Results 51 to 60 of about 50,342 (212)

Distinct thalamic functional connectivity and volume patterns across focal epilepsies in children: A multimodal neuroimaging study

Epilepsia, EarlyView.
Abstract Objective The thalamus is a key hub in seizure propagation, and its nuclei are emerging targets for neuromodulation. However, the contributions of individual nuclei to epileptic networks remain unclear, particularly in children, who are less studied than adults.
Xiyu Feng, Aswin Chari, Maria H. Eriksson, Freya Prentice, Xiaosong He, Hua Xie, Leigh Sepeta, M. Zubair Tahir, Jonathan D. Clayden, Martin M. Tisdall, Torsten Baldeweg, Rory J. Piper   +11 more
wiley   +1 more source

Differential effects of mTOR inhibition and dietary ketosis in a mouse model of subacute necrotizing encephalomyelopathy

Neurobiology of Disease, 2022
Genetic mitochondrial diseases are the most frequent cause of inherited metabolic disorders and one of the most prevalent causes of heritable neurological disease. Leigh syndrome is the most common clinical presentation of pediatric mitochondrial disease,
Rebecca Bornstein, Katerina James, Julia Stokes, Kyung Yeon Park, Ernst-Bernhard Kayser, John Snell, Angela Bard, Yihan Chen, Franck Kalume, Simon C. Johnson   +9 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Generation of a human induced pluripotent stem cell line NTUHi004-A from a patient with Leigh syndrome harboring a homozygous missense mutation c.836 T > G (p.Met279Arg) in NDUFAF5 gene

Stem Cell Research
Leigh syndrome is a rare autosomal recessive disorder showcasing a diverse range of neurological symptoms. Classical Leigh syndrome is associated with mitochondrial complex I deficiency, primarily resulting from biallelic mutations in the NDUFAF5 gene ...
Chih-Hsin Ou-Yang, Pin-Shiuan Chen, Chin-Hsien Lin   +2 more
doaj   +1 more source

Downbeat nystagmus: aetiology and comorbidity in 117 patients [PDF]

, 2008
Objectives: Downbeat nystagmus (DBN) is the most common form of acquired involuntary ocular oscillation overriding fixation. According to previous studies, the cause of DBN is unsolved in up to 44% of cases.
Brandt, Thomas, Glaser, Mirjam, Strupp, Michael, Wagner, Judith N.   +3 more
core   +1 more source

Whose Care Matters? The Protective Role of Perceived Care in the Long‐Term Physical Health Consequences of Adolescent Loneliness

Journal of Adolescence, EarlyView.
ABSTRACT Introduction Loneliness has been associated with physical health outcomes, including an increased risk of cardiovascular disease (CVD). While much of the research has focused on older adults, less is known about whether loneliness during adolescence is related to CVD risk later in life.
Keun Young Kwon, Ha Ly Choi, Skylar Biyang Sun, Xiaohang Zhao, Jinho Kim   +4 more
wiley   +1 more source

Osteoblastic differentiation improved by bezafibrate-induced mitochondrial biogenesis in deciduous tooth-derived pulp stem cells from a child with Leigh syndrome

Biochemistry and Biophysics Reports, 2019
Leigh syndrome is a highly heterogeneous condition caused by pathological mutations in either nuclear or mitochondrial DNA regions encoding molecules involved in mitochondrial oxidative phosphorylation, in which many organs including the brain can be ...
Xu Han, Kentaro Nonaka, Hiroki Kato, Haruyoshi Yamaza, Hiroshi Sato, Takashi Kifune, Yuta Hirofuji, Keiji Masuda   +7 more
doaj   +1 more source

MT-ND5 gene mutation-associated mitochondrial complex I cytopathy in Leigh syndrome presenting as writer’s cramp: A case report

Annals of Movement Disorders, 2021
Leigh syndrome is a classical mitochondrial cytopathy with multisystemic presentation that can lead to death in the first few years of life; however, cases in adults have also been reported.
Vikash Agarwal, Dolly Mushahary, Anil Venkitachalam, Sachin Suresh Babu, Dinesh Nayak   +4 more
doaj   +1 more source

