When does ALS start? A novel SOD-1 p.Gly142Arg mutation causing motor neurone disease with prominent premorbid cramps and spasms.
Centre for Clinical Research, The University of Queensland Centre for Clinical Research, Brisbane, Queensland, Australia Department of Neurology, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.
Z A
ZA
Ioannides
Department of Neurology, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.
R D
RD
Henderson
Anatomical Pathology, Queensland Pathology, Brisbane, Queensland, Australia.
T
T
Robertson
Department of Diagnostic Genomics, PathWest Laboratory Medicine WA, QEII Medical Centre, Perth, Western Australia, Australia.
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M
Davis
Centre for Clinical Research, The University of Queensland Centre for Clinical Research, Brisbane, Queensland, Australia Department of Neurology, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia.
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PA
McCombe
D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D009120:Muscle Cramp / Q000503:physiopathology*; D009154:Mutation; D013035:Spasm / Q000503:physiopathology*; D000072105:Superoxide Dismutase-1 / Q000235:genetics*
C000606290:SOD1 protein, human; D000072105:Superoxide Dismutase-1
GENETICS; MOTOR NEURON DISEASE