Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy

Neurology

Volumn 83, Issue 7, 2014, Pages 612-619

  Liu, Yo Tsen ^a,c,d   Laurá, Matilde ^a,b   Hersheson, Joshua ^a,b   Horga, Alejandro ^a,b   Jaunmuktane, Zane ^b   Brandner, Sebastian ^b   Pittman, Alan ^a   Hughes, Deborah ^a   Polke, James M ^b   Sweeney, Mary G ^b   Proukakis, Christos ^a   Janssen, John C ^e   Auer Grumbach, Michaela ^f   Zuchner, Stephan ^g   Shields, Kevin G ^b   Reilly, Mary M ^a,b   Houlden, Henry ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

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

^c TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^d NATIONAL YANG MING UNIVERSITY   (Taiwan)

^e CHELSEA AND WESTMINSTER HOSPITAL   (United Kingdom)

^f MEDICAL UNIVERSITY OF VIENNA   (Austria)

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

Author keywords

[No Author keywords available]

Indexed keywords

KINESIN 5; KINESIN 5A; UNCLASSIFIED DRUG; KIF5A PROTEIN, HUMAN; KINESIN;

ADULT; ARTICLE; CLINICAL FEATURE; EXOME; EXON; FEMALE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NEUROPHYSIOLOGY; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PYRAMIDAL SIGN; SPASTIC PARAPLEGIA; CHILD; DNA SEQUENCE; FAMILY; GENETICS; MIDDLE AGED; MUTATION; NERVE DEGENERATION; PEDIGREE; PHENOTYPE;

ADULT; CHARCOT-MARIE-TOOTH DISEASE; CHILD; EXONS; FAMILY; FEMALE; HUMANS; KINESIN; MALE; MIDDLE AGED; MUTATION; NERVE DEGENERATION; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 84907602711     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000000691     Document Type: Article

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