Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
- Author
- WU, Chi-Hong1 ; FALLINI, Claudia2 ; KOST, Jason E1 ; GONZALEZ-PEREZ, Paloma1 ; FOX, Andrew D1 ; ADAMS, Jenni1 ; TARONI, Franco6 ; TILOCA, Cinzia3 7 ; LYN LECLERC, Ashley1 ; CHAFE, Shawn C8 ; MANGROO, Dev8 ; MOORE, Melissa J9 ; TICOZZI, Nicola3 ; ZITZEWITZ, Jill A10 ; XU, Zuo-Shang10 ; DEN BERG, Leonard H. Van5 ; GLASS, Jonathan D11 ; SICILIANO, Gabriele12 ; CIRULLI, Elizabeth T13 ; GOLDSTEIN, David B13 ; SALACHAS, Francois14 ; MEININGER, Vincent14 ; ROSSOLL, Wilfried2 ; KEAGLE, Pamela J1 ; RATTI, Antonia15 3 ; GELLERA, Cinzia6 ; BOSCO, Daryl A1 ; BASSELL, Gary J11 2 ; SILANI, Vincenzo15 3 ; DRORY, Vivian E16 ; BROWN, Robert H1 ; LANDERS, John E1 ; SAPP, Peter C1 4 ; PIOTROWSKA, Katarzyna1 ; LOWE, Patrick1 ; KOPPERS, Max5 ; MCKENNA-YASEK, Diane1 ; BARON, Desiree M1
[1] Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts 01605, United States
[2] Department of Cell Biology, Emory University School of Medicine, Atlanta, Georgia 30322, United States
[3] Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan 20149, Italy
[4] Howard Hughes Medical Institute (HHMI), Department of Biology. Massachusetts Institute of Technology, 77 Massachusetts Avenue, Cambridge, Massachusetts 02139, United States
[5] Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, 3584 CX Utrecht, Netherlands
[6] Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico 'Carlo Besta1, Milan 20133, Italy
[7] Doctoral School in Molecular Medicine, Department of Sciences and Biomedical Technologies, Universltà degli Studi di Milano, Milan 20122, Italy
[8] Department of Molecular and Cellular Biology, University of Guelph, Guelph, Ontario N1G2W1, Canada
[9] Department of Biochemistry and Molecular Pharmacology, Howard Hughes Medical Institute, University of Massachusetts Medical School, Worcester, Massachusetts 01605, United States
[10] Department of Biochemistry and Molecular Pharmacology, University of Massachusetts Medical School, Worcester, Massachusetts 01605, United States
[11] Department of Neurology, Center for Neurodegenerative Disease, Emory University School of Medicine, Atlanta, Georgia 30322, United States
[12] Department of Neuroscience, University of Pisa, 56126 Pisa, Italy
[13] Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina 27708, United States
[14] Centre Referent Maladies Rares,APHP, UPMC, Hôpital de la Salpêtrière, Paris 75013, France
[15] Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti, 'Dino Ferrari' Center, Università degli Studi di Milano, Milan 20122, Italy
[16] Department of Neurology, Tel-Aviv Sourasky Medical Center, 6 Weizmann Street, 64239 Tel-Aviv, Israel - Source
Nature (London). 2012, Vol 488, Num 7412, pp 499-503, 5 p ; ref : 30 ref
- CODEN
- NATUAS
- ISSN
- 0028-0836
- Scientific domain
- Multidisciplinary
- Publisher
- Nature Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Gène Homme Mutation Sclérose latérale amyotrophique Profiline Maladie dégénérative Pathologie de la moelle épinière Pathologie du système nerveux central Pathologie du système nerveux
- Keyword (en)
- Gene Human Mutation Amyotrophic lateral sclerosis Degenerative disease Spinal cord disease Central nervous system disease Nervous system diseases
- Keyword (es)
- Gen Hombre Mutación Esclerosis lateral amiotrófica Enfermedad degenerativa Médula espinal patología Sistema nervosio central patología Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution / 002A07C Classical genetics, quantitative genetics, hybrids / 002A07C03 Human
- Discipline
- Eukaryotes genetics. Biological and molecular evolution
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 26256103
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/nature11280 
https://dx.doi.org/10.1038/nature11280
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