Results 41 to 50 of about 27,503 (244)

DETECTION OF LEIGH'S DISEASE IN FIBROBLASTS [PDF]

Pediatric Research, 1974
When tested, all autopsy-proven patients with Leigh's disease have had an inhibitor to the synthesis of thiamine triphosphate in their urine. The inhibitor is also present in obligate carriers and thiamine treatment produces a drop in the inhibition (Peds 51: 710, 1973). Normally the inhibitor is not detectable in fibroblasts. However, when fibroblasts
Jerome V Murphy, Warren F Diven, Linda Craig   +2 more
openaire   +1 more source

Head Trauma as a Precipitating Factor for Late-onset Leigh Syndrome: a Case Report

Emergency, 2016
Leigh syndrome is a severe progressive neurodegenerative disorder with different clinical presentationsthat usually becomes apparent in the first year of life and rarely in late childhood and elderly years.
Farzad Ashrafi, Hossein Pakdaman, Mehran Arabahmadi, Behdad Behnam   +3 more
doaj   +1 more source

Genotype–phenotype correlation in IARS2‐related diseases: A case report and review of literature

Clinical Case Reports, 2022
Isoleucyl‐tRNA synthetase 2 (IARS2) encodes mitochondrial isoleucine‐tRNA synthetase. Pathogenic variants in the IARS2 gene are associated with mitochondrial disease.
Jariya Upadia, Yuwen Li, Nicolette Walano, Stephen Deputy, Kelly Gajewski, Hans C. Andersson   +5 more
doaj   +1 more source

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit, Chiranth K. Nagaraj, Jackson S. Newell, Kim Truc Nguyen, Xilal Y. Rima, Jacob Doon‐Ralls, Eduardo Reátegui, Jeffrey M. Statland, Rabi Tawil, Kevin M. Flanigan, Scott Q. Harper, Nizar Y. Saad   +11 more
wiley   +1 more source

Bilateral hypertrophic olivary nucleus degeneration on magnetic resonance imaging in children with Leigh and Leigh-like syndrome [PDF]

, 2014
Objective: Bilateral hypertrophic olivary degeneration on brain MRI has been reported in a few metabolic, genetic and neurodegenerative disorders, including mitochondrial disorders.
Taly, A. B., Bindu, P. S., Arvinda, H. R., Thangaraj, K., Gayathri, N., Bharath, M. M. Srinivas, Ranjith, D., Nagappa, M., Govindaraju, C., Sinha, S., Khan, N. A., Sonam, K.   +11 more
core   +1 more source

Long‐Term Neurologic Exam Findings in People Diagnosed and Treated During Acute HIV Infection

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Evaluate clinical and laboratory correlates of abnormal neurologic exam findings after acute HIV infection (AHI). Methods Participants from the RV254/SEARCH 010 cohort in Bangkok underwent standardized neurologic examinations at Weeks 0 (AHI), 12, 96, and 288 following antiretroviral therapy (ART).
Kathryn B. Holroyd, Tyler Hamby, Carlo Sacdalan, Somchai Sriplienchan, Pathariya Promensa, Luxenaree Poonpitak, Netsiri Dumrongpisutikul, Eugène Kroon, Sandhya Vasan, Robert Paul, Ferron O'Campo, Lydie Trautmann, Phillip Chan, Serena Spudich, on behalf of the RV254/SEARCH 010 Study Team, Julie Ake, Sandhya Vasan, Lydie Trautmann, Merlin Robb, Trevor Crowell, Donn Colby, Diane Bolton, Shelly Krebs, Leigh Ann Eller, Morgane Rolland, Rasmi Thomas, Dominic Paquin Proulx, Suteeraporn Pinyakorn, Tyler Hamby, Mark de Souza, Ellen Turk, Amber Moodley, Gerald Quarles, Jintanat Ananworanich, Denise Hsu, Victoria Polonis, Nelson Michael, Sheila Peel, COL Eric Garges, Alexandra Schuetz, Siriwat Akapirat, Bessara Nantapinit, Pornsuk Visudhiphan, Saowanit Getchalarat, Nampueng Churikanont, Sangsulee Thamakaison, Somchai Sriplienchan, Carlo Sacdalan, Pathariya Promsena, Luxe‐naree Poonpitak, Eugene Kroon, Nitiya Chomchey, Jintana Intasan, Varaporn Pothipala, Ferron Ocampo, Nittaya Phanuphak, Nipat Teeratakulpisan, Yuwaree Pichitchok, Anchalee Avihingsanon, Opass Putcharoen, Kiat Ruxrungtham, Thanyawee Puthanakit, Sopark Manasnayakorn, Phandee Watanaboonyongcharoen, Rungsun Rerknimitr, Irini Sereti, Daniel Douek, Eli Bortiz, Frank Maldarelli, Mary Kearney, Serena Spudich, Phillip Chan, Lishomwa Ndhlovu, Guinevere Li, Michael Corley, Victor Valcour, Peter Hunt, Jacob Estes, Afam Okoye, Jeff Lifson, Claire Deleage, Nicolas Chomont, Andres Finzi, Lyle McKinnon, Henrik Zetterberg, Robert Siliciano, Robert Paul, Julie Mannarino, Jonathan Li, John Mellors, Josh Cytkor, Dan Barouch, Michael Seaman, Boris Juelg, Alex Shalek, Timothy Schacker, Ashley Haase, Mario Stevenson, Wenjun Li, Arthur Kim, Sharon Lewin, Adam Carrico, Susana Valente, Fred Hutchinson, Josh Schiffer, Guido Ferrari, Beau Ances, Alberto Bosque, Katharine Bar, Killian Pohl, David Ho, Yaoxing Huang, Michael Busch, Mohamed Abdel‐Mohsen, Johanna Gostner, Brian Agan, Fatah Kashanchi, Greg Laird, Kathryn Holroyd   +118 more
wiley   +1 more source

