A novel variation in the Twinkle linker region causing late-onset dementia
- Author
- ECHANIZ-LAGUNA, Andoni1 ; CHANSON, Jean-Baptiste1 ; WILHELM, Jean-Marie2 ; SELLAL, François3 ; MAYENCON, Martine4 ; MOHR, Michel5 ; TRANCHANT, Christine1 ; MOUSSON DE CAMARET, Bénédicte4
[1] Département de Neurologie, Hôpital Civil, BP 426, 67091 Strasbourg, France
[2] Service de Médecine Interne, Centre Hospitalier Régional, 68130 Altkirch, France
[3] Service de Neurologie, Centre Hospitalier Régional, 68000 Colmar, France
[4] Service des Maladies Héréditaires du Métabolisme, Centre de Biologie et de Pathologie Est, CHU Lyon, 69677 Bron, France
[5] Département d'Anatomo-Pathologie, Hôpital de Hautepierre, 67091 Strasbourg, France - Source
Neurogenetics (Oxford. Print). 2010, Vol 11, Num 1, pp 21-25, 5 p ; ref : 15 ref
- Publisher
- Springer, Heidelberg
- Publication country
- Germany
- Document type
- Article
- Language
- English
- Author keyword
- Chronic progressive external ophthalmoplegia Dementia Mitochondrial disease Myopathy PEO1 Twinkle
- Keyword (fr)
- Chronique Cytopathie mitochondriale Démence Externe Génétique Myopathie Neurologie Ophtalmoplégie Pathologie du système nerveux Progressif Tardif Variation Enzymopathie Maladie dégénérative Maladie héréditaire Maladie métabolique Pathologie de l'oeil Syndrome oculomoteur
- Keyword (en)
- Chronic Mitochondrial disorder Dementia External Genetics Myopathy Neurology Ophthalmoplegia Nervous system diseases Progressive Late Variations Enzymopathy Degenerative disease Genetic disease Metabolic diseases Eye disease Oculomotor syndrome
- Keyword (es)
- Crónico Citopatía mitocondrial Demencia Externo Genética Miopatía Neurología Oftalmoplejía Sistema nervioso patología Progresivo Tardío Variación Enzimopatía Enfermedad degenerativa Enfermedad hereditaria Metabolismo patología Ojo patología Oculomotricidad síndrome
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A25 Vertebrates: nervous system and sense organs
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B09 Ophthalmology / 002B09M Oculomotor disorders
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Molecular and cell biology Ophthalmology Vertebrates : nervous system and sense organs
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 22341184
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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DOI
10.1007/s10048-009-0202-4 
https://dx.doi.org/10.1007/s10048-009-0202-4
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