Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
- Resource Type
- Source
- Nature neuroscience
Nature Neuroscience; Vol 17
17 (2014): 664–666. doi:10.1038/nn.3688
info:cnr-pdr/source/autori:Johnson J.O.; Pioro E.P.; Boehringer A.; Chia R.; Feit H.; Renton A.E.; Pliner H.A.; Abramzon Y.; Marangi G.; Winborn B.J.; Gibbs J.R.; Nalls M.A.; Morgan S.; Shoai M.; Hardy J.; Pittman A.; Orrell R.W.; Malaspina A.; Sidle K.C.; Fratta P.; Harms M.B.; Baloh R.H.; Pestronk A.; Weihl C.C.; Rogaeva E.; Zinman L.; Drory V.E.; Borghero G.; Mora G.; Calvo A.; Rothstein J.D.; Drepper C.; Sendtner M.; Singleton A.B.; Taylor J.P.; Cookson M.R.; Restagno G.; Sabatelli M.; Bowser R.; Chio A.; Traynor B.J./titolo:Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis/doi:10.1038%2Fnn.3688/rivista:Nature neuroscience (Print)/anno:2014/pagina_da:664/pagina_a:666/intervallo_pagine:664–666/volume:17 - Subject
Male Aged, Aged 80 and over, Amyotrophic Lateral Sclerosis genetics/pathology, Computational Biology, DNA Mutational Analysis, DNA-Binding Proteins metabolism, Family Health, Female, Genetic Predisposition to Disease genetics, Genotype, Humans, Male, Middle Aged, Muscle Skeletal metabolism/pathology, Mutation genetics, Neurologic Examination, Nuclear Matrix-Associated Proteins genetics/metabolism, RNA-Binding Proteins genetics/metabolism, Spinal Cord metabolism/pathology DNA Mutational Analysis genetics/metabolism RNA-binding protein Settore MED/03 - GENETICA MEDICA medicine.disease_cause 0302 clinical medicine Nuclear Matrix-Associated Proteins Genotype 80 and over genetics Amyotrophic lateral sclerosis Exome sequencing Genetics Aged, 80 and over Neurologic Examination 0303 health sciences Mutation General Neuroscience RNA-Binding Proteins Middle Aged DNA-Binding Proteins MATR3 medicine.anatomical_structure Spinal Cord familial amyotrophic lateral sclerosis Muscle Settore MED/26 - Neurologia Female Frontotemporal dementia Article 03 medical and health sciences mental disorders medicine Humans Genetic Predisposition to Disease Muscle, Skeletal 030304 developmental biology Aged Family Health business.industry Amyotrophic Lateral Sclerosis genetics/pathology RNA Computational Biology Spinal cord medicine.disease genetic business Neuroscience metabolism 030217 neurology & neurosurgery - Language
- English
- ISSN
- 1546-1726