A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy
- Author
- VEZAIN, Myriam1 ; SAUGIER-VEBER, Pascale1 ; BOU, Jacqueline1 ; FREBOURG, Thierry1 ; TOSI, Mario1 ; MELKI, Judith2 ; TOUTAIN, Annick3 ; BIETH, Eric4 ; HUSSON, Marie5 ; PEDESPAN, Jean-Michel5 ; VIOLLET, Louis6 ; PENISSON-BESNIER, Isabelle7 ; FEHRENBACH, Séverine1
[1] Department of Genetics, Rouen University Hospital and INSERM U614, Institute for Biomedical Research, University of Rouen, Rouen, France
[2] INSERM U798, University ofEvry, Génopole, France
[3] Department of Genetics, Tours University Hospital, Tours, France
[4] Department of Genetics, Toulouse University Hospital, Toulouse, France
[5] Department ofPediatrics, Bordeaux University Hospital, Bordeaux, France
[6] Department of Genetics, Necker-Enfants Malades University Hospital, Paris, France
[7] Department of Neurology, Angers University Hospital, Angers, France - Source
European journal of human genetics. 2007, Vol 15, Num 10, pp 1054-1062, 9 p ; ref : 34 ref
- Publisher
- Nature Publishing, Avenel, NJ
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- SMN transcripts clinical trials spinal muscular atrophy
- Keyword (fr)
- Amyotrophie médullaire Dosage Echantillon Essai clinique Génétique Homme Malade Muscle Pathologie du système nerveux central RNA messager Sang Maladie dégénérative Pathologie de la moelle épinière Pathologie du système nerveux Pathologie neuromusculaire
- Keyword (en)
- Spinal amyotrophy Assay Sample Clinical trial Genetics Human Patient Muscle Central nervous system disease Messenger RNA Blood Degenerative disease Spinal cord disease Nervous system diseases Neuromuscular diseases
- Keyword (es)
- Amiotrofía medular Dosificación Muestra Ensayo clínico Genética Hombre Enfermo Músculo Sistema nervosio central patología RNA mensajero Sangre Enfermedad degenerativa Médula espinal patología Sistema nervioso patología Neuromuscular patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- 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 / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 20041139
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
10.1038/sj.ejhg.5201885 
https://dx.doi.org/10.1038/sj.ejhg.5201885
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