Clinical and molecular survey in 124 Chinese patients with Leigh or Leigh-like syndrome

, 2007
Leigh syndrome is the most common mitochondrial disorder in children characterized by necrotic lesions in the central nervous system. Both mitochondrial DNA (mtDNA) and nuclear DNA defects in the mitochondrial respiratory chain can lead to this disease ...
X. Y. Wang, Y. Yuan, X. R. Wu, Y. Zhang, Yang, Y. L., Y. L. Yang, Zhang, Y., Cai, X., Xiao, J. X., Wang, X. Y., X. Cai, J. Qin, Sun, F., Qin, J., Y. H. Zhang, Zhang, Y. H., N. Qian, Qian, N., Wang, Z. X., Wu, X. R., J. X. Xiao, Z. X. Wang, Qi, Y., Jiang, Y. W., Yuan, Y., Y. Qi, Y. W. Jiang, F. Sun   +27 more
core   +1 more source

Natural History of Leigh Syndrome: A Study of Disease Burden and Progression [PDF]

, 2021
\ua9 2021 The Authors. Annals of Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association. Objective: This observational cohort study aims to quantify disease burden over time, establish disease progression rates, and ...
Lim AZ, Simmons L, McFarland R, Nesbitt V, Gorman GS, Alston CL, Blain A, Blakely EL, Taylor RW, Wassmer E, Turnbull DM, Ng YS, Jiminez-Moreno C, Santra S   +13 more
core  

Multidimensional Cellular Micro‐Compartments to Model Invasive Lobular Carcinoma Dormancy

Advanced Healthcare Materials, EarlyView.
Invasive lobular carcinoma (ILC) is an understudied subtype of breast cancer that is susceptible to late recurrences. In this study, micro‐compartmentalization techniques spanning multiple dimensions, including 2D, pseudo‐3D, and 3D, are integrated to uncover the mechanisms underlying ILC dormancy, revealing the central role of p27Kip1.
Xilal Y. Rima, Sarmila Majumder, Divya S. Patel, Chunyu Hu, Hong Li, Xin Huang, Kim Truc Nguyen, Jacob Doon‐Ralls, Chiranth K. Nagaraj, Mangesh D. Hade, Setty M. Magaña, Eswar Shankar, Xiaoli Zhang, Daniel G. Stover, Bhuvaneswari Ramaswamy, Eduardo Reátegui   +15 more
wiley   +1 more source

Functional Mapping of Neurodevelopmental Disease Pathways to Key Neurodevelopmental Processes Represented in the Developmental Neurotoxicity In Vitro Testing Battery

Advanced Science, EarlyView.
Human‐relevant methods are essential for modern chemical safety assessment. This study helps define the capabilities and boundaries of an in vitro testing battery for developmental neurotoxicity by exploring its biological applicability domain. By linking neurodevelopmental disease‐related pathways to key neurodevelopmental processes, the work enhances
Eliska Kuchovska, Kristina Bartmann, Georgea Raad, Mats Schade, Luiz Ladeira, Arif Dönmez, Jördis Klose, Nicolai Görts, Denis Polozij, Lynn‐Christin Saborowski, Farina Bendt, Bernard Staumont, Liesbet Geris, Katharina Koch, Ellen Fritsche   +14 more
wiley   +1 more source