Familial cerebellar ataxia with muscle coenzyme Q10 deficiency
- Author
- MUSUMECI, O1 ; NAINI, A1 ; DE VIVO, D. C1 ; HIRANO, M1 ; DIMAURO, S1 ; SLONIM, A. E2 ; SKAVIN, N2 ; HADJIGEORGIOU, G. L; KRAWIECKI, N3 ; WEISSMAN, B. M3 ; TSAO, C.-Y4 ; MENDELL, J. R5 ; SHANSKE, S1
[1] Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY, United States
[2] Department of Pediatrics, North Shore University Hospital, Manhasset, NY, United States
[3] Department of Pediatrics, Emory University, Atlanta, GA, United States
[4] Children's Hospital, Columbus, OH, United States
[5] Department of Neurology, Ohio State University, Columbus, United States - Source
Neurology. 2001, Vol 56, Num 7, pp 849-855 ; ref : 21 ref
- Publisher
- Lippincott Williams & Wilkins, Hagerstown, MD
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Adulte jeune Diagnostic différentiel Déficit Enfant Etiologie Etude cas Muscle strié Phénotype Ubiquinone Ataxie cérébelleuse Maladie familiale Cervelet pathologie Encéphale pathologie Enzymopathie Homme Maladie héréditaire Muscle strié pathologie Système nerveux central pathologie Système nerveux pathologie
- Keyword (en)
- Young adult Differential diagnostic Deficiency Child Etiology Case study Striated muscle Phenotype Ubiquinone Cerebellar ataxia Cerebellar disease Cerebral disorder Enzymopathy Human Genetic disease Striated muscle disease Central nervous system disease Nervous system diseases
- Keyword (es)
- Adulto joven Diagnóstico diferencial Déficiencia Niño Etiología Estudio caso Músculo estriado Fenotipo Ubiquinona Cerebelar enfermedad Encéfalo patología Enzimopatía Hombre Enfermedad hereditaria Músculo estriado 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
- 941083
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
10.1212/WNL.56.7.849 
https://dx.doi.org/10.1212/WNL.56.7.849
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