Results 201 to 210 of about 53,170 (302)

Prospective multi-phase observational study evaluating local field potentials to guide deep brain stimulation programming in dystonia at a UK Tertiary Neurosciences Centre (LFP-DYT): a protocol. [PDF]

BMJ Open
Ledingham D, Mills R, Gibbs M, Maynes M, Pal A, Iredale R, Foster V, Ong S, Sathyanarayana S, Jenkins A, Nicholson C, Hussain M, Baker MR, Pavese N.   +13 more
europepmc   +1 more source

Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi‐omics

Movement Disorders, EarlyView.
Abstract Background Long‐read sequencing and multi‐omic analytical frameworks are increasingly being adopted in rare disease diagnostics. However, clinical workflows comprehensively integrating these methodologies remain uncommon. Objective This study aimed to assess the potential and limitations of integrating long‐read genomic, transcriptomic, and ...
Ugo Sorrentino, Melanie Brugger, Alice Saparov, Ivana Dzinovic, Philip Harrer, Sandy Lösecke, Kevork Derderian, Martin Pavlov, Robert Kopajtich, Holger Prokisch, Arcangela Iuso, Maria Mazurkiewicz‐Bełdzińska, Deike Weiss, Christina Ludwig, Miriam Abele, Julia Mergner, Juliane Winkelmann, Theresa Brunet, Michał Schinwelski, Elisabeth Graf, Katja Kloth‐Stachnau, Theresia Herget, Magdalena Krygier, Michael Zech   +23 more
wiley   +1 more source

Impact of X-linked dystonia-parkinsonism on caregiver strain, anxiety and depression. [PDF]

BMJ Neurol Open
Cataniag P, Ong JN, Diesta CC.
europepmc   +1 more source

No Evidence for an Association Between DIP2B Repeat Expansion and Neurological Disease

Movement Disorders, EarlyView.
Chia‐Ying Ko, Leon Schütz, Thomas Braun, Elena Buena‐Atienza, Nicolas Casadei, Danique Beijer, Ludger Schöls, Tobias B. Haack, Stephan Ossowski, Holger Hengel   +9 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

NKX2‐1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea

Movement Disorders, EarlyView.
Abstract Background NKX2‐1–related disorders (NKX2‐1‐RDs) classically present with a triad of neurological, endocrine, and pulmonary manifestations, including benign hereditary chorea. However, in a fraction of patients, NKX2‐1 coding variants are not detected, and variants outside the NKX2‐1 locus have been reported.
Robin Wijngaard, Lucy Dougherty‐de Miguel, German Demidov, Galuh Astuti, Amaia Lasa‐Aranzasti, Ana Cueto‐González, Marta Correa‐Vela, Carlos Lázaro‐Hernández, Charlotte A. Haaxma, Clara D.M. van Karnebeek, David Gómez‐Andrés, Ignacio Iglesias‐Serrano, Jiddeke M. van de Kamp, Jolanda Schieving, Laura Trujillano, Marc Engelen, Beatriz Muñoz‐Cabello, Roderick P.P.W.M. Maas, Thatjana Gardeitchik, Victoria Gonzalez, Annemarie de Vreugd, Cristina Pérez‐Sanchez, Elisabet Lloveras, Erik‐Jan Kamsteeg, Maartje Pennings, Natalia Rey‐Viñets, Javier Sánchez, Ronald van Beek, Antonio Moreno‐Galdó, Lisenka E.L.M. Vissers, Kornelia Neveling, Anna Marcé‐Grau, Machteld M. Oud, Belén Pérez‐Dueñas   +33 more
wiley   +1 more source

Clinical efficacy of neuromodulation in isolated dystonia: A systematic review of motor function improvement. [PDF]

Neurol Sci
Carta D, Lo Buono V, Culicetto L, Bertino S, Terranova C, Formica C, Quartarone A, Marino S.   +7 more
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