ALS with variable phenotypes in a six-generation family caused by leu144phe mutation in the SOD1 gene

Journal of the Neurological Sciences

Volumn 191, Issue 1-2, 2001, Pages 11-18

  Mase G ^a   Ros, S ^a   Gemma, A ^a   Bonfigli, L ^a   Carraro, N ^a   Cazzato, G ^a   Rolfo, M ^b   Zanconati, F ^c   Sepcic, J ^d   Jurjevic, A ^d   Pirulli, D ^c   Boniotto, M ^c   Zezlina, S ^c   Crovella, S ^c   Amoroso, A ^c  

^a UNIVERSITY OF TRIESTE   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c UNIVERSITY OF TRIESTE   (Italy)

^d UNIVERSITY OF RIJEKA   (Croatia)

Author keywords

ALS; Istro Rumanian; SOD1 gene

Indexed keywords

PERTECHNETIC ACID TC 99M; SUPEROXIDE DISMUTASE; THIAMAZOLE;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; DEMENTIA; DISEASE ASSOCIATION; DISEASE DURATION; ECHOTOMOGRAPHY; ENZYME ACTIVITY; ERYTHROCYTE; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GRAVES DISEASE; HUMAN; HYPERTHYROIDISM; MALE; MONONUCLEAR CELL; NEUROPATHOLOGY; ONSET AGE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; THYROID HYPERPLASIA;

AGE OF ONSET; AGED; AMINO ACID SUBSTITUTION; AMYOTROPHIC LATERAL SCLEROSIS; COMORBIDITY; CROATIA; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; ENZYME ACTIVATION; FAMILY; FEMALE; GENES, DOMINANT; GENETIC SCREENING; HUMANS; HYPERTHYROIDISM; ITALY; MALE; MIDDLE AGED; MUTATION; NEUROPSYCHOLOGICAL TESTS; PEDIGREE; PHENOTYPE; ROMANIA; SUPEROXIDE DISMUTASE;

EID: 0035886496     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(01)00625-6     Document Type: Article

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