Results 261 to 270 of about 19,535 (297)

A Biomarker‐Based Classification of Corticobasal Syndrome

Movement Disorders, EarlyView.
Abstract Background Corticobasal syndrome (CBS) is a clinically defined syndrome with progressive movement and cortical dysfunction, caused by various underlying pathologies, most commonly tau‐predominant pathologies such as progressive supranuclear palsy and corticobasal degeneration, or Alzheimer's disease (AD).
Carla Palleis, Alexander Maximilian Bernhardt, Endy Weidinger, Urban M. Fietzek, Alexander Jäck, Sabrina Katzdobler, Johannes Gnörich, Theresa Bauer, Nicolai Franzmeier, Robert Perneczky, German Imaging Initiative for Tauopathies (GII4T), Matthias Brendel, Johannes Levin, Günter U. Höglinger   +13 more
wiley   +1 more source

Integrating Long‐Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia

Movement Disorders, EarlyView.
Abstract Background Although many individuals with dystonia present with features indicative of single‐gene etiologies, obtaining definitive genetic diagnoses can be challenging. Objective We assessed the value of nanopore‐based long‐read sequencing (LRS) in achieving molecular clarification of dystonic syndromes.
Ugo Sorrentino, Martin Pavlov, Nazanin Mirza‐Schreiber, Melanie Brugger, Theresa Brunet, Eugenia Tsoma, Alice Saparov, Ivana Dzinovic, Philip Harrer, Antonia M. Stehr, Matias Wagner, Erik Tilch, Barbara Wallacher, Shiraz Alhasan, Anne Koy, Alessio Di Fonzo, Miriam Kolnikova, Katarina Kusikova, Petra Havrankova, Raushana Tautanova, Sandy Lösecke, Sebastian Eck, Sylvia Boesch, Jan Necpal, Matej Skorvanek, Robert Jech, Holger Prokisch, Juliane Winkelmann, Konrad Oexle, Elisabeth Graf, Michael Zech   +30 more
wiley   +1 more source

Einfluss von Tenascin-N auf die Regulation und Differenzierung von mesenchymalen Stammzellen in vivo [PDF]

, 2017
Imhof, Thomas
core  

Rare but Relevant? Assessing Variants in Dystonia‐Linked Genes in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Dystonia and Parkinson's disease (PD) exhibit clinical and genetic overlap, but the relevance of dystonia gene variants in PD remains unclear. Objective The aim was to assess the frequency of dystonia‐linked pathogenic variants in PD.
Lara M. Lange, Zih‐Hua Fang, Laurel Screven, Ai Huey Tan, Roy N. Alcalay, Rim Amouri, Roberta Bovenzi, Matilda Fenn, Joshua L.I. Frost, Joseph Jankovic, Simona Jasaityte, Zane Jaunmuktane, Beomseok Jeon, Ignacio Juan Keller Sarmiento, Rejko Krüger, Gregor Kuhlenbäumer, Chin‐Hsien Lin, Lukas Pavelka, Maria Teresa Periñan, Samia Ben Sassi, Tommaso Schirinzi, Jung Hwan Shin, Joshua M. Shulman, Yi Wen Tay, Ryan Uitti, Tom Warner, Zbigniew K. Wszolek, Lesley Wu, Ruey‐Meei Wu, Kirsten E. Zeuner, Cornelis Blauwendraat, Andrew Singleton, Niccolò E. Mencacci, Huw R. Morris, Shen‐Yang Lim, Katja Lohmann, Christine Klein, the Global Parkinson's Genetics Program (GP2)   +37 more
wiley   +1 more source

Prediction of Pathological Subthalamic Nucleus Beta Burst Occurrence in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background The corticobasal ganglia network in Parkinson's disease (PD) is characterized by the occurrence of transient episodes of exaggerated beta frequency oscillatory synchrony, known as bursts. Although it is known that bursts of prolonged duration associate closely with motor impairments, the mechanisms leading to burst initiation remain
Bahman Abdi‐Sargezeh, Sepehr Shirani, Abhinav Sharma, Tao Liu, Alexander Green, Harith Akram, Ludvic Zrinzo, Patricia Limousin, Tom Foltynie, Timothy Denison, Huiling Tan, Vladimir Litvak, Simon Little, Philip A. Starr, Ashwini Oswal   +14 more
wiley   +1 more source

