Zobrazeno 1 - 10
of 200
pro vyhledávání: '"Grace, Yoon"'
Autor:
Debjit Khan, Iyappan Ramachandiran, Kommireddy Vasu, Arnab China, Krishnendu Khan, Fabio Cumbo, Dalia Halawani, Fulvia Terenzi, Isaac Zin, Briana Long, Gregory Costain, Susan Blaser, Amanda Carnevale, Valentin Gogonea, Ranjan Dutta, Daniel Blankenberg, Grace Yoon, Paul L. Fox
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-24 (2024)
Abstract Hypomyelinating leukodystrophy (HLD) is an autosomal recessive disorder characterized by defective central nervous system myelination. Exome sequencing of two siblings with severe cognitive and motor impairment and progressive hypomyelinatio
Externí odkaz:
https://doaj.org/article/3f6584a19f4b41cfbb1ed508918c473a
Autor:
Youjin Oh, Grace Yoon, Michael Maier, Bruno Reversade, Jessie Cameron, Susan Blaser, Cynthia Hawkins
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101168- (2024)
Externí odkaz:
https://doaj.org/article/0c3457b103b34492827f462dbb0b1338
Autor:
Zuzana Cihlarova, Jan Kubovciak, Margarita Sobol, Katerina Krejcikova, Jana Sachova, Michal Kolar, David Stanek, Cyril Barinka, Grace Yoon, Keith W. Caldecott, Hana Hanzlikova
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-14 (2022)
Mutations in BRAT1 are associated with neurodevelopmental delay and neurodegeneration. Here, the authors show that BRAT1 is a component of Integrator and is important for processing of specific RNAs. They further demonstrate that BRAT1 mutant patient
Externí odkaz:
https://doaj.org/article/b2171acc68da4971bf5ba54158e90c31
Autor:
Geert Vander Stichele, Alexandra Durr, Grace Yoon, Rebecca Schüle, Craig Blackstone, Giovanni Esposito, Connor Buffel, Inês Oliveira, Christian Freitag, Stephane van Rooijen, Stéphanie Hoffmann, Leen Thielemans, Belinda S. Cowling
Publikováno v:
BMC Neurology, Vol 22, Iss 1, Pp 1-14 (2022)
Abstract Background Hereditary spastic paraplegias (HSPs) are progressively debilitating neurodegenerative disorders that follow heterogenous patterns of Mendelian inheritance. Available epidemiological evidence provides limited incidence and prevale
Externí odkaz:
https://doaj.org/article/4b91df4e70df4339b6373b3af949852a
Autor:
Marina DiStefano, Ryan Webb, Hannah McCurry, Shannon McNulty Gray, Swati Tomar, Prasad Kopparapu, Eleanor Broeren, Kezang Tshering, Alan Beggs, Enrico Silvio Bertini, Adele D'Amico, Sandra Donkervoort, James Dowling, Fabiana Fattori, Ana Ferreiro, Casie Genetti, Hernan Gonorazky, Svetlana Gorokhova, Amanda Lindy, Livija Medne, Sander Pajusalu, Katarina Pelin, John Rendu, Matteo Vatta, Tom Winder, Hui Yang, Grace Yoon, Ozge Ceyhan-Birsoy, Carsten Bönnemann
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100499- (2023)
Externí odkaz:
https://doaj.org/article/e75223815948439e9477ffcd46c3405b
Autor:
Aristides Hadjinicolaou, Kathie J. Ngo, Daniel Y. Conway, John P. Provias, Steven K. Baker, Lauren I. Brady, Craig L. Bennett, Albert R. La Spada, Brent L. Fogel, Grace Yoon
Publikováno v:
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-13 (2021)
Abstract Pathogenic variants in SETX cause two distinct neurological diseases, a loss-of-function recessive disorder, ataxia with oculomotor apraxia type 2 (AOA2), and a dominant gain-of-function motor neuron disorder, amyotrophic lateral sclerosis t
Externí odkaz:
https://doaj.org/article/461130cb06754f06a682219f2ea46453
Autor:
Christian Rummey, John M. Flynn, Louise A. Corben, Martin B. Delatycki, George Wilmot, Sub H. Subramony, Khalaf Bushara, Antoine Duquette, Christopher M. Gomez, J. Chad Hoyle, Richard Roxburgh, Lauren Seeberger, Grace Yoon, Katherine D. Mathews, Theresa Zesiewicz, Susan Perlman, David R. Lynch
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 6, Pp 1239-1250 (2021)
Abstract Objective The objective of this study was to characterize the incidence and progression of scoliosis in the natural history of Friedreich’s ataxia (FRDA) and document the factors leading to the requirement for corrective surgery. Methods D
Externí odkaz:
https://doaj.org/article/a2cb84dbe2df4c25be195148b462d7da
Autor:
Natacha A. Agabalyan, Holly D. Sparks, Samar Tarraf, Nicole L. Rosin, Katie Anker, Grace Yoon, Lindsay N. Burnett, Duncan Nickerson, Elena S. Di Martino, Vincent A. Gabriel, Jeff Biernaskie
Publikováno v:
Stem Cell Reports, Vol 13, Iss 6, Pp 1068-1082 (2019)
Summary: Following full-thickness skin injuries, epithelialization of the wound is essential. The standard of care to achieve this wound “closure” in patients is autologous split-thickness skin grafting (STSG). However, patients living with STSGs
Externí odkaz:
https://doaj.org/article/fa9ff1b35d31417293618e96c6d07f06
Autor:
Reini E N van der Welle, Rebekah Jobling, Christian Burns, Paolo Sanza, Jan A van der Beek, Alfonso Fasano, Lan Chen, Fried J Zwartkruis, Susan Zwakenberg, Edward F Griffin, Corlinda ten Brink, Tineke Veenendaal, Nalan Liv, Conny M A van Ravenswaaij‐Arts, Henny H Lemmink, Rolph Pfundt, Susan Blaser, Carolina Sepulveda, Andres M Lozano, Grace Yoon, Teresa Santiago‐Sim, Cedric S Asensio, Guy A Caldwell, Kim A Caldwell, David Chitayat, Judith Klumperman
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 5, Pp n/a-n/a (2021)
Abstract Vacuolar protein sorting 41 (VPS41) is as part of the Homotypic fusion and Protein Sorting (HOPS) complex required for lysosomal fusion events and, independent of HOPS, for regulated secretion. Here, we report three patients with compound he
Externí odkaz:
https://doaj.org/article/d01804508d9f4013b7635980e96e72a8
Autor:
María Cristina Estañ, Elisa Fernández-Núñez, Maha S. Zaki, María Isabel Esteban, Sandra Donkervoort, Cynthia Hawkins, José A. Caparros-Martin, Dimah Saade, Ying Hu, Véronique Bolduc, Katherine Ru-Yui Chao, Julián Nevado, Ana Lamuedra, Raquel Largo, Gabriel Herrero-Beaumont, Javier Regadera, Concepción Hernandez-Chico, Eduardo F. Tizzano, Victor Martinez-Glez, Jaime J. Carvajal, Ruiting Zong, David L. Nelson, Ghada A. Otaify, Samia Temtamy, Mona Aglan, Mahmoud Issa, Carsten G. Bönnemann, Pablo Lapunzina, Grace Yoon, Victor L. Ruiz-Perez
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-19 (2019)
FXR1P is a RNA binding protein involved in muscle development. Here, the authors show that mutations in FXR1 exon 15, which is alternatively spliced in muscle, cause multi-minicore myopathy in humans and in mouse models.
Externí odkaz:
https://doaj.org/article/ae986c1ae3dd41bca1ed0fb9586a13c8