TY  - GEN
AU  - Stum,Morgane
AU  - Girard,Emmanuelle
AU  - Bangratz,Marie
AU  - Bernard,Véronique
AU  - Herbin,Marc
AU  - Vignaud,Alban
AU  - Ferry,Arnaud
AU  - Davoine,Claire-Sophie
AU  - Echaniz-Laguna,Andoni
AU  - René,Frédérique
AU  - Marcel,Christophe
AU  - Molgó,Jordi
AU  - Fontaine,Bertrand
AU  - Krejci,Eric
AU  - Nicole,Sophie
TI  - Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia
SN  - 1460-2083
PY  - 2008///1112
KW  - Acetylcholinesterase
KW  - deficiency
KW  - Alleles
KW  - Animals
KW  - Disease Models, Animal
KW  - Electromyography
KW  - Female
KW  - Gene Dosage
KW  - Heparan Sulfate Proteoglycans
KW  - Humans
KW  - Isaacs Syndrome
KW  - enzymology
KW  - Male
KW  - Mice
KW  - Mice, Inbred C57BL
KW  - Mice, Mutant Strains
KW  - Mice, Transgenic
KW  - Motor Endplate
KW  - Muscle Contraction
KW  - genetics
KW  - Mutation, Missense
KW  - Osteochondrodysplasias
KW  - Phenotype
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/hmg/ddn213
ER  -