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 Wortmann

doi:10.1002/ana.25110

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 HasseltOmar Hikmat, Friederike Hörster, Pirjo Isohanni, Khushnooda Ramzan, Reka Kovacs-Nagy, Zita Krumina, Elena Martin-Hernandez, Johannes A. Mayr (Co-author), 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 (Co-author), 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 Wortmann^* (First author)

^*Corresponding author for this work

Department of Pediatrics

Research output: Contribution to journal › Original Article › peer-review

44 Citations (Web of Science)

Original language	English
Pages (from-to)	1004-1015
Journal	ANNALS OF NEUROLOGY
Volume	82
Issue number	6
DOIs	https://doi.org/10.1002/ana.25110
Publication status	Published - 2017

Keywords

MEGDEL SYNDROME
3-METHYLGLUTACONIC ACIDURIA
MITOCHONDRIAL DYSFUNCTION
GENE
ENCEPHALOPATHY
BIOSYNTHESIS
DEFICIENCY
PHENOTYPE
PHOSPHOLIPIDS
MANAGEMENT

Access to Document

10.1002/ana.25110

Cite this

Maas, R. R., Iwanicka-Pronicka, K., Kalkan Ucar, S., Alhaddad, B., AlSayed, M., Al-Owain, M. A., Al-Zaidan, H. I., Balasubramaniam, S., Barić, I., Bubshait, D. K., Burlina, A., Christodoulou, J., Chung, W. K., Colombo, R., Darin, N., Freisinger, P., Garcia Silva, M. T., Grunewald, S., Haack, T. B., ... Wortmann, S. (2017). Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. ANNALS OF NEUROLOGY , 82(6), 1004-1015. https://doi.org/10.1002/ana.25110

Maas, Roeltje R ; Iwanicka-Pronicka, Katarzyna ; Kalkan Ucar, Sema et al. / Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. In: ANNALS OF NEUROLOGY 2017 ; Vol. 82, No. 6. pp. 1004-1015.

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title = "Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.",

keywords = "MEGDEL SYNDROME, 3-METHYLGLUTACONIC ACIDURIA, MITOCHONDRIAL DYSFUNCTION, GENE, ENCEPHALOPATHY, BIOSYNTHESIS, DEFICIENCY, PHENOTYPE, PHOSPHOLIPIDS, MANAGEMENT",

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

note = " Salzburg State Hosp, Dept Pediat, Salzburg, Austria Paracelsus Med Univ, Mullner Hauptsrasse 38, A-5020 Salzburg, Austria",

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doi = "10.1002/ana.25110",

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Maas, RR, Iwanicka-Pronicka, K, Kalkan Ucar, S, Alhaddad, B, AlSayed, M, Al-Owain, MA, Al-Zaidan, HI, Balasubramaniam, S, Barić, I, Bubshait, DK, Burlina, A, Christodoulou, J, Chung, WK, Colombo, R, Darin, N, Freisinger, P, Garcia Silva, MT, Grunewald, S, Haack, TB, van Hasselt, PM, Hikmat, O, Hörster, F, Isohanni, P, Ramzan, K, Kovacs-Nagy, R, Krumina, Z, Martin-Hernandez, E, Mayr, JA, McClean, P, De Meirleir, L, Naess, K, Ngu, LH, Pajdowska, M, Rahman, S, Riordan, G, Riley, L, Roeben, B, Rutsch, F, Santer, R, Schiff, M, Seders, M, Sequeira, S, Sperl, W, Staufner, C, Synofzik, M, Taylor, RW, Trubicka, J, Tsiakas, K, Unal, O, Wassmer, E, Wedatilake, Y, Wolff, T, Prokisch, H, Morava, E, Pronicka, E, Wevers, RA, de Brouwer, AP & Wortmann, S 2017, 'Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.', ANNALS OF NEUROLOGY , vol. 82, no. 6, pp. 1004-1015. https://doi.org/10.1002/ana.25110

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. / Maas, Roeltje R; Iwanicka-Pronicka, Katarzyna; Kalkan Ucar, Sema et al.
In: ANNALS OF NEUROLOGY , Vol. 82, No. 6, 2017, p. 1004-1015.

Research output: Contribution to journal › Original Article › peer-review

TY - JOUR

T1 - Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.

AU - Maas, Roeltje R

AU - Iwanicka-Pronicka, Katarzyna

AU - Kalkan Ucar, Sema

AU - Alhaddad, Bader

AU - AlSayed, Moeenaldeen

AU - Al-Owain, Mohammed A

AU - Al-Zaidan, Hamad I

AU - Balasubramaniam, Shanti

AU - Barić, Ivo

AU - Bubshait, Dalal K

AU - Burlina, Alberto

AU - Christodoulou, John

AU - Chung, Wendy K

AU - Colombo, Roberto

AU - Darin, Niklas

AU - Freisinger, Peter

AU - Garcia Silva, Maria Teresa

AU - Grunewald, Stephanie

AU - Haack, Tobias B

AU - van Hasselt, Peter M

AU - Hikmat, Omar

AU - Hörster, Friederike

AU - Isohanni, Pirjo

AU - Ramzan, Khushnooda

AU - Kovacs-Nagy, Reka

AU - Krumina, Zita

AU - Martin-Hernandez, Elena

AU - Mayr, Johannes A.

AU - McClean, Patricia

AU - De Meirleir, Linda

AU - Naess, Karin

AU - Ngu, Lock H

AU - Pajdowska, Magdalena

AU - Rahman, Shamima

AU - Riordan, Gillian

AU - Riley, Lisa

AU - Roeben, Benjamin

AU - Rutsch, Frank

AU - Santer, Rene

AU - Schiff, Manuel

AU - Seders, Martine

AU - Sequeira, Silvia

AU - Sperl, Wolfgang

AU - Staufner, Christian

AU - Synofzik, Matthis

AU - Taylor, Robert W

AU - Trubicka, Joanna

AU - Tsiakas, Konstantinos

AU - Unal, Ozlem

AU - Wassmer, Evangeline

AU - Wedatilake, Yehani

AU - Wolff, Toni

AU - Prokisch, Holger

AU - Morava, Eva

AU - Pronicka, Ewa

AU - Wevers, Ron A

AU - de Brouwer, Arjan P

AU - Wortmann, Saskia

N1 - Salzburg State Hosp, Dept Pediat, Salzburg, Austria Paracelsus Med Univ, Mullner Hauptsrasse 38, A-5020 Salzburg, Austria

PY - 2017

Y1 - 2017

KW - MEGDEL SYNDROME

KW - 3-METHYLGLUTACONIC ACIDURIA

KW - MITOCHONDRIAL DYSFUNCTION

KW - GENE

KW - ENCEPHALOPATHY

KW - BIOSYNTHESIS

KW - DEFICIENCY

KW - PHENOTYPE

KW - PHOSPHOLIPIDS

KW - MANAGEMENT

U2 - 10.1002/ana.25110

DO - 10.1002/ana.25110

M3 - Original Article

C2 - 29205472

SN - 0364-5134

VL - 82

SP - 1004

EP - 1015

JO - ANNALS OF NEUROLOGY

JF - ANNALS OF NEUROLOGY

IS - 6

ER -

Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA et al. Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. ANNALS OF NEUROLOGY . 2017;82(6):1004-1015. doi: 10.1002/ana.25110