Results 81 to 90 of about 3,165 (187)
Frequency of ZFHX3‐Mediated Spinocerebellar Ataxia 4 in a US Undiagnosed Ataxia Cohort
Movement Disorders, Volume 41, Issue 9, Page 2476-2489, September 2026.Abstract Background
Spinocerebellar ataxia 4 (SCA4) is a late‐onset dominant ataxia with neuropathy caused by exonic GGC repeat expansion in the ZFHX3 gene thought to originate from a Swedish founder event. The GC‐rich expansion is highly thermodynamically stable, posing challenges for standard clinical genetic testing methods.Annie Chen, Udbhav Avadhani, Kathie Ngo, Rosario I. Corona, George de V. Carvalho Neto, Karla P. Figueroa, Undiagnosed Diseases Network, Arian Nouraee, Carlos Prada, Erica Davis, Kai Lee Yap, Kelly Regan‐Fendt, María Paula Silva, Patrick McMullen, Alyssa A. Tran, Arjun Tarakad, Brendan H. Lee, Carlos A. Bacino, Christine M. Eng, Daryl A. Scott, Elaine Seto, Hongzheng Dai, Hsiao‐Tuan Chao, Hugo J. Bellen, Ivan Chinn, James P. Orengo, Jared Sninsky, Jill A. Rosenfeld, Kim Worley, Lauren Blieden, Lindsay C. Burrage, Lorraine Potocki, Michael F. Wangler, Monika Weisz Hubshman, Pengfei Liu, Richard A. Lewis, Ronit Marom, Sandesh Nagamani, Seema R. Lalani, Shamika Ketkar, Shinya Yamamoto, Tiphanie P. Vogel, William J. Craigen, Alan H. Beggs, Ganesh Mochida, Gerard T. Berry, Ingrid A. Holm, Lance H. Rodan, Tina Truong, Wendy Chung, David Chiang, Deepak A. Rao, J. Carl Pallais, Joseph Loscalzo, Jose Abdenur, Maija‐Rikka Steenari, Rebekah Barrick, Richard Chang, Cara Skraban, Gonench Kilich, Kathleen Sullivan, Ramakrishnan Rajagopalan, Rebecca Ganetzky, Anne Slavotinek, Christopher Mayhew, Eneida Mendonca, Ziyuan Guo, Kelly Schoch, Mohamad Mikati, Nicole M. Walley, Rebecca C. Spillmann, Vandana Shashi, Cecilia Esteves, Emily Glanton, Isaac S. Kohane, Kimberly LeBlanc, Shilpa N. Kobren, Ayuko Iverson, Bruce Gelb, Charlotte Cunningham‐Rundles, Eric Gayle, Joanna Jen, Louise Bier, Mafalda Barbosa, Manisha Balwani, Mariya Shadrina, Rachel Evard, Saskia Shuman, Susan Shin, Brett H. Graham, Erin Conboy, Francesco Vetrini, Kayla M. Treat, Khurram Liaqat, Lili Mantcheva, Stephanie M. Ware, Elizabeth Wohler, Julie Hoover‐Fong, Kathleen Page, Matthew Robinson, Nara Sobreira, Paul Auwaerter, Winston Timp, Yuka Manabe, David A. Sweetser, Frances High, Lauren C. Briere, Melissa Walker, Breanna Mitchell, Brendan C. Lanpher, Devin Oglesbee, Eric Klee, Filippo Pinto e Vairo, Ian R. Lanza, Kahlen Darr, Lindsay Mulvihill, Lisa Schimmenti, Queenie Tan, Abdul Elkadri, Brett Bordini, Donald Basel, James Verbsky, Julie McCarrier, Michael Muriello, Michael T. Zimmermann, Herman Taylor, Rakale C. Quarells, Andrea Gropman, Barbara N. Pusey Swerdzewski, Ben Afzali, Ben Solomon, Camilo Toro, Colleen E. Wahl, Cynthia J. Tifft, David R. Adams, Donna Novacic, Elizabeth A. Burke, Ellen F. Macnamara, Francis Rossignol, Heidi Wood, Jiayu Fu, Joie Davis, Leoyklang Petcharet, Lynne A. Wolfe, Margaret Delgado, Maria T. Acosta, Marie Morimoto, Marla Sabaii, May Christine V. Malicdan, Neil Hanchard, Orpa Jean‐Marie, Precilla D'Souza, Valerie V. Maduro, Wendy Introne, William A. Gahl, Yan Huang, Vaidehi Jobanputra, Chun‐Hung Chan, D Isum Ward, Francisco Bustos, Jason Schend, Jennifer Morgan, Megan