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Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia.
Gkazi, Soragia Athina; Troakes, Claire; Topp, Simon; Miller, Jack W; Vance, Caroline A; Sreedharan, Jemeen; Al-Chalabi, Ammar; Kirby, Janine; Shaw, Pamela J; Al-Sarraj, Safa; King, Andrew; Smith, Bradley N; Shaw, Christopher E.
Affiliation
  • Gkazi SA; United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, Camberwell, London, UK.
  • Troakes C; United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, Camberwell, London, UK.
  • Topp S; United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, Camberwell, London, UK.
  • Miller JW; United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, Camberwell, London, UK.
  • Vance CA; United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, Camberwell, London, UK.
  • Sreedharan J; United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, Camberwell, London, UK.
  • Al-Chalabi A; United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, Camberwell, London, UK.
  • Kirby J; Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK.
  • Shaw PJ; Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK.
  • Al-Sarraj S; United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, Camberwell, London, UK.
  • King A; United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, Camberwell, London, UK.
  • Smith BN; United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, Camberwell, London, UK.
  • Shaw CE; United Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, Camberwell, London, UK. Electronic address: chris.shaw@kcl.ac.uk.
Neurobiol Aging ; 73: 229.e5-229.e9, 2019 01.
Article in En | MEDLINE | ID: mdl-30348461
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Paraplegia / Ubiquitins / Cell Cycle Proteins / Frontotemporal Dementia / Amyotrophic Lateral Sclerosis / Mutation Type of study: Prognostic_studies Limits: Adult / Animals / Female / Humans / Male / Middle aged Language: En Journal: Neurobiol Aging Year: 2019 Document type: Article Affiliation country: Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Paraplegia / Ubiquitins / Cell Cycle Proteins / Frontotemporal Dementia / Amyotrophic Lateral Sclerosis / Mutation Type of study: Prognostic_studies Limits: Adult / Animals / Female / Humans / Male / Middle aged Language: En Journal: Neurobiol Aging Year: 2019 Document type: Article Affiliation country: Country of publication: