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AN ITALIAN FAMILY WITH INCLUSION-BODY MYOPATHY AND FRONTOTEMPORAL DEMENTIA DUE TO MUTATION IN THE VCP GENE

Author
GIDARO, Teresa1 ; MODONI, Anna1 ; SABATELLI, Mario1 ; TASCA, Giorgio1 ; BROCCOLINI, Aldobrando1 ; MIRABELLA, Massimiliano1 2
[1] Department of Neuroscience, Catholic University, L.go A. Gemelli 8, 00168 Rome, Italy
[2] Fondazione Don Carlo Gnocchi Onlus, Rome, Italy
Source

Muscle & nerve. 2008, Vol 37, Num 1, pp 111-114, 4 p ; ref : 8 ref

CODEN
MUNEDE
ISSN
0148-639X
Scientific domain
Neurology; Physiology, morphology
Publisher
Wiley, New York, NY
Publication country
United States
Document type
Article
Language
English
Author keyword
frontotemporal dementia; inclusion-body myopathy; Paget's disease valosin-containing protein; VCP
Keyword (fr)
Corps inclusion Démence frontotemporale Homme Héréditaire Maladie de Paget des os Maladie de Paget Mutation faux sens Myopathie Phénotype Protéine Signe Maladie dégénérative Pathologie de l'encéphale Pathologie du système nerveux central Pathologie du système nerveux
Keyword (en)
Inclusion body Frontotemporal dementia Human Hereditary Paget's disease of bone Paget disease Missense mutation Myopathy Phenotype Protein Sign Degenerative disease Cerebral disorder Central nervous system disease Nervous system diseases
Keyword (es)
Cuerpo inclusión Demencia frontotemporal Hombre Hereditario Osteopatía Paget Paget enfermedad Mutación falso sentido Miopatía Fenotipo Proteína Signo Enfermedad degenerativa Encéfalo patología Sistema nervosio central patología Sistema nervioso patología
Classification
Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17H Diseases of striated muscles. Neuromuscular diseases

Discipline
Neurology
Origin
Inist-CNRS
Database
PASCAL
INIST identifier
19953876

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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