Familial ALS with extreme phenotypic variability due to the I113T SOD1 mutation

Amyotrophic Lateral Sclerosis

Volumn 11, Issue 1-2, 2010, Pages 232-236

  Lopate, Glenn ^a   Baloh, Robert H ^a   Al Lozi, Muhammad T ^a   Miller, Timothy M ^b   Fernandes Filho, J Americo ^c   Ni, Oliver ^d   Leston, Alison ^d   Florence, Julaine ^a   Schierbecker, Jeanine ^a   Allred, Peggy ^e  

^a WASHINGTON UNIVERSITY   (United States)

^b UNIVERSITY OF ARIZONA COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF NEBRASKA AT OMAHA   (United States)

^d Medical Center   (United States)

^e Neurology   (United States)

Author keywords

Chorea; Frontotemporal dementia; Phenotypic variation; Reduced penetrance; Superoxide dismutase 1

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CHOREA; CLINICAL ARTICLE; CLINICAL FEATURE; DECISION MAKING; DISEASE COURSE; FAMILIAL DISEASE; FEMALE; FRONTOTEMPORAL DEMENTIA; GAIT DISORDER; GENE MUTATION; HUMAN; MALE; MOTOR NEURON DISEASE; NEUROLOGIC EXAMINATION; ONSET AGE; PARESTHESIA; PENETRANCE; PHENOTYPE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; WALKING;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; AMYOTROPHIC LATERAL SCLEROSIS; DISEASE PROGRESSION; FAMILY HEALTH; FEMALE; HUMANS; MIDDLE AGED; PEDIGREE; PHENOTYPE; POINT MUTATION; SUPEROXIDE DISMUTASE; YOUNG ADULT;

EID: 77649292324     PISSN: 17482968     EISSN: 1471180X     Source Type: Journal    
DOI: 10.3109/17482960902898069     Document Type: Article

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