| 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 |
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