Discordance of Dopaminergic Dysfunction and Subcortical Atrophy by α‐Synuclein Status in Sporadic and Genetic Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Parkinson's disease (PD) is characterized by predominantly neuronal α‐synuclein pathology and dopaminergic dysfunction. Cerebrospinal fluid (CSF) seeding amplification assays (SAA) detect α‐synuclein aggregates in vivo, but not all patients with PD have a positive SAA.
Michael Tran Duong, Sandhitsu R. Das, Pulkit Khandelwal, Joaquin A. Vizcarra, Yue Li, Long Xie, Paul A. Yushkevich, Leslie M. Shaw, Jacob G. Dubroff, Parkinson's Progression Markers Initiative, Kenneth Marek, Shirley Lasch, Caroline Tanner, Tanya Simuni, Christopher Coffey, Karl Kieburtz, Renee Wilson, Brit Mollenhauer, Site Investigator, Douglas Galasko, Site Investigator, Tatiana Foroud, Lana Chahine, Andrew Siderowf, John Seibyl, Arthur Toga, Andrew Singleton, Daniel Weintraub, John Trojanowski, Leslie Shaw, Duygu Tosun‐Turgut, Kathleen Poston, Susan Bressman, Kalpana M. Merchant, Werner Poewe, Todd Sherer, Sohini Chowdhury, Mark Frasier, Catherine Kopil, Anna Naito, Vanessa Arnedo, Ray Dorsey, Cynthia Casaceli, Imaging Core, Nichole Daegele, Justin Albani1 Statistics Core, Chelsea Caspell‐Garcia, Liz Uribe, Eric Foster, Jeff Long, Nick Seedorff, Karen Crawford, Danielle Elise Smith, Paola Casalin, Giulia Malferrari, Cheryl Halter, David Russell, Stewart Factor, Penelope Hogarth, David Standaert, Amy Amara, Robert Hauser, Joseph Jankovic, Matthew Stern, Shu‐Ching Hu, Gretchen Todd, Rachel Saunders‐Pullman, Irene Richard, Marie H Saint‐Hilaire, Klaus Seppi, Holly Shill, Hubert Fernandez, Claudia Trenkwalder, Wolfgang Oertel, Daniela Berg, Kathrin Brockman, Isabel Wurster, Liana Rosenthal, Yen Tai, Nicola Pavese, Paolo Barone, Stuart Isaacson, Alberto Espay, Dominic Rowe, Melanie Brandabur, James Tetrud, Grace Liang, Alex Iranzo, Eduardo Tolosa, Karen Marder, Maria de Arriba Sanchez, Leonidis Stefanis, Maria Jose Marti, Javier Ruiz Martinez, Jean‐Christophe Corvol, Jan O Assly, Salima Brillman, Nir Giladi, Debra Smejdir, Julia Pelaggi, Farah Kausar, Linda Rees, Barbara Sommerfield, Madeline Cresswell, Courtney Blair, Karen Williams, Grace Zimmerman, Stephanie Guthrie, Ashlee Rawlins, Leigh Donharl, Christine Hunter, Baochan Tran, Abigail Darin, Carly Linder, Marne Baca, Heli Venkov, Cathi‐Ann Thomas, Raymond James, Beatrice Heim, Paul Deritis, Fabienne Sprenger, Deborah Raymond, Diana Willeke, Zoran Obradov, Jennifer Mule, Nancy Monahan, Katharina Gauss, Deborah Fontaine, Daniel Szpak, Arita McCoy, Becky Dunlop, Laura Marie Payne, Susan Ainscough, Lisbeth Carvajal, Rebecca Silverstein, Kristy Espay, Madelaine Ranola, Elisabet Mondragon Rezola, Helen Mejia Santana, Maria Stamelou, Alicia Garrido, Stephanie Carvalho, Anne Grete Kristiansen, Krista Specketer, Anat Mirlman, Maurizio Facheris, Holly Soares, Mark A. Mintun, Jesse Cedarbaum, Peggy Taylor, Danna Jennings, Lawrence Slieker, Brian McBride, Colin Watson, Etienne Montagut, Zulfiqar Haider Sheikh, Baris Bingol, Remi Forrat, Pablo Sardi, Tanya Fischer, Alastair D. Reith, Jan Egebjerg, Lone Frydelund Larsen, Nathalie Breysse, Didier Meulien, Barbara Saba, Vera Kiyasova, Chris Min, Thomas McAvoy, Robert Umek, Philip Iredale, Jeremy Edgerton, Susan De Santi, Christian Czech, Frank Boess, Jeffrey Sevigny, Thomas Kremer, Igor Grachev, Kaplana Merchant, Andreja Avbersek, Pierandrea Muglia, Alexandra Stewart, Rene Prashad, Johannes Taucher, Andrew Siderowf, David A. Wolk, Ilya M. Nasrallah   +186 more
wiley   +1 more source

Leigh syndrome in an infant: autopsy and histopathology findings

Autopsy and Case Reports, 2021
Leigh syndrome is an inherited neurodegenerative disorder of infancy that typically manifests between 3 and 12 months of age. The common neurological manifestations are developmental delay or regression, progressive cognitive decline, dystonia, ataxia ...
Arushi Gahlot Saini, Debjyoti Chatterjee, Chandana Bhagwat, Sameer Vyas, Savita Verma Attri   +4 more
doaj