Results 91 to 100 of about 25,222,298 (292)

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

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

Qualitative Psychology Nexus, Vol. IX: Beyond Text: Video and other Medium Use in Qualitative Research

, 2012
The 10th Annual Workshop of the Center for Qualitative Psychology "Beyond text: Video and other medium use in qualitative research" took place in February 20th- 22nd 2009 in Weingarten, Germany. With this workshop we focused on video analyses and related
Domínguez, María-C., Huber, Günter L., Demuth, Carolin, Ricoy Lorenzo, María Carmen, Schweizer, Karin, Ortiz Colón, Ana María, Medina, Antonio, Gento, Samuel, Drews, Johanna, Kröner, Stephan, González, Raúl, Feliz Murias, Tiberio, Ortega Tudela, Juana María, Almazán Moreno, Lorenzo, Feliz Ricoy, Sálvora   +14 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

Developing a visual model to represent the implementation of an ambitious mathematics program

Frontiers in Education
We describe the development of a visual model to represent the implementation of an ambitious mathematics program, which serves as an example of a complex educational reform.
Jeffrey Choppin, Saliha Al, Junnan Li, Charles E. Wilkes, Ernesto Daniel Calleros   +4 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

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

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman   +9 more
wiley   +1 more source

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

Characterizing Cutaneous α‐Synuclein Deposition and Seeding Activity in Parkinson's Disease Subtypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cutaneous phosphorylated α‐synuclein (p‐syn) and α‐synuclein seeding activity are promising biomarkers for Parkinson's disease (PD), but their clinical value remains uncertain due to disease heterogeneity. This study evaluates these two biomarkers in PD patients to inform phenotype‐specific diagnosis and disease severity assessment ...
Yuting Jin, Tianyuan Yang, Minglei Liu, Haiyang Luo, Jing Yuan, Ke Zhang, Xinsheng Han, Jing Yang, Yuming Xu   +8 more
wiley   +1 more source