Talim B

References (3)

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Author(s) : Wong HH , Seet SH , Maier M , Gurel A , Traspas RM , Lee C , Zhang S , Talim B , Loh AYT , Chia CY , Teoh TS , Sng D , Rensvold J , Unal S , Shishkova E , Cepni E , Nathan FM , Sirota FL , Liang C , Yarali N , Simsek-Kiper PO , Mitani T , Ceylaner S , Arman-Bilir O , Mbarek H , Gumruk F , Efthymiou S , Ugurlu Ci Men D , Georgiadou D , Sotiropoulou K , Houlden H , Paul F , Pehlivan D , Laine C , Chai G , Ali NA , Choo SC , Keng SS , Boisson B , Yilmaz E , Xue S , Coon JJ , Ly TTN , Gilani N , Hasbini D , Kayserili H , Zaki MS , Isfort RJ , Ordonez N , Tripolszki K , Bauer P , Rezaei N , Seyedpour S , Khotaei GT , Bascom CC , Maroofian R , Chaabouni M , Alsubhi A , Eyaid W , Isikay S , Gleeson JG , Lupski JR , Casanova JL , Pagliarini DJ , Akarsu NA , Maurer-Stroh S , Cetinkaya A , Bertoli-Avella A , Mathuru AS , Ho L , Bard FA , Reversade B
Ref : American Journal of Human Genetics , 108 :1301 , 2021
Abstract :
PubMedSearch : Wong_2021_Am.J.Hum.Genet_108_1301
PubMedID: 34038740
Gene_locus related to this paper: human-cb069

Title : Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations - Schara_2010_Eur.J.Paediatr.Neurol_14_326
Author(s) : Schara U , Christen HJ , Durmus H , Hietala M , Krabetz K , Rodolico C , Schreiber G , Topaloglu H , Talim B , Voss W , Pihko H , Abicht A , Muller JS , Lochmuller H
Ref : Eur J Paediatr Neurol , 14 :326 , 2010
Abstract :
PubMedSearch : Schara_2010_Eur.J.Paediatr.Neurol_14_326
PubMedID: 19900826

Title : A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity - Jimenez-Mallebrera_2009_Brain.Pathol_19_596
Author(s) : Jimenez-Mallebrera C , Torelli S , Feng L , Kim J , Godfrey C , Clement E , Mein R , Abbs S , Brown SC , Campbell KP , Kroger S , Talim B , Topaloglu H , Quinlivan R , Roper H , Childs AM , Kinali M , Sewry CA , Muntoni F
Ref : Brain Pathology , 19 :596 , 2009
Abstract :
PubMedSearch : Jimenez-Mallebrera_2009_Brain.Pathol_19_596
PubMedID: 18691338