Results 91 to 100 of about 27,582 (263)

Missense Variants in the A Isoform of FGF13 as a Novel Cause of Paroxysmal Dyskinesia

Movement Disorders, EarlyView.
Abstract Background Pathogenic variants within the unique N‐terminal inactivation particle of FGF13 isoform A (FGF13A) have so far been associated only with an X‐linked dominant epileptic encephalopathy (DEE). Objective The aim was to expand the clinical and molecular spectrum of FGF13A‐related disorder.
Cyril Mignot, Matthildi Athina Papathanasiou Terzi, Claudia Ravelli, Elisabeth Bosch, Xueqin Lin, Adeline Trauffler, Roseline Caumes, Andrew E. Fry, Clementine Fort, Gaelle Gauthe, Regina Trollmann, Thomas Wirth, Mathieu Anheim, Aurélie Méneret, Emmanuel Roze, Jean‐Madeleine de Sainte Agathe, Hailan He, Eleni Panagiotakaki, Gaëtan Lesca, André Reis, Diane Doummar, Thomas Smol, Georgia Vasileiou   +22 more
wiley   +1 more source

A Rare Case of Chorea Gravidarum

, 2010
Chorea Gravidarum is the term given to chorea occurring during pregnancy. It is not an etiologically or pathologically distinct morbid entity but generic term for chorea of any etiology.
Madhuri Gawande, Sunita Ghike, Sheela Jain   +2 more
core   +1 more source

Aspirin in Chorea [PDF]

The American Journal of the Medical Sciences, 1904
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openaire   +1 more source

Reduced Dopamine Transporter Uptake in Dentatorubral‐Pallidoluysian Atrophy

Movement Disorders Clinical Practice, EarlyView.
Kei Okuba, Shugo Fujita, Hitoshi Kawasaki, Genko Oyama   +3 more
wiley   +1 more source

Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4

Movement Disorders, EarlyView.
Abstract Background SRRM4 is an exclusively neural‐expressed splicing‐factor gene not yet associated with a monogenic condition. Objective We sought to delineate movement disorders caused by SRRM4 variants. De novo splice‐donor‐site variants at position +2 of intron 5 of SRRM4 (c.464+2T>C, c.464+2T>A) occurred in three unrelated patients with dystonia ...
Philip Harrer, Volker Kittke, Alice Saparov, Alexej Knaus, Shimriet Zeidler, Rachel Schot, Florian Kraft, Matthias Begemann, Suzanna Koudijs, Ugo Sorrentino, Chen Zhao, Ivana Dzinovic, Martin Pavlov, Elisabeth Graf, Antonia M. Stehr, Peter M. Krawitz, Christian Wilhelm, Saskia Biskup, Fahd Alsalloum, Steffen Berweck, Juliane Winkelmann, Konrad Oexle, Ingo Kurth, G. Christoph Korenke, Michael Zech   +24 more
wiley   +1 more source

POLG‐Related Parkinsonism with Good Response to Deep Brain Stimulation

Movement Disorders Clinical Practice, EarlyView.
Evdokia Efthymiou, Fabian Büchele, Sujitha Mahendran, Lennart Stieglitz, Bettina Balint   +4 more
wiley   +1 more source

Central Nervous System Tumors in Xeroderma Pigmentosum: Five Cases and Review of the Literature

Movement Disorders, EarlyView.
Abstract Background Xeroderma pigmentosum (XP) is a rare autosomal recessive DNA‐repair disorder characterized by extreme ultraviolet radiation (UVR) sensitivity, markedly increased cutaneous malignancy risk, and progressive neurological disease in approximately one‐third of patients.
Farrah S. Bakr, Huseyin Arisoy, Alan R. Lehmann, Paola Giunti, Hiva Fassihi   +4 more
wiley   +1 more source

Crossed-reflex in antiphospholipid chorea [PDF]

Chorea is a hyperkinetic movement disorder associated with various underlyingconditions, including autoimmune diseases such as antiphospholipid syndrome (APS). APS can manifest with a wide range of neurological symptoms, including chorea.
Pérez-Pérez, Jesús, Kulisevsky, Jaime, Fernández-Vidal, Joan Miquel, Universitat Autònoma de Barcelona, Querol, Luis, Olmedo-Saura, Gonzalo   +5 more
core   +1 more source

Distinct Brain Drivers and Shared Cerebello–Cortical Input in ADCY5 and SGCE Hyperkinetic Movements

Movement Disorders, EarlyView.
Resting‐state fMRI and effective connectivity revealed distinct cerebellar–basal ganglia–cortical interactions in ADCY5 (MxMD‐ADCY5) and SGCE (MYC/DYT‐SGCE) related movement disorders. The cerebellum modulated cortex directly in MYC/DYT‐SGCE, but indirectly via basal ganglia‐cerebellar projections in MxMD‐ADCY5, which also showed reduced subthalamic ...
Clément Tarrano, Cécile Galléa, Asya Ekmen, Cécile Delorme, Eavan M. McGovern, Quentin Salardaine, Lina Daghsen, Manon Gomes, Vanessa Brochard, Eoin Mulroy, Kailash P. Bhatia, Carlo Fusco, Miryam Carecchio, Norbert Brüggemann, Alexander Münchau, Victoria Gonzalez, Diane Doummar, Christine Tranchant, Mathieu Anheim, Philippe Damier, Florence Riant, Mohamed Doulazmi, Agathe Roubertie, Caroline Dubacq, Oriane Trouillard, Romain Valabregue, Mélanie Didier, Benoit Beranger, Pierre Pouget, Marie Vidailhet, Sabine Meunier, Aurélie Méneret, Yulia Worbe, Emmanuel Roze   +33 more
wiley   +1 more source

Chorea-acanthocytosis: a case report

, 2016
Lekhjung Thapa,1 Suman Bhattarai,1 Milan P Shrestha,1 Rajesh Panth,2 Dinesh Nath Gongal,3 Upendra Prasad Devkota,31Department of Neurology, 2Department of Pathology, 3Department of Neurosurgery, National Institute of Neurological and Allied Sciences ...
Shrestha MP, Thapa L, Devkota UP, Bhattarai S, Gongal DN, Panth R   +5 more
core