- Tytuł:
- An Autopsy Series of Seven Cases of VPS13A Disease (Chorea-Acanthocytosis).
- Autorzy:
-
Ditzel RM Jr; Department of Pathology, Molecular, and Cell Based Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Artificial Intelligence & Human Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Friedman Brain Institute, Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Neuropathology Brain Bank & Research CoRE, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Walker RH; Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; James J. Peters Veterans Affairs Medical Center, Bronx, New York, USA.
Nirenberg MJ; Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; James J. Peters Veterans Affairs Medical Center, Bronx, New York, USA.
Tetlow AM; Department of Pathology, Molecular, and Cell Based Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Artificial Intelligence & Human Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Friedman Brain Institute, Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Neuropathology Brain Bank & Research CoRE, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Farrell K; Department of Pathology, Molecular, and Cell Based Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Artificial Intelligence & Human Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Friedman Brain Institute, Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Neuropathology Brain Bank & Research CoRE, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Lind-Watson KJ; Department of Pathology, Molecular, and Cell Based Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Artificial Intelligence & Human Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Friedman Brain Institute, Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Neuropathology Brain Bank & Research CoRE, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Thorn EL; Department of Pathology, Molecular, and Cell Based Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Artificial Intelligence & Human Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Friedman Brain Institute, Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Neuropathology Brain Bank & Research CoRE, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Dangoor DK; Department of Pathology, Molecular, and Cell Based Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Artificial Intelligence & Human Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Friedman Brain Institute, Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Neuropathology Brain Bank & Research CoRE, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Gordon R; Department of Pathology, Molecular, and Cell Based Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
De Sanctis C; Department of Pathology, Molecular, and Cell Based Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Artificial Intelligence & Human Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Friedman Brain Institute, Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Neuropathology Brain Bank & Research CoRE, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Barton B; Rush University Medical Center, Chicago, Illinois, USA.; Jesse Brown Veterans Affairs Medical Center, Chicago, Illinois, USA.
Karp BI; Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Kirby A; Jesse Brown Veterans Affairs Medical Center, Chicago, Illinois, USA.
Lett DJ; Newcastle Brain Tissue Resource, Newcastle University, Newcastle, United Kingdom.
Mente K; Departments of Neurology and Pathology, Case Western Reserve University, Cleveland, Ohio, USA.; Louis Stokes Cleveland VA Medical Center, Cleveland, Ohio, USA.
Simon DK; Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA.
Velayos-Baeza A; Department of Physiology, Anatomy, and Genetics, University of Oxford, Oxford, United Kingdom.; Wellcome Centre for Human Genetics, University of Oxford, Oxford, United Kingdom.
Miltenberger-Miltenyi G; Laboratório de Genética, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal.; Department of Neurology, Ludwig-Maximilians-Universität München, Munich, Germany.; Reference Center on Lysosomal Storage Diseases, Hospital Senhora da Oliveira, Guimarães, Portugal.; Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina da Universidade de Lisboa, Lisbon, Portugal.
Humphrey J; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Friedman Brain Institute, Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Neurology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Genetics and Genomic Sciences & Icahn Institute for Data Science and Genomic Technology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Crary JF; Department of Pathology, Molecular, and Cell Based Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Artificial Intelligence & Human Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Friedman Brain Institute, Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Neuropathology Brain Bank & Research CoRE, Icahn School of Medicine at Mount Sinai, New York, New York, USA. - Pokaż więcej
- Źródło:
- Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2023 Dec; Vol. 38 (12), pp. 2163-2172. Date of Electronic Publication: 2023 Sep 05.
- Typ publikacji:
- Case Reports; Journal Article
- MeSH Terms:
-
Neuroacanthocytosis*/genetics
Neuroacanthocytosis*/diagnosis
Neuroacanthocytosis*/pathology
Humans ; Autopsy ; Caudate Nucleus/metabolism ; Gliosis ; Lipids ; Vesicular Transport Proteins/genetics
Czasopismo naukowe
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