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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

327 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Phenotype variability and natural history of X-linked myopathy with excessive autophagy.
Fernández-Eulate G, Alfieri G, Spinazzi M, Ackermann-Bonan I, Duval F, Solé G, Caillon F, Mercier S, Pereon Y, Magot A, Pegat A, Salort-Campana E, Chabrol B, Gorokhova S, Krahn M, Biancalana V, Evangelista T, Behin A, Metay C, Stojkovic T. Fernández-Eulate G, et al. Among authors: sole g. J Neurol. 2024 Jul;271(7):4008-4018. doi: 10.1007/s00415-024-12298-0. Epub 2024 Mar 22. J Neurol. 2024. PMID: 38517523
Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients.
Masat E, Laforêt P, De Antonio M, Corre G, Perniconi B, Taouagh N, Mariampillai K, Amelin D, Mauhin W, Hogrel JY, Caillaud C, Ronzitti G, Puzzo F, Kuranda K, Colella P, Mallone R, Benveniste O, Mingozzi F; French Pompe Registry Study Group. Masat E, et al. Sci Rep. 2016 Nov 4;6:36182. doi: 10.1038/srep36182. Sci Rep. 2016. PMID: 27812025 Free PMC article.
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments.
Salort-Campana E, Solé G, Magot A, Tard C, Noury JB, Behin A, De La Cruz E, Boyer F, Lefeuvre C, Masingue M, Debergé L, Finet A, Brison M, Spinazzi M, Pegat A, Sacconi S, Malfatti E, Choumert A, Bellance R, Bedat-Millet AL, Feasson L, Vuillerot C, Jacquin-Piques A, Michaud M, Pereon Y, Stojkovic T, Laforêt P, Attarian S, Cintas P. Salort-Campana E, et al. Among authors: sole g. Orphanet J Rare Dis. 2024 Jan 24;19(1):24. doi: 10.1186/s13023-023-03008-6. Orphanet J Rare Dis. 2024. PMID: 38268028 Free PMC article.
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. Eur J Neurol. 2024 Jul;31(7):e16292. doi: 10.1111/ene.16292. Epub 2024 Apr 8. Eur J Neurol. 2024. PMID: 38587143 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: sole g. Brain. 2024 Nov 4;147(11):3849-3862. doi: 10.1093/brain/awae124. Brain. 2024. PMID: 38696726 Free PMC article.
Clinical, paraclinical and outcome features of 166 patients with acute anti-GQ1b antibody syndrome.
Coly M, Adams D, Attarian S, Bouhour F, Camdessanché JP, Carey G, Cauquil C, Chanson JB, Chrétien P, Créange A, Delmont E, Fargeot G, Frachet S, Gendre T, Kuntzer T, Labeyrie C, Maisonobe T, Michaud M, Moulin M, Nicolas G, Noury JB, Péréon Y, Puma A, Sole G, Taithe F, Tard C, Théaudin M, Timsit S, Venditti L, Echaniz-Laguna A. Coly M, et al. Among authors: sole g. J Neurol. 2024 Aug;271(8):4982-4990. doi: 10.1007/s00415-024-12410-4. Epub 2024 May 20. J Neurol. 2024. PMID: 38767661
Clinical and pathological aspects of toxic myopathies.
Le Quang M, Solé G, Martin-Négrier ML, Mathis S. Le Quang M, et al. Among authors: sole g. J Neurol. 2024 Sep;271(9):5722-5745. doi: 10.1007/s00415-024-12522-x. Epub 2024 Jun 21. J Neurol. 2024. PMID: 38907023 Review.
French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD).
Attarian S, Beloribi-Djefaflia S, Bernard R, Nguyen K, Cances C, Gavazza C, Echaniz-Laguna A, Espil C, Evangelista T, Feasson L, Audic F, Zagorda B, Milhe De Bovis V, Stojkovic T, Sole G, Salort-Campana E, Sacconi S. Attarian S, et al. Among authors: sole g. J Neurol. 2024 Sep;271(9):5778-5803. doi: 10.1007/s00415-024-12538-3. Epub 2024 Jul 2. J Neurol. 2024. PMID: 38955828 Review.
Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry.
Retailleau E, Lefeuvre C, De Antonio M, Bouhour F, Tard C, Salort-Campana E, Lagrange E, Béhin A, Solé G, Noury JB, Sacconi S, Magot A, Pakleza AN, Orlikowski D, Beltran S, Spinazzi M, Cintas P, Fournier M, Bouibede F, Prigent H, Nicolas G, Taouagh N, El Guizani T, Attarian S, Arrassi A, Hamroun D, Laforêt P. Retailleau E, et al. Among authors: sole g. Eur J Neurol. 2024 Oct;31(10):e16428. doi: 10.1111/ene.16428. Epub 2024 Aug 7. Eur J Neurol. 2024. PMID: 39109844 Free PMC article.
327 results