Results 121 to 130 of about 8,747 (246)

Evaluation of the quality of life in patients with segmental dystonia [PDF]

, 2012
Background/Aim. Segmental dystonia is an abnormal movement, characterized by involuntary, sustained and repetitive muscular contractions, causing twisting and abnormal posturing of two or more adjacent body parts.
Basurović Nataša, Kostić Vladimir S., Pekmezović Tatjana, Svetel Marina   +3 more
core   +1 more source

Adult‐Onset Acute Cerebellar Ataxia with Preceding Essential Tremor‐like Syndrome Associated with a Novel Variant in ATP1A3

Movement Disorders Clinical Practice, EarlyView.
Lukas Gattermeyer‐Kell, Sebastian Franthal, Maria Tscherner, Mariella Kögl, Petra Katschnig‐Winter, Christian Windpassinger, Petra Schwingenschuh   +6 more
wiley   +1 more source

Expanding the Genetic and Phenotypic Spectrum of DYT‐VPS16: The Importance of Splice‐Site Variants

Movement Disorders, EarlyView.
Abstract Background DYT‐VPS16, an early‐onset isolated dystonia caused by variants in the VPS16 gene, has been reported in fewer than 70 patients. Methods We explored the clinical and genotypic spectrum of DYT‐VPS16 by investigating early‐onset dystonia patients with VPS16 variants discovered in our large Biodatabank and through gene‐matching ...
Ana Westenberger, Edgard Verdura, Mandy Radefeldt, Leslie E. Sanderson, Kornelia Tripolszki, Anna Marcé‐Grau, Ana Cazurro‐Gutiérrez, Anita Nikoncuk, Rebecca Herzog, Ruslan Al‐Ali, Mariana Ferreira, Ligia S. Almeida, Tainá Regina Damaceno Silveira, Suliman Khan, Raphael Doyle Maia, Péter Klivényi, András Salamon, Volkan Baltaci, Asli Subasioglu, Jeanette Prada‐Arismendy, Goran Čuturilo, Sebastian Loens, Vera Tadic, Isabelle Maystadt, Deniz Karadurmus, Barbara Leube, Jonathan De Winter, Alice Monticelli, Liesbeth De Waele, Jonathan Baets, Mateja Vinkšel, Aleš Maver, Lorena Tschopp, Gabriela Ziegler, Ana Sanguinetti, Katja Lohmann, Tahsin Stefan Barakat, Peter Bauer, Belén Perez‐Dueñas, Aida M. Bertoli‐Avella   +39 more
wiley   +1 more source

Dystonia: opportunities to gain insights into underlying pathophysiological mechanisms [PDF]

, 2017
Dystonia is one of the most common movement disorders, a core component of the isolated and combined dystonias as well as contributing to the motor phenotype of several neurodegenerative movement disorders, such as Parkinson’s disease and Huntington’s ...
Peall, Kathryn J, Robertson, Neil
core   +1 more source

Huntington's Disease‐like Syndrome as a Rare Presentation of CACNA1A‐Related Disorder

Movement Disorders Clinical Practice, EarlyView.
Petros Boumis, Constantin Potagas, Christos Koros, Vasilios Constantinides, Nikolaos Ragazos, Chrysoula Koniari, Stavroula Aristeidou, Chrisoula Kartanou, Emmanouela Linardaki, Nektarios Tavernarakis, Evangelos Anagnostou, Leonidas Stefanis, Socratis Papageorgiou, Georgia Karadima, Georgios Koutsis   +14 more
wiley   +1 more source

Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 Deficiency

Movement Disorders, EarlyView.
Abstract Background Allan‐Herndon‐Dudley syndrome (AHDS)/monocarboxylate transporter 8 (MCT8) deficiency is a rare X‐linked encephalopathy caused by SLC16A2 variants, impairing thyroid hormone (TH) transport into the brain. This leads to early central nervous system (CNS) TH deficiency, affecting brain maturation.
Fabio Bruschi, Ylenia Vaia, Clara E. Antonello, Marco Spada, Francesco Porta, Cristina Marinaccio, Claudia Carducci, Thomas Opladen, Jacopo Sartorelli, Federica Maria Zibordi, Daniele Ghezzi, Francesco Nicita, Davide Tonduti   +12 more
wiley   +1 more source

Polyelectromyography Under Propofol to Differentiate Functional from Idiopathic Dystonia: A Pilot Study

Movement Disorders, EarlyView.
Abstract Background Functional dystonia (FD) is one of the most diagnostically challenging functional movement disorders. Phenomenological features often lack specificity, as many are also observed in idiopathic dystonia (ID) and validated biomarkers to distinguish FD from ID are currently unavailable Objective To investigate potential differences in ...
Roberto Eleopra, Fabio Paio, Sara Rinaldo, Carla Carozzi, Amanda Oriana, Grazia Devigili, Luigi Michele Romito, Roberto Cilia, Nico Golfrè Andreasi, Gianfranco Gaudiano, Marta Corradi, Antonio Emanuele Elia, Fabiana Colucci, Arianna Braccia, Roberta Telese, Michele Tinazzi, Marco Gemma, Valentina Leta   +17 more
wiley   +1 more source

Cathodal transcranial direct current stimulation improves focal hand dystonia in musicians: A two-case study [PDF]

, 2017
Focal hand dystonia (FHD) in musicians is a movement disorder causing abnormal movements and irregularities in playing. Since weak electrical currents applied to the brain induce persistent excitability changes in humans, cathodal tDCS was proposed as a ...
Barbieri, Sergio, Ferrucci, Roberta, Fumagalli, Manuela, Mameli, Francesca, Marceglia, SARA RENATA FRANCESCA, Mrakic-Sposta, Simona, Priori, Alberto, Vergari, Maurizio   +7 more
core   +1 more source

Teaching Video NeuroImages: The signs of dystonic tremor [PDF]

, 2018
Jennifer Sharma, Daniel Macías‐García, Amir Zaidi, Alberto J. Espay   +3 more
openalex   +1 more source

Distinct Roles of Cerebellar Afferent and Efferent Fiber Tracts in Craniocervical Dystonia

Movement Disorders, EarlyView.
Abstract Background The cerebellum has been widely implicated in the pathogenesis of craniocervical dystonia (CCD). Subthalamic nucleus deep brain stimulation (STN‐DBS) has emerged as an effective therapy for CCD. However, the roles of cerebellar afferent and efferent pathways in CCD pathogenesis and STN‐DBS treatment remain poorly understood ...
Bin Liu, Wenjie Li, Yanyang Zhang, Tao Yu, Zaixu Cui, Xiaoyu Xu, Junpeng Xu, Xin Chen, Jingyu Feng, Zhiqi Mao, Jun Yang   +10 more
wiley   +1 more source