Bell, Miranda Leitheiser, Mohamad Saifeddine, Paul Berger, Rachel Li, Taylor Beagle, Emily Shelkowitz, Eric Allenspach, Katrina Dipple, Seth Perlman, Beth A. Martin, Chloe M. Reuter, Devon Bonner, Euan A. Ashley, Hector Rodrigo Mendez, Holly K. Tabor, Jacinda B. Sampson, Jason Hom, Jennefer N. Kohler, Jennifer Schymick, John E. Gorzynski, Jonathan A. Bernstein, Kevin S. Smith, Laura Keehan, Laurens Wiel, Matthew T. Wheeler, Meghan C. Halley, Mia Levanto, Page C. Goddard, Paul G. Fisher, Rachel A. Ungar, Raquel L. Alvarez, Shruti Marwaha, Stephen B Montgomery, Suha Bachir, Tanner D Jensen, Taylor Maurer, Terra R. Coakley, Dana Sayer, Jennifer Tousseau, Aleksandra Foksinska, Andrew B. Crouse, Anna Hurst, Brandon M Wilk, Bruce R Korf, Elizabeth A Worthey, Kaitlin Callaway, Martin Rodriguez, Matthew Might, Pongtawat Lertwilaiwittaya, Reaford Blackburn, Teneasha Washington, William E. Byrd, Albert R. La Spada, Changrui Xiao, Elizabeth C. Chao, Eric Vilain, Kirsten Blanco, Sanaz Attaripour, Tahseen Mozaffar, Alden Huang, Andres Vargas, Brent L. Fogel, George Carvalho, Julian A. Martínez‐Agosto, Layal F. Abi Farraj, Manish J. Butte, Martin G. Martin, Naghmeh Dorrani, Neil H. Parker, Rosario I. Corona, Stanley F. Nelson, Yigit Karasozen, Carson A. Smith, Deborah Barbouth, Guney Bademci, Joanna M. Gonzalez, Kumarie Latchman, LéShon Peart, Mustafa Tekin, Nicholas Borja, Stephan Zuchner, Stephanie Bivona, Willa Thorson, Monte Westerfield, Anna Raper, Daniel J. Rader, Giorgio Sirugo, Aaron Quinlan, Alistair Ward, Ashley Andrews, Corrine K. Welt, Dave Viskochil, Erin E. Baldwin, Gabor Marth, John Carey, Lorenzo Botto, Matt Velinder, Nicola Longo, Paolo Moretti, Pinar Bayrak‐Toydemir, Rebecca Overbury, Rong Mao, Russell Butterfield, Steven Boyden, Thomas J. Nicholas, Andrew Stergachis, Danny E. Miller, Elisabeth Rosenthal, Elizabeth Blue, Elsa Balton, Fuki M. Hisama, Gail P. Jarvik, Ghayda Mirzaa, Ian Glass, Kathleen A. Leppig, Mark Wener, Martha Horike‐Pyne, Michael Bamshad, Peter Byers, Runjun Kumar, Sirisak Chanprasert, Virginia Sybert, Wendy Raskind, Alyson Krokosky, Ashley McMinn, Cathy Shyr, Eric Gamazon, John A. Phillips, Joy D. Cogan, Kimberly Ezell, Lakshitha Perera, Lisa Bastarache, Lynette Rives, Mary Koziura, Rizwan Hamid, Thomas Cassini, Alex Paul, Dana Kiley, Daniel Wegner, Dustin Baldridge, F. Sessions Cole, Jennifer Wambach, Jimann Shin, Kathleen A. Sisco, Lilianna Solnica‐Krezel, Patricia Dickson, Stephen C. Pak, Timothy Schedl, Lauren Jeffries, María José Ortuño Romero, Odelya Kaufman, Teodoro Jerves Serrano, Yong‐Hui Jiang, Susan Perlman, Stefan M. Pulst, Stanley F. Nelson, Darice Wong, Brent L. Fogel +320 morewiley +1 more sourceComplementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants
Annals of Clinical and Translational Neurology, Volume 13, Issue 7, Page 1467-1481, July 2026.ABSTRACT Objective
Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh +17 morewiley +1 more sourcePrevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohort [PDF]
