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| 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 : Genetic and phenotypic characterization of complex hereditary spastic paraplegia - Kara_2016_Brain_139_1904 |
| Author(s) : Kara E , Tucci A , Manzoni C , Lynch DS , Elpidorou M , Bettencourt C , Chelban V , Manole A , Hamed SA , Haridy NA , Federoff M , Preza E , Hughes D , Pittman A , Jaunmuktane Z , Brandner S , Xiromerisiou G , Wiethoff S , Schottlaender L , Proukakis C , Morris H , Warner T , Bhatia KP , Korlipara LV , Singleton AB , Hardy J , Wood NW , Lewis PA , Houlden H |
| Ref : Brain , 139 :1904 , 2016 |
| Abstract : Kara_2016_Brain_139_1904 |
| ESTHER : Kara_2016_Brain_139_1904 |
| PubMedSearch : Kara_2016_Brain_139_1904 |
| PubMedID: 27217339 |
| Title : Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes - Hufnagel_2015_J.Med.Genet_52_85 |
| Author(s) : Hufnagel RB , Arno G , Hein ND , Hersheson J , Prasad M , Anderson Y , Krueger LA , Gregory LC , Stoetzel C , Jaworek TJ , Hull S , Li A , Plagnol V , Willen CM , Morgan TM , Prows CA , Hegde RS , Riazuddin S , Grabowski GA , Richardson RJ , Dieterich K , Huang T , Revesz T , Martinez-Barbera JP , Sisk RA , Jefferies C , Houlden H , Dattani MT , Fink JK , Dollfus H , Moore AT , Ahmed ZM |
| Ref : Journal of Medical Genetics , 52 :85 , 2015 |
| Abstract : Hufnagel_2015_J.Med.Genet_52_85 |
| ESTHER : Hufnagel_2015_J.Med.Genet_52_85 |
| PubMedSearch : Hufnagel_2015_J.Med.Genet_52_85 |
| PubMedID: 25480986 |