Tau filaments with the Alzheimer fold in cases with MAPT mutations V337M and R406W.

Autor: Qi C; MRC Laboratory of Molecular Biology, Cambridge, UK., Lövestam S; MRC Laboratory of Molecular Biology, Cambridge, UK., Murzin AG; MRC Laboratory of Molecular Biology, Cambridge, UK., Peak-Chew S; MRC Laboratory of Molecular Biology, Cambridge, UK., Franco C; MRC Laboratory of Molecular Biology, Cambridge, UK., Bogdani M; Departments of Neurology and Pathology, University of Washington, Seattle, USA.; Veterans Administration Puget Sound Health Care System, Seattle, USA., Latimer C; Departments of Neurology and Pathology, University of Washington, Seattle, USA.; Veterans Administration Puget Sound Health Care System, Seattle, USA., Murrell JR; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, USA.; Department of Pathology and Laboratory Medicine, Children's Hospital of the University of Pennsylvania, Philadelphia, USA., Cullinane PW; Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College, London UK.; Queen Square Brain Bank for Neurological Disorders, Institute of Neurology, University College, London, UK., Jaunmuktane Z; Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College, London UK.; Queen Square Brain Bank for Neurological Disorders, Institute of Neurology, University College, London, UK., Bird TD; Departments of Neurology and Pathology, University of Washington, Seattle, USA.; Veterans Administration Puget Sound Health Care System, Seattle, USA., Ghetti B; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, USA., Scheres SHW; MRC Laboratory of Molecular Biology, Cambridge, UK.; These authors jointly supervised this work: Sjors H.W. Scheres, Michel Goedert., Goedert M; MRC Laboratory of Molecular Biology, Cambridge, UK.; These authors jointly supervised this work: Sjors H.W. Scheres, Michel Goedert.

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2024 Apr 30. Date of Electronic Publication: 2024 Apr 30.

Late Presentation of Chronic Traumatic Encephalopathy in a Former Association Football Player.

Autor: Cullinane PW; Department of Clinical and Movement Neurosciences UCL Queen Square Institute of Neurology, University College London London United Kingdom.; Queen Square Brain Bank for Neurological Disorders UCL Queen Square Institute of Neurology London United Kingdom., Wrigley S; Department of Clinical and Movement Neurosciences UCL Queen Square Institute of Neurology, University College London London United Kingdom.; Queen Square Brain Bank for Neurological Disorders UCL Queen Square Institute of Neurology London United Kingdom., Bradshaw TY; Department of Clinical and Movement Neurosciences UCL Queen Square Institute of Neurology, University College London London United Kingdom., Shaw K; Department of Clinical and Movement Neurosciences UCL Queen Square Institute of Neurology, University College London London United Kingdom.; Queen Square Brain Bank for Neurological Disorders UCL Queen Square Institute of Neurology London United Kingdom., Shribman S; Department of Clinical and Movement Neurosciences UCL Queen Square Institute of Neurology, University College London London United Kingdom., de Pablo Fernandez E; Department of Clinical and Movement Neurosciences UCL Queen Square Institute of Neurology, University College London London United Kingdom.; Queen Square Brain Bank for Neurological Disorders UCL Queen Square Institute of Neurology London United Kingdom., Warner TT; Department of Clinical and Movement Neurosciences UCL Queen Square Institute of Neurology, University College London London United Kingdom.; Queen Square Brain Bank for Neurological Disorders UCL Queen Square Institute of Neurology London United Kingdom.; Queen Square Movement Disorders Centre UCL Queen Square Institute of Neurology London United Kingdom., Jaunmuktane Z; Department of Clinical and Movement Neurosciences UCL Queen Square Institute of Neurology, University College London London United Kingdom.; Queen Square Brain Bank for Neurological Disorders UCL Queen Square Institute of Neurology London United Kingdom.; Division of Neuropathology, National Hospital for Neurology and Neurosurgery University College London NHS Foundation Trust London United Kingdom.

Publikováno v: Movement disorders clinical practice [Mov Disord Clin Pract] 2023 Jul 14; Vol. 10 (9), pp. 1414-1418. Date of Electronic Publication: 2023 Jul 14 (Print Publication: 2023).

MAPT -Associated Familial Progressive Supranuclear Palsy with Typical Corticobasal Degeneration Neuropathology: A Clinicopathological Report.

