Aberrant splicing of PSEN2, but not PSEN1, in individuals with sporadic Alzheimer's disease.

Autor: Course MM; Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA 98195, USA.; Department of Molecular Biology, Colorado College, Colorado Springs, CO 80903, USA., Gudsnuk K; Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA 98195, USA., Keene CD; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA., Bird TD; Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA 98195, USA.; Northwest Mental Illness Research, Education and Clinical Centers, VA Puget Sound Health Care System, Seattle, WA 98108, USA.; Geriatrics Research Education and Clinical Center, Puget Sound VA Medical Center, Seattle, WA 98108, USA.; Department of Neurology, University of Washington School of Medicine, Seattle, WA 98195, USA., Jayadev S; Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA 98195, USA.; Department of Neurology, University of Washington School of Medicine, Seattle, WA 98195, USA., Valdmanis PN; Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA 98195, USA.

Publikováno v: Brain : a journal of neurology [Brain] 2023 Feb 13; Vol. 146 (2), pp. 507-518.

Evolution of a Human-Specific Tandem Repeat Associated with ALS.

Autor: Course MM; Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA 98195, USA., Gudsnuk K; Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA 98195, USA., Smukowski SN; Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA 98195, USA., Winston K; Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA 98195, USA., Desai N; Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA 98195, USA., Ross JP; Montreal Neurological Institute and Hospital, McGill University, Montreal, QC H3A 2B4, Canada; Department of Human Genetics, McGill University, Montreal, QC H3A 0C7, Canada., Sulovari A; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Bourassa CV; Montreal Neurological Institute and Hospital, McGill University, Montreal, QC H3A 2B4, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A 2B4, Canada., Spiegelman D; Montreal Neurological Institute and Hospital, McGill University, Montreal, QC H3A 2B4, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A 2B4, Canada., Couthouis J; Department of Genetics, Stanford University, Stanford, CA 94305, USA., Yu CE; Geriatric Research, Education, and Clinical Center, VA Puget Sound Health Care System, Seattle, WA 98108, USA., Tsuang DW; Geriatric Research, Education, and Clinical Center, VA Puget Sound Health Care System, Seattle, WA 98108, USA., Jayadev S; Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA 98195, USA; Department of Neurology, University of Washington School of Medicine, Seattle, WA 98195, USA., Kay MA; Department of Genetics, Stanford University, Stanford, CA 94305, USA; Department of Pediatrics, Stanford University, Stanford, CA 94305, USA., Gitler AD; Department of Genetics, Stanford University, Stanford, CA 94305, USA., Dupre N; Neuroscience Axis, CHU de Québec-Université Laval & Department of Medicine, Université Laval, Quebec City, QC G1J 1Z4, Canada., Eichler EE; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA., Dion PA; Montreal Neurological Institute and Hospital, McGill University, Montreal, QC H3A 2B4, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A 2B4, Canada., Rouleau GA; Montreal Neurological Institute and Hospital, McGill University, Montreal, QC H3A 2B4, Canada; Department of Human Genetics, McGill University, Montreal, QC H3A 0C7, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, QC H3A 2B4, Canada., Valdmanis PN; Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address: paulnv@uw.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2020 Sep 03; Vol. 107 (3), pp. 445-460. Date of Electronic Publication: 2020 Aug 03.

Prophylactic In Vivo Hematopoietic Stem Cell Gene Therapy with an Immune Checkpoint Inhibitor Reverses Tumor Growth in Syngeneic Mouse Tumor Models.

Autor: Li C; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington., Course MM; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington., McNeish IA; Imperial College, London, United Kingdom., Drescher CW; Fred Hutchinson Cancer Research Center, Seattle, Washington., Valdmanis PN; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington., Lieber A; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington. lieber00@uw.edu.; Department of Pathology, University of Washington, Seattle, Washington.

Publikováno v: Cancer research [Cancer Res] 2020 Feb 01; Vol. 80 (3), pp. 549-560. Date of Electronic Publication: 2019 Nov 14.

Alternative splicing in a presenilin 2 variant associated with Alzheimer disease.

