Clinical variability and female penetrance in X-linked familial FTD/ALS caused by a P506S mutation in UBQLN2

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Volumn 14, Issue 7-8, 2013, Pages 615-619

  Vengoechea, Jaime ^a   David, Marjorie P ^b   Yaghi, Shadi R ^b   Carpenter, Lori ^a   Rudnicki, Stacy A ^b  

^a 4301 W Markham St ^*  (United States)

^b UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

Author keywords

Amyotrophic lateral sclerosis; Frontotemporal dementia; Incomplete penetrance; X linked inheritance

Indexed keywords

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; BULBAR PARALYSIS; CASE REPORT; COGNITIVE DEFECT; DYSARTHRIA; DYSPHAGIA; DYSPNEA; ELECTROMYOGRAM; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE; GENE MUTATION; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INHERITANCE; PEDIGREE ANALYSIS; PRIMARY LATERAL SCLEROSIS; PRIORITY JOURNAL; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS; SOD1 GENE; UBQLN2 GENE; WEAKNESS;

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; CELL CYCLE PROTEINS; FEMALE; FRONTOTEMPORAL DEMENTIA; GENETIC VARIATION; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PENETRANCE; UBIQUITINS; YOUNG ADULT;

EID: 84887493991     PISSN: 21678421     EISSN: 21679223     Source Type: Journal    
DOI: 10.3109/21678421.2013.824001     Document Type: Article

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