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Publication

Property	Value
Working Groups	RG Gärtner
Subproject	B02
Open Access	Yes
Publication Type	Journal Article
Peer Reviewed	Yes
PMID	40590574
DOI	10.1002/mds.30258
Publication Year	2025
Title	Biallelic <scp><i>ELOVL1</i></scp> Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and Ichthyosis
Journal	Movement Disorders
ISSN	0885-3185
URL	https://doi.org/10.1002/mds.30258
Journal Abbreviation	Movement Disorders
Authors	Wong KM, Maroofian R, Meier K, Diegmann S, Tkemaladze T, Alvi JR, Tasharrofi B, Efthymiou S, Munchau A, Korenke GC, Almontashiri N, Eyaid W, Kashgari A, Alotaibi M, Gärtner J, Huppke B, Asadollahi M, Chikvinidze G, Keramatipour M, Sultan T, Thiele H, Nürnberg P, Gräler MH, Houlden H, Huppke P
First Author	Wong KM
Last Author	Huppke P