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6 resultsUpdated October 31, 2026
1

Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus–Merzbacher disease

European Journal of Human Genetics 25(10) (2017)

Michael Nafisinia; Nara Lygia de Macena Sobreira; Lisa G. Riley; Wendy Anne Gold; Birgit Uhlenberg; Claudia Weiß; Corinne D. Boehm; Kristina Prelog; Robert Ouvrier; John Christodoulou

3

Overview of Neuro-Ophthalmic Findings in Leukodystrophies

Journal of Clinical Medicine 13(17) (2024)

C Bettinger; Simon Dulz; Yevgeniya Atiskova; Helena Guerreiro; Gerhard Schön; Philipp Guder; Sarah Lena Maier; Jonas Denecke; Annette E. Bley

4

Inherited white matter disorders: Hypomyelination (myelin disorders)

Handbook of clinical neurology 204 (2024)

Stefanie Perrier; Laurence Gauquelin; Geneviève Bernard

5

Hypomyelinating leukodystrophy: From molecular mechanisms to clinical advances

Brain and Development 47(5) (2025)

Hitoshi Osaka; Ken Inoue

6

Genotype-phenotype Correlation in Pelizaeus Merzbacher Disease and Pelizaeus Merzbacher-like Disease

Bezmialem Science 7(3) (2019)

Elif Gökçal; Birdal Bilir; Esra Battaloğlu; Resa Aydın; Zühal Yapıcı