A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance

American Journal of Human Genetics

Volumn 93, Issue 5, 2013, Pages 976-983

  Sumner, Charlotte J ^a   D'Ydewalle, Constantin ^a,b   Wooley, Joe ^a   Fawcett, Katherine A ^c   Hernandez, Dena ^d   Gardiner, Alice R ^c   Kalmar, Bernadett ^c   Baloh, Robert H ^e   Gonzalez, Michael ^f   Züchner, Stephan ^f   Stanescu, Horia C ^g   Kleta, Robert ^g   Mankodi, Ami ^h   Cornblath, David R ^a   Boylan, Kevin B ⁱ   Reilly, Mary M ^c   Greensmith, Linda ^c   Singleton, Andrew B ^d   Harms, Matthew B ^j   Rossor, Alexander M ^c   Houlden, Henry ^c   more..

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^d NATIONAL INSTITUTE ON AGING   (United States)

^e CEDARS SINAI MEDICAL CENTER   (United States)

^f UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^g UNIVERSITY COLLEGE LONDON   (United Kingdom)

^h NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

ⁱ MAYO CLINIC   (United States)

^j WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYSTEINE; F BOX PROTEIN; F BOX PROTEIN 38; KRUPPEL LIKE FACTOR; KRUPPEL LIKE FACTOR 7; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CELL STRAIN HEK293; CONTROLLED STUDY; EMBRYO; EXOME; FAMILIAL DISEASE; FIBROBLAST; GASTROCNEMIUS MUSCLE; GENE CONSTRUCT; HETEROZYGOTE; HUMAN; HUMAN CELL; LIMB WEAKNESS; LINKAGE ANALYSIS; MISSENSE MUTATION; MOTONEURON; MUTATIONAL ANALYSIS; NERVE FIBER; NERVE FIBER GROWTH; NERVE REGENERATION; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN LOCALIZATION; SPINAL MUSCULAR ATROPHY; TRANSACTIVATION; TRANSCRIPTION REGULATION;

EID: 84890167982     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.10.006     Document Type: Article

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