Results 181 to 190 of about 1,594,854 (292)
Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT
Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison +9 morewiley +1 more sourceProteomic Analysis of Mouse Cerebral Cortex Following Experimental Ischemic Stroke: Identifying Novel Biomarkers of Damage and Repair. [PDF]
Cell Mol NeurobiolHamer D, Butorac A, Petrinec D, Berecki M, Mendes VM, Manadas B, Kelava V, K Hackenberger B, Glasnović A, Lovrić M, Gajović S, Dobrivojević Radmilović M. +11 moreeuropepmc +1 more sourcePetilla terminology: nomenclature of features of GABAergic interneurons of the cerebral cortex
Nature Reviews Neuroscience, 2008 G. Ascoli, L. Alonso-Nanclares, S. Anderson, G. Barrionuevo, Ruth Benavides-Piccione, A. Burkhalter, G. Buzsáki, B. Cauli, J. DeFelipe, A. Fairén, D. Feldmeyer, G. Fishell, Y. Frégnac, T. Freund, D. Gardner, E. P. Gardner, J. Goldberg, M. Helmstaedter, S. Hestrin, F. Karube, Z. Kisvárday, B. Lambolez, D. A. Lewis, O. Marín, H. Markram, A. Muñoz, Adam Packer, C. Petersen, K. Rockland, J. Rossier, B. Rudy, P. Somogyi, J. Staiger, G. Tamás, A. Thomson, Maria Toledo-Rodriguez, Yun Wang, D. C. West, R. Yuste +38 moresemanticscholar +1 more sourceOptimization and verification of high‐fat diet formulation for establishing a rat model of obesity‐related precocious puberty
Animal Models and Experimental Medicine, EarlyView.We identified 45% HFD as the optimal formulation to establish a juvenile rat model of obesity‐related precocious puberty. It elicits robust phenotypic (early vaginal opening, obesity), histological (advanced ovarian development), and endocrine (elevated HPG axis hormones) alterations, with leptin‐mediated GnRH secretion as a core mechanistic driver ...Jiayi Gong, Wei Qian, Deji Song, Kang Li, Li Zhang, Li Shi +5 morewiley +1 more sourceToward Harmonizing Quantification of Dopamine Neuron Imaging Biomarkers in Parkinson's Disease: The Centamine Scale
Annals of Neurology, EarlyView.Objective
Dopaminergic imaging is a key biomarker for both the investigation of the biology of Parkinson's disease and related synucleinopathies and the evaluation of potential therapies in clinical trials. This work presents a harmonized approach for quantifying dopaminergic molecular imaging tracers, such as [123I]ioflupane (dopamine transporter scan Zhen Fan, Graham Searle, Gaia Rizzo, Justin Albani, Patrick Cella, Robert Comley, Gregory Klein, Luca Passamonti, Cristian Salinas, Adam J. Schwarz, Leonardo Iaccarino, Gilles Tamagnan, Jamie Eberling, Ken Marek, John Seibyl, Roger N. Gunn, The Parkinson's Progression Markers Initiative, Kenneth Marek, Caroline Tanner, Tanya Simuni, Andrew Siderowf, Douglas Galasko, Lana Chahine, Christopher Coffey, Kalpana Merchant, Kathleen Poston, Roseanne Dobkin, Tatiana Foroud, Brit Mollenhauer, Dan Weintraub, Ethan Brown, Karl Kieburtz, Mark Frasier, Todd Sherer, Sohini Chowdhury, Roy Alcalay, Aleksandar Videnovic, Duygu Tosun‐Turgut, Werner Poewe, Susan