, 2020 OBJECTIVE: We evaluated the prevalence of pathogenic repeat expansions in replication factor C subunit 1 (RFC1) and disabled adaptor protein 1 (DAB1) in an undiagnosed ataxia cohort from North America.Glotzer, Giacomo, Das, Soma, Glotzer, G, Hassin-Baer, Sharon, Aboud Syriani, Dona, De Gusmao, CM, Fogel, BL, Wong, D, Andani, Sameer, De Gusmao, Claudio, Perlman, Susan, Sanyoura, May, Gomez, Christopher, Aboud Syriani, D, Mao, Y, Lockhart, PJ, Khurana, V, Wong, Darice, Khurana, Vikram, Lockhart, Paul, Fogel, Brent, Andani, S, Gomez, CM, Hassin-Baer, S, Mao, Yuanming, Sanyoura, M, Perlman, S, Das, S +27 morecore +1 more sourceInvestigation of the RFC1 Repeat Expansion in a Canadian and a Brazilian Ataxia Cohort: Identification of Novel Conformations
Frontiers in Genetics, 2019 A biallelic pentanucleotide expansion in the RFC1 gene has been reported to be a common cause of late-onset ataxia. In the general population, four different repeat conformations are observed: wild type sequence AAAAG (11 repeats) and longer expansions ...Fulya Akçimen, Fulya Akçimen, Jay P. Ross, Jay P. Ross, Cynthia V. Bourassa, Calwing Liao, Calwing Liao, Daniel Rochefort, Maria Thereza Drumond Gama, Marie-Josée Dicaire, Orlando G. Barsottini, Bernard Brais, Bernard Brais, Bernard Brais, José Luiz Pedroso, Patrick A. Dion, Patrick A. Dion, Guy A. Rouleau, Guy A. Rouleau, Guy A. Rouleau +19 moredoaj +1 more sourceReduced Folate Carrier 1 (RFC1/Slc19a1) Suppression Exacerbates Blood-Brain Barrier Breakdown in Experimental Ischemic Stroke in Adult Mice
The Reduced Folate Carrier 1 (RFC1), also called solute carrier family 19 member 1 (SLC19A1/SLC19a1), is recognized for transporting folates across the blood-brain barrier (BBB).Wiart, Marlène, Marlène, Bozanoglu, Dilan, Gurler, Gokce, Leon, Christelle, Karatas, Hulya, Bolbos, Radu, Bahcekapili, Melike Sever, Yemisci, Muge, Chauveau, Fabien, Belder, Nevin +9 morecore +1 more sourceClinical, Genetic, and Imaging Characteristics of SCA27B: Insights from a Large Dutch Cohort
Movement Disorders, Volume 41, Issue 4, Page 928-936, April 2026.Abstract Background
Deep intronic GAA repeat expansions in intron 1 of the FGF14 gene were identified in 2023 as cause of late‐onset cerebellar ataxia. Since then, GAA‐FGF14‐related ataxia (SCA27B) has emerged as one of the most common genetic causes of late‐onset cerebellar ataxia.Teije H. van Prooije, Maartje Pennings, Roderick P.P.W.M. Maas, Jeroen de Vries, Corien Verschuuren‐Bemelmans, Vincent Odekerken, Sirwan K.L. Darweesh, Mark Huisman, Mayke Oosterloo, Arthur Buijink, Jaron van de Wardt, Els Vanhoutte, Tsz Hang Wong, Lisette Koens, Eva de Boer, Judith van Gaalen, Martijn Beudel, Dareia S. Roos, Jorrit I. Hoff, Thimo Cornelissen, Meyke Schouten, Thatjana Gardeichik, Erica van der Looij, Christine Klein, Joanne Trinh, Erik‐Jan Kamsteeg, Bart van de Warrenburg +26 morewiley +1 more sourceGenetic analysis of RFC1 with other meiotic recombination genes.
, 2012 Chromosome behavior of male meiocytes at pachytene and metaphase I. (A–B) spo11-1-1−/−. (C–D) The spo11-1-1−/− rfc1-2−/− double mutant showing similar chromosome behaviors to those of the spo11-1-1−/− single mutant. (E–F) rad51-3−/−. (G–H) The rad51-3−/− Zhihao Cheng (121493), Yingxiang Wang (121491), Jiyue Huang (121495), Gregory P. Copenhaver (121503), Yue Hong (121499), Hong Ma (48973), Qian Shi (28174), Zhizhong Gong (121507) +7 morecore +1 more source
