Results 101 to 110 of about 81,579 (355)

Pitfall of false localization in basal temporal epilepsy: A clinical vignette

Epileptic Disorders, EarlyView.
Mathieu Dhoisne, Romain Carron, Fabrice Bartolomei, Stanislas Lagarde   +3 more
wiley   +1 more source

High Genetic Diagnostic Yield for Patients with Rare Movement Disorders at a Single‐Center Neurogenetics Clinic

Movement Disorders Clinical Practice, EarlyView.
Abstract Background As advanced molecular testing is incorporated into routine clinical practice, accessibility and yield remain limited. Objectives We propose a simplified and effective workup strategy to maximize diagnostic yield based on presented diagnostic yield of rare movement disorders at a tertiary Neurogenetics Clinic.
Dvir Penn, Yam Amir, Gil Ben David, Alina Kurolap, Dalit Barel, Uri Hamiel, Michal Bach, Emil Elhanan, Tali Barkan, Daphna Marom, Adi Mory, Noga Simantov, Gadi Maayan Eshed, Achinoam Faust‐Socher, Vered Livneh, Avner Thaler, Nurit Omer, Tamara Shiner, Nir Giladi, Tanya Gurevich, Hagit Baris Feldman, Roy N. Alcalay, Yuval Yaron, Penina Ponger   +23 more
wiley   +1 more source

Clinical response to placebo botulinum toxin injection in cervical dystonia—a systematic review and meta-analysis

Dystonia
BackgroundCervical dystonia is the most common form of focal dystonia and is the most studied neurological condition in patients receiving botulinum toxin.
Emma Wetmore, Henry Roberts, Alicia A. Livinski, Terance Camacho, Chyanne Eaton, Gina Norato, Mark Hallett, Mark Stacy   +7 more
doaj   +1 more source

A role for cerebellum in the hereditary dystonia DYT1

eLife, 2017
DYT1 is a debilitating movement disorder caused by loss-of-function mutations in torsinA. How these mutations cause dystonia remains unknown. Mouse models which have embryonically targeted torsinA have failed to recapitulate the dystonia seen in patients,
Rachel Fremont, Ambika Tewari, Chantal Angueyra, K. Khodakhah   +3 more
semanticscholar   +1 more source

Parkinsonism and Dystonia Are Prevalent and Concomitant Movement Disorders in a Cohort of Patients with Rett Syndrome

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Rett syndrome (RTT) is a rare neurodevelopmental disorder linked with MECP2 variants, frequently presenting with movement disorders (MDs). Objectives This study examined the frequency, types, and associations of MDs with RTT characteristics and severity.
Silvia Boeri, Giulia Prato, Maria Grazia Calevo, Silvia Casabona, Lino Nobili, Elisa De Grandis   +5 more
wiley   +1 more source

Cerebellar contributions to dystonia: unraveling the role of Purkinje cells and cerebellar nuclei

Dystonia
Dystonias are a group of neurodegenerative disorders that result in altered physiology associated with motor movements. Both the basal ganglia and the cerebellum, brain regions involved in motor learning, sensory perception integration, and reward, have ...
Nichelle N. Jackson, Jacob A. Stagray, Heather D. Snell, Heather D. Snell   +3 more
doaj   +1 more source

Editorial: Models, mechanisms, and maturation in developmental dystonia

Dystonia, 2023
Jason S. Gill, Jason S. Gill, Jason S. Gill, Meike E. van der Heijden, Meike E. van der Heijden, Aasef G. Shaikh, Roy V. Sillitoe, Roy V. Sillitoe, Roy V. Sillitoe, Roy V. Sillitoe, Roy V. Sillitoe   +10 more
doaj   +1 more source

Subtle changes in Purkinje cell firing in Purkinje cell-specific Dyt1 ΔGAG knock-in mice

Dystonia
DYT1 dystonia is an inherited early-onset generalized dystonia characterized by sustained muscle contractions causing abnormal, repetitive movements or postures.
Hong Xing, Pallavi Girdhar, Yuning Liu, Fumiaki Yokoi, David E. Vaillancourt, Yuqing Li   +5 more
doaj   +1 more source

Differential Effects of Levodopa and Stimulation on Post‐Surgery Freezing of Gait in Subthalamic Nucleus Deep Brain Stimulation Parkinson's Disease Patients: A Clinical and Kinematic Analysis

Movement Disorders Clinical Practice, EarlyView.
Abstract Background The long‐term efficacy of high‐frequency subthalamic nucleus deep brain stimulation (STN‐DBS) on freezing of gait (FOG) remains unclear. We aimed to study the mechanism and optimal therapeutic approach to long‐term post‐surgery FOG.
Raquel Barbosa, Paulo Bastos, Patrícia Pita Lobo, Catarina Correia Rodrigues, Anabela Valadas, Leonor Correia Guedes, Beatriz Mano, Sara Alberto, Vitor Paixão, Mário Miguel Rosa, Ricardo Matias, Daniel Martins, Marcelo Mendonça, Miguel Coelho   +13 more
wiley   +1 more source

Molecular mechanisms in DYT-PRKRA: pathways regulated by PKR activator protein PACT

Dystonia
Dystonia-PRKRA (DYT-PRKRA), previously termed dystonia 16 (DYT16), is a movement disorder which currently has very limited treatments available and no cure.
Tricia A. Simon, Rekha C. Patel
doaj   +1 more source