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Human Mutation|January 30, 2009
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosisChiara Aiello, Alessandra Terracciano, Alessandro Simonati, et al.
Brain : a Journal of Neurology|May 8, 2021
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafnessAntonella Sferra, Paola Fortugno, Marialetizia Motta, et al.
Neurology. Genetics|May 12, 2021
LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected PresentationsMenno D Stellingwerff, Sonia Figuccia, Emanuele Bellacchio, et al.
European Journal of Human Genetics : EJHG|March 3, 2016
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome)Alessia Micalizzi, Andrea Poretti, Marta Romani, et al.
Annals of Clinical and Translational Neurology|December 10, 2019
RARS1-related hypomyelinating leukodystrophy: Expanding the spectrumMarisa I Mendes, Lydia M C Green, Enrico Bertini, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 27, 2021
Expanded phenotype of AARS1-related white matter diseaseGuy Helman, Marisa I Mendes, Francesco Nicita, et al.
American Journal of Human Genetics|September 9, 2025
A clinical and genotype-phenotype analysis of MACF1 variantsJordy Dekker, Rachel Schot, Kimberly A Aldinger, et al.
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