Results 91 to 100 of about 33,406,320 (250)

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

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

Qualitative Psychology Nexus, Vol. VI: Qualitative psychology in the changing academic context

, 2008
The sixth volume of the Qualitative Psychology Nexus comprises documents and contributions of the sixth international meeting on qualitative psychology, organized by EARLI SIG 17 "Qualitative and Quantitative Approaches to Learning and Instruction".
Cook, Leslie, Maslo, Irina, Huber, Günter, Ullrich, Annette, Fernate, Andra, Organisjana, Karine, Medina, Antonio, Sánchez Romero, Cristina, Domínguez, Concepción, Flavian, Heidi, Wood, Wendy, Birzina, Rita, Gento, Samuel, Koke, Tatjana, Witzel, Andreas, Pigozne, Tamara, Surikova, Svetlana, Weiss, Andreas, Herfort, Inge, Luka, Ineta, Kiegelmann, Mechthild   +20 more
core   +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

Quality of life in ostomy patients: a qualitative study

Patient Preference and Adherence, 2010
Aazam Dabirian, Farideh Yaghmaei, Maryam Rassouli, Mansoureh Zagheri TafreshiNursing and Midwifery School, Shahid Beheshti University of Medical Sciences, Tehran, IranPurpose: Therapeutic procedures may not only treat disease but also affect patient ...
Aazam Dabirian, Farideh Yaghmaei, Maryam Rassouli, et al   +3 more
doaj  

Qualitative Psychology Nexus, Vol. X: Values and Diversity in Qualitative Research

, 2012
Presentations from the annual workshops of the Center for Qualitative psychology in Sassary (Italy) in 2010 and in Heidelberg (Germany) in 2011 have been combined in this volume. The book has twelve chapters, organized in two parts: Reflections on Values
Suorsa, Teemu, Christel, Taylor, Huber, Günter L., Collatz, Klaus-Günter, Schweizer, Karin, Patrizi, Patrizia, Poštuvan, Vita, Mirlashari, Jila, Flavian, Heidi, Medina Domínguez, C. Maria, Lim, Levan, Jahanbani, Jahanfar, Gento, Samuel, Rafiey, Hassan, Demirkol, Abdullah Apo, Ullrich, Anette, McCarthy, Christopher, Lambert, Richard G., Tussia-Cohen, Betty, Estalella, Adolfo, Zimber, Andreas, Bussu, Anna, von Lautz, Alex, Medina Rivilla, Antonio, Kröner, Stephan, Kuzmaniæ, Marja, Salsali, Mahvash, Domínguez Garruda, Ma Concepción, Comtesse, Hannah, Schneider, Annette   +29 more
core   +1 more source

Electroencephalographic Normalization as a Biomarker of Clinical Recovery in Down Syndrome Regression Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Down syndrome regression disorder is a syndrome characterized by subacute loss of cognitive, behavioral, and functional abilities in individuals with Down syndrome. Electroencephalography abnormalities are frequently observed during evaluation, but it remains unclear whether these findings represent a dynamic marker of disease ...
Jonathan D. Santoro, Mackenzie Silverman, Maeve C. Lucas, Mariam M. Yousuf, Samuel T. Otey, Stella V. Gray, Brittany Jordan, Madeline D. Kahan, Latanya D. Agurs, Michelle Van Hirtum Das, Deborah Holder, Devin King, Eileen A. Quinn, Ryan Kammeyer, Michael S. Rafii   +14 more
wiley   +1 more source

Obtaining the patient’s perspective on frailty: a mini-review of qualitative studies

The Journal of Nutrition, Health and Aging
There is a small, but growing, evidence base on obtaining the patient’s perspective on frailty, which can help guide future research and clinical management strategies.
Quin E. Denfeld, Shirin O. Hiatt, Susan J. Rosenkranz, Lissi Hansen   +3 more
doaj   +1 more source

T1 Over Squared Proton Density Ratio to Characterize Multiple Sclerosis Lesions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Differentiating remyelinated from demyelinated lesions in MS remains challenging without histological confirmation. This study introduces the T1‐to‐PD2 ratio (TPR) imaging approach and evaluates its ability to characterize MS lesions alongside other quantitative MRI (qMRI) metrics. Methods Thirty individuals with MS (mean age: 47.5 ± 
Sarah J. Wright, Scotty G. McKay, Jean Ramos Bou, Fen Bao, Vivian B. Truong, Chenyang Li, Li Jiang, Anza B. Memon, E. Mark Haacke, Yulin Ge, Yongsheng Chen   +10 more
wiley   +1 more source