Results 291 to 300 of about 123,648 (399)

Parkinsonism-dystonia syndrome due to a PARK7 gene mutation. [PDF]

Clin Park Relat Disord
Calvano A, Bingoel D, Beccaria L, Bodlee F, Timmermann L, Kurka N, Pedrosa DJ.   +6 more
europepmc   +1 more source

Electromyographic evidence in support of a knock‐in mouse model of DYT1 Dystonia

, 2016
Mark P. DeAndrade, Amy Trongnetrpunya, Fumiaki Yokoi, Chad C. Cheetham, Ning Peng, J. Michael Wyss, Mingzhou Ding, Yuqing Li   +7 more
openalex   +1 more source

‘What's in a Name?’ Naming Genetically Determined Movement Disorders: Gap and Controversy

Movement Disorders, EarlyView.
Abstract In 2016, the International Parkinson and Movement Disorder Society (MDS) Task Force for Genetic Nomenclature in Movement Disorders laid out a new proposal for naming genetically determined movement disorders. This proposal sought to address the difficulties arising from the practical usage of numbered loci (eg, DYT1, DYT2, DYT3, etc.) as names
Connie Marras, Alberto Albanese, Mark Hallett, Christine Klein, Katja Lohmann, the Genetic Nomenclature in Movement Disorders Study Group Steering Committee, Christos Ganos, Sarah Camargos, Anthony E. Lang, Darius Ebrahimi‐Fakhari, Claudia Del Gamba, Bart van de Warrenburg, Lakshya Basumatary, Lara Lange, Diana Olszewska, Zhidong Cen, Kishore Kumar, Mohamed Zahir, Carolyn Sue, H.A. Jinnah   +19 more
wiley   +1 more source

"Gol-Gappa" Dystonia - A Novel Form of Focal Task-Specific Dystonia. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Thakkar A, Barad N.
europepmc   +1 more source

Functional Connectivity to the Cerebellum and Resting‐State Networks Predict Earlier Improvement of Dystonia Following Globus Pallidus Internus‐Deep Brain Stimulation (GPi‐DBS)

Movement Disorders, EarlyView.
Early improvement of dystonia after globus pallidus internus‐deep brain stimulation (GPi‐DBS) is associated with stimulation of the globus pallidus externus‐subthalamic nucleus (GPe‐STN) fibers and the lenticular fasciculus. Functional connectivity to the cerebellar cortex and the limbic and default mode networks predict early improvement of symptoms ...
A. Enrique Martinez‐Nunez, Vyshak Chandra, Chance R. Fleeting, Aashay Patel, Kelly D. Foote, Justin D. Hilliard, Marta San Luciano Palenzuela, Coralie de Hemptinne, Michael S. Okun, Joshua K. Wong   +9 more
wiley   +1 more source

Painful Paroxysmal Dystonia as a Revealing Symptom of Multiple Sclerosis: A Case Report and Literature Review. [PDF]

Cureus
Mabrouki FE, Yousfi S, Elhasnaoui S, Mebrouk Y.   +3 more
europepmc   +1 more source

Association of alcohol responsiveness and non-motor symptoms in isolated adult-onset dystonia. [PDF]

J Neurol
Junker J, Berman BD, König IR, Vidailhet M, Roze E, Perlmutter JS, Jinnah HA, Brüggemann N, Dystonia Coalition Investigators.   +8 more
europepmc   +1 more source

Bradykinesia induced by pallidal neurostimulation in dystonia: clinical risk factors and anatomical mapping. [PDF]

NPJ Parkinsons Dis
Lange F, Guarin DL, Mosert S, Karrasch B, Roothans J, Weigl B, Navratil P, Daniels C, Odorfer T, Brandt G, Mahlknecht P, Krauss JK, Runge J, Kühn AA, Deuschl G, Volkmann J, Peach R, Reich MM.   +17 more
europepmc   +1 more source

VPS13A Deficiency Leads to Impaired Lipid Distribution and Alteration of Mitochondrial Calcium Homeostasis in Fibroblasts of VPS13A Disease Patients

Movement Disorders, EarlyView.
Abstract Background Membrane contact sites are crucial for the exchange of ions or lipids and thus are critical for the function and maintenance of organelles. VPS13A is a membrane‐residing, bridge‐like protein connecting two membranes to enable bulk lipid transfer. Loss‐of‐function mutations in the VPS13A gene cause VPS13A disease.
Dajana Grossmann, Adrian Spranger, Emily Fischer, Johanna W. Schubarth, Jenny Leopold, Hannes Glaß, Sebastian Klicker, My Uyen Dang Thi, Anna Elisabeth Bartalis, Andreas Hermann, Kevin Peikert   +10 more
wiley   +1 more source

Peripherally Induced Oromandibular Dystonia Following Orthognathic Surgery. [PDF]

Cureus
Yoshida K.
europepmc   +1 more source