Davoine CS

Title : Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome - Bauche_2013_Neuromuscul.Disord_23_998

Author(s) : Bauche S , Boerio D , Davoine CS , Bernard V , Stum M , Bureau C , Fardeau M , Romero NB , Fontaine B , Koenig J , Hantai D , Gueguen A , Fournier E , Eymard B , Nicole S

Ref : Neuromuscular Disorders , 23 :998 , 2013

Abstract :

PubMedSearch : Bauche_2013_Neuromuscul.Disord_23_998

PubMedID: 24011702

Title : Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia - Stum_2008_Hum.Mol.Genet_17_3166

Author(s) : Stum M , Girard E , Bangratz M , Bernard V , Herbin M , Vignaud A , Ferry A , Davoine CS , Echaniz-Laguna A , Rene F , Marcel C , Molgo J , Fontaine B , Krejci E , Nicole S

Ref : Hum Mol Genet , 17 :3166 , 2008

Abstract :

PubMedSearch : Stum_2008_Hum.Mol.Genet_17_3166

PubMedID: 18647752

Davoine CS

References (2)

1. Peripheral nerve hyperexcitability with preterminal nerve and neuromuscular junction remodeling is a hallmark of Schwartz-Jampel syndrome - Bauche_2013_Neuromuscul.Disord_23_998

2. Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia - Stum_2008_Hum.Mol.Genet_17_3166