Zschocke J

Title : Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome - Wortmann_2015_Neuropediatrics_46_98

Author(s) : Wortmann SB , van Hasselt PM , Baric I , Burlina A , Darin N , Horster F , Coker M , Ucar SK , Krumina Z , Naess K , Ngu LH , Pronicka E , Riordan G , Santer R , Wassmer E , Zschocke J , Schiff M , de Meirleir L , Alowain MA , Smeitink JA , Morava E , Kozicz T , Wevers RA , Wolf NI , Willemsen MA

Ref : Neuropediatrics , 46 :98 , 2015

Abstract :

PubMedSearch : Wortmann_2015_Neuropediatrics_46_98

PubMedID: 25642805

Gene_locus related to this paper: human-SERAC1

Title : Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature - Wortmann_2013_J.Inherit.Metab.Dis_36_923

Author(s) : Wortmann SB , Duran M , Anikster Y , Barth PG , Sperl W , Zschocke J , Morava E , Wevers RA

Ref : J Inherit Metab Dis , 36 :923 , 2013

Abstract :

PubMedSearch : Wortmann_2013_J.Inherit.Metab.Dis_36_923

PubMedID: 23296368

Gene_locus related to this paper: human-SERAC1

Zschocke J

References (2)

1. Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome - Wortmann_2015_Neuropediatrics_46_98

2. Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature - Wortmann_2013_J.Inherit.Metab.Dis_36_923