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Auteur Desnuelle C |
Documents disponibles écrits par cet auteur



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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
Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : Orphanet journal of rare diseases, 15, 1 Titre : The French national protocol for Kennedy's disease (SBMA): consensus diagnostic and management recommendations Type de document : Article Auteurs : Pradat PF, Auteur ; Bernard E ; Corcia P ; Couratier P ; Jublanc C ; Querin G ; Morélot Panzini C ; Salachas F ; Vial C ; Wahbi K ; Bede P ; Desnuelle C Année de publication : 04/2020 Pages : p 90 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32276665 / DOI : 10.1186/s13023-020-01366-z
N° Profil MNM : 2020041 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32276665 Voir aussiAvis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : Neuromuscular disorders : NMD, 29, 3 Titre : 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 Type de document : Article Auteurs : Pena LDM, Auteur ; Barohn RJ ; Byrne BJ ; Desnuelle C ; Goker-Alpan O ; Ladha S ; Laforêt P ; Mengel KE ; Pestronk A ; Pouget J ; Schoser B ; Straub V ; Trivedi J ; Van Damme P ; Vissing J ; Young P ; Kacena K ; Shafi R ; Thurberg BL ; Culm-Merdek K ; van der Ploeg AT Année de publication : 03/2019 Pages : p 167 Langues : Anglais (eng) Pubmed / DOI : DOI : 10.1016/j.nmd.2018.12.004 / Pubmed : 30770310
N° Profil MNM : 2019022 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/30770310 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : Amyotrophic lateral sclerosis & frontotemporal degeneration Titre : Phenotypic and genotypic studies of ALS cases in ALS-SMA families Type de document : Article Auteurs : Corcia P, Auteur ; Vourc'h P ; Blasco H ; Couratier P ; Dangoumau A ; Bellance R ; Desnuelle C ; Viader F ; Pautot V ; Millecamps S ; Bakkouche S ; Salachas F ; Andres CR ; Meininger V ; Camu W Année de publication : 01/03/2018 Langues : Anglais (eng) Mots-clés : amyotrophie spinale proximale liée à SMN1 ; analyse génétique ; diagnostic génétique ; examen clinique ; gène C9ORF72 ; gène SMN1 ; gène SOD1 ; mutation génétique ; phénotype ; physiopathologie ; sclérose latérale amyotrophique Pubmed / DOI : DOI : 10.1080/21678421.2018.1440406 / Pubmed : 29493298
N° Profil MNM : 2018031 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/29493298 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
Revue : American journal of physical medicine & rehabilitation, 96, 4 Titre : Short-TERM Neuromuscular Electrical Stimulation Training of the Tibialis Anterior Did Not Improve Strength and Motor Function in Facioscapulohumeral Muscular Dystrophy Patients Type de document : Article Auteurs : Doix AM, Auteur ; Roeleveld K ; Garcia J ; Lahaut P ; Tanant V ; Fournier-Mehouas M ; Desnuelle C ; Colson SS ; Sacconi S Année de publication : 2017 Pages : p e56 Langues : Anglais (eng) Mots-clés : adulte ; dystrophie musculaire facio-scapulo-humérale ; électromyographie ; étude cas-témoins ; examen complémentaire neuromusculaire ; féminin ; masculin ; membre inférieur ; motricité ; stimulation électrique Pubmed / DOI : DOI : 10.1097/PHM.0000000000000705 / Pubmed : 28129235
En ligne : http://www.ncbi.nlm.nih.gov/pubmed/28129235 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Facioscapulohumeral muscular dystrophy
Sacconi S, Salviati L, Desnuelle C
Biochimica et biophysica acta, 2014, 1852, 4, p 607
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Dystrophie musculaire facio-scapulo-humérale de type 2
Sacconi S, Desnuelle C
Les Cahiers de Myologie, 2014, 10, p. 5-10
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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
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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
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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
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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
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Tableau myopathique. Les signes cliniques permettant d'orienter le diagnostic
Sacconi S, Lahaut P, Desnuelle C
Neurologies, 2013, 16, 161, p. 288-293
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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
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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
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