Results 81 to 90 of about 36,341 (274)

Expanding the Genetic and Phenotypic Spectrum of DYT‐VPS16: The Importance of Splice‐Site Variants

Movement Disorders, EarlyView.
Abstract Background DYT‐VPS16, an early‐onset isolated dystonia caused by variants in the VPS16 gene, has been reported in fewer than 70 patients. Methods We explored the clinical and genotypic spectrum of DYT‐VPS16 by investigating early‐onset dystonia patients with VPS16 variants discovered in our large Biodatabank and through gene‐matching ...
Ana Westenberger, Edgard Verdura, Mandy Radefeldt, Leslie E. Sanderson, Kornelia Tripolszki, Anna Marcé‐Grau, Ana Cazurro‐Gutiérrez, Anita Nikoncuk, Rebecca Herzog, Ruslan Al‐Ali, Mariana Ferreira, Ligia S. Almeida, Tainá Regina Damaceno Silveira, Suliman Khan, Raphael Doyle Maia, Péter Klivényi, András Salamon, Volkan Baltaci, Asli Subasioglu, Jeanette Prada‐Arismendy, Goran Čuturilo, Sebastian Loens, Vera Tadic, Isabelle Maystadt, Deniz Karadurmus, Barbara Leube, Jonathan De Winter, Alice Monticelli, Liesbeth De Waele, Jonathan Baets, Mateja Vinkšel, Aleš Maver, Lorena Tschopp, Gabriela Ziegler, Ana Sanguinetti, Katja Lohmann, Tahsin Stefan Barakat, Peter Bauer, Belén Perez‐Dueñas, Aida M. Bertoli‐Avella   +39 more
wiley   +1 more source

Baclofen-induced neurotoxicity in a dialysis patient managed with continuous venovenous hemodialysis: A case report and literature review

Turkish Journal of Emergency Medicine
Despite documented cases of baclofen toxicity in individuals with kidney disease, the drug is widely prescribed for various medical conditions, primarily spasticity, hiccups, and multiple sclerosis.
Nejah F. Ellouze, Darpanarayan Hazra, Suad Al Abri   +2 more
doaj   +1 more source

Polyelectromyography Under Propofol to Differentiate Functional from Idiopathic Dystonia: A Pilot Study

Movement Disorders, EarlyView.
Abstract Background Functional dystonia (FD) is one of the most diagnostically challenging functional movement disorders. Phenomenological features often lack specificity, as many are also observed in idiopathic dystonia (ID) and validated biomarkers to distinguish FD from ID are currently unavailable Objective To investigate potential differences in ...
Roberto Eleopra, Fabio Paio, Sara Rinaldo, Carla Carozzi, Amanda Oriana, Grazia Devigili, Luigi Michele Romito, Roberto Cilia, Nico Golfrè Andreasi, Gianfranco Gaudiano, Marta Corradi, Antonio Emanuele Elia, Fabiana Colucci, Arianna Braccia, Roberta Telese, Michele Tinazzi, Marco Gemma, Valentina Leta   +17 more
wiley   +1 more source

GABA-B receptor function in healthy volunteers, a pharmacokinetic and pharmacodynamic study of two doses of baclofen compared to placebo [PDF]

, 2015
AIMS AND HYPOTHESIS To assess the subjective and objective effects of baclofen on brain function in healthy volunteers. BACKGROUND Recent evidence suggests baclofen, a γ-aminobutyric acid type B (GABA-B) receptor agonist, reduces alcohol consumption ...
Cordero, R, Durant, C, Lingford-Hughes, A, Nahar, L, Nutt, D, Paterson, S, Turton, S, Wilson, S   +7 more
core  

Neurons and circuits for odor processing in the piriform cortex [PDF]

, 2013
Increased understanding of the early stages of olfaction has lead to a renewed interest in the higher brain regions responsible for forming unified ‘odor images’ from the chemical components detected by the nose.
Bekkers, John MacDonald, Suzuki, Norimitsu   +1 more
core   +1 more source

Neurobiologische Korrelate der Belohnungs- und Suchtreizverarbeitung im Rahmen der Alkoholabhängigkeit und deren pharmakologische Modifikation mit Baclofen [PDF]

, 2020
Hintergrund: In der Erforschung alkoholbezogener psychischer Störungen konnte festgestellt werden, dass eine veränderte neurobiologische Verarbeitung des mesokortikolimbischen dopaminergen Systems, des sogenannten Belohnungssystems, vorliegt.
Pelz, Patricia
core   +1 more source

Pallidal Evoked Resonant Neural Activity as a Candidate Biomarker for Deep Brain Stimulation in Dystonia

Movement Disorders, EarlyView.
Abstract Background Deep brain stimulation (DBS) targeted to the globus pallidus (GP) can effectively alleviate dystonia symptoms. However, identifying optimal therapeutic stimulation parameters is challenging due to the manual programming process and the paucity of acute effects of DBS on dystonia symptoms.
Kara A. Johnson, Patricia B. Coutinho, Filipe P. Sarmento, Elizabeth Vo, Joshua K. Wong, Justin D. Hilliard, Kelly D. Foote, Coralie de Hemptinne   +7 more
wiley   +1 more source

Weathering the storms of climate change: Preparing persons with disabilities and the physiatrists who provide their care for extreme hurricanes

PM&R, EarlyView.
Abstract Climate‐driven disasters have disproportionate and often devastating consequences on individuals with disabilities. Warming ocean and air temperatures are fueling more extreme tropical cyclones, further endangering those living in at‐risk regions.
Mollie Andreae, James M. Shultz, J. Marshall Shepherd, Zelde Espinel, Lauren T. Shapiro   +4 more
wiley   +1 more source

Severe, Protracted Spasm of Urinary Bladder and Autonomic Dysreflexia Caused by Changing the Suprapubic Catheter in a Cervical Spinal Cord Injury Patient: Treatment by a Bolus Dose and Increased Total Daily Dose of Intrathecal Baclofen

Clinical Medicine Insights: Case Reports, 2016
Background Intrathecal administration of baclofen by implanted pump reduces rigidity and muscle spasms. Its use specifically to control bladder spasms has not been reported.
Subramanian Vaidyanathan, Tun Oo, Bakul M. Soni, Peter L. Hughes, Gurpreet Singh   +4 more
doaj   +1 more source

GABA-B controls persistent Na+ current and coupled Na+-activated K+ current [PDF]

, 2017
The GABA-B receptor is densely expressed throughout the brain and has been implicated in many CNS functions and disorders, including addiction, epilepsy, spasticity, schizophrenia, anxiety, cognitive deficits, and depression, as well as various aspects ...
Butler, Alice, Gonzalez-Cota, Ana Laura, Harmon, Steve, Li, Ping, Salkoff, Lawrence, Stewart, Richard   +5 more
core   +2 more sources