Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases

Roeltje R. Maas; Katarzyna Iwanicka-Pronicka; Sema Kalkan Ucar; Bader Alhaddad; Moeenaldeen AlSayed; Mohammed A. Al-Owain; Hamad I. Al-Zaidan; Shanti Balasubramaniam; Ivo Barić; Dalal K. Bubshait; Alberto Burlina; John Christodoulou; Wendy K. Chung; Roberto Colombo; Niklas Darin; Peter Freisinger; Maria Teresa Garcia Silva; Stephanie Grunewald; Tobias B. Haack; Peter M. van Hasselt; Omar Hikmat; Friederike Hörster; Pirjo Isohanni; Khushnooda Ramzan; Reka Kovacs-Nagy; Zita Krumina; Elena Martin-Hernandez; Johannes A. Mayr; Patricia McClean; Linda De Meirleir; Karin Naess; Lock H. Ngu; Magdalena Pajdowska; Shamima Rahman; Gillian Riordan; Lisa Riley; Benjamin Roeben; Frank Rutsch; Rene Santer; Manuel Schiff; Martine Seders; Silvia Sequeira; Wolfgang Sperl; Christian Staufner; Matthis Synofzik; Robert W. Taylor; Joanna Trubicka; Konstantinos Tsiakas; Ozlem Unal; Evangeline Wassmer; Yehani Wedatilake; Toni Wolff; Holger Prokisch; Eva Morava; Ewa Pronicka; Ron A. Wevers; Arjan P. de Brouwer; Saskia B. Wortmann; Sahlgrenska akademin

doi:10.1002/ana.25110

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Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases

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Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases

Roeltje R. Maas, Katarzyna Iwanicka-Pronicka, Sema Kalkan Ucar, Bader Alhaddad, Moeenaldeen AlSayed, Mohammed A. Al-Owain, Hamad I. Al-Zaidan, Shanti Balasubramaniam, Ivo Barić, Dalal K. Bubshait, …

Annals of neurology, Vol.82(6), pp.1004-1015

12/2017

DOI: https://doi.org/10.1002/ana.25110

PMCID: PMC5847115

PMID: 29205472

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Title: Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases
Creators - without role: Roeltje R. Maas - Radboud University Nijmegen
Katarzyna Iwanicka-Pronicka - Children's Memorial Health Institute
Sema Kalkan Ucar - Ege University
Bader Alhaddad - Institute of Human GeneticsTechnische UniversitätMünchenMunich Germany
Moeenaldeen AlSayed - Alfaisal University
Mohammed A. Al-Owain - King Faisal Specialist Hospital & Research Centre
Hamad I. Al-Zaidan - King Faisal Specialist Hospital & Research Centre
Shanti Balasubramaniam - Children's Hospital at Westmead
Ivo Barić - University of Zagreb
Dalal K. Bubshait - Imam Abdulrahman Bin Faisal University
Alberto Burlina - University of Padua
John Christodoulou - Murdoch Children's Research Institute
Wendy K. Chung - Columbia University
Roberto Colombo - Università Cattolica del Sacro Cuore
Niklas Darin - University of Gothenburg
Peter Freisinger - Kreiskliniken Reutlingen
Maria Teresa Garcia Silva - “12 de Octubre” University Hospital, Avenida de Cordoba sn, 28041 Madrid, Spain. Rare Diseases Biomedical Research Centre (CIBERER) Complutense University
Stephanie Grunewald - Great Ormond Street Hospital for Children NHS Foundation Trust
Tobias B. Haack - Medical Genetics Center
Peter M. van Hasselt - Wilhelmina Children's Hospital
Omar Hikmat - Haukeland University Hospital
Friederike Hörster - University Hospital Heidelberg
Pirjo Isohanni - Helsinki University Hospital
Khushnooda Ramzan - King Faisal Specialist Hospital & Research Centre
Reka Kovacs-Nagy - Institute of Human GeneticsTechnische UniversitätMünchenMunich Germany
Zita Krumina - Riga Stradiņš University
Elena Martin-Hernandez - Centre for Biomedical Network Research on Rare Diseases
Johannes A. Mayr - Paracelsus Medical University
Patricia McClean - Leeds Teaching Hospitals NHS Trust
Linda De Meirleir - Antwerp University Hospital
Karin Naess - Karolinska University Hospital
Lock H. Ngu - Hospital Kuala Lumpur
Magdalena Pajdowska - Children's Memorial Health Institute
Shamima Rahman - Great Ormond Street Hospital
Gillian Riordan - Red Cross War Memorial Children's Hospital
Lisa Riley - Children's Hospital at Westmead
Benjamin Roeben - Hertie Institute for Clinical Brain Research
Frank Rutsch - Department of General PediatricsMünster University Children's HospitalMünster Germany
Rene Santer - University Medical Center Hamburg-Eppendorf
Manuel Schiff - Délégation Paris 7
Martine Seders - Radboud University Nijmegen
Silvia Sequeira - Hospital de Dona Estefânia
Wolfgang Sperl - Paracelsus Medical University
Christian Staufner - University Hospital Heidelberg
Matthis Synofzik - Hertie Institute for Clinical Brain Research
Robert W. Taylor - Wellcome Centre for Mitochondrial Research
Joanna Trubicka - Children's Memorial Health Institute
Konstantinos Tsiakas - University Medical Center Hamburg-Eppendorf
Ozlem Unal - Hacettepe University Hospital
Evangeline Wassmer - Birmingham Children's Hospital
Yehani Wedatilake - Great Ormond Street Hospital
Toni Wolff - Nottingham University Hospitals NHS Trust
Holger Prokisch - Helmholtz Zentrum München
Eva Morava - Tulane Medical Center
Ewa Pronicka - Children's Memorial Health Institute
Ron A. Wevers - Radboud University Nijmegen
Arjan P. de Brouwer - Radboud University Nijmegen
Saskia B. Wortmann - Helmholtz Zentrum München
Sahlgrenska akademin
Publication Details: Annals of neurology, Vol.82(6), pp.1004-1015
Publisher: John Wiley and Sons Inc
Grant note: 01GM1603; 01GM1207; FWF I 2741‐B26 / E‐Rare project GENOMIT Horizon2020 Vereinigung zur Förderung Pädiatrischer Forschung und Fortbildung Salzburg G0800674 / Centre for Translational Research in Neuromuscular Disease, Mitochondrial Disease Patient Cohort (UK) Medical Research Council (MRC) Else Kröner‐Fresenius Stiftung” German Bundesministerium für Bildung und Forschung (BMBF) UK NHS Highly Specialised Service for Rare Mitochondrial Disorders of Adults and Children 203105/Z/16/Z / Wellcome Centre for Mitochondrial Research Lily Foundation
Identifiers: 9913771808331
Academic Unit: King Faisal University; Alfaisal University; Imam Abdulrahman Bin Faisal University
Language: English
Resource Type: Journal article