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Wevers RA

References (8)

Title : Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases - Maas_2017_Ann.Neurol_82_1004
Author(s) : Maas RR , Iwanicka-Pronicka K , Kalkan Ucar S , Alhaddad B , AlSayed M , Al-Owain MA , Al-Zaidan HI , Balasubramaniam S , Baric I , Bubshait DK , Burlina A , Christodoulou J , Chung WK , Colombo R , Darin N , Freisinger P , Garcia Silva MT , Grunewald S , Haack TB , van Hasselt PM , Hikmat O , Horster F , Isohanni P , Ramzan K , Kovacs-Nagy R , Krumina Z , Martin-Hernandez E , Mayr JA , McClean P , de Meirleir L , Naess K , Ngu LH , Pajdowska M , Rahman S , Riordan G , Riley L , Roeben B , Rutsch F , Santer R , Schiff M , Seders M , Sequeira S , Sperl W , Staufner C , Synofzik M , Taylor RW , Trubicka J , Tsiakas K , Unal O , Wassmer E , Wedatilake Y , Wolff T , Prokisch H , Morava E , Pronicka E , Wevers RA , de Brouwer AP , Wortmann SB
Ref : Annals of Neurology , 82 :1004 , 2017
Abstract :
PubMedSearch : Maas_2017_Ann.Neurol_82_1004
PubMedID: 29205472
Gene_locus related to this paper: human-SERAC1

Title : MEGDEL Syndrome: Expanding the Phenotype and New Mutations -
Author(s) : Sequeira S , Rodrigues M , Jacinto S , Wevers RA , Wortmann SB
Ref : Neuropediatrics , 48 :382 , 2017
PubMedID: 28505671
Gene_locus related to this paper: human-SERAC1

Title : Cerebral lipid accumulation in Chanarin-Dorfman Syndrome - Huigen_2015_Mol.Genet.Metab_114_51
Author(s) : Huigen MC , van der Graaf M , Morava E , Dassel AC , van Steensel MA , Seyger MM , Wevers RA , Willemsen MA
Ref : Mol Genet Metab , 114 :51 , 2015
Abstract :
PubMedSearch : Huigen_2015_Mol.Genet.Metab_114_51
PubMedID: 25468645

Title : Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids - Wortmann_2015_J.Inherit.Metab.Dis_38_99
Author(s) : Wortmann SB , Espeel M , Almeida L , Reimer A , Bosboom D , Roels F , de Brouwer AP , Wevers RA
Ref : J Inherit Metab Dis , 38 :99 , 2015
Abstract :
PubMedSearch : Wortmann_2015_J.Inherit.Metab.Dis_38_99
PubMedID: 25178427

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 : Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect - Wortmann_2014_JIMD.Rep_16_1
Author(s) : Wortmann SB , Kluijtmans LA , Sequeira S , Wevers RA , Morava E
Ref : JIMD Rep , 16 :1 , 2014
Abstract :
PubMedSearch : Wortmann_2014_JIMD.Rep_16_1
PubMedID: 24757000

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

Title : Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness - Wortmann_2012_Nat.Genet_44_797
Author(s) : Wortmann SB , Vaz FM , Gardeitchik T , Vissers LE , Renkema GH , Schuurs-Hoeijmakers JH , Kulik W , Lammens M , Christin C , Kluijtmans LA , Rodenburg RJ , Nijtmans LG , Grunewald A , Klein C , Gerhold JM , Kozicz T , van Hasselt PM , Harakalova M , Kloosterman W , Baric I , Pronicka E , Ucar SK , Naess K , Singhal KK , Krumina Z , Gilissen C , van Bokhoven H , Veltman JA , Smeitink JA , Lefeber DJ , Spelbrink JN , Wevers RA , Morava E , de Brouwer AP
Ref : Nat Genet , 44 :797 , 2012
Abstract :
PubMedSearch : Wortmann_2012_Nat.Genet_44_797
PubMedID: 22683713
Gene_locus related to this paper: human-SERAC1