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

314 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia.
Stum M, Girard E, Bangratz M, Bernard V, Herbin M, Vignaud A, Ferry A, Davoine CS, Echaniz-Laguna A, René F, Marcel C, Molgó J, Fontaine B, Krejci E, Nicole S. Stum M, et al. Among authors: bernard v. Hum Mol Genet. 2008 Oct 15;17(20):3166-79. doi: 10.1093/hmg/ddn213. Epub 2008 Jul 21. Hum Mol Genet. 2008. PMID: 18647752
Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans.
Dupuis N, Fafouri A, Bayot A, Kumar M, Lecharpentier T, Ball G, Edwards D, Bernard V, Dournaud P, Drunat S, Vermelle-Andrzejewski M, Vilain C, Abramowicz M, Désir J, Bonaventure J, Gareil N, Boncompain G, Csaba Z, Perez F, Passemard S, Gressens P, El Ghouzzi V. Dupuis N, et al. Among authors: bernard v. Hum Mol Genet. 2015 May 15;24(10):2771-83. doi: 10.1093/hmg/ddv038. Epub 2015 Feb 4. Hum Mol Genet. 2015. PMID: 25652408 Free article.
KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects.
Bowerman M, Salsac C, Bernard V, Soulard C, Dionne A, Coque E, Benlefki S, Hince P, Dion PA, Butler-Browne G, Camu W, Bouchard JP, Delpire E, Rouleau GA, Raoul C, Scamps F. Bowerman M, et al. Among authors: bernard v. Neurobiol Dis. 2017 Oct;106:35-48. doi: 10.1016/j.nbd.2017.06.013. Epub 2017 Jun 21. Neurobiol Dis. 2017. PMID: 28647557
Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome.
Bauché S, Boerio D, Davoine CS, Bernard V, Stum M, Bureau C, Fardeau M, Romero NB, Fontaine B, Koenig J, Hantaï D, Gueguen A, Fournier E, Eymard B, Nicole S. Bauché S, et al. Among authors: bernard v. Neuromuscul Disord. 2013 Dec;23(12):998-1009. doi: 10.1016/j.nmd.2013.07.005. Epub 2013 Sep 4. Neuromuscul Disord. 2013. PMID: 24011702
314 results