Results 81 to 90 of about 832,548 (251)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Comparative Effectiveness and Safety of Inebilizumab Versus Rituximab in AQP4‐IgG‐Positive NMOSD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Rituximab (anti‐CD20, RTX) and inebilizumab (anti‐CD19, INE) represent B‐cell‐depleting therapies used for aquaporin‐4 antibody‐positive (AQP4‐IgG+) neuromyelitis optica spectrum disorder (NMOSD); however, direct comparative evidence remains limited.
Jie Lin, Binbin Xue, Dewei Xie, Jia Li, Juyuan Pan, Lanbing Zhu, Qiaowen Tong, Jing Lin, Ruofan Zhu, Xu Zhang, Junhui Xia, Xiang Li   +11 more
wiley   +1 more source

Parents' experiences of parenting a child with profound intellectual and multiple disabilities in France: A qualitative study

Health Expectations
Introduction Parents of persons with profound intellectual and multiple disabilities (PIMD) play a major and often lifelong role in the care and support of their child.
Marie‐Anastasie Aim, Marie‐Christine Rousseau, Ilyes Hamouda, Any Beltran Anzola, Thierry Billette deVillemeur, Mathieu Milh, Kim Maincent, Katia Lind, Pascal Auquier, Karine Baumstarck, Lionel Dany   +10 more
doaj   +1 more source

Employees’ experiences of involving their managers in the Return-to-Work process through a three-party meeting in primary healthcare – a retrospective interview study

Scandinavian Journal of Primary Health Care
Purpose A trusting relationship between employee and manager is crucial for constructive dialogue regarding work ability. However, employees may sometimes experience collaboration as unpleasant if the dialogue with their manager is not constructive.
Marie-Louise Pauhlson, Teresia Nyman, Magnus Svartengren, Kristina Eliasson, Therese Hellman   +4 more
doaj   +1 more source

Studying Scripts of Women, Men and Suicide: Qualitative-Method Development and Findings from Nepal. [PDF]

Int J Environ Res Public Health, 2023
Canetto SS, Menger-Ogle AD, Subba UK.
europepmc   +1 more source

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

The qualitative method for a humanisation of research. [PDF]

Acta Biomed, 2021
Artioli G, Sarli L.
europepmc   +1 more source

Neurochemical Endpoints to Inform Early‐Stage Trials of Spinocerebellar Ataxia 2 and 3 in a Multisite Setting

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers, Yaqiao Wei, Dinesh K. Deelchand, Adam Berrington, Young Woo Park, Guita Banan, Michal Povazan, Jens T. Rosenberg, André J. W. van der Kouwe, Tetsuo Ashizawa, Khalaf O. Bushara, Chiadi U. Onyike, Sub H. Subramony, Jeremy D. Schmahmann, Brian J. Soher, Peter B. Barker, Thomas H. Mareci, Eva‐Maria Ratai, Lynn E. Eberly, Gülin Öz   +19 more
wiley   +1 more source

Approche des relations des visiteurs à l’espace : une expérience du paysage

Projets de Paysage, 2012
Our doctoral research, which focuses on space experience of mountain hikers, rests on the premise that both landscape and tourism experience are privileged entrances to understanding human relationship with space.
Anne-Sophie Devanne
doaj   +1 more source

Floating sphere assay: A rapid qualitative method for microvolume analysis of gelation. [PDF]

PLoS One, 2022
Tay UJ, Goh M, Wen Hui JC, Arumugam P.
europepmc   +1 more source