Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum
- Author
- CRIMELLA, C1 ; ARNOLDI, A1 ; TOSCANO, A5 ; MUSUMECI, O5 ; BENEDETTI, S6 ; FAZIO, R7 ; BRESOLIN, N1 8 ; DAGA, A9 ; MARTINUZZI, A10 ; BASSI, M. T1 ; CRIPPA, F1 ; MOSTACCIUOLO, M. L2 ; BOARETTO, F2 ; SIRONI, M3 ; GRAZIA D'ANGELO, M4 ; MANZONI, S4 ; PICCININI, L4 ; TURCONI, A. C4
[1] Scientific Institute E. Medea, Laboratory of Molecular Biology, Bosisio Parini, Italy
[2] Department of Biology, University of Padova, Italy
[3] Scientific Institute E. Medea Laboratory of Bioinformatics, Bosisio Parini, Italy
[4] Scientific Institute E. Medea, Neuromuscular and Neurorehabilitation Unit, Bosisio Parini, Italy
[5] Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy
[6] Laboratory of Clinical Molecular Biology, Diagnostica e Ricerca San Raffaele, Milan, Italy
[7] Department of Neurology, and Institute of Experimental Neurology (INSpe), San Raffaele Scientific Institute, Milan, Italy
[8] Dino Ferrari Centre, IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena Foundation, Department of Neurological Sciences University of Milan, Italy
[9] Dulbecco Telethon Institute at the E Medea Scientific Institute, Conegliano Research Center, Conegliano, Italy
[10] Scientific Institute E. Medea, Conegliano Research Center, Conegliano, Italy - Source
Journal of medical genetics. 2009, Vol 46, Num 5, pp 345-351, 7 p ; ref : 25 ref
- Publisher
- BMJ Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Complication Corps calleux Délétion Génétique Homme Mutation ponctuelle Paraplégie Aberration chromosomique Pathologie du système nerveux Trouble moteur Trouble neurologique
- Keyword (en)
- Complication Corpus callosum Deletion Genetics Human Point mutation Paraplegia Chromosomal aberration Nervous system diseases Motor system disorder Neurological disorder
- Keyword (es)
- Complicación Cuerpo calloso Deleción Genética Hombre Mutación puntual Paraplejía Aberración cromosómica Sistema nervioso patología Trastorno motor Trastorno neurológico
- 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 / 002B Medical sciences / 002B17 Neurology / 002B17A Nervous system (semeiology, syndromes) / 002B17A01 Nervous system as a whole
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 21416000
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
10.1136/jmg.2008.063321 
https://dx.doi.org/10.1136/jmg.2008.063321
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