Results 111 to 120 of about 50,686 (311)

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

‘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

Polycythemia Vera Presenting with Generalized Chorea: A Case Report and Review of the Literature [PDF]

, 2014
Sun Woong Kim, Hyung Min Yu, Yoon Jeong Lee, Han Jo Kim, Mina Hur, Mark Hong Lee   +5 more
openalex   +1 more source

Hyperglycemic chorea

Oxford Medical Case Reports, 2021
Tokio Sasaki, Yuji Suzuki, Mitsunobu Sato   +2 more
openaire   +2 more sources

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

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

Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms. [PDF]

, 2008
OBJECTIVE: To identify factors that determine disease severity and clinical phenotype of the most common spinocerebellar ataxias (SCAs), we studied 526 patients with SCA1, SCA2, SCA3. or SCA6.
Baliko L, Bauer P, Boesch S, Charles P, Coudert M, Depondt C, di Donato S, du Montcel ST, Döhlinger S, Dürr A, Fancellu R, FILLA, ALESSANDRO, Giunti P, Globas C, Infante J, Kang JS, Klockgether T., Kremer B, Mariotti C, Melegh B, Pandolfo M, Rakowicz M, Ribai P, Rola R, Schmitz Hübsch T, Schöls L, Stephenson DA, Szymanski S, Timmann D, van de Warrenburg BP, Zdienicka E   +30 more
core  

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

Clinical Genetics, EarlyView.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, Ilana Livyatan, Israel Altman, Shiri Gershon, Jonathan Rips, Hagit Daum, Chaggai Rosenbluh, Orly Elpeleg, Vardiella Meiner, Ayala Frumkin, Hagar Mor‐Shaked, Tamar Harel   +13 more
wiley   +1 more source

Case of Chorea with no Improvement after Eighteen Months' Treatment [PDF]

, 1925
W. R. Reynell
openalex   +1 more source

Severity‐Based and Family‐Centered Approaches to Deep Brain Stimulation in GNAO1‐Related Disorders

Movement Disorders Clinical Practice, EarlyView.
Jana Domínguez‐Carral, Juan Darío Ortigoza‐Escobar   +1 more
wiley   +1 more source