Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism

Human Mutation

Volumn 37, Issue 11, 2016, Pages 1180-1189

  Sanchez, Elena ^a   Darvish, Hossein ^b   Mesias, Roxana ^a   Taghavi, Shaghyegh ^b   Firouzabadi, Saghar Ghasemi ^c   Walker, Ruth H ^a,d   Tafakhori, Abbas ^e   Paisán Ruiz, Coro ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c UNIVERSITY OF SOCIAL WELFARE AND REHABILITATION SCIENCES   (Iran)

^d VETERANS AFFAIRS MEDICAL CENTER   (United States)

^e TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

DnaJ domain deletion; DNAJB2; Parkinsonism; spinal muscular atrophy; WGS

Indexed keywords

BRAIN DERIVED NEUROTROPHIC FACTOR; MESSENGER RNA; PROTEIN DNAJ;

ADULT; ARTICLE; AUTOPHAGY; BABINSKI REFLEX; CELL DEATH; DNAJB2 GENE; ELECTROMYOGRAPHY; ENZYME LINKED IMMUNOSORBENT ASSAY; FEMALE; GENE; GENE IDENTIFICATION; GENE MAPPING; GENE SEQUENCE; GENETIC IDENTIFICATION; GENETIC TRANSFECTION; HOMOZYGOSITY; HUMAN; IMMUNOCYTOCHEMISTRY; MALE; MOTOR UNIT POTENTIAL; PARKINSONISM; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN DEGRADATION; PROTEIN EXPRESSION; QUANTITATIVE ANALYSIS; SITE DIRECTED MUTAGENESIS; SPINAL MUSCULAR ATROPHY; WESTERN BLOTTING;

EID: 84991198879     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.23055     Document Type: Article

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