TRPV4 mutations in children with congenital distal spinal muscular atrophy

Neurogenetics

Volumn 13, Issue 3, 2012, Pages 195-203

  Fiorillo, Chiara ^a   Moro, Francesca ^a   Brisca, Giacomo ^b   Astrea, Guja ^a   Nesti, Claudia ^a   Bálint, Zoltán ^c,d   Olschewski, Andrea ^c,d   Meschini, Maria Chiara ^a   Guelly, Christian ^c   Auer Grumbach, Michaela ^c   Battini, Roberta ^a   Pedemonte, Marina ^b   Romano, Alessandro ^e   Menchise, Valeria ^f   Biancheri, Roberta ^b   Santorelli, Filippo M ^a   Bruno, Claudio ^b  

^a DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^b G GASLINI INSTITUTE   (Italy)

^c MEDICAL UNIVERSITY OF GRAZ   (Austria)

^d LUDWIG BOLTZMANN INSTITUTE FOR LUNG VASCULAR RESEARCH   (Austria)

^e UNIVERSITY OF SALENTO   (Italy)

^f UNIVERSITY OF TURIN   (Italy)

Author keywords

Distal SMA; Genotype phenotype correlations; Mutation; TRPV4; Vocal cord

Indexed keywords

VANILLOID RECEPTOR 4;

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; FEMALE; GENE FUNCTION; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; NEWBORN; PEDIATRICS; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHOOL CHILD; SKIN FIBROBLAST; SPINAL MUSCULAR ATROPHY; VOCAL CORD PARALYSIS;

ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; FIBROBLASTS; GENETIC VARIATION; GENOTYPE; HUMANS; INTRONS; MALE; MUSCULAR ATROPHY, SPINAL; MUTATION; PEDIGREE; PHENOTYPE; TRPV CATION CHANNELS; VOCAL CORD PARALYSIS;

EID: 84865000128     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-012-0328-7     Document Type: Article

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