Results 121 to 130 of about 480,112 (346)

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce, Goknur Selen Kocak, José Verdú‐Díaz, Jorge Alonso‐Pérez, Kristl G. Claeys, Tanya Stojkovic, Gorka Fernández‐Eulate, Pascal Laforêt, Najoua Miladi, Filipe Di Pace, Cristiane Araujo Martins Moreno, Edmar Zanoteli, Conrad C. Weihl, Volker Straub, Ana Töpf, Jordi Díaz‐Manera, Sarcoglycan European Cohort Consortium, Adele D′Amico, Adolfo López de Munain, Alicia Alonso‐Jiménez, Ana Camacho‐Salas, Andrea Gangfuß, Andrés Nascimento, Anna Sarkozy, Anneke J. van der Kooi, Arturo Fraga‐Bau, Béla Melegh, Benedikt Schoser, Bjarne Udd, Blaz Koritnik, Carlos Ortez, Chiara Marini Bettolo, Chiara Panicucci, Claudia Weiss, Claudio Bruno, Claudio Semplicini, Cristina Dominguez‐González, Cristina Garrido, David Gómez‐Andrés, Edoardo Malfatti, Elena Pegoraro, Elke De Vos, Francina Munell, Gabriele Dekomien, Giacomo Pietro Comi, Giorgio Tasca, Isabelle Richard, Jan L. De Bleecker, Jana Haberlová, Jesper Helbo Storgaard, Johanna Palmio, John Vissing, Juan Carlos de Leon‐Hernández, Kinga Hadzsiev, Laura Costa‐Comellas, Lea Leonardis, Leroy ten Dam, Lidia González‐Quereda, Luca Bello, Luisa Politano, Manuela Santos, Marianne de Visser, Marie Rohlenová, Matteo Garibaldi, Michela Guglieri, Nicolas Deconinck, Nicoline Løkken, Omar Abdel‐Mannan, Pia Gallano, Roberto Fernández‐Torrón, Ulrike Schara‐Schmidt, Vincenzo Nigro, Vittoria Zangaro   +72 more
wiley   +1 more source

The inter-rater reliability of the Pulmonary Embolism Severity Index

, 2010
The Pulmonary Embolism Severity Index (PESI) is a validated clinical prognostic model for patients with acute pulmonary embolism (PE). Our goal was to assess the PESI's inter-rater reliability in patients diagnosed with PE.
Fraga, M., Stéphanie Witzig, Waeber, Gérard, Montserrat Fraga, Aujesky, Drahomir, Drahomir Aujesky, Méan, M., Witzig, S., Marie Méan, Fraga, Montserrat, Méan, Marie, Witzig, Stéphanie, Gérard Waeber, Taffé, Patrick, Taffé, P., Hugli, Olivier, Hugli, O., Olivier Hugli, Patrick Taffé, Waeber, G., Aujesky, D.   +20 more
core   +1 more source

CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao, Rong Li, Yu‐Xiang Jiao, Kai Ma, Hong‐Qi Yang, Zheng‐Yu Sun, Jie‐Wen Zhang, Shuai Chen   +7 more
wiley   +1 more source

Inter-rater reliability results for each index item and for the PHR Data Quality Index overall.

, 2022
Inter-rater reliability results for each index item and for the PHR Data Quality Index overall.
Rose McKeon Olson (4035158), Katy Johnson (12009430), Brett Nelson (6313823), Wendy Macias-Konstantopoulos (12009424), Roseline Muchai (12009427), Ranit Mishori (6949526)   +5 more
core   +1 more source

Brief Suicide Questionnaire. Inter-rater reliability

Revista de Psiquiatría y Salud Mental (English Edition), 2012
Inter-rater agreement is a crucial aspect in the planning and performance of a clinical trial in which the main assessment tool is the clinical interview. The main objectives of this study are to study the inter-rater agreement of a tool for the assessment of suicidal behavior (Brief Suicide Questionnaire) and to examine whether the inter-examiner ...
Garcia-Nieto, R, Uribe, IP, Palao, D, Lopez-Castroman, J, Saiz, PA, Garcia-Portilla, MP, Ruiz, JS, Ibanez, A, Tiana, T, Sindreu, SD, Sola, VP, de Diego-Otero, Y, Perez-Costillas, L, Garcia-Andrade, RF, Saiz-Gonzalez, D, Arriero, MAJ, Acosta, MN, Giner, L, Guija, JA, Escobar, JL, Cervilla, JA, Quesada, M, Braquehais, D, Blasco-Fontecilla, H, Legido-Gil, T, Aroca, F, Baca-Garcia, E   +26 more
openaire   +3 more sources

Elevated Connectivity During Language Processing Is Associated With Cognitive Performance in SeLECTS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Self‐Limited Epilepsy with Centrotemporal Spikes (SeLECTS) is associated with language impairments despite seizures originating in the motor cortex, suggesting aberrant cross‐network interactions. Here we tested whether functional connectivity in SeLECTS during language tasks predicts language performance.
Wendy Qi, Katharine Lee, Kerry C. Nix, Miguel Menchaca, Xiwei Shé, Lorelei Santa Maria, Wei Wu, Zihuai He, Fiona M. Baumer   +8 more
wiley   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Intra- and inter-rater reliability of the Stroke Rehabilitation Assessment of Movement (STREAM)

Journal of Associated Medical Sciences, 2017
Objectives: To examine intra-rater and inter-rater reliability of the STREAM Thai version in evaluating motor recovery of patients with stroke. Materials and methods: Thirty patients with stroke (mean age 62.5±13.5 yrs.) participated in the study. Time
Somporn Sungkarat, Sureeporn Uthaikhup, Mathita Keawsutthi, Jitima Charoenlimprasert, Supapon Kaewsanmuang   +4 more
doaj  

Inter-rater reliability for muscle thickness, cross-sectional area, and echo intensity.

, 2022
Inter-rater reliability for muscle thickness, cross-sectional area, and echo intensity.
Omid Nabavizadeh (12488219), Ashley A. Herda (12488225), Christopher J. Cleary (12488216), Kaycie L. Young (12488222)   +3 more
core   +1 more source

Clinical Outcomes of SEEG‐Guided Radiofrequency Thermocoagulation in Children With Focal Drug‐Resistant Epilepsy: A Multicenter Real‐World Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Stereoelectroencephalography‐guided radiofrequency thermocoagulation (SEEG‐RFTC) has emerged as a safe and effective minimally invasive treatment for children with drug‐resistant focal epilepsy. Although evidence from real‐world studies remains limited, numerous pediatric cases have demonstrated promising outcomes. This retrospective
Weitao Chen, Stéphane Jean, Weihong Liu, Yihai Dai, Xinrong Fang, Xiaoqiang Wei, Shan Chen, Shiwei Song   +7 more
wiley   +1 more source