Results 91 to 100 of about 2,666 (203)

Effects of onabotulinum toxin type A injections in patients with Meige's syndrome

Arquivos de Neuro-Psiquiatria
Background Meige's syndrome is a type of facial dystonia characterized by the simultaneous occurrence of blepharospasm and oromandibular dystonia.
Alexia Duarte, Léo Coutinho, Francisco Manoel Branco Germiniani, Hélio Afonso Ghizoni Teive   +3 more
doaj   +1 more source

FAHN/SPG35 : a narrow phenotypic spectrum across disease classifications [PDF]

, 2019
The endoplasmic reticulum enzyme fatty acid 2-hydroxylase (FA2H) plays a major role in the formation of 2-hydroxy glycosphingolipids, main components of myelin. FA2H deficiency in mice leads to severe central demyelination and axon loss. In humans it has
Auer-Grumbach, M, Baets, J, Bassi, MT, Bauer, P, D'Angelo, MG, De Bleecker, Jan, De Jonghe, P, Debyser, M, Deconinck, T, Döbler-Neumann, M, Eckstein, KN, Giese, AK, Hörtnagel, K, Janauschek, M, Krägeloh-Mann, I, Lindig, T, Lopez de Munain, A, Münchau, A, Ortibus, E, Plecko, B, Pujol, A, Rattay, TW, Reichbauer, J, Schöls, L, Schüle, R, Smets, K, Söhn, AS, Wiethoff, S, Wilken, B, Züchner, S   +29 more
core   +1 more source

Pathogenic Variants in the PRKRA Gene Can Result in a Rapid‐Onset Dystonia‐Parkinsonism‐like Phenotype

Movement Disorders, EarlyView.
Maeve Bradley, Senan Maher, Christian Espinoza‐Vinces, Kathleen Gorman, Tim Lynch, Richard A. Walsh, Alberto J. Espay, Conor Fearon   +7 more
wiley   +1 more source

International Registry of NKX2‐1‐Related Disorders: Clinical, Genetic, and Imaging Perspectives

Movement Disorders, Volume 41, Issue 4, Page 889-900, April 2026.
Abstract Background NKX2‐1–related disorders result from heterozygous variants in NKX2‐1, a gene crucial for brain, lung, and thyroid development. Although movement disorders, hypothyroidism, and neonatal respiratory distress are recognized, the full phenotype and genotype–phenotype relationships remain incompletely defined.
Laia Nou‐Fontanet, Claudia Ravelli, Lydie Burglen, Sol Balsells Mejia, Angel Valls‐Villalba, Elies Roman Schiffels, Alice Innocenti, Beatriz Villafuerte, Ainara Salazar‐Villacorta, Vicente Quiroz, Andrea Sariego Jamardo, Giulia Bonato, Asun Díaz‐Gomez, Alexandra Afenjar, Catheline Vilain, Patricia Dumke da Silva Möller, Deyanira Garcia‐Navas Nuñez, Magdalena Krygier, Maria Judit Molnar, Łukasz Milanowski, Katrin Õunap, Micaela Pauni, Patricia Vega, Raphael Borie, Milena Villamil‐Osorio, Sanem Yilmaz, Dénes Zádori, Marta Zawadzka, Tahsin Stefan Barakat, Sebastian Neuens, Daniel de Natera‐de Benito, Dídac Casas‐Alba, Luca Soliani, Claudio M. de Gusmao, Giacomo Garone, Nicola Specchio, Miryam Carecchio, José C. Moreno, Francesca Magrinelli, Kailash P. Bhatia, Darius Ebrahimi‐Fakhari, Claudia Castiglioni, Manju Ann Kurian, João Nuno Carvalho, Roser Pons, Emmanuel Roze, Diane Doummar, Juan Darío Ortigoza‐Escobar   +47 more
wiley   +1 more source

Clinical Evaluation of Three KRS Families and Cellular Analysis of Distinct ATP13A2 Mutations Reveal Different Levels of Iron Accumulation

