Title : Clinical features and evolution of juvenile myasthenia gravis in a French cohort - Barraud_2018_Muscle.Nerve_57_603 |
Author(s) : Barraud C , Desguerre I , Barnerias C , Gitiaux C , Boulay C , Chabrol B |
Ref : Muscle & Nerve , 57 :603 , 2018 |
Abstract : |
PubMedSearch : Barraud_2018_Muscle.Nerve_57_603 |
PubMedID: 28877546 |
Title : Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome - Chabrol_2009_BMJ.Case.Rep_2009_ |
Author(s) : Chabrol B , Martens K , Meulemans S , Cano A , Jaeken J , Matthijs G , Creemers JW |
Ref : BMJ Case Rep , 2009 : , 2009 |
Abstract : |
PubMedSearch : Chabrol_2009_BMJ.Case.Rep_2009_ |
PubMedID: 21686663 |
Title : Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome - Chabrol_2008_J.Med.Genet_45_314 |
Author(s) : Chabrol B , Martens K , Meulemans S , Cano A , Jaeken J , Matthijs G , Creemers JW |
Ref : Journal of Medical Genetics , 45 :314 , 2008 |
Abstract : |
PubMedSearch : Chabrol_2008_J.Med.Genet_45_314 |
PubMedID: 18234729 |
Gene_locus related to this paper: human-PREPL |
Title : The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa - Richard_2008_Neurology_71_1967 |
Author(s) : Richard P , Gaudon K , Haddad H , Ammar AB , Genin E , Bauche S , Paturneau-Jouas M , Muller JS , Lochmuller H , Grid D , Hamri A , Nouioua S , Tazir M , Mayer M , Desnuelle C , Barois A , Chabrol B , Pouget J , Koenig J , Gouider-Khouja N , Hentati F , Eymard B , Hantai D |
Ref : Neurology , 71 :1967 , 2008 |
Abstract : |
PubMedSearch : Richard_2008_Neurology_71_1967 |
PubMedID: 19064877 |
Title : Hereditary motor and sensory neuropathy--Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries - Chandler_2000_Neuromuscul.Disord_10_584 |
Author(s) : Chandler D , Angelicheva D , Heather L , Gooding R , Gresham D , Yanakiev P , de Jonge R , Baas F , Dye D , Karagyozov L , Savov A , Blechschmidt K , Keats B , Thomas PK , King RH , Starr A , Nikolova A , Colomer J , Ishpekova B , Tournev I , Urtizberea JA , Merlini L , Butinar D , Chabrol B , Voit T , Baethmann M , Nedkova V , Corches A , Kalaydjieva L |
Ref : Neuromuscular Disorders , 10 :584 , 2000 |
Abstract : |
PubMedSearch : Chandler_2000_Neuromuscul.Disord_10_584 |
PubMedID: 11053686 |