Results 131 to 133 of about 654 (133)

[A case of neuronal ceroid lipofuscinosis with MFSD8 gene mutations].

Zhonghua er ke za zhi = Chinese journal of pediatrics
C L, Song, W J, Tong, A E, Yang
openaire   +1 more source

UNRAVELING CLN7 disease: the distinct roles of two close MFSD8/CLN7 splice variants in phenotypic expression

Human Molecular Genetics
Juan Nicola, Norberto Guelbert, Nicola Juan Pablo   +2 more
exaly  

MFSD8 ‐Related CLN7 Disease with Adult‐Onset Cerebellar Ataxia: A Five‐Patient Case Series

Movement Disorders Clinical Practice
Mohammed Faruq, Achal Kumar Srivastava, Divyani Garg   +2 more
exaly