title: CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia.
authors.affiliation: 1 Department of Neurodegenerative Disease, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK.
authors.forename: Samir
authors.initials: S
authors.lastname: Abdelkarim
authors.affiliation: 2 Department of Molecular Neuroscience, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK.
authors.forename: Sarah
authors.initials: S
authors.lastname: Morgan
authors.affiliation: 3 UCL Genetics Institute, Department of Genetics, Environment and Evolution, UCL, London WC1E 6BT, UK.
authors.forename: Vincent
authors.initials: V
authors.lastname: Plagnol
authors.affiliation: 4 Sobell Department of Motor Neuroscience and Movement Disorders, Queen Square, London, WC1N 3BG, UK 5 Centre for Neuroscience and Trauma, Blizard Institute, Queen Mary University of London, North-East London and Essex Regional MND Care Centre, E1 2AT, UK.
authors.forename: Ching-Hua
authors.initials: CH
authors.lastname: Lu
authors.affiliation: 6 Medical Research Council Prion Unit, Department of Neurodegenerative Disease, University College London Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
authors.forename: Gary
authors.initials: G
authors.lastname: Adamson
authors.affiliation: 7 National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.
authors.forename: Robin
authors.initials: R
authors.lastname: Howard
authors.affiliation: 5 Centre for Neuroscience and Trauma, Blizard Institute, Queen Mary University of London, North-East London and Essex Regional MND Care Centre, E1 2AT, UK.
authors.forename: Andrea
authors.initials: A
authors.lastname: Malaspina
authors.affiliation: 2 Department of Molecular Neuroscience, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK.
authors.forename: Richard
authors.initials: R
authors.lastname: Orrell
authors.affiliation: 4 Sobell Department of Motor Neuroscience and Movement Disorders, Queen Square, London, WC1N 3BG, UK.
authors.forename: Nikhil
authors.initials: N
authors.lastname: Sharma
authors.affiliation: 2 Department of Molecular Neuroscience, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK.
authors.forename: Katie
authors.initials: K
authors.lastname: Sidle
authors.affiliation: 7 National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.
authors.forename: Jan
authors.initials: J
authors.lastname: Clarke
authors.affiliation: 8 Dementia Research Centre, Department of Neurodegenerative Disease, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK.
authors.forename: Nick C
authors.initials: NC
authors.lastname: Fox
authors.affiliation: 8 Dementia Research Centre, Department of Neurodegenerative Disease, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK.
authors.forename: Martin N
authors.initials: MN
authors.lastname: Rossor
authors.affiliation: 8 Dementia Research Centre, Department of Neurodegenerative Disease, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK.
authors.forename: Jason D
authors.initials: JD
authors.lastname: Warren
authors.affiliation: 8 Dementia Research Centre, Department of Neurodegenerative Disease, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK.
authors.forename: Camilla N
authors.initials: CN
authors.lastname: Clark
authors.affiliation: 8 Dementia Research Centre, Department of Neurodegenerative Disease, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK.
authors.forename: Jonathan D
authors.initials: JD
authors.lastname: Rohrer
authors.affiliation: 1 Department of Neurodegenerative Disease, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK.
authors.forename: Elizabeth M C
authors.initials: EM
authors.lastname: Fisher
authors.affiliation: 6 Medical Research Council Prion Unit, Department of Neurodegenerative Disease, University College London Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
authors.forename: Simon
authors.initials: S
authors.lastname: Mead
authors.affiliation: 2 Department of Molecular Neuroscience, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK.
authors.forename: Alan
authors.initials: A
authors.lastname: Pittman
authors.affiliation: 1 Department of Neurodegenerative Disease, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK 4 Sobell Department of Motor Neuroscience and Movement Disorders, Queen Square, London, WC1N 3BG, UK p.fratta@ucl.ac.uk.
authors.forename: Pietro
authors.initials: P
authors.lastname: Fratta
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis / Q000235:genetics*; D015331:Cohort Studies; D057180:Frontotemporal Dementia / Q000175:diagnosis / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D019683:Penetrance; D011392:Proline / Q000235:genetics; D012694:Serine / Q000235:genetics
chemical_list: C554426:CHCHD10 protein, human; D024101:Mitochondrial Proteins; D012694:Serine; D011392:Proline