Wide phenotypic spectrum in axonal Charcot–Marie–Tooth neuropathy type 2 patients with KIF5A mutations

CLASSIFICATION OF THE HEREDITARY ATAXIAS AND PARAPLEGIAS

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Neurological Disorder, Genetic Disorder, Degenerative Disease +4

A Kinesin Heavy Chain (KIF5A) Mutation in Hereditary Spastic Paraplegia (SPG10)

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Biology, Mendelian Disorder, Genetic Disorder +8

HOMOSEXUALITY AS A CRIME.

Pask Ea, Lunn Jn · PubMed · 1965 · 338 citations

Sexual Cultures, Queer Politics, A Crime +10

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

Vera Fridman, Brian N. Bundy, Mary M. Reilly et al. · Journal of Neurology Neurosurgery & Psychiatry · 2014 · 336 citations · Full text

Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot–Marie–Tooth type 2

Claudia Crimella, Cinzia Baschirotto, Alessia Arnoldi et al. · Clinical Genetics · 2011 · 156 citations

Genetics, Molecular Genetics, Disease Gene Identification +17