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

Maas, Roeltje; Iwanicka-Pronicka, Katarzyna; Ucar, Sema; Alhaddad, Bader; AlSayed, Moeenaldeen; Al-Owain, Mohammed; Al-Zaidan, Hamad; Balasubramaniam, Shanti; Baric, Ivo; Bubshait, Dalal; Burlina, Alberto; Christodoulou, John; Chung, Wendy; Colombo, Roberto; Darin, Niklas; Freisinger, Peter; Garcia Silva, Maria; Grunewald, Stephanie; Haack, Tobias; van Hasselt, Peter; Hikmat, Omar; Hoerster, Friederike; Isohanni, Pirjo; Ramzan, Khushnooda; Kovacs-Nagy, Reka; Krumina, Zita; Martin-Hernandez, Elena; Mayr, Johannes; McClean, Patricia; De Meirleir, Linda; Naess, Karin; Ngu, Lock; 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; Trubicka, Joanna; Tsiakas, Konstantinos; Unal, Ozlem; Wassmer, Evangeline; Wedatilake, Yehani; Wolff, Toni; Prokisch, Holger; Morava, Eva; Pronicka, Ewa; Wevers, Ron; de Brouwer, Arjan; Wortmann, Saskia

doi:10.1002/ana.25110

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

Maas R. R., Iwanicka-Pronicka K., Ucar S. K., Alhaddad B., AlSayed M., Al-Owain M. A., ...Daha Fazla

ANNALS OF NEUROLOGY, cilt.82, sa.6, ss.1004-1015, 2017 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 82 Sayı: 6
Basım Tarihi: 2017
Doi Numarası: 10.1002/ana.25110
Dergi Adı: ANNALS OF NEUROLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.1004-1015
Hacettepe Üniversitesi Adresli: Evet

Özet

Objective3-Methylglutaconic aciduria, dystonia-deafness, hepatopathy, encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1.