| 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 : |
| PubMedSearch : Donkervoort_2020_Am.J.Med.Genet.A_182_2272 |
| PubMedID: 32776697 |
| 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 : |
| PubMedSearch : Donkervoort_2020_Am.J.Med.Genet.A_182_2272 |
| PubMedID: 32776697 |
| 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 : |
| PubMedSearch : Donkervoort_2020_Am.J.Med.Genet.A_182_2272 |
| PubMedID: 32776697 |
| Title : Congenital myasthenic syndrome with sleep hypoventilation - Iannaccone_2000_Muscle.Nerve_23_1129 |
| Author(s) : Iannaccone ST , Mills JK , Harris KM , Herman JH , Schochet P , Luckett P |
| Ref : Muscle & Nerve , 23 :1129 , 2000 |
| Abstract : |
| PubMedSearch : Iannaccone_2000_Muscle.Nerve_23_1129 |
| PubMedID: 10883011 |
| Title : Congenital myasthenic syndrome with sleep hypoventilation - Iannaccone_2000_Muscle.Nerve_23_1129 |
| Author(s) : Iannaccone ST , Mills JK , Harris KM , Herman JH , Schochet P , Luckett P |
| Ref : Muscle & Nerve , 23 :1129 , 2000 |
| Abstract : |
| PubMedSearch : Iannaccone_2000_Muscle.Nerve_23_1129 |
| PubMedID: 10883011 |
| Title : Congenital myasthenic syndrome with sleep hypoventilation - Iannaccone_2000_Muscle.Nerve_23_1129 |
| Author(s) : Iannaccone ST , Mills JK , Harris KM , Herman JH , Schochet P , Luckett P |
| Ref : Muscle & Nerve , 23 :1129 , 2000 |
| Abstract : |
| PubMedSearch : Iannaccone_2000_Muscle.Nerve_23_1129 |
| PubMedID: 10883011 |