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Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification

DJARMATI, Ana1 2 ; GUZVIC, Miodrag1 2 3 ; HEDRICH, Katja1 2 ; KLEIN, Christine1 ; GRÜNEWALD, Anne1 2 ; LANG, Anthony E4 ; PRAMSTALLER, Peter P5 ; SIMON, David K6 ; KAINDL, Angela M7 8 ; VIEREGGE, Peter1 9 ; NYGREN, Anders O. H10 ; BEETZ, Christian11
[1] Department of Neurology, University of Lübeck, Liibeck, Germany
[2] Department of Human Genetics, University of Liibeck, Lübeck, Germany
[3] Laboratory for Radiobiology and Molecular Genetics, Institute of Nuclear Sciences Vinca, Belgrade, Serbia and Montenegro
[4] Movement Disorders Centre, Toronto Western Hospital, Toronto, Canada
[5] Institute of Genetic Medicine, EURAC-Research, Bolzano-Bozen, Italy
[6] Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, United States
[7] Department of Pediatric Neurology, Charite University Medicine Berlin, Berlin, Germany
[8] Department of Pediatric Neurology, University Hospital Dresden, Dresden, Germany
[9] Department of Neurology, Hospital Lippe-Lemgo, Lemgo, Germany
[10] MRC-Holland, Amsterdam, Netherlands
[11] Institut of Clinical Chemistry and Laboratory Diagnostics, University Hospital of the Friedrich Schiller University, Jena, Germany

Movement disorders. 2007, Vol 22, Num 12, pp 1708-1714, 7 p ; ref : 20 ref

Scientific domain
Wiley, Hoboken, NJ
Publication country
United States
Document type
Author keyword
Parkinson's disease dopa-responsive dystonia exon rearrangements multiplex ligation-dependent probe amplification myoclonus-dystonia
Keyword (fr)
Amplification Dystonie Dépistage Exon Myoclonie Parkinson maladie Réarrangement génique Système nerveux pathologie Segawa maladie Encéphale pathologie Extrapyramidal syndrome Maladie dégénérative Maladie héréditaire Mouvement involontaire Muscle strié pathologie Système nerveux central pathologie Trouble neurologique
Keyword (en)
Amplification Dystonia Medical screening Exon Myoclonus Parkinson disease Gene rearrangement Nervous system diseases Segawa disease Cerebral disorder Extrapyramidal syndrome Degenerative disease Genetic disease Involuntary movement Striated muscle disease Central nervous system disease Neurological disorder
Keyword (es)
Amplificación Distonía Descubrimiento Exón Mioclonia Parkinson enfermedad Redisposición génica Sistema nervioso patología Segawa enfermedad Encéfalo patología Extrapiramidal síndrome Enfermedad degenerativa Enfermedad hereditaria Movimiento involuntario Músculo estriado patología Sistema nervosio central patología Trastorno neurológico
002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17A Nervous system (semeiology, syndromes) / 002B17A01 Nervous system as a whole

002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17G Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases

INIST identifier

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS

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