| Title : The clinical and molecular landscape of congenital myasthenic syndromes in Austria: a nationwide study - Krenn_2022_J.Neurol__ |
| Author(s) : Krenn M , Sener M , Rath J , Zulehner G , Keritam O , Wagner M , Laccone F , Iglseder S , Marte S , Baumgartner M , Eisenkolbl A , Liechtenstein C , Rudnik S , Quasthoff S , Grinzinger S , Spenger J , Wortmann SB , Loscher WN , Zimprich F , Kellersmann A , Rappold M , Bernert G , Freilinger M , Cetin H |
| Ref : Journal of Neurology , : , 2022 |
| Abstract : |
| PubMedSearch : Krenn_2022_J.Neurol__ |
| PubMedID: 36308527 |
| Title : SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family - Roeben_2018_J.Med.Genet_55_39 |
| Author(s) : Roeben B , Schule R , Ruf S , Bender B , Alhaddad B , Benkert T , Meitinger T , Reich S , Bohringer J , Langhans CD , Vaz FM , Wortmann SB , Marquardt T , Haack TB , Krageloh-Mann I , Schols L , Synofzik M |
| Ref : Journal of Medical Genetics , 55 :39 , 2018 |
| Abstract : |
| PubMedSearch : Roeben_2018_J.Med.Genet_55_39 |
| PubMedID: 28916646 |
| Gene_locus related to this paper: human-SERAC1 |
| Title : HTRA2 Defect: A Recognizable Inborn Error of Metabolism with 3-Methylglutaconic Aciduria as Discriminating Feature Characterized by Neonatal Movement Disorder and Epilepsy-Report of 11 Patients - Kovacs-Nagy_2018_Neuropediatrics_49_373 |
| Author(s) : Kovacs-Nagy R , Morin G , Nouri MA , Brandau O , Saadi NW , van den Broek F , Prokisch H , Mayr JA , Wortmann SB |
| Ref : Neuropediatrics , 49 :373 , 2018 |
| Abstract : |
| PubMedSearch : Kovacs-Nagy_2018_Neuropediatrics_49_373 |
| PubMedID: 30114719 |
| 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 : 3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency - Rokicki_2017_Clin.Chim.Acta_471_95 |
| Author(s) : Rokicki D , Pajdowska M , Trubicka J , Thong MK , Ciara E , Piekutowska-Abramczuk D , Pronicki M , Sikora R , Haidar R , Oltarzewski M , Jablonska E , Muthukumarasamy P , Sthaneswar P , Gan CS , Krajewska-Walasek M , Carrozzo R , Verrigni D , Semeraro M , Rizzo C , Taurisano R , Alhaddad B , Kovacs-Nagy R , Haack TB , Dionisi-Vici C , Pronicka E , Wortmann SB |
| Ref : Clinica Chimica Acta , 471 :95 , 2017 |
| Abstract : |
| PubMedSearch : Rokicki_2017_Clin.Chim.Acta_471_95 |
| PubMedID: 28526534 |
| Title : Diagnosis and Management of Drooling in Children With Progressive Dystonia: A Case Series of Patients With MEGDEL Syndrome - Blommaert_2016_J.Child.Neurol_31_1220 |
| Author(s) : Blommaert D , van Hulst K , Hoogen FJ , Erasmus CE , Wortmann SB |
| Ref : Journal of Child Neurology , 31 :1220 , 2016 |
| Abstract : |
| PubMedSearch : Blommaert_2016_J.Child.Neurol_31_1220 |
| PubMedID: 27229007 |
| 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 |