Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Christopher Yanick"'
Autor:
Christopher Yanick, Renata Maciel, Elizabeth Jacobs, Jacquelyn Schatzman, Michael Shy, Stephan Zuchner, Mario Saporta
Publikováno v:
Stem Cell Research, Vol 78, Iss , Pp 103449- (2024)
The SORD neuropathy has been identified as the most common autosomal recessive inherited neuropathy, occurring in thousands of patients worldwide. Fibroblast lines from 3 different patients containing the c.753delG; p.Ala253GlnfsTer27 SORD mutations
Externí odkaz:
https://doaj.org/article/5cd87e9e703840e8bb66cda7b01acc95
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 17 (2023)
Schwann cells (SCs) have a critical role in the peripheral nervous system. These cells are able to support axons during homeostasis and after injury. However, mutations in genes associated with the SCs repair program or myelination result in dysfunct
Externí odkaz:
https://doaj.org/article/744188c911fb42019718e215196981c9
Autor:
Yi Zhu, Amanda G. Lobato, Adriana P. Rebelo, Tijana Canic, Natalie Ortiz-Vega, Xianzun Tao, Sheyum Syed, Christopher Yanick, Mario Saporta, Michael Shy, Riccardo Perfetti, Shoshana Shendelman, Stephan Züchner, R. Grace Zhai
Publikováno v:
JCI Insight, Vol 8, Iss 10 (2023)
Sorbitol dehydrogenase (SORD) deficiency has been identified as the most frequent autosomal recessive form of hereditary neuropathy. Loss of SORD causes high sorbitol levels in tissues due to the inability to convert sorbitol to fructose in the 2-ste
Externí odkaz:
https://doaj.org/article/4657417178b445e989e14adc2d9805e9
Autor:
Ibolya E. András, Marta Garcia-Contreras, Christopher Yanick, Paola Perez, Brice Sewell, Leonardo Durand, Michal Toborek
Publikováno v:
Molecular Brain, Vol 13, Iss 1, Pp 1-17 (2020)
Abstract Amyloid beta (Aβ) deposition was demonstrated to be elevated in the brains of HIV-infected patients and associated with neurocognitive decline; however, the mechanisms of these processes are poorly understood. The goal of the current study
Externí odkaz:
https://doaj.org/article/221a910839f541adaeddf38b9d898206
Autor:
David, Pellerin, Matt C, Danzi, Carlo, Wilke, Mathilde, Renaud, Sarah, Fazal, Marie-Josée, Dicaire, Carolin K, Scriba, Catherine, Ashton, Christopher, Yanick, Danique, Beijer, Adriana, Rebelo, Clarissa, Rocca, Zane, Jaunmuktane, Joshua A, Sonnen, Roxanne, Larivière, David, Genís, Laura, Molina Porcel, Karine, Choquet, Rawan, Sakalla, Sylvie, Provost, Rebecca, Robertson, Xavier, Allard-Chamard, Martine, Tétreault, Sarah J, Reiling, Sara, Nagy, Vikas, Nishadham, Meera, Purushottam, Seena, Vengalil, Mainak, Bardhan, Atchayaram, Nalini, Zhongbo, Chen, Jean, Mathieu, Rami, Massie, Colin H, Chalk, Anne-Louise, Lafontaine, François, Evoy, Marie-France, Rioux, Jiannis, Ragoussis, Kym M, Boycott, Marie-Pierre, Dubé, Antoine, Duquette, Henry, Houlden, Gianina, Ravenscroft, Nigel G, Laing, Phillipa J, Lamont, Mario A, Saporta, Rebecca, Schüle, Ludger, Schöls, Roberta, La Piana, Matthis, Synofzik, Stephan, Zuchner, Bernard, Brais
Publikováno v:
The New England journal of medicine.
The late-onset cerebellar ataxias (LOCAs) have largely resisted molecular diagnosis.We sequenced the genomes of six persons with autosomal dominant LOCA who were members of three French Canadian families and identified a candidate pathogenic repeat e
Autor:
David Pellerin, Matt C. Danzi, Carlo Wilke, Mathilde Renaud, Sarah Fazal, Marie-Josée Dicaire, Carolin K. Scriba, Catherine Ashton, Christopher Yanick, Danique Beijer, Adriana Rebelo, Clarissa Rocca, Zane Jaunmuktane, Joshua A. Sonnen, Roxanne Larivière, David Genís, Laura Molina Porcel, Karine Choquet, Rawan Sakalla, Sylvie Provost, Rebecca Robertson, Xavier Allard-Chamard, Martine Tétreault, Sarah J. Reiling, Sara Nagy, Vikas Nishadham, Meera Purushottam, Seena Vengalil, Mainak Bardhan, Atchayaram Nalini, Zhongbo Chen, Jean Mathieu, Rami Massie, Colin H. Chalk, Anne-Louise Lafontaine, François Evoy, Marie-France Rioux, Jiannis Ragoussis, Kym M. Boycott, Marie-Pierre Dubé, Antoine Duquette, Henry Houlden, Gianina Ravenscroft, Nigel G. Laing, Phillipa J. Lamont, Mario A. Saporta, Rebecca Schüle, Ludger Schöls, Roberta La Piana, Matthis Synofzik, Stephan Zuchner, Bernard Brais
Publikováno v:
The New England journal of medicine 388, 128-141 (2022). doi:10.1056/NEJMoa2207406
The late-onset cerebellar ataxias (LOCAs) have largely resisted molecular diagnosis.We sequenced the genomes of six persons with autosomal dominant LOCA who were members of three French Canadian families and identified a candidate pathogenic repeat e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16d4407d5e825b4fbd8d0cfb4927a7a1
https://pub.dzne.de/record/169165
https://pub.dzne.de/record/169165
Autor:
Leonardo Durand, Ibolya E. András, Brice B. Sewell, Christopher Yanick, Marta Garcia-Contreras, Paola Perez, Michal Toborek
Publikováno v:
Molecular Brain, Vol 13, Iss 1, Pp 1-17 (2020)
Molecular Brain
Molecular Brain
Amyloid beta (Aβ) deposition was demonstrated to be elevated in the brains of HIV-infected patients and associated with neurocognitive decline; however, the mechanisms of these processes are poorly understood. The goal of the current study was to ad
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8a385f99eb8cee31c8f30c15c9817b0
https://doi.org/10.21203/rs.2.17417/v1
https://doi.org/10.21203/rs.2.17417/v1