Motor protein mutations cause a new form of hereditary spastic paraplegia

Neurology

Volumn 82, Issue 22, 2014, Pages 2007-2016

  Oteyza, Andrés Caballero ^a   Battaloǧlu, Esra ^b   Ocek, Levent ^c   Lindig, Tobias ^d   Reichbauer, Jennifer ^a,e   Rebelo, Adriana P ^f   Gonzalez, Michael A ^f   Zorlu, Yasar ^c   Ozes, Burcak ^b   Timmann, Dagmar ^g   Bender, Benjamin ^d   Woehlke, Günther ^h   Züchner, Stephan ^f   Schöls, Ludger ^a,e,f   Schüle, Rebecca ^a,e  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b BOGAZICI UNIVERSITY   (Turkey)

^c Tepecik Training and Research Hospital   (Turkey)

^d UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^e GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

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

^g UNIVERSITY OF DUISBURG ESSEN   (Germany)

^h TECHNICAL UNIVERSITY OF MUNICH   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; KIF1C PROTEIN; KINESIN; MOLECULAR MOTOR; MUTANT PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELLULAR DISTRIBUTION; CEREBELLAR ATAXIA; CERVICAL DYSTONIA; CHILD; CLINICAL ARTICLE; EVOKED RESPONSE; EXOME; FAMILY STUDY; FEMALE; FIBROBLAST CULTURE; GENE MUTATION; GENE SEQUENCE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MUSCLE ATROPHY; MUSCLE WEAKNESS; NERVE CONDUCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PATHOGENESIS; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; SPASTIC PARAPLEGIA; SPASTICITY; WESTERN BLOTTING;

ADULT; CELL MOVEMENT; FEMALE; GERMANY; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INTRACELLULAR SPACE; KINESIN; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; SEVERITY OF ILLNESS INDEX; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 84903973527     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000000479     Document Type: Article

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