Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome.

Saskia Wortmann; Peter M van Hasselt; Ivo Barić; Alberto Burlina; Niklas Darin; Friederike Hörster; Mahmut Coker; Sema Kalkan Ucar; Zita Krumina; Karin Naess; Lock H Ngu; Ewa Pronicka; Gilian Riordan; Rene Santer; Evangeline Wassmer; Johannes Zschocke; Manuel Schiff; Linda de Meirleir; Mohammed A Alowain; Jan A M Smeitink; Eva Morava; Tamas Kozicz; Ron A Wevers; Nicole I Wolf; Michel A Willemsen

doi:10.1055/s-0034-1399755

Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome.

Saskia Wortmann^* (First author), Peter M van Hasselt, Ivo Barić, Alberto Burlina, Niklas Darin, Friederike Hörster, Mahmut Coker, Sema Kalkan Ucar, Zita Krumina, Karin Naess, Lock H Ngu, Ewa Pronicka, Gilian Riordan, Rene Santer, Evangeline Wassmer, Johannes Zschocke, Manuel Schiff, Linda de Meirleir, Mohammed A Alowain, Jan A M SmeitinkEva Morava, Tamas Kozicz, Ron A Wevers, Nicole I Wolf, Michel A Willemsen

^*Corresponding author for this work

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

31 Citations (Web of Science)

Original language	English
Pages (from-to)	98-103
Journal	NEUROPEDIATRICS
Volume	46
Issue number	2
DOIs	https://doi.org/10.1055/s-0034-1399755
Publication status	Published - 2015

Keywords

3-METHYLGLUTACONIC ACIDURIA
LEIGH-SYNDROME
3-HYDROXYISOBUTYRIC ACIDURIA
MUTATIONS
ENCEPHALOPATHY
ASSOCIATION
PATIENT
SERAC1

Access to Document

10.1055/s-0034-1399755

Cite this

Wortmann, S., van Hasselt, P. M., Barić, I., Burlina, A., Darin, N., Hörster, F., Coker, M., Ucar, S. K., Krumina, Z., Naess, K., Ngu, L. H., Pronicka, E., Riordan, G., Santer, R., Wassmer, E., Zschocke, J., Schiff, M., de Meirleir, L., Alowain, M. A., ... Willemsen, M. A. (2015). Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome. NEUROPEDIATRICS , 46(2), 98-103. https://doi.org/10.1055/s-0034-1399755

Wortmann, Saskia ; van Hasselt, Peter M ; Barić, Ivo et al. / Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome. In: NEUROPEDIATRICS 2015 ; Vol. 46, No. 2. pp. 98-103.

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title = "Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome.",

keywords = "3-METHYLGLUTACONIC ACIDURIA, LEIGH-SYNDROME, 3-HYDROXYISOBUTYRIC ACIDURIA, MUTATIONS, ENCEPHALOPATHY, ASSOCIATION, PATIENT, SERAC1",

author = "Saskia Wortmann and {van Hasselt}, {Peter M} and Ivo Bari{\'c} and Alberto Burlina and Niklas Darin and Friederike H{\"o}rster and Mahmut Coker and Ucar, {Sema Kalkan} and Zita Krumina and Karin Naess and Ngu, {Lock H} and Ewa Pronicka and Gilian Riordan and Rene Santer and Evangeline Wassmer and Johannes Zschocke and Manuel Schiff and {de Meirleir}, Linda and Alowain, {Mohammed A} and Smeitink, {Jan A M} and Eva Morava and Tamas Kozicz and Wevers, {Ron A} and Wolf, {Nicole I} and Willemsen, {Michel A}",

year = "2015",

doi = "10.1055/s-0034-1399755",

language = "English",

volume = "46",

pages = "98--103",

journal = "NEUROPEDIATRICS ",

issn = "0174-304X",

publisher = "Thieme Medical Publishers, US ",

number = "2",

}

Wortmann, S, van Hasselt, PM, Barić, I, Burlina, A, Darin, N, Hörster, 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, JAM, Morava, E, Kozicz, T, Wevers, RA, Wolf, NI & Willemsen, MA 2015, 'Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome.', NEUROPEDIATRICS , vol. 46, no. 2, pp. 98-103. https://doi.org/10.1055/s-0034-1399755

Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome. / Wortmann, Saskia (First author); van Hasselt, Peter M; Barić, Ivo et al.
In: NEUROPEDIATRICS , Vol. 46, No. 2, 2015, p. 98-103.

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

TY - JOUR

T1 - Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome.

AU - Wortmann, Saskia

AU - van Hasselt, Peter M

AU - Barić, Ivo

AU - Burlina, Alberto

AU - Darin, Niklas

AU - Hörster, Friederike

AU - Coker, Mahmut

AU - Ucar, Sema Kalkan

AU - Krumina, Zita

AU - Naess, Karin

AU - Ngu, Lock H

AU - Pronicka, Ewa

AU - Riordan, Gilian

AU - Santer, Rene

AU - Wassmer, Evangeline

AU - Zschocke, Johannes

AU - Schiff, Manuel

AU - de Meirleir, Linda

AU - Alowain, Mohammed A

AU - Smeitink, Jan A M

AU - Morava, Eva

AU - Kozicz, Tamas

AU - Wevers, Ron A

AU - Wolf, Nicole I

AU - Willemsen, Michel A

PY - 2015

Y1 - 2015

KW - 3-METHYLGLUTACONIC ACIDURIA

KW - LEIGH-SYNDROME

KW - 3-HYDROXYISOBUTYRIC ACIDURIA

KW - MUTATIONS

KW - ENCEPHALOPATHY

KW - ASSOCIATION

KW - PATIENT

KW - SERAC1

U2 - 10.1055/s-0034-1399755

DO - 10.1055/s-0034-1399755

M3 - Original Article

C2 - 25642805

SN - 0174-304X

VL - 46

SP - 98

EP - 103

JO - NEUROPEDIATRICS

JF - NEUROPEDIATRICS

IS - 2

ER -

Wortmann S, van Hasselt PM, Barić I, Burlina A, Darin N, Hörster F et al. Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome. NEUROPEDIATRICS . 2015;46(2):98-103. doi: 10.1055/s-0034-1399755