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McMacken G

References (2)

Title : Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome - Donkervoort_2020_Am.J.Med.Genet.A_182_2272
Author(s) : Donkervoort S , Mohassel P , Laugwitz L , Zaki MS , Kamsteeg EJ , Maroofian R , Chao KR , Verschuuren-Bemelmans CC , Horber V , Fock AJM , McCarty RM , Jain MS , Biancavilla V , McMacken G , Nalls M , Voermans NC , Elbendary HM , Snyder M , Cai C , Lehky TJ , Stanley V , Iannaccone ST , Foley AR , Lochmuller H , Gleeson J , Houlden H , Haack TB , Horvath R , Bonnemann CG
Ref : American Journal of Medicine Genet A , 182 :2272 , 2020
Abstract : Donkervoort_2020_Am.J.Med.Genet.A_182_2272
ESTHER : Donkervoort_2020_Am.J.Med.Genet.A_182_2272
PubMedSearch : Donkervoort_2020_Am.J.Med.Genet.A_182_2272
PubMedID: 32776697

Title : Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea - Bauche_2016_Am.J.Hum.Genet_99_753
Author(s) : Bauche S , O'Regan S , Azuma Y , Laffargue F , McMacken G , Sternberg D , Brochier G , Buon C , Bouzidi N , Topf A , Lacene E , Remerand G , Beaufrere AM , Pebrel-Richard C , Thevenon J , El Chehadeh-Djebbar S , Faivre L , Duffourd Y , Ricci F , Mongini T , Fiorillo C , Astrea G , Burloiu CM , Butoianu N , Sandu C , Servais L , Bonne G , Nelson I , Desguerre I , Nougues MC , Boeuf B , Romero N , Laporte J , Boland A , Lechner D , Deleuze JF , Fontaine B , Strochlic L , Lochmuller H , Eymard B , Mayer M , Nicole S
Ref : American Journal of Human Genetics , 99 :753 , 2016
Abstract : Bauche_2016_Am.J.Hum.Genet_99_753
ESTHER : Bauche_2016_Am.J.Hum.Genet_99_753
PubMedSearch : Bauche_2016_Am.J.Hum.Genet_99_753
PubMedID: 27569547