
Mariot V, Roche S, Hourde C, et al.
Annals of neurology, 2015, 78, 3, p 387
Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study
Salort-Campana E, Nguyen K, Bernard R, et al.
Orphanet journal of rare diseases, 2015, 10
Preliminary clinical efficacy and safety of PBN 701, GILT-tagged recombinant human acid alpha glucosidase (rhGAA), i, late-onset Pompe disease : results of an extension study
Byrne B, Barohn R, Barshop B, et al.
Molecular genetics and metabolism, 2014, 111, 2, S29
Facioscapulohumeral muscular dystrophy
Sacconi S, Salviati L, Desnuelle C
Biochimica et biophysica acta, 2014, 1852, 4, p 607
Dystrophie musculaire facio-scapulo-humérale de type 2
Sacconi S, Desnuelle C
Les Cahiers de Myologie, 2014, 10, p. 5-10
DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles
Ferreboeuf M, Mariot V, Bessieres B, et al.
Human molecular genetics, 2014, 23, 1, p. 171-181
DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles
Ferreboeuf M, Mariot V, Bessieres B, et al.
Human molecular genetics, 2014, 23, 1, p 171
Testing the validity of a set of diagnostic criteria for sensory neuronopathies: a francophone collaborative study
Antoine JC, Robert-Varvat F, Maisonobe T, et al.
Journal of neurology, 2014, 261, 11, p 2093
Atrio-ventricular block requiring pacemaker in patients with late onset Pompe disease
Sacconi S, Wahbi K, Theodore G, et al.
Neuromuscular disorders : NMD, 2014, 24, 7, p 648
Tableau myopathique. Les signes cliniques permettant d'orienter le diagnostic
Sacconi S, Lahaut P, Desnuelle C
Neurologies, 2013, 16, 161, p. 288-293
The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1
Sacconi S, Lemmers RJLF, Balog J, et al.
American journal of human genetics (The), 2013, 93, 4, p. 744-751
Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy
Broucqsault N, Morere J, Gaillard MC, et al.
Human molecular genetics, 2013, 22, 20, p. 4206-4214
