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Publication
Property Value
Working Groups RG Gärtner
Subproject B02
Open Access Open Access  Yes
Publication Type Journal Article
Peer Reviewed Yes
PMID PubMed ID  40590574
DOI 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

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