Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

339 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation.
Karazi W, Scalco RS, Stemmerik MG, Løkken N, Lucia A, Santalla A, Martinuzzi A, Vavla M, Reni G, Toscano A, Musumeci O, Kouwenberg CV, Laforêt P, Millán BS, Vieitez I, Siciliano G, Kühnle E, Trost R, Sacconi S, Durmus H, Kierdaszuk B, Wakelin A, Andreu AL, Pinós T, Marti R, Quinlivan R, Vissing J, Voermans NC; EUROMAC Consortium. Karazi W, et al. Among authors: laforet p. Orphanet J Rare Dis. 2023 Jul 25;18(1):210. doi: 10.1186/s13023-023-02825-z. Orphanet J Rare Dis. 2023. PMID: 37488619 Free PMC article.
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Theuriet J, Masingue M, Behin A, Ferreiro A, Bassez G, Jaubert P, Tarabay O, Fer F, Pegat A, Bouhour F, Svahn J, Petiot P, Jomir L, Chauplannaz G, Cornut-Chauvinc C, Manel V, Salort-Campana E, Attarian S, Fortanier E, Verschueren A, Kouton L, Camdessanché JP, Tard C, Magot A, Péréon Y, Noury JB, Minot-Myhie MC, Perie M, Taithe F, Farhat Y, Millet AL, Cintas P, Solé G, Spinazzi M, Esselin F, Renard D, Sacconi S, Ezaru A, Malfatti E, Mallaret M, Magy L, Diab E, Merle P, Michaud M, Fournier M, Pakleza AN, Chanson JB, Lefeuvre C, Laforet P, Richard P, Sternberg D, Villar-Quiles RN, Stojkovic T, Eymard B. Theuriet J, et al. Among authors: laforet p. Brain. 2024 May 2:awae124. doi: 10.1093/brain/awae124. Online ahead of print. Brain. 2024. PMID: 38696726
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.
Tard C, Bouhour F, Michaud M, Beltran S, Fournier M, Demurger F, Lagrange E, Nollet S, Sacconi S, Noury JB, Magot A, Cintas P, Renard D, Deibener-Kaminsky J, Lefeuvre C, Davion JB, Salort-Campana E, Arrassi A, Taouagh N, Spinazzi M; Pompe Study Group; Attarian S, Laforêt P. Tard C, et al. Among authors: laforet p. Eur J Neurol. 2024 Apr 8:e16292. doi: 10.1111/ene.16292. Online ahead of print. Eur J Neurol. 2024. PMID: 38587143
104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07).
Schoser B, Kishnani PS, Bratkovic D, Byrne BJ, Claeys KG, Díaz-Manera J, Laforêt P, Roberts M, Toscano A, van der Ploeg AT, Castelli J, Goldman M, Holdbrook F, Sitaraman Das S, Wasfi Y, Mozaffar T; ATB200-07 Study Group. Schoser B, et al. Among authors: laforet p. J Neurol. 2024 May;271(5):2810-2823. doi: 10.1007/s00415-024-12236-0. Epub 2024 Feb 28. J Neurol. 2024. PMID: 38418563 Free PMC article. Clinical Trial.
Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis.
Esteller D, Schiava M, Verdú-Díaz J, Villar-Quiles RN, Dibowski B, Venturelli N, Laforet P, Alonso-Pérez J, Olive M, Domínguez-González C, Paradas C, Vélez B, Kostera-Pruszczyk A, Kierdaszuk B, Rodolico C, Claeys K, Pál E, Malfatti E, Souvannanorath S, Alonso-Jiménez A, de Ridder W, De Smet E, Papadimas G, Papadopoulos C, Xirou S, Luo S, Muelas N, Vilchez JJ, Ramos-Fransi A, Monforte M, Tasca G, Udd B, Palmio J, Sri S, Krause S, Schoser B, Fernández-Torrón R, López de Munain A, Pegoraro E, Farrugia ME, Vorgerd M, Manousakis G, Chanson JB, Nadaj-Pakleza A, Cetin H, Badrising U, Warman-Chardon J, Bevilacqua J, Earle N, Campero M, Díaz J, Ikenaga C, Lloyd TE, Nishino I, Nishimori Y, Saito Y, Oya Y, Takahashi Y, Nishikawa A, Sasaki R, Marini-Bettolo C, Guglieri M, Straub V, Stojkovic T, Carlier RY, Díaz-Manera J. Esteller D, et al. Among authors: laforet p. J Neurol. 2024 Apr;271(4):2147-2148. doi: 10.1007/s00415-023-12178-z. J Neurol. 2024. PMID: 38349561 Free PMC article. No abstract available.
339 results