A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.

Autor: Beijer D; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, 33136 FL, USA.; Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany., Dohrn MF; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, 33136 FL, USA.; Department of Neurology, Medical Faculty RWTH Aachen University, 52074 Aachen, Germany., Rebelo A; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, 33136 FL, USA., Danzi MC; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, 33136 FL, USA., Grosz BR; Northcott Neuroscience Laboratory ANZAC Research Institute, Sydney Local Health District, School of Medical Sciences, University of Sydney, NSW 2139, Sydney, Australia., Ellis M; Northcott Neuroscience Laboratory ANZAC Research Institute, Sydney Local Health District, School of Medical Sciences, University of Sydney, NSW 2139, Sydney, Australia., Kumar KR; Department of Neurology and Molecular Medicine Laboratory, Sydney Medical School, University of Sydney, Concord Hospital, NSW 2139, Sydney, Australia., Vucic S; Brain and Nerve Research Centre, Concord Hospital, Sydney Medical School, University of Sydney, NSW 2139, Sydney, Australia., Vais H; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, 19104 PA, USA., Weissenrieder JS; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, 19104 PA, USA., Lunko O; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, 19104 PA, USA., Paudel U; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, 19104 PA, USA., Simpson LC; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, 19104 PA, USA., Raposo J; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, 33136 FL, USA., Saporta M; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, 33136 FL, USA.; Department of Neurology, University of Miami Miller School of Medicine, Miami, 33136 FL, USA., Arcia Y; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, 33136 FL, USA., Xu I; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, 33136 FL, USA., Feely S; Neurology, The University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, 55242 IA, USA., Record CJ; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N36BG London, United Kingdom., Blake J; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N36BG London, United Kingdom.; Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, NR4 7UY Norwich, UK., Reilly MM; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N36BG London, United Kingdom., Scherer S; Department of Neurology, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, 19104 PA, USA., Kennerson M; Northcott Neuroscience Laboratory ANZAC Research Institute, Sydney Local Health District, School of Medical Sciences, University of Sydney, NSW 2139, Sydney, Australia.; Department of Neurology and Molecular Medicine Laboratory, Sydney Medical School, University of Sydney, Concord Hospital, NSW 2139, Sydney, Australia., Lee YC; Department of Neurology, Taipei Veterans General Hospital, 112 Taipei, Taiwan., Foskett JK; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, 19104 PA, USA.; Department of Cell and Developmental Biology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, 19104 PA, USA., Shy M; Department of Neurology, University of Iowa, Carver College of Medicine, Iowa City, 55242 IA, USA., Zuchner S; Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, 33136 FL, USA.

Publikováno v: Brain : a journal of neurology [Brain] 2024 Jun 28. Date of Electronic Publication: 2024 Jun 28.

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Exploring the Semantic Structure of WMS-IV Verbal Paired Associates using the Hub-and-Spoke Model.

Autor: Furey RT; Melbourne School of Psychological Sciences, University of Melbourne, Melbourne, Australia., Bowden SC; Melbourne School of Psychological Sciences, University of Melbourne, Melbourne, Australia.; Department of Clinical Neurosciences, St. Vincent's Hospital, Melbourne, Australia., Simpson LC; Department of Clinical Neurosciences, St. Vincent's Hospital, Melbourne, Australia., Meade CE; Department of Clinical Neurosciences, St. Vincent's Hospital, Melbourne, Australia., Davis BM; Department of Clinical Neurosciences, St. Vincent's Hospital, Melbourne, Australia., D'Souza WJ; Comprehensive Epilepsy Program, St. Vincent's Hospital, Melbourne, Australia.

Publikováno v: Journal of the International Neuropsychological Society : JINS [J Int Neuropsychol Soc] 2022 May; Vol. 28 (5), pp. 494-502. Date of Electronic Publication: 2021 May 24.

The Latent-Variable Structure of the Addenbrooke's Cognitive Examination-Revised.

Autor: Connolly ML; Melbourne School of Psychological Sciences, The University of Melbourne, Parkville, Australia., Bowden SC; Melbourne School of Psychological Sciences, The University of Melbourne, Parkville, Australia.; Centre for Clinical Neurosciences & Neurological Research, St Vincent's Hospital, Melbourne, Australia., Simpson LC; Centre for Clinical Neurosciences & Neurological Research, St Vincent's Hospital, Melbourne, Australia., Horne M; Centre for Clinical Neurosciences & Neurological Research, St Vincent's Hospital, Melbourne, Australia.; Florey Institute of Neuroscience & Mental Health, The University of Melbourne, Parkville, Australia., McGregor S; Centre for Clinical Neurosciences & Neurological Research, St Vincent's Hospital, Melbourne, Australia.

Publikováno v: Archives of clinical neuropsychology : the official journal of the National Academy of Neuropsychologists [Arch Clin Neuropsychol] 2020 Feb 20; Vol. 35 (2), pp. 205-212.