المؤلفون: Khan, Aneal, Barber, Dwayne L., McKillop, William M., Rupar, C. Anthony, Auray‐Blais, Christiane, Fraser, Graeme, Fowler, Daniel H., Berger, Alexandra, Foley, Ronan, Keating, Armand, West, Michael L., Medin, Jeffrey A.

المساهمون: Canadian Institutes of Health Research, Midwest Athletes Against Childhood Cancer

المصدر: Clinical and Translational Medicine ; volume 15, issue 1 ; ISSN 2001-1326 2001-1326

الاتاحة: https://doi.org/10.1002/ctm2.70073
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ctm2.70073

المؤلفون: Yang, Jennifer H, Friederich, Marisa W, Ellsworth, Katarzyna A, Frederick, Aliya, Foreman, Emily, Malicki, Denise, Dimmock, David, Lenberg, Jerica, Prasad, Chitra, Yu, Andrea C, Rupar, C Anthony, Hegele, Robert A, Manickam, Kandamurugu, Koboldt, Daniel C, Crist, Erin, Choi, Samantha S, Farhan, Sali MK, Harvey, Helen, Sattar, Shifteh, Karp, Natalya, Wong, Terence, Haas, Richard, Van Hove, Johan LK, Wigby, Kristen

المصدر: Human Mutation. 43(3)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, Pediatric, Genetics, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Carbon-Sulfur Lyases, Electron Transport Complex I, Humans, Iron, Iron-Sulfur Proteins, Mitochondria, Mitochondrial Proteins, Sulfur, Young Adult, iron-sulfur clusteropathies, lactic acidosis, mitochondrial, NFS1, pediatric, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/68j1p63k
https://escholarship.org/content/qt68j1p63k/qt68j1p63k.pdf

المؤلفون: Almudhry, Montaha, Prasad, Chitra, Rupar, C. Anthony, Tay, Keng Yeow, Prasad, Asuri N.

المصدر: Frontiers in Neurology ; volume 15 ; ISSN 1664-2295

الاتاحة: http://dx.doi.org/10.3389/fneur.2024.1204848
https://www.frontiersin.org/articles/10.3389/fneur.2024.1204848/full

المؤلفون: Almudhry, Montaha, Prasad, Asuri N., Rupar, C. Anthony, Tay, Keng Yeow, Ratko, Suzanne, Jenkins, Mary E., Prasad, Chitra

المصدر: Frontiers in Neurology ; volume 14 ; ISSN 1664-2295

الاتاحة: http://dx.doi.org/10.3389/fneur.2023.1214137
https://www.frontiersin.org/articles/10.3389/fneur.2023.1214137/full

المؤلفون: Almudhry, Montaha, Saini, Arushi Gahlot, Al-Omari, Mohammed A., Sharma, Yashu, Nouri, Maryam Nabavi, Rupar, C. Anthony, Prasad, Chitra, Yu, Andrea C., Attri, Savita Verma, Prasad, Asuri Narayan

المصدر: Frontiers in Neurology ; volume 14 ; ISSN 1664-2295

الاتاحة: http://dx.doi.org/10.3389/fneur.2023.1265115
https://www.frontiersin.org/articles/10.3389/fneur.2023.1265115/full

المؤلفون: Saleh, Amr H., Rothe, Michael, Barber, Dwayne L., McKillop, William M., Fraser, Graeme, Morel, Chantal F., Schambach, Axel, Auray-Blais, Christiane, West, Michael L., Khan, Aneal, Fowler, Daniel H., Rupar, C. Anthony, Foley, Ronan, Medin, Jeffrey A., Keating, Armand

المساهمون: Canadian Institutes of Health Research, Kidney Foundation of Canada, MACC Fund

المصدر: Molecular Therapy - Methods & Clinical Development ; volume 28, page 262-271 ; ISSN 2329-0501

الاتاحة: http://dx.doi.org/10.1016/j.omtm.2023.01.003
https://api.elsevier.com/content/article/PII:S2329050123000050?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2329050123000050?httpAccept=text/plain

المؤلفون: Howie, Alison H., Tingley, Kylie, Inbar-Feigenberg, Michal, Mitchell, John J., Angel, Kim, Gentle, Jenifer, Smith, Maureen, Offringa, Martin, Butcher, Nancy J., Campeau, Philippe M., Chakraborty, Pranesh, Chan, Alicia, Fergusson, Dean, Mamak, Eva, McClelland, Peyton, Mercimek-Andrews, Saadet, Mhanni, Aizeddin, Moazin, Zeinab, Rockman-Greenberg, Cheryl, Rupar, C. Anthony

