Results 211 to 220 of about 79,478 (306)

Clinical, Radiological, and Genetic Profiles of Eight Patients with Combined Dystonic Manifestation of Type-III GM1 Gangliosidosis: A Video Case Series from India. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Roy S, Arora C, Holla VV, Prasad S, Phulpagar P, Kamble N, Muthusamy B, Saini J, Yadav R, Pal PK.   +9 more
europepmc   +1 more source

Metabolic and Volumetric Alterations in the Basal Ganglia and the Cerebellum in Dopa‐Responsive Dystonia in Symptomatic and Asymptomatic GCH1 Mutation Carriers

Movement Disorders, EarlyView.
ABSTRACT Background Dopa‐responsive dystonia is caused by pathogenic variants in the GCH1 gene. Although its clinical features and reduced penetrance are known, in vivo metabolic and structural alterations in symptomatic (sMC) and asymptomatic mutation carriers (aMC) remain poorly understood.
Jannik Prasuhn, Leon van Well, Marta M. Pokotylo, Feline Hamami, Joke‐Lina Aßmann, Katja Lohmann, Maximilian G. Ködderitzsch‐Mertins, Julia Henkel, Jan Uter, Alexander Münchau, Christine Klein, Anne Weissbach, Norbert Brüggemann   +12 more
wiley   +1 more source

A phenomenological approach to spastic movement disorders: an international expert panel consensus. [PDF]

J Neurol
Biering-Sørensen B, Wissel J, Rosales R, Reebye R, Jacinto J, Francisco GE, Sanderson P, Ertzgaard P.   +7 more
europepmc   +1 more source

Botulinum toxin use in patients with neurological disorders: A U.S.‐based claims database analysis

PM&R, EarlyView.
Abstract Background and Objective Real‐world evidence describing long‐term persistency with botulinum toxin (BoNT) therapy is limited. We assessed treatment patterns and persistency with BoNT in clinical practice over 2 years. Design Retrospective, longitudinal, claims database analysis. Setting Medical claims data from the Merative MarketScan database
David M. Simpson, Jonathan Bouchard, Simon Page, Seth Goldfarb, Atul T. Patel   +4 more
wiley   +1 more source

GDF15 - A potential novel biomarker of cognitive impairment in cervical dystonia. [PDF]

Front Neurosci
Drużdż A, Dudzic M, Poszwa J, Rajewska A, Mikołajczak A, Kozubski W, Dorszewska J.   +6 more
europepmc   +1 more source

Polypharmacy among adolescents and adults with cerebral palsy in a clinical setting

PM&R, EarlyView.
Abstract Background Adolescents and adults with cerebral palsy often experience multimorbidity related to their condition, which primarily affects movement and posture but is also associated with pain, epilepsy, mood disorders, and other conditions. As such, these patients are often prescribed a range of medications to manage symptoms, thereby putting ...
Caitlin Cassidy, Joshua C. Wiener, Karen Pratt, Laura Brunton   +3 more
wiley   +1 more source

A New Case of a Neurodevelopmental Disorder and Myoclonic Dystonia Associated with the C.1404del Variant of the <i>ATP5F1A</i> Gene. [PDF]

Int Med Case Rep J
Krastev G, Danis M.
europepmc   +1 more source

Pathogenic Variants in the PRKRA Gene Can Result in a Rapid‐Onset Dystonia‐Parkinsonism‐like Phenotype

Movement Disorders, EarlyView.
Maeve Bradley, Senan Maher, Christian Espinoza‐Vinces, Kathleen Gorman, Tim Lynch, Richard A. Walsh, Alberto J. Espay, Conor Fearon   +7 more
wiley   +1 more source

Non‐epileptic paroxysmal events in Rett syndrome: A systematic review of case‐based and observational evidence

Developmental Medicine &Child Neurology, EarlyView.
This systematic review identifies and categorizes the spectrum of non‐epileptic paroxysmal events in Rett syndrome. Respiratory disturbances, behavioural episodes, and motor events were the most commonly reported. Improving clinician awareness and diagnostic clarity is key to avoiding unnecessary treatment and enhancing quality of life for individuals ...
Natasha Bhatti, Daniel E. Lumsden
wiley   +1 more source