Results 81 to 90 of about 37,093 (216)

FXTAS and the Spectrum of FMR1 Premutation‐Associated Phenotypes in Latin America: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder caused by FMR1 premutation expansions (55–200 CGG repeats). Although well described in populations of predominantly European ancestry, FXTAS remains poorly characterized in Latin America due to limited awareness, restricted access to ...
Amy Schmidmajer, Salomón Páez‐García, Santiago Martínez, Jacobo Ramírez‐Triana, Kevin O'Hara‐Veintimilla, Andrés Ricaurte‐Fajardo, Catalina Cerquera‐Cleves   +6 more
wiley   +1 more source

Interacting with Smart Virtual Assistants for Individuals with Dysarthria: A Comparative Study on Usability and User Preferences

Applied Sciences
This study explores the effectiveness and user experience of different interaction methods used by individuals with dysarthria when engaging with Smart Virtual Assistants (SVAs).
Aisha Jaddoh, Fernando Loizides, Omer Rana, Yasir Ahmed Syed   +3 more
doaj   +1 more source

Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case‐Series and Literature Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan, Laura Tochen, Jacky Ganguly, Sayoni Roy Chowdhury, Haya S AlFaris, Vivek Pai, Andrea LeBlanc‐Millar, Sara Breitbart, Hrishikesh Kumar, Manohar Shroff, Arun Reginald, Grace Yoon, Alfonso Fasano, George M Ibrahim, Carolina Gorodetsky   +14 more
wiley   +1 more source

Continuous Apomorphine Infusion in Multiple System Atrophy Real‐World Insights From a French Nationwide Retrospective Cohort

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Continuous subcutaneous apomorphine infusion (CSAI) is effective in Parkinson's disease but has not been evaluated in multiple system atrophy (MSA). Objective To assess the 6‐month efficacy and tolerability of CSAI in MSA patients. Methods French multicenter retrospective registry‐based analysis of CSAI use in MSA.
Simon Lamy, Frederique Leh, Alexandra Foubert‐Samier, Soizic Leguy Bonnet, Guillaume Baille, Margherita Fabbri, Margaux Dunoyer, Lise Mantisi, Caroline Giordana, Anaïs El Ouartassi, Olivier Rascol, Wassilios G. Meissner, David Bendetowicz, Marie Vanel, David Grabli, Fabienne Ory‐Magne, Sophie Drapier   +16 more
wiley   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Isolated dysarthria [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2000
B, Okuda, H, Tachibana
openaire   +2 more sources

Refractory Motor Complications: Towards a Pragmatic Definition

Movement Disorders Clinical Practice, EarlyView.
Georg Ebersbach, Tobias Warnecke
wiley   +1 more source

Early and Progressive Spinal Cord Atrophy in Spinocerebellar Ataxia Type 1

Movement Disorders, EarlyView.
Abstract Background Spinocerebellar ataxia type 1 (SCA1) is a rare, autosomal dominant neurodegenerative disorder characterized by progressive cerebellar and brainstem degeneration. Previous studies have shown that spinal cord atrophy is also a key aspect of SCA1 neuropathology.
Colette J.M. Reniers, Teije H. van Prooije, Kirsten C.J. Kapteijns, Jack J.A. van Asten, Caterina Mariotti, Lidia Sarro, Anna Nigri, Marina Grisoli, Giulia Coarelli, Alexandra Durr, Tom Scheenen, Bart van de Warrenburg   +11 more
wiley   +1 more source

A Case of Functional Movement Disorder Preceding Right Temporal Predominant Frontotemporal Degeneration

Movement Disorders Clinical Practice, EarlyView.
Isis So, Aditya Murgai, Elizabeth C. Finger, Miguel Restrepo‐Martinez   +3 more
wiley   +1 more source

Speech and Deep Brain Stimulation in Parkinson's Disease, Essential Tremor, and Dystonia: A Systematic Review and Meta‐analysis

Movement Disorders, EarlyView.
Abstract Deep brain stimulation (DBS) effectively treats motor symptoms in movement disorders but often compromises speech through incompletely defined mechanisms. We conducted a PROSPERO‐registered systematic review and meta‐analysis of publications through August 2024 (CRD42024527738).
Elina Tripoliti, Takashi Tsuboi, Michael T. Barbe, Mario Sousa, Julie Barkmeier‐Kraemer, Hannah Jergas, Gaia Arno, Nicole Buie, Mikayla Day, Petr Krýže, Jayson R. Nelson, Aaron E.L. Warren, Shervin Rahimpour, Jan Rusz, Paul Krack, Kristina Simonyan   +15 more
wiley   +1 more source