T137A variant is a pathogenetic SOD1 mutation associated with a slowly progressive ALS phenotype

Amyotrophic Lateral Sclerosis

Volumn 13, Issue 4, 2012, Pages 398-399

  Origone, Paola ^a,b   Caponnetto, Claudia ^c   Verdiani, Simonetta ^c   Mantero, Vittorio ^d   Cichero, Elena ^c   Fossa, Paola ^c   Bellone, Emilia ^b,c   Mancardi, Gianluigi ^c   Mandich, Paola ^b,c  

^a UNIVERSITY OF GENOA   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c UNIVERSITY OF GENOA   (Italy)

^d OSPEDALE NIGUARDA CA GRANDA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE;

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; CASE REPORT; CONTROLLED STUDY; DISABILITY; DISEASE COURSE; ELECTROMYOGRAPHY; FASCICULATION; FEMALE; HAND PARESTHESIA; HUMAN; LETTER; LIMB WEAKNESS; MALE; MISSENSE MUTATION; MOTOR NERVE CONDUCTION; MUSCLE ACTION POTENTIAL; MUSCLE ATROPHY; MUSCLE DENERVATION; NERVE CONDUCTION; PATHOGENESIS; PRIORITY JOURNAL;

AMYOTROPHIC LATERAL SCLEROSIS; FEMALE; HUMANS; MALE; MUTATION, MISSENSE; SUPEROXIDE DISMUTASE;

EID: 84861602585     PISSN: 17482968     EISSN: 1471180X     Source Type: Journal    
DOI: 10.3109/17482968.2012.684216     Document Type: Letter

References (3)

1. Visani M, De Biase D, Bartolomei I, Plasmati R, Morandi L, Cenacchi G, et al. A novel T137A SOD1 mutation in an Italian family with two subjects affected by amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 2011;12: 385-8.
2. Tsai CP, Soong BW, Lin KP, Tu PH, Lin JL, Lee YC. FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS. Neurobiol Aging. 2011;32:553.13-21.
3. MOE: Chemical Computing Group Inc. Montreal. H3A 2R7 Canada. http://www.chemcomp.com