KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction

Journal of Medical Genetics

Volumn 51, Issue 2, 2014, Pages 137-142

  Dor, Talya ^a   Cinnamon, Yuval ^a   Raymond, Laure ^b   Shaag, Avraham ^a   Bouslam, Naima ^b,c   Bouhouche, Ahmed ^c   Gaussen, Marion ^b   Meyer, Vincent ^d   Durr, Alexandra ^b,e   Brice, Alexis ^b,e   Benomar, Ali ^c   Stevanin, Giovanni ^b,e   Schuelke, Markus ^f   Edvardson, Simon ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b INSTITUT DU CERVEAU ET DE LA MOELLE ÉPINIÈRE   (France)

^c MOHAMMED V UNIVERSITY   (Morocco)

^d CENTRE NATIONAL DE SÉQUENÇAGE   (France)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^f CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CLINICAL GENETICS; GENETICS; MOVEMENT DISORDERS (OTHER THAN PARKINSONS); NEUROLOGY;

ADOLESCENT; AMINO ACID SEQUENCE; BASE SEQUENCE; CEREBELLAR DISEASES; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC LINKAGE; HEK293 CELLS; HUMANS; INFANT; KINESIN; MALE; MOLECULAR SEQUENCE DATA; PARAPARESIS, SPASTIC; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; YOUNG ADULT;

EID: 84894078169     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2013-102012     Document Type: Article

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