Zobrazeno 1 - 10
of 67
pro vyhledávání: '"Guy Helman"'
Autor:
Emma M. J. Passchier, Quinty Bisseling, Guy Helman, Rosalina M. L. van Spaendonk, Cas Simons, René C. L. Olsthoorn, Hieke van der Veen, Truus E. M. Abbink, Marjo S. van der Knaap, Rogier Min
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
The leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by infantile-onset macrocephaly and chronic edema of the brain white matter. With delayed onset, patients typically experience motor problems, epilep
Externí odkaz:
https://doaj.org/article/5d8759cb088045a8823df2ec24ddd0cb
Autor:
Lindsey Van Haute, Emily O’Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella H. Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J. Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli Nandeesh, Catarina Olimpio, Christopher A. Powell, Veeramani Preethish-Kumar, Vincent Procaccio, Rocio Rius, Pedro Rebelo-Guiomar, Cas Simons, Seena Vengalil, Maha S. Zaki, Alban Ziegler, David R. Thorburn, David A. Stroud, Reza Maroofian, John Christodoulou, Claes Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horvath
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-21 (2023)
Van Haute et al describe autosomal recessive TEFM variants that impair mitochondrial transcription elongation and reduce the levels of promoter distal mitochondrial RNA transcripts, leading to heterogeneous mitochondrial diseases with a treatable neu
Externí odkaz:
https://doaj.org/article/cd5cc9ecdd2c4821a6750da1e26f46ce
Autor:
Brianna Disanza, Rajesh Angireddy, Emma Welter, Guy Helman, Cas Simons, Ryan Taft, Adeline Vanderver, Elizabeth Bhoj, Rebecca Ahrens-Nicklas
Publikováno v:
IBRO Neuroscience Reports, Vol 15, Iss , Pp S86-S87 (2023)
Externí odkaz:
https://doaj.org/article/5e56b2b000e544b3a6bb059e9d96f924
Autor:
Kaiyuan Wu, Asako Takanohashi, Sarah Woidill, Allen Seylani, Guy Helman, Patricia Dias, Jeanette Beers, Yongshun Lin, Cas Simons, Ernst Wolvetang, Jizhong Zou, Adeline Vanderver, Michael N. Sack
Publikováno v:
Stem Cell Research, Vol 64, Iss , Pp 102905- (2022)
Genetic studies show that BLOC1S1 modulates mitochondrial and endosome-lysosome function (Wu et al., 2021a). Furthermore, Bloc1s1 mutations are linked to leukodystrophy (Bertoli-Avella et al., 2021). The Vanderver laboratory identified additional ind
Externí odkaz:
https://doaj.org/article/32127ec9fd3440ed9724b16e1c65360d
Autor:
Guy Helman, Bryan R. Lajoie, Joanna Crawford, Asako Takanohashi, Marzena Walkiewicz, Egor Dolzhenko, Andrew M. Gross, Vladimir G. Gainullin, Stephen J. Bent, Emma M. Jenkinson, Sacha Ferdinandusse, Hans R. Waterham, Imen Dorboz, Enrico Bertini, Noriko Miyake, Nicole I. Wolf, Truus E. M. Abbink, Susan M. Kirwin, Christina M. Tan, Grace M. Hobson, Long Guo, Shiro Ikegawa, Amy Pizzino, Johanna L. Schmidt, Genevieve Bernard, Raphael Schiffmann, Marjo S. van derKnaap, Cas Simons, Ryan J. Taft, Adeline Vanderver
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 1, Pp 144-152 (2020)
Abstract Genetic white matter disorders have heterogeneous etiologies and overlapping clinical presentations. We performed a study of the diagnostic efficacy of genome sequencing in 41 unsolved cases with prior exome sequencing, resolving an addition
Externí odkaz:
https://doaj.org/article/b313ae0552894ab4b545c7fc6b8eee71
Autor:
Ileana Pacheco-Colón, Stuart D Washington, Courtney Sprouse, Guy Helman, Andrea L Gropman, John W VanMeter
Publikováno v:
PLoS ONE, Vol 10, Iss 6, p e0129595 (2015)
Ornithine transcarbamylase deficiency (OTCD) is an X-chromosome linked urea cycle disorder (UCD) that causes hyperammonemic episodes leading to white matter injury and impairments in executive functioning, working memory, and motor planning. This stu
Externí odkaz:
https://doaj.org/article/a98343ea51074e1a88f198280549e3c7
Autor:
Asako, Takanohashi, Mohamad-Gabriel, Alameh, Sarah, Woidill, Julia, Hacker, Benjamin, Davis, Guy, Helman, Francesco, Gavazzi, Laura, Adang, Russell, D'Aiello, Patrick, Winters, Devon, Cordova, Taibeen, Khandaker, Houping, Ni, Ying, Tam, Paulo, Lin, Drew, Weissman, Justine, Shults, Adeline, Vanderver
Publikováno v:
Molecular Genetics and Metabolism. 137:320-327
Aicardi Goutières Syndrome (AGS) is an autoinflammatory disorder resulting in sustained interferon activation through defects in nucleic acid modification and sensing pathways. Thus, mRNA-based vaccination used against SARS-CoV-2, raise disease-spec
Autor:
Simon Sadedin, Alison Yeung, Natasha J Brown, David S. Francis, Katrina M. Bell, David R. Thorburn, Lyndon Gallacher, Justine Elliott, Michelle G. de Silva, Alysia Lovgren, Lilian Downie, Anne H. O’Donnell-Luria, Chloe A Stutterd, Sze Chern Lim, George McGillivray, Martin B. Delatycki, Zornitza Stark, Thomas Cloney, John Christodoulou, Tiong Yang Tan, Susan M. White, Lynn Pais, Cas Simons, Daniel G. MacArthur, Ralph Oertel, Alison G. Compton, Guy Helman, Natalie B Tan
Publikováno v:
J Med Genet
BackgroundClinical exome sequencing typically achieves diagnostic yields of 30%–57.5% in individuals with monogenic rare diseases. Undiagnosed diseases programmes implement strategies to improve diagnostic outcomes for these individuals.AimWe share
Autor:
Asako Takanohashi, Mohamad-Gabriel Alameh, Sarah Woidill, Julia Hacker, Benjamin Davis, Guy Helman, Francesco Gavazzi, Laura Adang, Russell D’Aiello, Patrick Winters, Devon Cordova, Taibeen Khandaker, Houping Ni, Ying Tam, Paulo Lin, Drew Weissman, Justine Shults, Adeline Vanderver
The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) poses threats to individuals with rare disease, in part because so little is known about the impact of COVID-19 infection and vaccination safety in rare disease populations. Of particul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d6a0c52639cf7adb03b8f74f157fb4be
https://doi.org/10.1101/2022.05.18.492546
https://doi.org/10.1101/2022.05.18.492546
Autor:
Brianna DiSanza, Cas Simons, Guy Helman, Ryan Taft, Adeline Vanderver, Elizabeth Bhoj, Rebecca Ahrens-Nicklas
Publikováno v:
Molecular Genetics and Metabolism. 138:107403