A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation

Annals of Neurology

Volumn 71, Issue 4, 2012, Pages 509-519

  Blumen, Sergiu C ^a,b   Astord, Stéphanie ^c   Robin, Valérie ^c   Vignaud, Ludivine ^d   Toumi, Nawel ^e   Cieslik, Aurore ^e   Achiron, Anat ^f,g   Carasso, Ralph L ^a,b   Gurevich, Michael ^f   Braverman, Itzhak ^a,b   Blumen, Nava ^f,g   Munich, Arnold ^e   Barkats, Martine ^c   Viollet, Louis ^e,h  

^a HILLEL YAFFE MEDICAL CENTER   (Israel)

^b TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^c Sorbonne Université   (France)

^d Université Paris Descartes Paris 5 ^*

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f SHEBA MEDICAL CENTER   (Israel)

^g TEL AVIV UNIVERSITY   (Israel)

^h UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHAPERONE; HSJ1A PROTEIN; HSJ1B PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; DISTAL HEREDITARY MOTOR NEUROPATHY; FAMILIAL DISEASE; FEMALE; FIBROBLAST; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; GENE OVEREXPRESSION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; MALE; MOROCCO; MOTOR NEUROPATHY; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGE OF ONSET; BASE SEQUENCE; CHROMOSOME MAPPING; ELECTROMYOGRAPHY; FEMALE; HSP40 HEAT-SHOCK PROTEINS; HUMANS; JEWS; MALE; MIDDLE AGED; MOLECULAR CHAPERONES; MOLECULAR SEQUENCE DATA; MOROCCO; MOTOR NEURON DISEASE; MUTATION; PEDIGREE; YOUNG ADULT;

EID: 84860135203     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.22684     Document Type: Article

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