ADULT POLYGLUCOSAN BODY DISEASE : PROTON MAGNETIC RESONANCE SPECTROSCOPY OF THE BRAIN AND NOVEL MUTATION IN THE GBE1 GENE
- Author
- MASSA, Roberto1 ; BRUNO, Claudio2 ; MARTORANA, Alessandro1 ; DE STEFANO, Nicola3 ; VAN DIGGELEN, Otto P4 ; FEDERICO, Antonio3
[1] Dipartimento di Neuroscienze, Università di Roma Tor Vergata and Fondazione Santa Lucia, Roma, Italy
[2] Unità Operativa Malattie Neuromuscolari, Dipartimento di Pediatria, Università di Genova and Dipartimento di Neuroscienze e Riabilitazione, Istituto G. Gaslini, Genova, Italy
[3] Unità Operativa Malattie Neurometaboliche, Istituto di Scienze Neurologiche, Università di Siena, Siena, Italy
[4] Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, Netherlands - Source
Muscle & nerve. 2008, Vol 37, Num 4, pp 530-536, 7 p ; ref : 35 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
- GBE1 gene mutation adult polyglucosan body disease glycogen branching enzyme nerve pathology proton magnetic resonance spectroscopic imaging
- Keyword (fr)
- Axone Dégénérescence Homme Imagerie RMN Mutation faux sens Myéline Proton Résonance magnétique Système nerveux central Système nerveux périphérique
- Keyword (en)
- Axon Degeneration Human Nuclear magnetic resonance imaging Missense mutation Myelin Proton Magnetic resonance Central nervous system Peripheral nervous system
- Keyword (es)
- Axón Degeneración Hombre Imaginería RMN Mutación falso sentido Mielina Protón Resonancia magnética Sistema nervioso central Sistema nervioso periférico
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A25 Vertebrates: nervous system and sense organs / 002A25E Motor control and motor pathways. Reflexes. Control centers of vegetative functions. Vestibular system and equilibration
- Discipline
- Vertebrates : nervous system and sense organs
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 20243216
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
10.1002/mus.20916 
https://dx.doi.org/10.1002/mus.20916
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