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

552 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.
Bauché S, Vellieux G, Sternberg D, Fontenille MJ, De Bruyckere E, Davoine CS, Brochier G, Messéant J, Wolf L, Fardeau M, Lacène E, Romero N, Koenig J, Fournier E, Hantaï D, Streichenberger N, Manel V, Lacour A, Nadaj-Pakleza A, Sukno S, Bouhour F, Laforêt P, Fontaine B, Strochlic L, Eymard B, Chevessier F, Stojkovic T, Nicole S. Bauché S, et al. Among authors: fardeau m. J Neurol. 2017 Aug;264(8):1791-1803. doi: 10.1007/s00415-017-8569-x. Epub 2017 Jul 15. J Neurol. 2017. PMID: 28712002
Clinical and histologic findings in autosomal centronuclear myopathy.
Jeannet PY, Bassez G, Eymard B, Laforêt P, Urtizberea JA, Rouche A, Guicheney P, Fardeau M, Romero NB. Jeannet PY, et al. Among authors: fardeau m. Neurology. 2004 May 11;62(9):1484-90. doi: 10.1212/01.wnl.0000124388.67003.56. Neurology. 2004. PMID: 15136669 Review.
Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7.
Ben Ammar A, Petit F, Alexandri N, Gaudon K, Bauché S, Rouche A, Gras D, Fournier E, Koenig J, Stojkovic T, Lacour A, Petiot P, Zagnoli F, Viollet L, Pellegrini N, Orlikowski D, Lazaro L, Ferrer X, Stoltenburg G, Paturneau-Jouas M, Hentati F, Fardeau M, Sternberg D, Hantaï D, Richard P, Eymard B. Ben Ammar A, et al. Among authors: fardeau m. J Neurol. 2010 May;257(5):754-66. doi: 10.1007/s00415-009-5405-y. Epub 2009 Dec 11. J Neurol. 2010. PMID: 20012313
[Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience].
Eymard B, Stojkovic T, Sternberg D, Richard P, Nicole S, Fournier E, Béhin A, Laforêt P, Servais L, Romero N, Fardeau M, Hantaï D; Membres du réseau national Syndromes Myasthéniques Congénitaux. Eymard B, et al. Among authors: fardeau m. Rev Neurol (Paris). 2013 Feb;169 Suppl 1:S45-55. doi: 10.1016/S0035-3787(13)70060-2. Rev Neurol (Paris). 2013. PMID: 23452772 Review. French.
Electrophysiological and morphological characterization of a case of autosomal recessive congenital myasthenic syndrome with acetylcholine receptor deficiency due to a N88K rapsyn homozygous mutation.
Yasaki E, Prioleau C, Barbier J, Richard P, Andreux F, Leroy JP, Dartevelle P, Koenig J, Molgó J, Fardeau M, Eymard B, Hantaï D. Yasaki E, et al. Among authors: fardeau m. Neuromuscul Disord. 2004 Jan;14(1):24-32. doi: 10.1016/j.nmd.2003.07.002. Neuromuscul Disord. 2004. PMID: 14659409
MUSK, a new target for mutations causing congenital myasthenic syndrome.
Chevessier F, Faraut B, Ravel-Chapuis A, Richard P, Gaudon K, Bauché S, Prioleau C, Herbst R, Goillot E, Ioos C, Azulay JP, Attarian S, Leroy JP, Fournier E, Legay C, Schaeffer L, Koenig J, Fardeau M, Eymard B, Pouget J, Hantaï D. Chevessier F, et al. Among authors: fardeau m. Hum Mol Genet. 2004 Dec 15;13(24):3229-40. doi: 10.1093/hmg/ddh333. Epub 2004 Oct 20. Hum Mol Genet. 2004. PMID: 15496425
[Pathophysiological characterization of congenital myasthenic syndromes: the example of mutations in the MUSK gene].
Chevessier F, Faraut B, Ravel-Chapuis A, Richard P, Gaudon K, Bauché S, Prioleau C, Herbst R, Goillot E, Ioos C, Azulay JP, Attarian S, Leroy JP, Fournier E, Legay C, Schaeffer L, Koenig J, Fardeau M, Eymard B, Pouget J, Hantaï D. Chevessier F, et al. Among authors: fardeau m. J Soc Biol. 2005;199(1):61-77. doi: 10.1051/jbio:2005008. J Soc Biol. 2005. PMID: 16114265 French.
Mutations in dynamin 2 cause dominant centronuclear myopathy.
Bitoun M, Maugenre S, Jeannet PY, Lacène E, Ferrer X, Laforêt P, Martin JJ, Laporte J, Lochmüller H, Beggs AH, Fardeau M, Eymard B, Romero NB, Guicheney P. Bitoun M, et al. Among authors: fardeau m. Nat Genet. 2005 Nov;37(11):1207-9. doi: 10.1038/ng1657. Epub 2005 Oct 16. Nat Genet. 2005. PMID: 16227997 Free article.
552 results