المصدر: Orphanet Journal of Rare Diseases; 10/23/2024, Vol. 19 Issue 1, p1-15, 15p

مصطلحات موضوعية: DATABASE searching, CONSENSUS (Social sciences), DRUG side effects, DATABASES, CLINICAL trials

المؤلفون: Nagree, Murtaza S, Felizardo, Tania C, Faber, Mary L, Rybova, Jitka, Rupar, C Anthony, Foley, S Ronan, Fuller, Maria, Fowler, Daniel H, Medin, Jeffrey A

المساهمون: Midwest Athletes Against Childhood Cancer

المصدر: EMBO Molecular Medicine ; volume 14, issue 4 ; ISSN 1757-4676 1757-4684

الاتاحة: http://dx.doi.org/10.15252/emmm.202114297
https://onlinelibrary.wiley.com/doi/pdf/10.15252/emmm.202114297
https://onlinelibrary.wiley.com/doi/full-xml/10.15252/emmm.202114297
https://www.embopress.org/doi/pdf/10.15252/emmm.202114297

المؤلفون: Spagnolo, Paolo, Tweddell, David, Cela, Enis, Daley, Mark, Clarson, Cheril, Rupar, C Anthony, Stranges, Saverio, Bravo, Michael, Cepinskas, Gediminas, Fraser, Douglas D

المصدر: Mol Med ; ISSN:1528-3658 ; Volume:30 ; Issue:1

مصطلحات موضوعية: Diabetic ketoacidosis, Metabolites, Metabolomics, Panels, Pathways, Pediatric

Relation: https://doi.org/10.1186/s10020-024-01046-9; https://pubmed.ncbi.nlm.nih.gov/39707182; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11660668/

الاتاحة: https://doi.org/10.1186/s10020-024-01046-9
https://pubmed.ncbi.nlm.nih.gov/39707182
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11660668/

المؤلفون: Hang, Shyann, Prasad, Chitra, Rupar, C. Anthony, Agnihotri, Richa, Prasad, Asuri N.

المصدر: Journal of Pediatric Neurology ; ISSN 1304-2580 1875-9041

الاتاحة: http://dx.doi.org/10.1055/s-0043-1778116
http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0043-1778116.pdf

المؤلفون: Auray-Blais, Christiane, Lavoie, Pamela, Martineau, Tristan, Rupar, C. Anthony, Barber, Dwayne L., Keating, Armand, Foley, Ronan, Khan, Aneal, West, Michael L., Medin, Jeffrey A.

المصدر: Rare Disease and Orphan Drugs Journal ; volume 3, issue 3 ; ISSN 2771-2893

الاتاحة: http://dx.doi.org/10.20517/rdodj.2024.14
https://www.oaepublish.com/articles/rdodj.2024.14

المؤلفون: Khan, Aneal, Barber, Dwayne L., Huang, Ju, Rupar, C. Anthony, Rip, Jack W., Auray-Blais, Christiane, Boutin, Michel, O’Hoski, Pamela, Gargulak, Kristy, McKillop, William M., Fraser, Graeme, Wasim, Syed, LeMoine, Kaye, Jelinski, Shelly, Chaudhry, Ahsan, Prokopishyn, Nicole, Morel, Chantal F., Couban, Stephen, Duggan, Peter R., Fowler, Daniel H., Keating, Armand, West, Michael L., Foley, Ronan, Medin, Jeffrey A.

المساهمون: Gouvernement du Canada | Canadian Institutes of Health Research, Midwest Athletes Against Childhood Cancer (MACC) Fund AVROBIO, Inc.

المصدر: Nature Communications ; volume 12, issue 1 ; ISSN 2041-1723

الاتاحة: http://dx.doi.org/10.1038/s41467-021-21371-5
https://www.nature.com/articles/s41467-021-21371-5.pdf
https://www.nature.com/articles/s41467-021-21371-5

المؤلفون: Barootes, Hailey C., Prasad, Chitra, Rupar, C. Anthony, Ashok, Dhandapani

المصدر: Clinical Pediatrics ; volume 61, issue 1, page 81-85 ; ISSN 0009-9228 1938-2707

الاتاحة: https://doi.org/10.1177/00099228211059668
https://journals.sagepub.com/doi/pdf/10.1177/00099228211059668
https://journals.sagepub.com/doi/full-xml/10.1177/00099228211059668

المؤلفون: Silveira, C. R.A., MacKinley, J., Coleman, K., Li, Z., Finger, E., Bartha, R., Morrow, S. A., Wells, J., Borrie, M., Tirona, R. G., Rupar, C. A., Zou, G., Hegele, R. A., Mahuran, D., MacDonald, Penny A., Jenkins, M. E., Jog, M., Pasternak, S. H.