Bressman, Jan Hammer, Raymond James, Ekemini Riley, John Seibyl, Leslie Shaw, David Standaert, Sneha Mantri, Nabila Dahodwala, Michael Schwarzschild, Connie Marras, Hubert Fernandez, Ira Shoulson, Helen Rowbotham, Paola Casalin, Claudia Trenkwalder, Todd Sherer, Sohini Chowdhury, Mark Frasier, Jamie Eberling, Katie Kopil, Alyssa O'Grady, Maggie McGuire Kuhl, Leslie Kirsch, Tawny Willson, Charles Adler, Roy Alcalay, Amy Amara, Paolo Barone, Bastiaan Bloem, Susan Bressman, Kathrin Brockmann, Norbert Brüggemann, Lana Chahine, Kelvin Chou, Nabila Dahodwala, Alberto Espay, Stewart Factor, Hubert Fernandez, Michelle Fullard, Douglas Galasko, Robert Hauser, Penelope Hogarth, Shu‐Ching Hu, Michele Hu, Stuart Isaacson, Christine Klein, Rejko Krueger, Mark Lew, Zoltan Mari, Connie Marras, Maria Jose Martí, Nikolaus McFarland, Tiago Mestre, Brit Mollenhauer, Emile Moukheiber, Alastair Noyce, Njideka Okubadejo, Sarah O'Shea, Rajesh Pahwa, Nicola Pavese, Werner Poewe, Ron Postuma, Giulietta Riboldi, Lauren Ruffrage, Javier Ruiz Martinez, David Russell, Marie H Saint‐Hilaire, Neil Santos, Wesley Schlett47, Ruth Schneider, Holly Shill, David Shprecher, Tanya Simuni, David Standaert, Leonidas Stefanis, Yen Tai, Caroline Tanner, Arjun Tarakad, Eduardo Tolosa PhD34, Aleksandar Videnovic, Susan Ainscough, Courtney Blair, Erica Botting, Isabella Chung, Kelly Clark, Ioana Croitoru, Kelly DeLano, Iris Egner, Fahrial Esha, May Eshel, Frank Ferrari, Victoria Kate Foster, Alicia Garrido, Madita Grümmer, Bethzaida Herrera, Ella Hilt, Chloe Huntzinger, Raymond James, Farah Kausar, Christos Koros, Yara Krasowski60, Dustin Le, Ying Liu, Taina M. Marques, Helen Mejia Santana, Sherri Mosovsky, Jennifer Mule, Philip Ng, Lauren O'Brien, Abiola Ogunleye, Oluwadamilola Ojo, Obi Onyinanya, Lisbeth Pennente, Romina Perrotti, Michael Pileggi, Ashwini Ramachandran, Deborah Raymond, Jamil Razzaque, Shawna Reddie, Kori Ribb, Kyle Rizer, Janelle Rodriguez, Stephanie Roman, Clarissa Sanchez, Cristina Simonet, Anisha Singh, Elisabeth Sittig, Barbara Sommerfeld, Angela Stovall, Bobbie Stubbeman, Alejandra Valenzuela, Catherine Wandell, Diana Willeke, Karen Williams, Dilinuer Wubuli +174 morewiley +1 more sourceThe Phenotypic Spectrum of Sporadic Creutzfeldt‐Jakob Disease Cortical Subtype
Annals of Neurology, EarlyView.Objective
The objective of this study was to characterize the phenotypic spectrum of the rare sporadic Creutzfeldt‐Jakob disease cortical subtype (sCJDMM/MV2C) in a large multicentric autopsy cohort. Methods
We evaluated clinical histories, biofluid markers, brain diffusion‐weighted (DW)‐magnetic resonance imaging (MRI), and electroencephalogram (EEG ...Simone Baiardi, Claudia Marina Vargiu, Brian S. Appleby, Marcelo Barria, Giuseppe Mario Bentivenga, Ignazio Calì, Benedetta Carlà, Mark Cohen, Armin Giese, Jochen Herms, Aino‐Minerva Kortelainen, Anna Ladogana, Angela Mammana, Diane Ritchie, Otto Windl, Sabina Capellari, Piero Parchi +16 morewiley +1 more source