| 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 : Wortmann_2015_Neuropediatrics_46_98 |
| ESTHER : Wortmann_2015_Neuropediatrics_46_98 |
| PubMedSearch : Wortmann_2015_Neuropediatrics_46_98 |
| PubMedID: 25642805 |
| 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 : Huigen_2015_Mol.Genet.Metab_114_51 |
| ESTHER : Huigen_2015_Mol.Genet.Metab_114_51 |
| PubMedSearch : Huigen_2015_Mol.Genet.Metab_114_51 |
| PubMedID: 25468645 |
| 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 : Wortmann_2014_JIMD.Rep_16_1 |
| ESTHER : Wortmann_2014_JIMD.Rep_16_1 |
| 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 : Wortmann_2013_J.Inherit.Metab.Dis_36_923 |
| ESTHER : Wortmann_2013_J.Inherit.Metab.Dis_36_923 |
| 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 : Wortmann_2012_Nat.Genet_44_797 |
| ESTHER : Wortmann_2012_Nat.Genet_44_797 |
| PubMedSearch : Wortmann_2012_Nat.Genet_44_797 |
| PubMedID: 22683713 |
| Gene_locus related to this paper: human-SERAC1 |
| Title : The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy - Fischer_2007_Nat.Genet_39_28 |
| Author(s) : Fischer J , Lefevre C , Morava E , Mussini JM , Laforet P , Negre-Salvayre A , Lathrop M , Salvayre R |
| Ref : Nat Genet , 39 :28 , 2007 |
| Abstract : Fischer_2007_Nat.Genet_39_28 |
| ESTHER : Fischer_2007_Nat.Genet_39_28 |
| PubMedSearch : Fischer_2007_Nat.Genet_39_28 |
| PubMedID: 17187067 |
| Title : Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation - Wortmann_2006_Mol.Genet.Metab_88_47 |
| Author(s) : Wortmann S , Rodenburg RJ , Huizing M , Loupatty FJ , de Koning T , Kluijtmans LA , Engelke U , Wevers R , Smeitink JA , Morava E |
| Ref : Mol Genet Metab , 88 :47 , 2006 |
| Abstract : Wortmann_2006_Mol.Genet.Metab_88_47 |
| ESTHER : Wortmann_2006_Mol.Genet.Metab_88_47 |
| PubMedSearch : Wortmann_2006_Mol.Genet.Metab_88_47 |
| PubMedID: 16527507 |
| Gene_locus related to this paper: human-SERAC1 |