Results 101 to 110 of about 80,232 (259)

Video-Based Kinematic Analysis of Movement Quality in a Phase 3 Clinical Trial of Troriluzole in Adults with Spinocerebellar Ataxia: A Post Hoc Analysis

Neurology and Therapy
Introduction Traditional methods for assessing movement quality rely on subjective standardized scales and clinical expertise. This limitation creates challenges for assessing patients with spinocerebellar ataxia (SCA), in whom changes in mobility can be
Gilbert J. L’Italien, Evangelos K. Oikonomou, Rohan Khera, Michele H. Potashman, Melissa W. Beiner, Grant D. H. Maclaine, Jeremy D. Schmahmann, Susan Perlman, Vladimir Coric   +8 more
doaj   +1 more source

XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia [PDF]

, 2016
XRCC1 is a molecular scaffold protein that assembles multi-protein complexes involved in DNA single-strand break repair1,2. Here we show that biallelic mutations in the human XRCC1 gene are associated with ocular motor apraxia, axonal neuropathy, and ...
A Chiarugi, C Breslin, C Breslin, C Marras, C Poulton, D Pinkel, E Cappelli, Emilia Komulainen, Grace Yoon, Grazia M. S. Mancini, H Takashima, Hana Hanzlikova, J Bras, J Shen, Justin D. Wagner, Keith W. Caldecott, Kevin Staras, KW Caldecott, KW Caldecott, KW Caldecott, LE Dillehay, Limei Ju, M Tetreault, Martine Tétreault, MC Moreira, MJ Eliasson, MO Bradley, Nicolas C. Hoch, P Mali, Peter Hornyak, Peter J. McKinnon, RS Tebbs, RS Tebbs, S Katyal, SF El-Khamisy, Stephanie A. Rey, Stuart L. Rulten, William Gittens, Y Fu, Y Lee, Zhao-Qi Wang, Zhihong Zeng, ZQ Wang   +42 more
core   +2 more sources

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Enhancing Balance and Coordination in Alcohol-Induced Cerebellar Ataxia: A Case Study

RGUHS Journal of Physiotherapy
Alcohol-induced cerebellar ataxia ACA is a common acquired ataxia characterized by cerebellar degeneration resulting from long-term exposure to alcohol. However the role of physiotherapy in the treatment of ACA is unclear. The aim of
Samuel SE, Haripriya S, Dhanawade SA
doaj   +1 more source

Two New Cases of Uner Tan Syndrome: One Man\ud with Transition from Quadrupedalism to Bipedalism;\ud One Man with Consistent Quadrupedalism [PDF]

, 2010
Background: Uner Tan syndrome, first described in\ud 2005, consists of three main symptoms: habitual\ud locomotion on all four extremities, impaired\ud intelligence, and dysarthric or no speech.
Tan, Prof. Dr. Uner
core  

DNA repair: Disorders [PDF]

, 2010
No description ...
Bose, Burg, Caldecott, Chu, Digweed, Fernandez-Capetillo, Fousteri, Fousteri, Friedberg, Gudmundsdottir, Hashimoto, Hoeijmakers, Jiricny, Kraemer, Lavin, Lehmann, Lieber, Ma, Masutani, McCulloch, Meindl, Moldovan, Moshous, Nance, Nouspikel, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, Rass, Stefanini, Stewart, Stracker, Taylor, Vaz, Wu, Zlatanou   +36 more
core   +1 more source

Absence seizures: Update on signaling mechanisms and networks

Epilepsia Open, EarlyView.
Abstract Absence seizures (AS) are a hallmark of genetic generalized epilepsies (GGE), characterized by brief episodes of impaired consciousness accompanied by electroencephalographic spike‐and‐wave discharges (SWDs). Traditionally attributed to cortico‐thalamo‐cortical (CTC) dysrhythmia, emerging evidence suggests a more intricate pathophysiological ...
Ozlem Akman, Filiz Onat
wiley   +1 more source

Sialidosis type I: How to alleviate disabling myoclonic seizures?—A multicenter analysis of eight cases and review of the literature

Epilepsia Open, EarlyView.
Abstract Objective Sialidosis type I (ST‐1) is an autosomal‐recessive, very rare, progressive lysosomal storage disorder caused by pathogenic variants in NEU1. It is clinically characterized by progressive ataxia, myoclonic seizures (MS), bilateral tonic–clonic seizures (BTCS), and distinctive ophthalmological findings.
Janina Gburek‐Augustat, I‐Chun Lee, Marica Rubino, Vehap Topçu, Melissa Chavez‐Castillo, Shao Ching Tu, Marwan Shinawi, Isabel Alfradique‐Dunham, Manouela Valtcheva, Astrid Adarmes‐Gómez, Daniel Macias‐Garcia, Laura Laura Muñoz‐Delgado, Silvia Jesús, Pablo Mir, Andreas Merkenschlager, Antonietta Coppola   +15 more
wiley   +1 more source

Acute cerebellar ataxia: differential diagnosis and clinical approach

Arquivos de Neuro-Psiquiatria
Cerebellar ataxia is a common finding in neurological practice and has a wide variety of causes, ranging from the chronic and slowly-progressive cerebellar degenerations to the acute cerebellar lesions due to infarction, edema and hemorrhage, configuring
José Luiz Pedroso, Thiago Cardoso Vale, Pedro Braga-Neto, Lívia Almeida Dutra, Marcondes Cavalcante França Jr, Hélio A. G. Teive, Orlando G. P. Barsottini   +6 more
doaj   +1 more source

Brain Metastases From Differentiated Thyroid Cancer in the Era of Targeted Therapies: A Multi‐Center Retrospective Cohort

Head &Neck, EarlyView.
ABSTRACT Background Brain metastases (BM) of differentiated thyroid carcinoma (DTC) are associated with unfavorable prognosis. This study evaluated BM management strategies and patients' outcomes. Methods A retrospective review of patients diagnosed with DTC and BM at Tel Aviv Sourasky and Rabin Medical Centers between 1985 and 2024. Clinical features,
Liyona Kampel, Shaun Edalati, Eyal Yosefof, Anton Warshavsky, Gilad Horowitz, Nidal Muhanna, Hagit Shoffel‐Havakuk, Eyal Robenshtok, Aron Popovtzer, Inbar Finkel   +9 more
wiley   +1 more source