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

249 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Glycogenin-1 deficiency mimicking limb-girdle muscular dystrophy.
Lefeuvre C, Schaeffer S, Carlier RY, Fournier M, Chapon F, Biancalana V, Nicolas G, Malfatti E, Laforêt P. Lefeuvre C, et al. Mol Genet Metab Rep. 2020 May 24;24:100597. doi: 10.1016/j.ymgmr.2020.100597. eCollection 2020 Sep. Mol Genet Metab Rep. 2020. PMID: 32477874 Free PMC article.
Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations.
Vázquez J, Lefeuvre C, Escobar RE, Luna Angulo AB, Miranda Duarte A, Delia Hernandez A, Brisset M, Carlier RY, Leturcq F, Durand-Canard MC, Nicolas G, Laforet P, Malfatti E. Vázquez J, et al. J Neuromuscul Dis. 2020;7(4):443-451. doi: 10.3233/JND-200515. J Neuromuscul Dis. 2020. PMID: 32925086
Macroglossia: A potentially severe complication of late-onset Pompe disease.
Dupé C, Lefeuvre C, Solé G, Behin A, Pottier C, Duval F, Carlier RY, Prigent H, Lacau St Guily J, Arrassi A, Taouagh N, Hamroun D, Nicolas G, Laforêt P. Dupé C, et al. Eur J Neurol. 2022 Jul;29(7):2121-2128. doi: 10.1111/ene.15330. Epub 2022 Apr 1. Eur J Neurol. 2022. PMID: 35302691
Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study.
van der Ploeg A, Carlier PG, Carlier RY, Kissel JT, Schoser B, Wenninger S, Pestronk A, Barohn RJ, Dimachkie MM, Goker-Alpan O, Mozaffar T, Pena LD, Simmons Z, Straub V, Guglieri M, Young P, Boentert M, Baudin PY, Wens S, Shafi R, Bjartmar C, Thurberg BL. van der Ploeg A, et al. Among authors: carlier pg, carlier ry. Mol Genet Metab. 2016 Sep;119(1-2):115-23. doi: 10.1016/j.ymgme.2016.05.013. Epub 2016 May 19. Mol Genet Metab. 2016. PMID: 27473031 Free article. Clinical Trial.
249 results