Stridor Is an Independent Risk Factor for Mortality and Disease Progression in Patients with Multiple System Atrophy

Movement Disorders, EarlyView.
Abstract Background and aim Stridor and sleep apnea syndrome (SAS) are common in multiple system atrophy (MSA). Retrospective cohort studies have yielded conflicting results regarding the consequences of stridor and SAS on the disease course. This study aimed to assess the prognostic significance of stridor and SAS, as well as the potential survival ...
Pauline Dodet, Cecile Proust‐Lima, Federico Sirna, David Bendetowicz, Giulia Lazzeri, Rachel Debs, Anna Delamarre, Margaux Dunoyer, Margherita Fabbri, Claire Georges, Imad Ghorayeb, David Grabli, Cécile Londner, Anne Pavy‐Le Traon, Maxime Patout, Olivier Rascol, Isabelle Arnulf, Alexandra Foubert‐Samier, Wassilios G. Meissner   +18 more
wiley   +1 more source

Analyzing the ‘Bradykinesia Complex’ in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Bradykinesia is the hallmark sign of parkinsonism. We recently proposed redefining bradykinesia as a complex of motor abnormalities, each reflecting separate pathophysiological elements. Objective To analyze the ‘bradykinesia complex’ in Parkinson's disease (PD) and healthy elderly individuals.
Giulia Paparella, Martina De Riggi, Antonio Cannavacciuolo, Daniele Birreci, Davide Costa, Luca Angelini, Danilo Alunni Fegatelli, Alfonso Fasano, Alberto J. Espay, Matteo Bologna   +9 more
wiley   +1 more source

Analysis of a Modified Version of the Inventory of Non‐Ataxia Signs Over 12 Years in Patients with Friedreich's Ataxia in the EFACTS Study

Movement Disorders, EarlyView.
Abstract Background Friedreich's ataxia is a rare, neurodegenerative, multisystem disorder. While ataxia is a hallmark, non‐ataxia signs, including muscle weakness, spasticity, and dysphagia are equally disabling. The Inventory of Non‐Ataxia Signs (INAS) is a symptom list transformable to a 16‐item count.
Stella Andrea Lischewski, Imis Dogan, Paola Giunti, Michael H. Parkinson, Caterina Mariotti, Alexandra Durr, Claire Ewenczyk, Sylvia Boesch, Wolfgang Nachbauer, Thomas Klopstock, Claudia Stendel, Francisco Javier Rodríguez de Rivera Garrido, Ludger Schöls, Zofia Fleszar, Thomas Klockgether, Marcus Grobe‐Einsler, Ilaria Giordano, Myriam Rai, Massimo Pandolfo, Heike Jacobi, Ralf‐Dieter Hilgers, Jörg B. Schulz, Kathrin Reetz, on behalf of the EFACTS Study Group   +23 more
wiley   +1 more source

The Second Hit Hypothesis in Animal and Human Dystonia: The Role of Peripheral Nerve Trauma and Spinal Cord Injury

Movement Disorders, EarlyView.
The “second‐hit” hypothesis proposes that both a genetic predisposition and an environmental insult—such as peripheral nerve trauma or spinal cord injury—are required for dystonia development. This review explores how neuroinflammation and maladaptive plasticity, triggered by nerve and spinal cord injury, contribute to dystonia pathogenesis.
Lisa Harder‐Rauschenberger, Chi Wang Ip   +1 more
wiley   +1 more source

A Network Centered on the Visual‐Motor Cortex Is Critically Involved in Postural Abnormality in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Postural abnormality (PA) is a key motor symptom in Parkinson's disease (PD) that leads to disability and death. However, the pathophysiology underlying PA is still unknown. Objective The objective of this study was to explore the neural patterns behind PAs and measures toward functional restoration using repetitive transcranial ...
Zhuang Wu, Sha Zhu, Ronghua Hong, Zhuoyu Zhang, Yanzi Peng, Jingxing Zhang, Lizhen Pan, Qiang Guan, Yuhui Chen, Lingjing Jin   +9 more
wiley   +1 more source