GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features
- Author
- BIANCHERI, Roberta1 ; ZARA, Federico1 ; MINETTI, Carlo1 ; STRIANO, Pasquale1 2 ; PEDEMONTE, Marina1 ; CASSANDRINI, Denise1 ; STRINGARA, Silvia1 ; MANGANELLI, Fiore2 ; SANTORO, Lucio2 ; SCHENONE, Angelo3 ; BELLONE, Emilia4
[1] Dept. of Neuroscience and Rehabilitation Giannina Gaslini Institute Muscular and Neurodegenerative Disease Unit, University of Genova Largo G. Gaslini 5, 16147 Genova, Italy
[2] Dept. of Neurological Sciences Federico II University, Naples, Italy
[3] Dept. of Neurosciences Ophthalmology and Genetics University of Genova, Genova, Italy
[4] Dept. of Neuroscience Ophthalmology and Genetics Section of Medical Genetics University of Genova, Genova, Italy - Source
Journal of neurology. 2006, Vol 253, Num 9, pp 1234-1235, 2 p ; ref : 8 ref
- Publisher
- Springer, Berlin
- Publication country
- Germany
- 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 / 002B17G Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
- 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
- 18373614
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/s00415-006-0149-4 
https://dx.doi.org/10.1007/s00415-006-0149-4
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