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

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

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Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12530/29493

Title:	Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Authors:	Maas, Roeltje R Iwanicka-Pronicka, Katarzyna Kalkan Ucar, Sema Alhaddad, Bader AlSayed, Moeenaldeen Al-Owain, Mohammed A Al-Zaidan, Hamad I Balasubramaniam, Shanti Barić, Ivo Bubshait, Dalal K Burlina, Alberto Christodoulou, John Chung, Wendy K Colombo, Roberto Darin, Niklas Freisinger, Peter Garcia Silva, Maria Teresa Grunewald, Stephanie Haack, Tobias B van Hasselt, Peter M Hikmat, Omar Hörster, Friederike Isohanni, Pirjo Ramzan, Khushnooda Kovacs-Nagy, Reka Krumina, Zita Martin-Hernandez, Elena Mayr, Johannes A McClean, Patricia De Meirleir, Linda Naess, Karin Ngu, Lock H Pajdowska, Magdalena Rahman, Shamima Riordan, Gillian Riley, Lisa Roeben, Benjamin Rutsch, Frank Santer, Rene Schiff, Manuel Seders, Martine Sequeira, Silvia Sperl, Wolfgang Staufner, Christian Synofzik, Matthis Taylor, Robert W Trubicka, Joanna Tsiakas, Konstantinos Unal, Ozlem Wassmer, Evangeline Wedatilake, Yehani Wolff, Toni Prokisch, Holger Morava, Eva Pronicka, Ewa Wevers, Ron A de Brouwer, Arjan P Wortmann, Saskia B View more
Mesh:	Adolescent Adult Amino Acid Sequence Carboxylic Ester Hydrolases Child Child, Preschool Cohort Studies Deaf-Blind Disorders Dystonia Female Humans Infant Infant, Newborn Intellectual Disability Male Mutation Optic Atrophy Young Adult Disease Progression View more
Issue Date:	Dec-2017
Citation:	Ann. Neurol..2017 Dec;(82)6:1004-1015
Abstract:	3-Methylglutaconic aciduria, dystonia-deafness, hepatopathy, encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1.
PMID:	29205472
URI:	https://hdl.handle.net/20.500.12530/29493
Rights:	openAccess
Appears in Collections:	Fundaciones e Institutos de Investigación > IIS H. U. 12 de Octubre > Artículos

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