Results 111 to 120 of about 37,922 (217)

International Survey on Genetic Literacy and Awareness in Patients With Spinal and Bulbar Muscular Atrophy. [PDF]

Neurol Genet
Yamada S, Hashizume A, Ito D, Kishimoto Y, Komori S, Kawase T, Kondo A, Kiya Y, Nakatsuji H, Suzuki Y, Tako Y, Hamada Y, Slowe K, Thompson KA, Thompson T, Katsuno M.   +15 more
europepmc   +1 more source

Clinical Algorithm‐Guided Approach to Botulinum Toxin Type A Treatment for Axial Postural Abnormalities in Parkinson's Disease

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Axial postural abnormalities (APAs) are common, disabling complications of Parkinson's disease (PD) with unclear pathophysiology. The presence of hyperactivity in multiple trunk muscles supports the use of botulinum toxin (BTA). However, its application is complex, due to the lack of standardized clinical and electrophysiological ...
Giacomo Argenziano, Giovanna Squintani, Serena Camozzi, Ilaria Di Vico, Marialuisa Gandolfi, Carlo Alberto Artusi, Michele Tinazzi, Christian Geroin   +7 more
wiley   +1 more source

Bone Fragility and Fracture Characteristics in Patients With Spinal and Bulbar Muscular Atrophy. [PDF]

Eur J Neurol
Kawase T, Yamada S, Kishimoto Y, Ito D, Komori S, Kondo A, Iida M, Kawashima I, Takegami Y, Hashizume A, Imagama S, Katsuno M.   +11 more
europepmc   +1 more source

The Spectrum of Abnormal Tongue Movements: Review of Phenomenology, Etiology, and Differential Diagnosis

Movement Disorders Clinical Practice, EarlyView.
ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan, Seyed‐Mohammad Fereshtehnejad, Christos Ganos, Emily Swinkin, Anthony E. Lang   +4 more
wiley   +1 more source

Severe hyperCKaemia and decreased sarcolemmal dysferlin in VRK1-associated distal spinal muscular atrophy: a case report. [PDF]

BMJ Neurol Open
Siriniwasa H, Stirling MJL, Kean S, Pamphlett R, Silsby M.   +4 more
europepmc   +1 more source

Analysis of a Modified Version of the Inventory of Non‐Ataxia Signs Over 12 Years in Patients with Friedreich's Ataxia in the EFACTS Study

Movement Disorders, EarlyView.
Abstract Background Friedreich's ataxia is a rare, neurodegenerative, multisystem disorder. While ataxia is a hallmark, non‐ataxia signs, including muscle weakness, spasticity, and dysphagia are equally disabling. The Inventory of Non‐Ataxia Signs (INAS) is a symptom list transformable to a 16‐item count.
Stella Andrea Lischewski, Imis Dogan, Paola Giunti, Michael H. Parkinson, Caterina Mariotti, Alexandra Durr, Claire Ewenczyk, Sylvia Boesch, Wolfgang Nachbauer, Thomas Klopstock, Claudia Stendel, Francisco Javier Rodríguez de Rivera Garrido, Ludger Schöls, Zofia Fleszar, Thomas Klockgether, Marcus Grobe‐Einsler, Ilaria Giordano, Myriam Rai, Massimo Pandolfo, Heike Jacobi, Ralf‐Dieter Hilgers, Jörg B. Schulz, Kathrin Reetz, on behalf of the EFACTS Study Group   +23 more
wiley   +1 more source

Establishing Diagnostic and Differential Diagnostic Criteria for Amyotrophic Lateral Sclerosis. [PDF]

J Clin Med
Dziadkowiak E, Marschollek K, Kwaśniak-Nowakowska A, Zimny A, Rałowska-Gmoch W, Boroń M, Koszewicz M.   +6 more
europepmc   +1 more source

A Network Centered on the Visual‐Motor Cortex Is Critically Involved in Postural Abnormality in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Postural abnormality (PA) is a key motor symptom in Parkinson's disease (PD) that leads to disability and death. However, the pathophysiology underlying PA is still unknown. Objective The objective of this study was to explore the neural patterns behind PAs and measures toward functional restoration using repetitive transcranial ...
Zhuang Wu, Sha Zhu, Ronghua Hong, Zhuoyu Zhang, Yanzi Peng, Jingxing Zhang, Lizhen Pan, Qiang Guan, Yuhui Chen, Lingjing Jin   +9 more
wiley   +1 more source

Spinal Muscular Atrophy in Colombia: Nationwide Incidence, Demographic Distribution, and Healthcare Challenges. [PDF]

Cureus
Villamil-Osorio M, Correa-Arrieta CA, Castellar Leones SM, Bobadilla-Quesada EJ, Maradei-Anaya S.   +4 more
europepmc   +1 more source

Characteristics of Swallowing Function in People with Parkinson's Disease: A Scoping Review

Movement Disorders, EarlyView.
Abstract Background Most individuals with Parkinson's disease (PD) develop dysphagia during the course of their disease. It is crucial to comprehensively understand swallowing characteristics specific to PD for effective treatment. Objectives To systematically analyze and synthesize swallowing characteristics in people with PD compared with healthy ...
Kerstin Erfmann, Julia Hirschwald, Jule Hofacker, Katharina Winiker, Juliane Klann, Rainer Dziewas, Tobias Warnecke   +6 more
wiley   +1 more source