Autor: Braggin JE; Department of Neurology University of Washington Seattle Washington., Bucks SA; Department of Neurology University of Washington Seattle Washington., Course MM; Division of Medical Genetics Department of Medicine University of Washington Seattle Washington., Smith CL; Department of Neurology University of Washington Seattle Washington., Sopher B; Department of Neurology University of Washington Seattle Washington., Osnis L; Department of Neurology University of Washington Seattle Washington., Shuey KD; Department of Neurology University of Washington Seattle Washington., Domoto-Reilly K; Department of Neurology University of Washington Seattle Washington., Caso C; Department of Neurology University of Washington Seattle Washington., Kinoshita C; Department of Neurological Surgery University of Washington Seattle Washington., Scherpelz KP; Department of Pathology University of Washington Seattle Washington., Cross C; School of Medicine University of Utah Salt Lake City Utah., Grabowski T; Department of Neurology University of Washington Seattle Washington.; Department of Radiology University of Washington Seattle Washington., Nik SHM; Genetics and Evolution University of Adelaide Adelaide South Australia., Newman M; Genetics and Evolution University of Adelaide Adelaide South Australia., Garden GA; Department of Neurology University of Washington Seattle Washington.; Department of Pathology University of Washington Seattle Washington., Leverenz JB; Cleveland Lou Ruvo Center for Brain Health Cleveland OH., Tsuang D; Department of Neurology University of Washington Seattle Washington.; Division of Medical Genetics Department of Medicine University of Washington Seattle Washington.; Department of Psychiatry & Behavioral Sciences University of Washington Seattle Washington.; Geriatric Research, Education, and Clinical Center VA Puget Sound Health Care System Seattle Washington., Latimer C; Department of Pathology University of Washington Seattle Washington., Gonzalez-Cuyar LF; Department of Pathology University of Washington Seattle Washington., Keene CD; Department of Pathology University of Washington Seattle Washington., Morrison RS; Department of Neurological Surgery University of Washington Seattle Washington., Rhoads K; Department of Neurology University of Washington Seattle Washington., Wijsman EM; Division of Medical Genetics Department of Medicine University of Washington Seattle Washington.; Univeristy of Washington Department of Biostatistics Seattle Washington., Dorschner MO; Department of Pathology University of Washington Seattle Washington.; Department of Psychiatry & Behavioral Sciences University of Washington Seattle Washington.; UW Medicine Center for Precision Diagnostics University of Washington Seattle Washington., Lardelli M; Genetics and Evolution University of Adelaide Adelaide South Australia., Young JE; Department of Pathology University of Washington Seattle Washington., Valdmanis PN; Division of Medical Genetics Department of Medicine University of Washington Seattle Washington., Bird TD; Department of Neurology University of Washington Seattle Washington.; Division of Medical Genetics Department of Medicine University of Washington Seattle Washington.; Geriatric Research, Education, and Clinical Center VA Puget Sound Health Care System Seattle Washington., Jayadev S; Department of Neurology University of Washington Seattle Washington.; Division of Medical Genetics Department of Medicine University of Washington Seattle Washington.

Publikováno v: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2019 Mar 10; Vol. 6 (4), pp. 762-777. Date of Electronic Publication: 2019 Mar 10 (Print Publication: 2019).

Live Imaging Mitochondrial Transport in Neurons.

Autor: Course MM; Department of Neurosurgery, Stanford University School of Medicine, Stanford, USA, Hsieh CH; Department of Neurosurgery, Stanford University School of Medicine, Stanford, USA, Tsai PI; Department of Neurosurgery, Stanford University School of Medicine, Stanford, USA, Codding-Bui JA; Department of Neurosurgery, Stanford University School of Medicine, Stanford, USA, Shaltouki A; Department of Neurosurgery, Stanford University School of Medicine, Stanford, USA, Wang X; Department of Neurosurgery, Stanford University School of Medicine, Stanford, USA

Publikováno v: Neuromethods [Neuromethods] 2017; Vol. 123, pp. 49-66. Date of Electronic Publication: 2017 Mar 18.