EFNS guidelines on the molecular diagnosis of neurogenetic disorders: General issues, Huntington's disease, Parkinson's disease and dystonias

European Journal of Neurology

Volumn 16, Issue 7, 2009, Pages 777-785

  Harbo, H F ^a,b   Finsterer, J ^c   Baets, J ^d,e   Van Broeckhoven, C ^e   Di Donato, S ^f   Fontaine, B ^g   De Jonghe, P ^d,e   Lossos, A ^h   Lynch, T ⁱ   Mariotti, C ^f   Schols L ^j   Spinazzola, A ^f   Szolnoki, Z ^k   Tabrizi, S J ^l   Tallaksen, C ^b   Zeviani, M ^f   Burgunder, J M ^m   Gasser, T ^j  

^a OSLO UNIVERSITY HOSPITAL   (Norway)

^b UNIVERSITY OF OSLO   (Norway)

^c DANUBE UNIVERSITY KREMS   (Austria)

^d ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^e UNIVERSITY OF ANTWERP   (Belgium)

^f DEPARTMENT OF NEUROSURGERY   (Italy)

^g PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^h HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

ⁱ BEAUMONT HOSPITAL   (Ireland)

^j UNIVERSITY OF TÜBINGEN   (Germany)

^k Pandy County Hospital   (Hungary)

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

^m UNIVERSITY OF BERN   (Switzerland)

more..

Author keywords

Dystonia; EFNS task force; Huntington's disease; Molecular diagnosis; Neurogenetic; Parkinson disease

Indexed keywords

ALPHA SYNUCLEIN; ATROPHIN 1; DJ 1 PROTEIN; GENE PRODUCT; GLUCOSE TRANSPORTER 1; GLUCOSYLCERAMIDASE; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; HUNTINGTIN; JUNCTOPHILIN 3; LEUCINE RICH REPEAT KINASE 2; PARKIN; PRION PROTEIN; PROTEIN ATP13A2; PROTEIN ATP1A3; PROTEIN MR 1; PROTEIN PINK1; PROTEIN SGCE; PROTEIN TAF1; TATA BINDING PROTEIN; TORSIN A; TYROSINE 3 MONOOXYGENASE; UNCLASSIFIED DRUG;

DENTATORUBROPALLIDOLUYSIAN ATROPHY; DIAGNOSTIC PROCEDURE; DOPA RESPONSIVE DYSTONIA; DYSTONIA; GENETIC COUNSELING; HUMAN; HUNTINGTON CHOREA; HUNTINGTON DISEASE LIKE DISORDER 1; HUNTINGTON DISEASE LIKE DISORDER 2; INFORMED CONSENT; MOLECULAR GENETICS; MYOCLONUS DYSTONIA; PARKINSON DISEASE; PARKINSONISM; PAROXYSMAL DYSTONIA; PAROXYSMAL EXERCISE INDUCED DYSTONIA; POINT MUTATION; PRACTICE GUIDELINE; PRIORITY JOURNAL; PROGNOSIS; RAPID ONSET DYSTONIA PARKINSONISM; RECURRENCE RISK; REVIEW; SPINOCEREBELLAR DEGENERATION; TORSION DYSTONIA; X CHROMOSOMAL DYSTONIA PARKINSON SYNROME;

DATABASES, BIBLIOGRAPHIC; DYSTONIA; GENETIC COUNSELING; GUIDELINES AS TOPIC; HUMANS; HUNTINGTON DISEASE; MOLECULAR DIAGNOSTIC TECHNIQUES; PARKINSON DISEASE;

EID: 66749103174     PISSN: 13515101     EISSN: 14681331     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2009.02646.x     Document Type: Review

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