Associated Papers
An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families.
Ando M et al.
Journal of Human Genetics, 2022
Proximal weakness involvement in the first Italian case of Charcot-Marie-Tooth 2CC harboring a novel frameshift variant in NEFH.
Aruta F et al.
Journal of the Peripheral Nervous System : Jpns, 2021
Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family.
Ikenberg E et al.
Neuromuscular Disorders : Nmd, 2019
Whole-Genome Linkage Analysis with Whole-Exome Sequencing Identifies a Novel Frameshift Variant in NEFH in a Chinese Family with Charcot-Marie-Tooth 2: A Novel Variant in NEFH for Charcot-Marie-Tooth 2.
Bian X et al.
Neuro-degenerative Diseases, 2018
Axonal Charcot-Marie-Tooth neuropathy concurrent with distal and proximal weakness by translational elongation of the 3' UTR in NEFH.
Nam DE et al.
Journal of the Peripheral Nervous System : Jpns, 2017
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