Neurological symptoms, genotype-phenotype correlations and ethnic-specific differences in Bulgarian patients with Wilson disease

Neurologist

Volumn 18, Issue 4, 2012, Pages 184-189

  Mihaylova, Violeta ^a   Todorov, Teodor ^b   Jelev, Hristo ^b   Kotsev, Iskren ^c   Angelova, Ludmila ^c   Kosseva, Olga ^d   Georgiev, Georgi ^e   Ganeva, Ralica ^f   Cherninkova, Silvia ^a   Tankova, Ludmila ^g   Savov, Aleksei ^b   Tournev, Ivailo ^a,h  

^a UNIVERSITY HOSPITAL ALEXANDROVSKA   (Bulgaria)

^b MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^c UNIVERSITY HOSPITAL ST MARINA   (Bulgaria)

^d University Hospital St I Rilski   (Bulgaria)

^e UNIVERSITY HOSPITAL ST GEORGE   (Bulgaria)

^f UNIVERSITY OF SOFIA   (Bulgaria)

^g University Hospital Queen Joanna   (Bulgaria)

^h NEW BULGARIAN UNIVERSITY   (Bulgaria)

Author keywords

ceruloplasmin; Kayser Fleischer ring; p.H1069Q; Roma; Wilson disease

Indexed keywords

COPPER; WILSON DISEASE PROTEIN;

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; ATAXIA; ATHETOSIS; BRADYKINESIA; CHILD; CHOREA; COMPUTER ASSISTED TOMOGRAPHY; DYSARTHRIA; DYSMETRIA; DYSPHAGIA; DYSTONIA; ECHOGRAPHY; EPILEPSY; ETHNIC DIFFERENCE; FEMALE; GENE MUTATION; GENOTYPE; HEMIBALLISM; HUMAN; HYPERSALIVATION; MAJOR CLINICAL STUDY; MALE; MEDICAL HISTORY; MOLECULAR GENETICS; MYOCLONUS; NEUROLOGIC DISEASE; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PSEUDOBULBAR PALSY; PYRAMIDAL SIGN; RIGIDITY; SCHOOL CHILD; SLIT LAMP; TREMOR; WILSON DISEASE;

ADENOSINE TRIPHOSPHATASES; ADOLESCENT; ADULT; AGED; BRAIN; BULGARIA; CATION TRANSPORT PROTEINS; CHILD; FEMALE; GENETIC ASSOCIATION STUDIES; HEPATOLENTICULAR DEGENERATION; HUMANS; MALE; MIDDLE AGED; MUTATION; YOUNG ADULT;

EID: 84863581693     PISSN: 10747931     EISSN: None     Source Type: Journal    
DOI: 10.1097/NRL.0b013e31825cf3b7     Document Type: Article

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