Results 121 to 130 of about 123,648 (399)

A digital patient-centered outcome tool for cervical dystonia

Dystonia
IntroductionTo establish clinical trial readiness for dystonia, a crucial step is to develop a Patient-Centered Outcome (PCO) measure to capture therapeutic response in focal dystonia such as in cervical dystonia (CD).
Sarah Pirio Richardson, Brian D. Berman, Janet Hieshetter, Cynthia Comella, David A. Peterson, Gamze Kilic-Berkmen, Laura Wright, Samantha Pentecost, Paul Reyes, Joseph Jankovic, Charles H. Adler, Marina A. J. Tijssen, Teresa J. Kimberley, Monika Benson, Joel S. Perlmutter, Fares Qeadan, H. A. Jinnah   +16 more
doaj   +1 more source

Symptomatic treatment of children with anti-NMDAR encephalitis. [PDF]

, 2016
AIM: We performed the first study on the perceived benefit and adverse effects of symptomatic management in children with anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis.
Brilot, F, Dale, R. C., Hong, M, Jones, H, Mohammad, Ss, Nosadini, M, Pillai, Sc, Sharpe, C   +7 more
core   +1 more source

Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions

PLoS Genetics, 2018
Dystonia is characterized by involuntary muscle contractions. Its many forms are genetically, phenotypically and etiologically diverse and it is unknown whether their pathogenesis converges on shared pathways.
Z. Zakirova, T. Fanutza, J. Bonet, B. Readhead, Weijia Zhang, Z. Yi, Geneviève Beauvais, T. Zwaka, L. Ozelius, R. Blitzer, P. Gonzalez-Alegre, M. Ehrlich   +11 more
semanticscholar   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]

, 2013
Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui, Ptáček, Louis J, Russell, Jonathan F   +2 more
core   +2 more sources

Detection of focal impaired awareness seizures using a biometric shirt

Epilepsia Open, EarlyView.
Abstract Objective In recent years, seizure detection using wearable technology has gained significant attention in research. Most studies, however, have focused on detecting generalized or focal to bilateral tonic–clonic seizures. This study evaluates the feasibility of using a biometric shirt to detect focal impaired awareness seizures (FIAS) by ...
Jérôme St‐Jean, Oumayma Gharbi, Dènahin Hinnoutondji Toffa, Thi Phuoc Yen Tran, Manon Robert, Dang Khoa Nguyen, Elie Bou Assi   +6 more
wiley   +1 more source

Behavioral signature of trihexyphenidyl in the TOR1A (DYT1) knockin mouse model of dystonia

Dystonia
Dystonia is a neurological disorder characterized by involuntary repetitive movements and abnormal postures. Animal models have played a pivotal role in studying the pathophysiology of dystonia.
Ahmad Abdal Qader, Yuping Donsante, Jeffrey E. Markowitz, H. A. Jinnah, H. A. Jinnah, Chethan Pandarinath, Chethan Pandarinath, Ellen J. Hess, Ellen J. Hess   +8 more
doaj   +1 more source

Epilepsy surgery: From bench to the clinics

Epilepsia Open, EarlyView.
Abstract Objective Recent advances in epilepsy surgery in patients with intractable epilepsy make it possible to study the mechanism of epilepsy in human brains. However, the true extent and propagation of each epileptogenic area from the epileptogenic focus in each patient is still difficult to perform “epilepsy cure” by surgery.
Tatsuya Tanaka
wiley   +1 more source

Maladaptive plasticity in levodopa-induced dyskinesias and tardive dyskinesias: old and new insights on the effects of dopamine receptor pharmacology. [PDF]

, 2014
Maladaptive plasticity can be defined as behavioral loss or even development of disease symptoms resulting from aberrant plasticity changes in the human brain.
Ahmed, Ananth, Aron, Aron, Baldessarini, Breakefield, Brooks, Byl, Calabresi, Calabresi, Carta, Casey, Casey, Castrén, Cenci, Cenci, Cerasa, Cerasa, Cerasa, Cerasa, Cerasa, Clarke, Crow, Crow, de la Fuente-Fernandez, de la Fuente-Fernandez, Fahn, Ganos, Gottwald, Heckers, Jankovic, Jellinger, Jenner, Kishore, Kishore, Koch, Koch, Koch, Li, Marsden, McEwen, Morgante, Nambu, Obeso, Pakkenberg, Peralta, Picconi, Quartarone, Rascol, Rylander, Salgado-Pineda, Sawada, Sgambato-Faure, Sigwald, Spencer, Teo, Vernon, Vernon, Zesiewicz   +58 more
core   +2 more sources