المصدر: Medical Biophysics Publications

مصطلحات موضوعية: Ambroxol, Cognition, Glucocerebrosidase, Parkinson's disease dementia, α-Synuclein, Medical Biophysics

وصف الملف: application/pdf

Relation: https://ir.lib.uwo.ca/biophysicspub/405; https://ir.lib.uwo.ca/context/biophysicspub/article/1405/viewcontent/s12883_019_1252_3.pdf

الاتاحة: https://ir.lib.uwo.ca/biophysicspub/405
https://doi.org/10.1186/s12883-019-1252-3
https://ir.lib.uwo.ca/context/biophysicspub/article/1405/viewcontent/s12883_019_1252_3.pdf

المؤلفون: Tao, Jessica, Rupar, C. Anthony, Miller, Michael R., Ratko, Suzanne, Prasad, Chitra

المساهمون: Children's Foundation

المصدر: JIMD Reports ; volume 51, issue 1, page 105-112 ; ISSN 2192-8312 2192-8312

الاتاحة: http://dx.doi.org/10.1002/jmd2.12089
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fjmd2.12089
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12089
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/jmd2.12089

المؤلفون: Le, Christine, Prasad, Asuri N., Rupar, C. Anthony, Debicki, Derek, Andrade, Andrea, Prasad, Chitra

المصدر: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ; volume 46, issue 04, page 459-463 ; ISSN 0317-1671 2057-0155

الاتاحة: http://dx.doi.org/10.1017/cjn.2019.35
https://www.cambridge.org/core/services/aop-cambridge-core/content/view/S0317167119000350

المؤلفون: Ibrahim, Judy, Ratko, Suzanne, Napier, Melanie, Karp, Natalya, Anthony Rupar, C, Prasad, Chitra

المصدر: British Inherited Metabolic Disease Group ; page A200.2-A201

الاتاحة: http://dx.doi.org/10.1136/archdischild-2022-rcpch.321
https://syndication.highwire.org/content/doi/10.1136/archdischild-2022-rcpch.321

المؤلفون: Farhan, Sali M K, Nixon, Kevin C J, Everest, Michelle, Edwards, Tara N, Long, Shirley, Segal, Dmitri, Knip, Maria J, Arts, Heleen H, Chakrabarti, Rana, Wang, Jian, Robinson, John F, Lee, Donald, Mirsattari, Seyed M, Rupar, C Anthony, Siu, Victoria M, Poulter, Michael O, Hegele, Robert A, Kramer, Jamie M

المصدر: Human Molecular Genetics ; volume 26, issue 21, page 4278-4289 ; ISSN 0964-6906 1460-2083

الاتاحة: http://dx.doi.org/10.1093/hmg/ddx316
http://academic.oup.com/hmg/article-pdf/26/21/4278/24339610/ddx316.pdf

المؤلفون: Huang, Ju, Khan, Aneal, Au, Bryan C., Barber, Dwayne L., López-Vásquez, Lucía, Prokopishyn, Nicole L., Boutin, Michel, Rothe, Michael, Rip, Jack W., Abaoui, Mona, Nagree, Murtaza S., Dworski, Shaalee, Schambach, Axel, Keating, Armand, West, Michael L., Klassen, John, Turner, Patricia V., Sirrs, Sandra, Rupar, C. Anthony, Auray-Blais, Christiane, Foley, Ronan, Medin, Jeffrey A.

المساهمون: The Canadian Institutes of Health Research, Kidney Foundation of Canada, University of Calgary Cumming School of Medicine, Alberta Health Services

المصدر: Molecular Therapy - Methods & Clinical Development ; volume 5, page 241-258 ; ISSN 2329-0501

الاتاحة: http://dx.doi.org/10.1016/j.omtm.2017.05.003
https://api.elsevier.com/content/article/PII:S2329050117300682?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2329050117300682?httpAccept=text/plain

المؤلفون: Kerkhof, Jennifer, Schenkel, Laila C., Reilly, Jack, McRobbie, Sheri, Aref-Eshghi, Erfan, Stuart, Alan, Rupar, C. Anthony, Adams, Paul, Hegele, Robert A., Lin, Hanxin, Rodenhiser, David, Knoll, Joan, Ainsworth, Peter J., Sadikovic, Bekim

المصدر: The Journal of Molecular Diagnostics ; volume 19, issue 6, page 905-920 ; ISSN 1525-1578

الاتاحة: http://dx.doi.org/10.1016/j.jmoldx.2017.07.004
https://api.elsevier.com/content/article/PII:S1525157817302076?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1525157817302076?httpAccept=text/plain