Results 161 to 170 of about 45,153 (265)

Orthostatic Myoclonus—Clinical and Electrophysiological Features in a Large Retrospective Cohort

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Orthostatic myoclonus is characterized by irregular, lower limb myoclonic bursts during stance and is a major cause of postural instability and falls. However, studies are limited, and little is known about its pathophysiology. Objectives We sought to define the clinical and electrophysiological features of orthostatic myoclonus in ...
Sai A. Nagaratnam, Niroshan Jeyakumar, Gobishan Jeyakumar, Florence Chang, Duncan Wilson, Paloma Becker, Hugo Morales‐Briceno, Neil Mahant, Victor S.C. Fung   +8 more
wiley   +1 more source

Retinitis & optic neuropathy as a complication of Brucellosis: A case report. [PDF]

Am J Ophthalmol Case Rep
Al-Hindi H, Curtis A, Pratt J, Al-Hindi M, Nigam N.   +4 more
europepmc   +1 more source

Falls in Huntington's Disease: A Cross‐Sectional Analysis of Clinical Features and Potential Contributors

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Falls occur across all stages of Huntington's disease (HD) and are associated with poor quality of life and injury. However, there is limited information on falls in HD. Objective The aim was to investigate the clinical features potentially associated with falls in HD. Methods We conducted a cross‐sectional, analytical observational
Arthur Pena Ferreira, Sarah Edith Souza de Assis Leão, Ricardo Oliveira Horta Maciel, Débora Palma Maia, Aline Alvim Scianni, Francisco Eduardo Costa Cardoso   +5 more
wiley   +1 more source

Investigating the Link Between Glucagon-Like Peptide-1 (GLP-1) Receptor Agonists and Non-arteritic Ischemic Optic Neuropathy: A Case Report of Semaglutide-Induced Optic Neuropathy. [PDF]

Cureus
Bakheet M, Chaudhary A.
europepmc   +1 more source

Central Nervous System Tumors in Xeroderma Pigmentosum: Five Cases and Review of the Literature

Movement Disorders, EarlyView.
Abstract Background Xeroderma pigmentosum (XP) is a rare autosomal recessive DNA‐repair disorder characterized by extreme ultraviolet radiation (UVR) sensitivity, markedly increased cutaneous malignancy risk, and progressive neurological disease in approximately one‐third of patients.
Farrah S. Bakr, Huseyin Arisoy, Alan R. Lehmann, Paola Giunti, Hiva Fassihi   +4 more
wiley   +1 more source

Frequency 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 more
wiley   +1 more source

DNA Repair Pathway Variants Are Enriched in Individuals with Biallelic AAGGG CANVAS and RFC1‐Related Disease

Movement Disorders, EarlyView.
Abstract Background Cerebellar ataxia, neuropathy and vestibular are flexia syndrome (CANVAS) and RFC1‐related disease are most commonly caused by biallelic AAGGG repeat expansions in RFC1. The high population frequency of this expansion compared to the frequency of CANVAS suggests incomplete penetrance.
Xuemin Wang, Liam G. Fearnley, Kayli C. Davies, Penny Snell, Stuart Lee, Victoria E. Jackson, Justin Read, Michael Milton, Ian H. Harding, Martin B. Delatycki, David J. Szmulewicz, Paul J. Lockhart, Melanie Bahlo, Haloom Rafehi   +13 more
wiley   +1 more source

Diagnostic Dilemma: Incipient Non-Arteritic Anterior Ischemic Optic Neuropathy vs. Steroid-Responsive Inflammatory Optic Neuropathy. [PDF]

Rom J Ophthalmol
Shah A, Stephen M, Deb AK, Basa K.
europepmc   +1 more source

Why Use Immersive Virtual Reality to Assess Gait in Functional Motor Disorders?

Movement Disorders, EarlyView.
Abstract Background Functional motor disorders (FMD) are disabling conditions modulated by attentional demands. Immersive virtual reality (iVR) engages multiple attentional and sensory networks, but its application in people with FMD (PwFMD) remains limited.
Marialuisa Gandolfi, Chiara Bonetto, Corrado Perin, Angela Sandri, Giulia Bonardi, Ilaria Antonella Di Vico, Laura Avanzino, Elisa Pelosin, Mauro Crestani, Christian Geroin, Denis Vidale, Marco Pirini, Mirta Fiorio, Michele Tinazzi, Francesca Salaorni   +14 more
wiley   +1 more source

Anterior Ischemic Optic Neuropathy as a Paraneoplastic Manifestation of Colorectal Cancer. [PDF]

Cureus
Ferreira Sacramento G, Brito S, Mesquita T.   +2 more
europepmc   +1 more source