Results 301 to 310 of about 1,639,589 (408)

Deep Brain Stimulation Improves Symptoms in an Individual with Alpha‐Synuclein‐Gene‐Associated Parkinson's Disease

Movement Disorders Clinical Practice, EarlyView.
Abigail Braun, Dion Basson, Shahida Moosa, Jonathan Carr, Soraya Bardien, Riaan van Coller   +5 more
wiley   +1 more source

Genetic Risk Factors in Normal Pressure Hydrocephalus: What We Know and What Is Next

Movement Disorders, EarlyView.
Abstract Knowledge of the genetic factors in normal pressure hydrocephalus (NPH) is rapidly evolving, with significant advances in recent years. We conducted a systematic review examining genetic contributions to NPH risk. Ovid Embase, Ovid Medline, Web of Science, and Cochrane Central were searched from inception through October 14, 2024, for human ...
Camila C. Piccinin, Saar Anis, Jeryl Ritzi T. Yu, Philippe A. Salles, Henry Mauricio Chaparro‐Solano, Avery Kundrick, Shelley Ivary, James Y. Liao, Sean J. Nagel, Ignacio F. Mata   +9 more
wiley   +1 more source

Early increase of the synaptic blood marker β-synuclein in asymptomatic autosomal dominant Alzheimer's disease. [PDF]

Alzheimers Dement
Oeckl P, Mayer B, Bateman RJ, Day GS, Fox NC, Huey ED, Ibanez L, Ikeuchi T, Jucker M, Lee JH, Levin J, Llibre-Guerra JJ, Lopera F, McDade E, Morris JC, Niimi Y, Roh JH, Sánchez-Valle R, Schofield PR, Otto M, Dominantly Inherited Alzheimer Network.   +20 more
europepmc   +1 more source

RNA Interference Prevents Autosomal-Dominant Hearing Loss

American Journal of Human Genetics, 2016
S. B. Shibata, Paul T Ranum, Hideaki Moteki, B. Pan, Alexander T. Goodwin, S. Goodman, P. Abbas, J. R. Holt, Richard J. H. Smith   +8 more
semanticscholar   +1 more source

Autosomal dominant syndrome with strokelike episodes and leukoencephalopathy.

, 1991
Elisabeth Tournier‐Lasserve, M T Iba-Zizen, Nicolás Romero, M G Bousser   +3 more
openalex   +1 more source

Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase

Movement Disorders, EarlyView.
Abstract Background Defects of mitochondrial ATP synthase (ATPase) represent an emerging, yet incompletely understood group of neurodevelopmental diseases with abnormal movements. Objective The aim of this study was to redefine the phenotypic and mutational spectrum of movement disorders linked to the ATPase subunit‐encoding genes ATP5F1A and ATP5F1B ...
Philip Harrer, Magdalena Krygier, Martin Krenn, Volker Kittke, Martin Danis, Georgi Krastev, Alice Saparov, Virginie Pichon, Marlène Malbos, Clarisse Scherer, Ivana Dzinovic, Matej Skorvanek, Robert Kopajtich, Holger Prokisch, Sara Silvaieh, Anna Grisold, Maria Mazurkiewicz‐Bełdzińska, Jean‐Madeleine de Sainte Agathe, Juliane Winkelmann, Jan Necpal, Robert Jech, Michael Zech   +21 more
wiley   +1 more source

Characterization of quinazolinone calcilytic therapy for autosomal dominant hypocalcemia type 1 (ADH1). [PDF]

J Biol Chem
Hannan FM, Kooblall KG, Stevenson M, Elajnaf T, Liu F, Lines KE, Meng X, Stewart M, Wells S, Nemeth EF, Shoichet BK, Kneissel M, Gasser JA, Thakker RV.   +13 more
europepmc   +1 more source

Retinal Function and Rhodopsin Levels in Autosomal Dominant Retinitis Pigmentosa With Rhodopsin Mutations

, 1991
Samuel G. Jacobson, C.M. Kemp, Ching-Hwa Sung, Jeremy Nathans   +3 more
openalex   +1 more source

Stroke Mimicking Thalamotomy in Primary Familial Brain Calcification

Movement Disorders Clinical Practice, EarlyView.
Jaakko Kungshamn, Emma Ottela, Olli Likitalo, Anna Brück, Juho Joutsa   +4 more
wiley   +1 more source

Development and Preliminary Validation of a Parkinsonism‐Dystonia Scale for Infants and Young Children

Movement Disorders, EarlyView.
Abstract Background Parkinsonism in infancy is rare and is highly correlated with the presence of dystonia. Advances in treating and characterizing developmental and infantile degenerative parkinsonism have highlighted the need for a specialized assessment scale.
Roser Pons, Toni S. Pearson, Belen Perez‐Dueñas, Angels Garcia‐Cazorla, Manju A. Kurian, Zoi Dalivigka, Vasiliki Zouvelou, Chrysa Outsika, Eleftheria Kokkinou, Maria Sigatullina‐Bondarenko, Alejandra Darling, Maria del Mar O'Callaghan, Robert Spaull, Dora B.D. Steel, Evdokia Salamou, Maria João Forjaz, Carmen Rodriguez‐Blazquez   +16 more
wiley   +1 more source