Associated Papers
Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.
Cakar A et al.
European Journal of Neurology, 2025
Charcot-Marie-Tooth type 2CC misdiagnosed as Chronic Inflammatory Demyelinating Polyradiculoneuropathy.
Di Sarno I et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
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
First case report of Charcot-Marie-Tooth disease type 2CC with a frameshift mutation of NEFH gene in Greece.
Charalampopoulou A et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
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
A Chinese Patient with Spastic Paraplegia Type 4 with a De Novo Mutation in the SPAST Gene.
Xu L et al.
Case Reports in Genetics, 2021
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