MuSK Is Required for Anchoring Acetylcholinesterase at the Neuromuscular Junction

Autor: Cartaud, Annie, Strochlic, Laure, Guerra, Manuel, Blanchard, Benoît, Lambergeon, Monique, Krejci, Eric, Cartaud, Jean, Legay, Claire

Publikováno v: The Journal of Cell Biology, 2004 May . 165(4), 505-515.

Externí odkaz: https://www.jstor.org/stable/1622150

MAGI-1c: A Synaptic MAGUK Interacting with MuSK at the Vertebrate Neuromuscular Junction

Autor: Strochlic, Laure, Cartaud, Annie, Labas, Valérie, Hoch, Werner, Rossier, Jean, Cartaud, Jean

Publikováno v: The Journal of Cell Biology, 2001 May . 153(5), 1127-1132.

Externí odkaz: https://www.jstor.org/stable/1620532

New mutation in the beta 1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome

Autor: Bauché, Stéphanie, Masingue, Marion, Cattaneo, Olivia, Sternberg, Damien, Buon, Céline, Euchparmakian, Morgane, Mamchaoui, Kamel, Maisonobe, Thierry, Fontaine, Bertrand, Muchir, Antoine, strochlic, laure, Eymard, Bruno

Publikováno v: Myology
Myology, Sep 2022, Nice, France
journées de la société française de myologie
journées de la société française de myologie, Nov 2022, Toulouse, France

International audience; Congenital myasthenic syndromes are a clinically and genetically heterogeneous group of inherited disorders caused by defective synaptic transmission at the neuromuscular junction, characterized by muscle weakness and fatigabi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::be1831dac17fbefc0188714a5a252e88
https://hal.science/hal-03994152

Genesis of muscle fiber-type diversity during mouse embryogenesis relies on Six1 and Six4 gene expression

Autor: Richard, Anne-Françoise ^{a, b}, Demignon, Josiane ^{a, b}, Sakakibara, Iori ^{a, b}, Pujol, Julien ^{a, b}, Favier, Maryline ^{a, b}, Strochlic, Laure ^c, Le Grand, Fabien ^{a, b}, Sgarioto, Nicolas ^{a, b}, Guernec, Anthony ^{a, b}, Schmitt, Alain ^{a, b}, Cagnard, Nicolas ^d, Huang, Ruijin ^e, Legay, Claire ^c, Guillet-Deniau, Isabelle ^{a, b}, Maire, Pascal ^{a, b, ⁎}

Publikováno v: In Developmental Biology 15 November 2011 359(2):303-320

Identification of a new splice site mutation in synaptotagmin-2 responsible for a severe and early presynaptic form of congenital myasthenic syndrome

Autor: Bauché, Stéphanie, Sternberg, Damien, Buon, Céline, Messéant, Julien, Boëx, Myriam, Gelot, Antoinette-Bernabe, Mayer, Michèle, Furling, Denis, Nouguès, Marie-Christine, Eymard, Bruno, Isapof, Arnaud, strochlic, laure, Sureau, Alain, Fontaine, Bertrand, Rendu, John

Publikováno v: World muscle society
World muscle society, Sep 2021, Online, France
journées de la société française de myologie
journées de la société française de myologie, Nov 2019, Marseille (13), France

International audience; Congenital myasthenic syndromes (CMS) are a clinically and genetically heterogeneous group of inherited disorders caused by defective synaptic transmission at the neuromuscular junction (NMJ) and characterized by fluctuation o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8fcc357c931663a21ed09ef5c5a3d649
https://hal.science/hal-03994061