Results 261 to 270 of about 81,579 (355)

Adult‐Onset Acute Cerebellar Ataxia with Preceding Essential Tremor‐like Syndrome Associated with a Novel Variant in ATP1A3

Movement Disorders Clinical Practice, EarlyView.
Lukas Gattermeyer‐Kell, Sebastian Franthal, Maria Tscherner, Mariella Kögl, Petra Katschnig‐Winter, Christian Windpassinger, Petra Schwingenschuh   +6 more
wiley   +1 more source

Defining the Rhythm: Developing a New Method to Describe Tremor and Myoclonus

Movement Disorders, EarlyView.
Abstract Background The hallmark feature of tremor is rhythmicity, which can be quantified using power spectral density (PSD) analysis. However, tremor exhibits considerable variability, ranging from highly regular to more irregular patterns. Similarly, rhythmicity in myoclonus varies, but it typically manifests as arrhythmic jerks.
Anna Latorre, Blake Hale, Carla Cordivari, Kais Humaidan, John C. Rothwell, Kailash P. Bhatia, Lorenzo Rocchi   +6 more
wiley   +1 more source

RAB32‐Linked Parkinson's Disease: Deep Phenotyping, MDSGene Literature Review, and Application of SynNeurGe Criteria

Movement Disorders, EarlyView.
Abstract Background The RAB32 p.Ser71Arg variant is a novel cause of monogenic Parkinson's disease (PD), for which detailed phenotypic information is currently scarce. Objectives Our aim was to clinically and biologically characterize individuals with PARK‐RAB32 to gain insights into genotype–phenotype relationships, disease severity, and underlying ...
Teresa Kleinz, Francesco Cavallieri, Max Borsche, Giulia Toschi, Franco Valzania, Valentina Fioravanti, Enza Maria Valente, Pierfrancesco Mitrotti, Micol Avenali, Simone Zittel, Rommi Born, Michele Matarazzo, Alessio Di Fonzo, Edoardo Monfrini, Mandy Radefeldt, Letizia Santinelli, Norman Griebner, Cholpon Shambetova, Max Brand, Carolin Gabbert, Cornelis Blauwendraat, Joanne Trinh, Katja Lohmann, Christian Beetz, Peter Bauer, Norbert Brüggemann, Global Parkinson's Genetics Program (GP2), Christine Klein   +27 more
wiley   +1 more source

<i>VPS16</i>-Associated Dystonia: A Cohort-Based Clinical, Imaging and Genetic Profile. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Mahale RR, Padmanabha H.
europepmc   +1 more source

Does COMT Play a Role in Parkinson's Disease Susceptibility across Diverse Ancestral Populations?

Movement Disorders, EarlyView.
Abstract Background The catechol‐O‐methyltransferase (COMT) gene is involved in brain catecholamine metabolism, but its association with Parkinson's disease (PD) risk remains unclear. Objective Our aim was to investigate the relationship between COMT genetic variants and PD risk across diverse ancestries.
Miguel Martín‐Bórnez, Nisar Shar, Mohamed Ahmed Nour, David Murphy, Inas Elsayed, Megha Shri Nanjundaswamy, Francisca Nwaokorie, Adedunni Olusanya, Nicole Kuznetsov, Sara Bandres‐Ciga, Alastair J. Noyce, Hirotaka Iwaki, Lietsel Jones, Pilar Gómez‐Garre, Pablo Mir, The Global Parkinson's Genetics Program (GP2), María Teresa Periñán   +16 more
wiley   +1 more source

Oromandibular Dystonia and Dysphagia in Hyperglycemic Brainstem Dysfunction. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Lueg G, Westhoff T, Fruth M, Kerkmann R, Krämer J.   +4 more
europepmc   +1 more source

Vagus Nerve Stimulation in Movement Disorders, from Principles to a Systematic Review of Evidence

Movement Disorders, EarlyView.
Abstract Background The vagus nerve (VN), the principal component of the parasympathetic branch of the autonomic nervous system (ANS), mediates bidirec communication between the central nervous system (CNS) and peripheral organs. Vagus nerve stimulation (VNS), delivered through invasive (iVNS) or non‐invasive (transcutaneous cervical [tcVNS] and ...
Francesca Proietti, Matteo Maria Ottaviani, Elisabetta Burchi, Giorgio Vivacqua, Gaia Anzini, Riccardo Antonio Ricciuti, Fioravante Capone, Vaughan G. Macefield, Vincenzo Di Lazzaro, Massimo Marano   +9 more
wiley   +1 more source

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia. [PDF]

Brain
Zech M, Dzinovic I, Skorvanek M, Harrer P, Necpal J, Kopajtich R, Kittke V, Tilch E, Zhao C, Tsoma E, Sorrentino U, Indelicato E, Stehr A, Saparov A, Abela L, Adamovicova M, Afenjar A, Assmann B, Baloghova J, Baumann M, Berutti R, Brezna Z, Brugger M, Brunet T, Cogne B, Colangelo I, Conboy E, Distelmaier F, Eckenweiler M, Garavaglia B, Geerlof A, Graf E, Hackenberg A, Harvanova D, Haslinger B, Havrankova P, Hoffmann GF, Janzarik WG, Keren B, Kolnikova M, Kolokotronis K, Kosutzka Z, Koy A, Krenn M, Krygier M, Kusikova K, Maier O, Meitinger T, Mertes C, Milenkovic I, Monfrini E, Santos Dias Mourao A, Musacchio T, Nizon M, Ostrozovicova M, Pavlov M, Prihodova I, Rektorova I, Romito LM, Rybanska B, Sadr-Nabavi A, Schwenger S, Shoeibi A, Sitzberger A, Smirnov D, Svantnerova J, Tautanova R, Toelle SP, Ulmanova O, Vetrini F, Vill K, Wagner M, Weise D, Zorzi G, Di Fonzo A, Oexle K, Berweck S, Mall V, Boesch S, Schormair B, Prokisch H, Jech R, Winkelmann J.   +82 more
europepmc   +1 more source

SPECT Cerebral Perfusion Patterns in Isolated Cervical Dystonia. [PDF]

J Neuroimaging
Kim B, Yoo ID, Jeong HS, Chung YA, Song IU.   +4 more
europepmc   +1 more source

RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications

Movement Disorders, EarlyView.
Abstract Background Primary brain calcifications are observed in several inherited diseases due to different pathogenic mechanisms, including the disruption of the neurovascular unit, mitochondrial dysfunction, and impaired nucleic acid metabolism.
Edoardo Monfrini, Paola Rinchetti, Mathieu Anheim, Anna Klingseisen, Ouhaid Lagha‐Boukbiza, Zhidong Cen, Dehao Yang, Xinhui Chen, Reza Maroofian, Henry Houlden, Gioia Cappelletti, Anne‐Claire Richard, Olivier Quenez, Camilo Toro, Steven J. Frucht, Francesco Lotti, Wei Luo, David Hunt, Gael Nicolas, Giulietta M. Riboldi   +19 more
wiley   +1 more source