H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?

Movement Disorders

Volumn 30, Issue 6, 2015, Pages 828-833

  Erro, Roberto ^a,b   Hersheson, Joshua ^c   Ganos, Christos ^a,d   Mencacci, Niccoló E ^c   Stamelou, Maria ^a,e,f   Batla, Amit ^a   Thust, Stefanie Catherine ^c   Bras, Jose M ^c   Guerreiro, Rita J ^c   Hardy, John ^c   Quinn, Niall P ^a   Houlden, Henry ^c   Bhatia, Kailash P ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF VERONA   (Italy)

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

^d UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^e UNIVERSITY OF ATHENS   (Greece)

^f Philipps University   (Germany)

Author keywords

Beta tubulin; DYT4; Hypomyelination with atrophy of basal ganglia and cerebellum; Mutations; TUBB4A; Whispering dystonia

Indexed keywords

ADULT; ANARTHRIA; APHONIA; ARTICLE; BASAL GANGLION; BRAIN ATROPHY; CASE REPORT; CEREBELLUM; CEREBELLUM ATROPHY; CEREBELLUM DISEASE; CLINICAL FEATURE; CLONUS; CONTRACTURE; DEGENERATIVE DISEASE; DEMYELINATING DISEASE; DISEASE SEVERITY; DYSPHAGIA; EXON; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; GENERALIZED DYSTONIA; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; HYPOMYELINATION WITH ATROPHY OF THE BASAL GANGLIA AND CEREBELLUM SYNDROME; LIMB WEAKNESS; MALE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OCULOGYRIC CRISIS; PHENOTYPE; PLEIOTROPY; PRIORITY JOURNAL; PYRAMIDAL SIGN; SACCADIC EYE MOVEMENT; SPEECH DISORDER; SWEATING; TUBB4A GENE; GENETICS; LEUKOENCEPHALOPATHY; MUTATION; PATHOLOGY; PATHOPHYSIOLOGY; TORSION DYSTONIA; VOICE DISORDERS;

TUBB4A PROTEIN, HUMAN; TUBULIN;

ADULT; BASAL GANGLIA; CEREBELLUM; DYSTONIA MUSCULORUM DEFORMANS; EXONS; FEMALE; GENETIC PLEIOTROPY; HETEROZYGOTE; HUMANS; LEUKOENCEPHALOPATHIES; MALE; MUTATION; PHENOTYPE; TUBULIN; VOICE DISORDERS;

EID: 84929656299     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.26129     Document Type: Article

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