Associated Papers
An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families.
Ando M et al.
Journal of Human Genetics, 2022
Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype.
Pipis M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 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
A novel missense pathogenic variant in NEFH causing rare Charcot-Marie-Tooth neuropathy type 2CC.
Yan J et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy.
Rebelo AP et al.
American Journal of Human Genetics, 2016
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