Autor: Cullinane PW; Department of Clinical and Movement Neurosciences UCL Queen Square Institute of Neurology, University College London London UK.; Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology London UK., Fumi R; Department of Clinical and Movement Neurosciences UCL Queen Square Institute of Neurology, University College London London UK., Theilmann Jensen M; Department of Clinical and Movement Neurosciences UCL Queen Square Institute of Neurology, University College London London UK., Jabbari E; Department of Clinical and Movement Neurosciences UCL Queen Square Institute of Neurology, University College London London UK., Warner TT; Department of Clinical and Movement Neurosciences UCL Queen Square Institute of Neurology, University College London London UK.; Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology London UK.; Queen Square Movement Disorders Centre UCL Queen Square Institute of Neurology London UK., Revesz T; Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology London UK., Morris HR; Department of Clinical and Movement Neurosciences UCL Queen Square Institute of Neurology, University College London London UK.; Queen Square Movement Disorders Centre UCL Queen Square Institute of Neurology London UK., Rohrer JD; Dementia Research Centre UCL Queen Square Institute of Neurology, University College London London UK., Jaunmuktane Z; Department of Clinical and Movement Neurosciences UCL Queen Square Institute of Neurology, University College London London UK.; Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology London UK.; Division of Neuropathology, National Hospital for Neurology and Neurosurgery University College London NHS Foundation Trust London UK.

Publikováno v: Movement disorders clinical practice [Mov Disord Clin Pract] 2023 Mar 11; Vol. 10 (4), pp. 691-694. Date of Electronic Publication: 2023 Mar 11 (Print Publication: 2023).

Structures of α-synuclein filaments from human brains with Lewy pathology.

Autor: Yang Y; Medical Research Council Laboratory of Molecular Biology, Cambridge, UK., Shi Y; Medical Research Council Laboratory of Molecular Biology, Cambridge, UK., Schweighauser M; Medical Research Council Laboratory of Molecular Biology, Cambridge, UK., Zhang X; Thermo Fisher Scientific, Eindhoven, The Netherlands., Kotecha A; Thermo Fisher Scientific, Eindhoven, The Netherlands., Murzin AG; Medical Research Council Laboratory of Molecular Biology, Cambridge, UK., Garringer HJ; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA., Cullinane PW; Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London, London, UK.; Queen Square Brain Bank for Neurological Disorders, Institute of Neurology, University College London, London, UK., Saito Y; Department of Neuropathology, Metropolitan Institute of Gerontology, Tokyo, Japan., Foroud T; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA., Warner TT; Department of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London, London, UK.; Queen Square Brain Bank for Neurological Disorders, Institute of Neurology, University College London, London, UK., Hasegawa K; Division of Neurology, Sagamihara National Hospital, Sagamihara, Japan., Vidal R; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA., Murayama S; Molecular Research Centre for Children's Mental Development, United School of Child Development, University of Osaka, Osaka, Japan., Revesz T; Queen Square Brain Bank for Neurological Disorders, Institute of Neurology, University College London, London, UK.; Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London, London, UK., Ghetti B; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA., Hasegawa M; Department of Brain and Neurosciences, Metropolitan Institute of Medical Science, Tokyo, Japan., Lashley T; Queen Square Brain Bank for Neurological Disorders, Institute of Neurology, University College London, London, UK.; Department of Neurodegenerative Disease, Queen Square Institute of Neurology, University College London, London, UK., Scheres SHW; Medical Research Council Laboratory of Molecular Biology, Cambridge, UK. scheres@mrc-lmb.cam.ac.uk., Goedert M; Medical Research Council Laboratory of Molecular Biology, Cambridge, UK. mg@mrc-lmb.cam.ac.uk.

Publikováno v: Nature [Nature] 2022 Oct; Vol. 610 (7933), pp. 791-795. Date of Electronic Publication: 2022 Sep 15.

Phenotypic Variability in Leukoencephalopathy with Brain Calcifications and Cysts: Case Report of Siblings from an Irish Traveller Family with a Homozygous SNORD118 Mutation.

Autor: Cullinane PW; Department of Neurology, Mater Misericordiae University Hospital, Dublin, Ireland. patrick1cullinane@gmail.com., Lynch SA; Academic Centre on Rare Diseases, University College Dublin School of Medicine and Medical Science, Dublin, Ireland., Marnane M; Department of Neurology, Mater Misericordiae University Hospital, Dublin, Ireland.

Publikováno v: Journal of molecular neuroscience : MN [J Mol Neurosci] 2020 Sep; Vol. 70 (9), pp. 1354-1356. Date of Electronic Publication: 2020 May 02.