Results 71 to 80 of about 16,431 (265)

Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas, Mauro Monforte, Angel Sanchez‐Montañez, Penélope Romero‐Duque, Elena Pegoraro, Jordi Díaz‐Manera, Dmitry Vlodavets, Lorenzo Maggi, Marco Moscatelli, Adele D‘Amico, Montse Olivé, Jorge Alonso‐Pérez, Giacomo Comi, José Miguel Escudero‐Fernández, Gabriela S. Urcuyo, Anna Pichiecchio, Angela Berardinelli, Kristl G. Claeys, Claudio Bruno, Chiara Panicucci, Sara Bortolani, Eleonora Torchia, Enzo Ricci, Soledad Monges, Jorge A. Bevilacqua, Jorge Diaz‐Jara, Maggie C. Walter, Simone Thiele, Nicoline Løkken, John Vissing, Susana Quijano‐Roy, Robert Y. Carlier, Nicol C. Voermans, Chiara Marini‐Bettolo, Michela Guglieri, Volker Straub, Lea Leonardis, Francina Munell, David Gómez‐Andrés, Giorgio Tasca   +39 more
wiley   +1 more source

Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler, Vivian Maas, Arian Taheri Amin, Jennifer Faber, Tamara Schaprian, Katharina Hill, Matthis Synofzik, Lisa H. Graf, Heike Jacobi, Manuela Lima, Ana F. Ferreira, Bart P. van de Warrenburg, Ilse H. J. Willemse, Dagmar Timmann, Andreas Thieme, Paola Giunti, Hector Garcia‐Moreno, Magda M. Santana, Jeannette Hübener‐Schmid, Elin H. Davies, Thomas Klockgether   +20 more
wiley   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Response to critique of: ‘Understanding the impact of lockdowns on short-term excess mortality in Australia’ by Gigi Foster and Sanjeev Sabhlok

BMJ Global Health, 2023
Philip Clarke, Andrew Leigh
doaj   +1 more source

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

Ultrasonography Compared With Computed Tomography in Identifying Thoracic Aortic Aneurysms in Patients With Giant Cell Arteritis

Arthritis Care &Research, EarlyView.
Objective The objectives of this study were to evaluate the correlation and agreement between ultrasonography and computed tomography (CT) in measuring ascending aorta diameter in patients with giant cell arteritis (GCA) and to investigate the development of new ascending aortic aneurysms in patients with newly diagnosed GCA.
Anne C. Bull Haaversen, Lene K. Brekke, Tanaz A. Kermani, Øyvind Molberg, Andreas P. Diamantopoulos   +4 more
wiley   +1 more source

Accuracy of Diagnostic Codes and Algorithms Used to Identify Rheumatoid Arthritis and Juvenile Idiopathic Arthritis in Administrative Claims and Electronic Health Records: Systematic Review and Meta‐Analysis

Arthritis Care &Research, EarlyView.
Objective This systematic review aimed to assess the diagnostic accuracy of algorithms used to identify rheumatoid arthritis and juvenile idiopathic arthritis in electronic health records. Methods We searched Medline, Embase, and Cochrane Central Register for Controlled Trials databases and included studies that validated case definitions against a ...
Constanza Saka‐Herrán, Jessica Bennett, Yara Alkabti, Muhammad Fatir, Barbara Clyne, Caroline McCarthy, Gráinne Tynan, Nikki Dunne, Michelle Flood, Eoghan McCarthy, Frank Moriarty   +10 more
wiley   +1 more source

The European Parliament as the voice of the European citizens? Examining the European Parliament’s role as a representative of the European citizens in the 2019 elections

QOE-IJES
The European Parliament is considered a solution to the democratic deficit because the citizens of the EU directly elect it. This article aims to examine the validity of this claim. Concerning representativeness, the focus is on the homogeneity of rules
Roberto Baccarini
doaj   +1 more source

Associations of Sleep and Shift Work With Osteoarthritis Risk

Arthritis Care &Research, EarlyView.
Objective Daily rhythms may be critical for maintaining homeostasis of joint tissues. We aimed to investigate the relationships among circadian clock disruption, sleep, and osteoarthritis (OA) risk in humans. Methods In the UK Biobank, a prospective 500,000–person cohort, we evaluated associations among sleep duration, sleeplessness/insomnia, and shift
Elizabeth L. Yanik, Abigail Bridgeman, Erik D. Herzog, Vy Pham, Bradley A. Evanoff, Farshid Guilak   +5 more
wiley   +1 more source

Scotland and Europe, or: Room at the Top for ‘Constitutional Regions’? [PDF]

Romanian Journal of European Affairs, 2004
Scotland, it is sometimes said, is more Euro-friendly than the rest of Britain. And, yes, some opinion polls would support that. Scotland is slightly more favourably disposed towards the Euro. And outright Euro-scepticism is not as thick on the ground as
Eberhard Bort
doaj