Results 61 to 70 of about 5,463 (156)

Alternating hemiplegia of childhood-related neural and behavioural phenotypes in Na+, K+-ATPase a3 missense mutant mice [PDF]

, 2013
Missense mutations in ATP1A3 encoding Na+,K+-ATPase α3 have been identified as the primary cause of alternating hemiplegia of childhood (AHC), a motor disorder with onset typically before the age of 6 months. Affected children tend to be of short stature
Edwards, Ian J., Susan H Fox, Kirshenbaum, Greer S., Mullins, Jonathan G. L., Pratt, Judith A, Kirshenbaum, Greer S, Mark J Drinkhill, Roder John C., Greer S Kirshenbaum, Drinkhill Mark J., Jonathan G L Mullins, Jonathan M. Brotchie (355205), Clapcote, Steven J., Brotchie, Jonathan M, Brotchie, Jonathan M., Edwards, Ian, Tom H Johnston, Mullins, Jonathan, Roder, John, Jonathan M Brotchie, Roder, John C., Ian J Edwards, Mullins, Jonathan G L, Neil Dawson (392035), Kirshenbaum, Greer, Johnston Tom H., Johnston, Tom H., Judith A Pratt, Mark J. Drinkhill (392036), Pratt, Judith, Fox, Susan H., Susan H. Fox (306673), Dawson, Neil, Roder, John C, Pratt Judith A., Brotchie Jonathan M., Fox Susan H., Drinkhill, Mark J., Johnston, Tom H, Clapcote, Stephen, Jonathan G. L. Mullins (215855), John C. Roder (109647), Mullins Jonathan G. L., Greer S. Kirshenbaum (392034), Tom H. Johnston (306667), Kirshenbaum Greer S., Fox, Susan, Johnston, Tom, Steven J Clapcote, Brotchie, Jonathan, Drinkhill, Mark, Fox, Susan H, Drinkhill, Mark J, Neil Dawson, Judith A. Pratt (392038), Ian J. Edwards (392037), Steven J. Clapcote (392039), Pratt, Judith A., John C Roder, Dawson Neil, Edwards, Ian J, Edwards Ian J., Clapcote, Steven J, Clapcote Steven J.   +63 more
core   +1 more source

Motor assessment of X-linked dystonia parkinsonism via machine-learning-based analysis of wearable sensor data

Scientific Reports
X-linked dystonia parkinsonism (XDP) is a neurogenetic combined movement disorder involving both parkinsonism and dystonia. Complex, overlapping phenotypes result in difficulties in clinical rating scale assessment.
Federico Parisi, Giulia Corniani, Paolo Bonato, David Balkwill, Patrick Acuna, Criscely Go, Nutan Sharma, Christopher D. Stephen   +7 more
doaj   +1 more source

De novo variants in WDR45 underlie beta‐propeller protein‐associated neurodegeneration in five independent families

Molecular Genetics & Genomic Medicine, 2020
Background Beta‐propeller protein‐associated neurodegeneration (BPAN) is a rare, X‐linked dominant neurodegenerative disease mainly characterized by developmental delay, intellectual disability, epilepsy in childhood and dystonia, parkinsonism, dementia ...
Xiaojun Tang, Xiaoping Lan, Xiaozhen Song, Wuhen Xu, Yuanfeng Zhang, Hong Zhang, Shengnan Wu   +6 more
doaj   +1 more source

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 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

Variability of motor imagery in children with cerebral palsy examined using the Hand Laterality Test

Developmental Medicine &Child Neurology, EarlyView.
Variability of motor imagery performance in children with cerebral palsy. Abstract Aim To examine motor imagery performance in children with cerebral palsy (CP) compared to typically developing children and develop a composite motor imagery score to differentiate between the two groups. Method In this cross‐sectional case–control study, 37 participants
Inbar Breuer Asher, Dafna Guttman, Pavel Goldstein, Tal Krasovsky   +3 more
wiley   +1 more source

The Genetic Landscape of Parkinsonism-Related Dystonias and Atypical Parkinsonism-Related Syndromes

, 2021
In recent decades, genetic research has nominated promising pathways and biological insights contributing to the etiological landscape of parkinsonism-related dystonias and atypical parkinsonism-related syndromes.
Joos Berghausen, Pilar Alvarez Jerez, Sara Bandres-Ciga, Monica Diez-Fairen   +3 more
core   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Advancing Flexible Pressure Sensors for Next‐Generation Medical Monitoring

Advanced Sensor Research, Volume 5, Issue 6, June 2026.
This review highlights recent advances in flexible pressure sensors for next‐generation medical monitoring. The sensing mechanisms, material and structural optimization strategies, and intelligent algorithms are systematically summarized. Emerging applications in cardiovascular, respiratory, neurological, laryngeal, and ocular disease monitoring are ...
Chunjun Su, Xingfa Gao, Rixuan Wang, Shuhua Yang, Yinglun Sun   +4 more
wiley   +1 more source

THE GENETIC BASIS OF PRIMARY ADULT-ONSET DYSTONIA

, 2011
Objectives. To identify novel genetic loci associated with primary adult-onset dystonia (AOD) and assess candidate genes from the literature. Secondary aimes.
Esposito, Marcello
core