Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

Albert R. La Spada, Elizabeth Wilson, Dennis B. Lubahn et al. · Nature · 1991 · 2.8K citations

Developmental Biology, Somatic Variant, Mendelian Disorder +6

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

Pascale Bomont, L Cavalier, F Blondeau et al. · Nature Genetics · 2000 · 410 citations

Neuroregeneration, Molecular Neuroscience, Giant Axonal Neuropathy +11

X-LINKED RECESSIVE BULBOSPINAL NEURONOPATHY

Gen Sobue, Yoshio Hashizume, Eiichiro Mukai et al. · Brain · 1989 · 398 citations

Regulation of SMN Protein Stability

Barrington G. Burnett, Eric R. Muñoz, Animesh Tandon et al. · Molecular and Cellular Biology · 2008 · 273 citations · Full text

X-linked recessive bulbospinal neuronopathy: a report of ten cases.

A E Harding, P. K. Thomas, M Baraitser et al. · Journal of Neurology Neurosurgery & Psychiatry · 1982 · 245 citations · Full text