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Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain

Author
LAURA, Matilde1 ; MILANI, Micaela1 ; MORBIN, Michela2 ; MOGGIO, Maurizio3 ; RIPOLONE, Michela3 ; JANN, Stefano4 ; SCAIOLI, Vidmer5 ; TARONI, Franco1 ; PAREYSON, Davide1
[1] UO Biochimica e Genetica, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
[2] UO Neuropatologia, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
[3] Fondazione Ospedale Maggiore IRCCS, Centro Dino Ferrari, Università degli Studi di Milano, Milan, Italy
[4] Divisione di Neurologia, Ospedale Niguarda, Milan, Italy
[5] UO Neurofisiologia Clinica, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy
Source

Journal of neurology, neurosurgery and psychiatry. 2007, Vol 78, Num 11, pp 1263-1266, 4 p ; ref : 11 ref

CODEN
JNNPAU
ISSN
0022-3050
Scientific domain
Neurology; Psychology, psychopathology, psychiatry
Publisher
BMJ, London
Publication country
United Kingdom
Document type
Article
Language
English
Keyword (fr)
Amyotrophie Charcot Marie Tooth Mutation Système nerveux pathologie Maladie dégénérative Maladie héréditaire Moelle épinière pathologie Neuromusculaire pathologie Système nerveux central pathologie
Keyword (en)
Charcot Marie Tooth disease Mutation Nervous system diseases Degenerative disease Genetic disease Spinal cord disease Neuromuscular diseases Central nervous system disease
Keyword (es)
Amiotrofía Charcot Marie Tooth Mutación Sistema nervioso patología Enfermedad degenerativa Enfermedad hereditaria Médula espinal patología Neuromuscular patología Sistema nervosio central patología
Classification
Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17A Nervous system (semeiology, syndromes) / 002B17A03 Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy

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

Discipline
Neurology
Origin
Inist-CNRS
Database
PASCAL
INIST identifier
19169028

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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