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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

CODEN
JMDGAE
ISSN
0022-2593
Scientific domain
Genetics
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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