Journal of Neurochemistry, Volume 170, Issue 4, April 2026.
Different ATP13A2 mutations associated with Kufor‐Rakeb Syndrome (KRS) result in varying levels of intracellular iron accumulation. Frameshift and deletion mutations lead to excessive iron accumulation and increased cell death, whereas missense mutations cause milder functional impairment, resulting in lower iron accumulation and reduced cellular ...
Ezgi Erterek, Benan Temizci, Şeyma Tekgül, Bilal Çakır, A. Nazlı Başak, Murat Gültekin, Zuhal Yapıcı, Arzu Karabay   +7 more
wiley   +1 more source

Clinical Spectrum of Focal Dystonia in Patients at Tertiary Care Hospital in Karachi: A Cross-Sectional Study

Journal of University College of Medicine and Dentistry
Objective: To describe the clinical patterns and types of focal dystonia among patients presenting to the neurology department of a tertiary care hospital in Karachi. Methodology: This descriptive cross-sectional study was undertaken at Dr. Ruth K. M.
Rabiya Khan, Qamar-Un-Nisa, Sidra Jazil Faruqi, Sumera Rafat Umer, Rabia Iqbal, Wajid Jawaid   +5 more
doaj   +1 more source

The Glasgow Benefit Inventory: a systematic review of the use and value of an otorhinolaryngological generic patient-recorded outcome measure [PDF]

, 2016
The Glasgow Benefit Inventory (GBI) is a validated, generic patient-recorded outcome measure widely used in otolaryngology to report change in quality of life post-intervention.To date, no systematic review has made (i) a quality assessment of reporting ...
Akduman D., Baumgartner W.‐D., Dutt S.N., Dutt S.N., Konstantinidis I.V., Myrseth E., Salhab M., Santarius T., Schwentner I., Senska G., Shah M., Smirnov G., Spielmann P.M., Stewart E.J., Tsakiropoulou E.   +14 more
core   +2 more sources

Movement Disorders in Neuromyelitis Optica Spectrum Disorder: A Systematic Review

Movement Disorders Clinical Practice, Volume 13, Issue 3, Page 600-610, March 2026.
Abstract Background Several movement disorders (MD) have been reported to occur in neuromyelitis optica spectrum disorder (NMOSD). No extensive review has addressed the whole spectrum of MD in NMOSD. Objective This article aims to review MD in NMOSD, describing its prevalence and features.
Luciana A.F. Bringel, Pedro L.G.S.B. Lima, Pedro V.F. Rodrigues, Francisco L.H.B. Cavalcante, Amanda R. Pinheiro, Fabricia M.S. Saraiva, Cynthia P. Rodrigues, Paulo V.S. Gonçalves, Leonardo J.R.A. Melo, Antônio E. Camelo‐Filho, Avelino M. Dutra‐Junior, Samuel R.O. Veras, Fernanda M.M. Carvalho, Flávia P.S. Rolim, Gabriela J. Martins, José A.C. D'Almeida, Pedro Braga‐Neto, Milena S. Pitombeira, Paulo R. Nobrega   +18 more
wiley   +1 more source

Orofacial Dystonia and Other Oromandibular Movement Disorders [PDF]

, 2018
Orofacial movement disorders (OMD) are a group of conditions that affect the motor aspect of the trigeminal, facial, and hypoglossal cranial nerves. These alterations are produced by pathologic disorders affecting the central nervous system, manifesting ...
Chana, Pedro, Espinoza-Mellado, Paula, Skármeta, Nicolás Patricio   +2 more
core   +1 more source

Dystonia [PDF]

, 2003
Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/OpenDystonia is defined as a syndrome of sustained involuntary muscle contractions, frequently causing twisting, repetitive movements and abnormal postures ...
Hilmir Ásgeirsson, Sigurlaug Sveinbjörnsdóttir   +1 more
core