Results 111 to 120 of about 47,631 (258)

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

Deep Brain Stimulation and Pregnancy: A Case Report and Literature Review

Movement Disorders Clinical Practice, EarlyView.
Verónica Cabreira, Maria José Rosas
wiley   +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

Commentary: SPTBN5, encoding the βV-spectrin protein, leads to a syndrome of intellectual disability, developmental delay, and seizures

Frontiers in Molecular Neuroscience, 2022
Danique Beijer, Stephan L. Züchner
doaj   +1 more source

Development and clinical application of a preimplantation genetic testing for monogenic disease (PGT-M) for beta thalassemia in Vietnam. [PDF]

J Assist Reprod Genet, 2021
Mai AD, Harton GL, Harton GL, Quang VN, Van HN, Thi NH, Thuy NP, Le Thi TH, Minh DN, Quoc QT.   +9 more
europepmc   +1 more source

Co‐ and Multi‐Pathologies in Parkinson's Disease: An International Parkinson and Movement Disorder Society Scientific Issues Committee Review

Movement Disorders, EarlyView.
Abstract Parkinson's disease (PD) has been historically defined as a disease of striatal dopamine deficiency secondary to degeneration of dopaminergic neurons in the substantia nigra pars compacta, related to the presence of Lewy bodies and Lewy neurites.
Michele Matarazzo, Per Borghammer, Inas Elsayed, Jennifer G. Goldman, Yue Huang, Katja Lohmann, Per Svenningsson, Lorraine V. Kalia, Daniela Berg, Jeffrey H. Kordower, the MDS Scientific Issues Committee   +10 more
wiley   +1 more source

Non-Invasive Prenatal Diagnosis of Chromosomal and Monogenic Disease by a Novel Bioinspired Micro–Nanochip for Isolating Fetal Nucleated Red Blood Cells

International Journal of Nanomedicine
Naiqi Li,1,2,* Yue Sun,3,4,* Lin Cheng,1,5,6 Chun Feng,7 Yifan Sun,1,5,6 Saisai Yang,1,5 Yuqi Shao,1,6 Xing-Zhong Zhao,3 Yuanzhen Zhang1,5,6 1Department of Obstetrics and Gynecology, Zhongnan Hospital of Wuhan University, Wuhan, Hubei, 430071 ...
Li N, Sun Y, Cheng L, Feng C, Sun Y, Yang S, Shao Y, Zhao XZ, Zhang Y   +8 more
doaj  

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

Distinct Brain Drivers and Shared Cerebello–Cortical Input in ADCY5 and SGCE Hyperkinetic Movements

Movement Disorders, EarlyView.
Resting‐state fMRI and effective connectivity revealed distinct cerebellar–basal ganglia–cortical interactions in ADCY5 (MxMD‐ADCY5) and SGCE (MYC/DYT‐SGCE) related movement disorders. The cerebellum modulated cortex directly in MYC/DYT‐SGCE, but indirectly via basal ganglia‐cerebellar projections in MxMD‐ADCY5, which also showed reduced subthalamic ...
Clément Tarrano, Cécile Galléa, Asya Ekmen, Cécile Delorme, Eavan M. McGovern, Quentin Salardaine, Lina Daghsen, Manon Gomes, Vanessa Brochard, Eoin Mulroy, Kailash P. Bhatia, Carlo Fusco, Miryam Carecchio, Norbert Brüggemann, Alexander Münchau, Victoria Gonzalez, Diane Doummar, Christine Tranchant, Mathieu Anheim, Philippe Damier, Florence Riant, Mohamed Doulazmi, Agathe Roubertie, Caroline Dubacq, Oriane Trouillard, Romain Valabregue, Mélanie Didier, Benoit Beranger, Pierre Pouget, Marie Vidailhet, Sabine Meunier, Aurélie Méneret, Yulia Worbe, Emmanuel Roze   +33 more
wiley   +1 more source