نتائج البحث - "Rupleen Kaur"

المصدر: Bolduc, V, Minor, K M, Hu, Y, Kaur, R, Friedenberg, S G, Van Buren, S, Guo, L T, Glennon, J C, Marioni-Henry, K, Mickelson, J R, Bönnemann, C G & Shelton, G D 2020, ' Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs ', Neuromuscular Disorders . https://doi.org/10.1016/j.nmd.2020.03.005Test
Neuromuscul Disord
Neuromuscular disorders : NMD, vol 30, iss 5

مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, Myopathy, Medical Physiology, Muscular Dystrophies, Canine, 0302 clinical medicine, Collagen VI, 2.1 Biological and endogenous factors, Joint Contracture, Muscular Dystrophy, Aetiology, Genetics (clinical), Pediatric, Bethlem myopathy, Pedigree, Neurology, Congenital muscular dystrophy, Muscle, Female, medicine.symptom, musculoskeletal diseases, medicine.medical_specialty, Ullrich congenital muscular dystrophy, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, Collagen Type VI, Article, 03 medical and health sciences, Rare Diseases, Dogs, medicine, Animals, Neurology & Neurosurgery, Whole Genome Sequencing, business.industry, Neurosciences, medicine.disease, Brain Disorders, 030104 developmental biology, Musculoskeletal, Pediatrics, Perinatology and Child Health, Labrador Retriever, Neurology (clinical), Contracture, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7748580a3e84ca0d7e584f31528344eaTest
https://hdl.handle.net/20.500.11820/88a17405-d60d-467d-a0d5-a5893725a50fTest

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MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

المؤلفون: David Mowat, Sandra Donkervoort, Dimah Saade, Timothy E. Shutt, R. Hanson, Volker Straub, J.S. Parboosingh, Alessandra Carnevale, Francois P. Bernier, Pomi Yun, Rupleen Kaur, Beryl B. Cummings, I. Al Khatib, Carol J Saunders, Amy Harper, Peter I. Karachunski, Laurence Gauquelin, Leigh B. Waddell, Michelle A. Farrar, A.M. Innes, Rasha Sabouny, Asif Javed, Isabelle Thiffault, Ana Töpf, Sophelia H. S. Chan, Steven A. Moore, Katherine R. Chao, Nanna Witting, M. Leach, Jean K. Mah, C. Thompson, Rhonda E. Schnur, Joline C. Dalton, Carsten G. Bönnemann, Julia K. Goodrich, Keith A. Coffman, Prech Uapinyoying, Ryan E. Lamont, Sabine Specht, L. Medne, Grace Yoon, A. Reghan Foley, Kym M. Boycott, Payam Mohassel, John Vissing, Hilary E. Racher, Ying Hu, M. Hainlen

المصدر: Care4Rare Canada Consortium 2019, ' MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement ', Acta Neuropathologica, vol. 138, no. 6, pp. 1013-1031 . https://doi.org/10.1007/s00401-019-02059-zTest
Acta Neuropathologica

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Mitochondrial DNA, Mitochondrial Diseases, Adolescent, DNA Copy Number Variations, Cell Cycle Proteins, Disease, Biology, DNA, Mitochondrial, Muscular Dystrophies, Pathology and Forensic Medicine, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Cerebellar Diseases, MSTO1, Mitochondrial fusion, medicine, Humans, MtDNA depletion, Muscular dystrophy, Child, Cells, Cultured, Loss function, Genetics, Original Paper, Cerebellar ataxia, Muscles, Fibroblasts, Middle Aged, medicine.disease, Phenotype, 3. Good health, Cytoskeletal Proteins, 030104 developmental biology, mitochondrial fusion, Cerebellar atrophy, Mutation, Female, Neurology (clinical), Atrophy, medicine.symptom, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd4dcb898e43a5a52e65551664c6d248Test
https://curis.ku.dk/portal/da/publications/msto1-mutations-cause-mtdna-depletion-manifesting-as-muscular-dystrophy-with-cerebellar-involvementTest(e62e468c-64e0-48f8-b30c-3ccddf0547bb).html

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Abstract 2137: Differential gene expression identifies a transcriptional regulatory network involving ESR1and PITX1 in invasive epithelial ovarian cancer

المؤلفون: Valer Gotea, Xiaoyu Liang, Yichao Li, Elnitski Laura, Lonnie R. Welch, Sushil Kumar Jaiswal, Rupleen Kaur, Julie A. DeLoia, Hanna M. Petrykowska, Dana Alsaadi, Thomas C. Krivak, Frank Drews

المصدر: Cancer Research. 81:2137-2137

مصطلحات موضوعية: Cancer Research, Oncology, Gene expression, Cancer research, Epithelial ovarian cancer, Biology, Differential (mathematics)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3ce3c2e37daf000ffd344a8988f27e2cTest
https://doi.org/10.1158/1538-7445.am2021-2137Test

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CMT AND NEUROGENIC DISEASE

المؤلفون: Rupleen Kaur, M. Fink, M. Waite, Carmel Nichols, Tanya J. Lehky, Dimah Saade, Ying Hu, Ruhi Vasavada, M. Jain, Gina Norato, S. Debs, S. Neuhaus, S. Gray, Diana Bharucha-Goebel, A. Foley, Sandra Donkervoort

المصدر: Neuromuscular Disorders. 28:S132

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), Disease, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0a31dcc268040f872f43bae6458be20aTest
https://doi.org/10.1016/j.nmd.2018.06.385Test

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