CrossRef

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

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

Michael Nafisinia; Nara Sobreira; Lisa Riley; Wendy Gold; Birgit Uhlenberg; Claudia Weiß; Corinne Boehm; Kristina Prelog; Robert Ouvrier; John Christodoulou

Hypomyelinating leukodystrophy: From molecular mechanisms to clinical advances

Brain and Development 47(5) (2025)

Hitoshi Osaka; Ken Inoue

Overview of Neuro-Ophthalmic Findings in Leukodystrophies

Journal of Clinical Medicine 13(17) (2024)

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

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