Results 191 to 200 of about 28,987 (259)

Biomarkers of Leucine‐Rich Repeat Kinase 2 (LRRK2) and Lysosomal Dysfunction in Progressive Supranuclear Palsy

Movement Disorders, EarlyView.
Abstract Background Common and rare genetic variants in leucine‐rich repeat kinase 2 (LRRK2) have been linked with sporadic and familial Parkinson's disease (PD). Recently, we discovered that common genetic variation near the LRRK2 locus determined survival in progressive supranuclear palsy (PSP).
Louise‐Kristine Nielsen, Joshua L.I. Frost, David P. Vaughan, Raquel Real, Riona Fumi, Marte Theilmann Jensen, Megan Hodgson, Eleanor J. Stafford, Lesley Wu, Olaf Ansorge, Annelies Quaegebeur, Kieren S.J. Allinson, Thomas T. Warner, Zane Jaunmuktane, Anjum Misbahuddin, P. Nigel Leigh, Boyd C.P. Ghosh, Kailash P. Bhatia, Alistair Church, Christopher Kobylecki, Michele T.M. Hu, James B. Rowe, Alan A. Shomo, Danielle L. Graham, Omar S. Mabrouk, Huw R. Morris, Esther M. Sammler, Edwin Jabbari   +27 more
wiley   +1 more source

Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4

Movement Disorders, EarlyView.
Abstract Background SRRM4 is an exclusively neural‐expressed splicing‐factor gene not yet associated with a monogenic condition. Objective We sought to delineate movement disorders caused by SRRM4 variants. De novo splice‐donor‐site variants at position +2 of intron 5 of SRRM4 (c.464+2T>C, c.464+2T>A) occurred in three unrelated patients with dystonia ...
Philip Harrer, Volker Kittke, Alice Saparov, Alexej Knaus, Shimriet Zeidler, Rachel Schot, Florian Kraft, Matthias Begemann, Suzanna Koudijs, Ugo Sorrentino, Chen Zhao, Ivana Dzinovic, Martin Pavlov, Elisabeth Graf, Antonia M. Stehr, Peter M. Krawitz, Christian Wilhelm, Saskia Biskup, Fahd Alsalloum, Steffen Berweck, Juliane Winkelmann, Konrad Oexle, Ingo Kurth, G. Christoph Korenke, Michael Zech   +24 more
wiley   +1 more source

Understanding emotional influences on sustained attention: a study using virtual reality and neurophysiological monitoring. [PDF]

Front Hum Neurosci
Shen Y, Zheng H, Li Y, Tian X.
europepmc   +1 more source

Indirect Striatal Projection Neurons Drive a D2 Receptor‐Dependent Pathway to Dyskinesia and Dystonia

Movement Disorders, EarlyView.
D2 receptor ablation in indirect‐pathway striatal neurons reduces or abolishes dyskinetic and dystonic behaviors induced by L‐DOPA or D2 receptor agonists, respectively. Contralateral turning is reduced, while forward locomotion is increased. These effects are associated with modulation of neuronal activity in dorsal striatum and external globus ...
Laura Andreoli, Teodor Nyman, Elena Espa, Johan Jakobsson, Osama F. Elabi, Maria Angela Cenci   +5 more
wiley   +1 more source

Characteristics of Poor Recordability of Intraoperative Neurophysiological Monitoring during Metastatic Spinal Tumor Surgery: A Multicenter Study. [PDF]

Spine Surg Relat Res
Segi N, Nakashima H, Funaba M, Hashimoto J, Kawabata S, Takahashi M, Yoshida G, Ushirozako H, Kurosu K, Shigematsu H, Takatani T, Morito S, Yamada K, Iwasaki H, Fujiwara Y, Yasuda A, Ando M, Taniguchi S, Wada K, Tadokoro N, Kobayashi K, Yamamoto N, Nakanishi K, Kanchiku T, Takeshita K, Matsuyama Y, Imagama S.   +26 more
europepmc   +1 more source

Central Nervous System Tumors in Xeroderma Pigmentosum: Five Cases and Review of the Literature

Movement Disorders, EarlyView.
Abstract Background Xeroderma pigmentosum (XP) is a rare autosomal recessive DNA‐repair disorder characterized by extreme ultraviolet radiation (UVR) sensitivity, markedly increased cutaneous malignancy risk, and progressive neurological disease in approximately one‐third of patients.
Farrah S. Bakr, Huseyin Arisoy, Alan R. Lehmann, Paola Giunti, Hiva Fassihi   +4 more
wiley   +1 more source

Intravenous lidocaine infusion therapy and intraoperative neurophysiological monitoring in adolescents undergoing idiopathic scoliosis correction: A retrospective study. [PDF]

Paediatr Anaesth
Bates R, Cave F, West N, Bone JN, Hofmann B, Miyanji F, Lauder GR.   +6 more
europepmc   +1 more source

Ex Vivo LRRK2 Activation in Asian G2385R and R1628P Variant Carriers and Idiopathic Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Leucine‐rich repeat kinase 2 (LRRK2) kinase inhibition is a promising therapeutic strategy for Parkinson's disease (PD), but the functional impact of Asian‐prevalent LRRK2 p.G2385R and p.R1628P variants remains unclear. Robust patient stratification and target engagement markers are needed for global LRRK2‐targeted trials ...
Tzi Shin Toh, Lei Cheng Lit, Shen‐Yang Lim, Jia Wei Hor, Choey Yee Lew, Anis Nadhirah Khairul Anuar, Yi Wen Tay, Kirsten Black, Jia Lun Lim, Jannah Zulkefli, Kai Shi Lim, Hans Xing Ding, Shalini Padmanabhan, Azlina Ahmad‐Annuar, Eng King Tan, Dario R. Alessi, Esther Sammler, Ai Huey Tan   +17 more
wiley   +1 more source

Feasibility of Using Intraoperative Neurophysiological Monitoring for Detecting Bone Layer of Cervical Spine Surgery. [PDF]

Clin Spine Surg
Zuo W, Yu L, Tan H, Li X, Zhu B, Liu Y, Peng X, Yang Y, Fei Q.   +8 more
europepmc   +1 more source

Removal of schwannoma from the psoas muscle with intraoperative neurophysiological monitoring: A case report. [PDF]

Medicine (Baltimore)
Yoo NY, Kim HS, Yang JW, Park D, Park D.
europepmc   +1 more source