Results 151 to 160 of about 156,383 (305)
Heterogenous Neuropathology in a Pedigree with RAB39B‐Related Parkinson's Disease
Movement Disorders, EarlyView.Abstract Background
In 2015, we reported a family with Parkinson's disease resulting from the RAB39B p.G192R (c.574G>A) variant. Since then, two affected brothers from the family have undergone autopsy. Objectives
To characterize neuropathological findings, assess intracellular distribution of RAB39B protein, and examine the effect of p.G192R on α ...Caitlin Latimer, Oswaldo Lorenzo‐Betancor, Dong‐Hui Chen, Kimmy Su, Marika Bogdani, Anna J. Park, Minsuh Kim, Joshua Weiss, Malia Callier, Ella H. Chiu, Sarah Fish, Jennifer L. Witt, Wendy H. Raskind, Marie Y. Davis, C. Dirk Keene, Cyrus P. Zabetian +15 morewiley +1 more sourceFrequency of ZFHX3‐Mediated Spinocerebellar Ataxia 4 in a US Undiagnosed Ataxia Cohort
Movement Disorders, EarlyView.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 sourceDNAJC13 Variants Show No Robust Association With Parkinson's Disease in a Multiancestry Cohort
Movement Disorders, EarlyView.Abstract Background
DNAJC13 was initially linked to autosomal dominant (AD) Parkinson's disease (PD) in a European Mennonite family carrying the p.N855S variant. However, imperfect segregation and conflicting reports of pathogenicity raised uncertainty of the role of DNAJC13 in the disease.César Luis Ávila, Mariam Isayan, Yasser Mecheri, Paula Saffie‐Awad, María Milagros Leila, Laurel A. Screven, Hampton Leonard, Maria Teresa Periñan, Sheila Yeboah, Kristin Levine, Mary B. Makarious, on behalf of the Global Parkinson's Genetics Program (GP2) +11 morewiley +1 more sourceDetermination of βS haplotypes in patients with sickle-cell anemia in the state of Rio Grande do Norte, Brazil
Genetics and Molecular Biology, 2011 βS haplotypes were studied in 47 non-related patients with sickle-cell anemia from the state of Rio Grande do Norte, Brazil. Molecular analysis was conducted by PCR/RFLP using restriction endonucleases XmnI, HindIII, HincII and HinfI to analyze six ...Cynthia Hatsue Kitayama Cabral, Édvis Santos Soares Serafim, Waleska Rayane Dantas Bezerra de Medeiros, Thales Allyrio Araújo de Medeiros Fernandes, Elza Miyuki Kimura, Fernando Ferreira Costa, Maria de Fátima Sonati, Ivanise Marina Moretti Rebecchi, Tereza Maria Dantas de Medeiros +8 moredoaj Taxonomy and phylogeny of the intercontinental disjunctive ferns: series Reniformia Adiantum
Nordic Journal of Botany, EarlyView.There are disputed opinions about the three taxa of series Reniformia, namely A. nelumboides X.C.Zhang (A. reniforme var. sinense Y.X.Lin), A. reniforme var. reniforme, and A. reniforme var. asarifolium (Willd.) R. Sim, owing to their similar morphology but intercontinental disjunctive distribution and close lineage with the series Venusta (only ...Ai‐Hua Wang, Xue‐Ping Lv, Xu‐Hang Zeng, Fa‐Guo Wang, Yong‐Bo Liu, Jianfei Sun, Tongxin He, Harald Schneider, Fu‐Wu Xing, Yue‐Hong Yan +9 morewiley +1 more sourceContinental accumulation of fads2 copy numbers allows sticklebacks to thrive across a diversity of nutritional landscapes
Oikos, EarlyView.Nutrients, including vital organic compounds, vary in availability across ecosystems, with the potential to act as a source of selection for traits that increase nutrient acquisition and biosynthesis. Compared to freshwaters, marine ecosystems are richer in the omega‐3 long‐chain polyunsaturated fatty acid (n‐3 LC‐PUFA) docosahexaenoic acid (DHA ...Cornelia W. Twining, Cameron M. Hudson, Jernej Bravničar, Antonella Carosi, Gaël P. J. Denys, Philine G. D. Feulner, Žiga Fišer, Hanna Rosinger, Verena Saladin, Linda Zanella, Davor Zanella, Catherine L. Peichel, Blake Matthews +12 morewiley +1 more source
