Results 41 to 50 of about 12,985,405 (284)

Case report: malignant hypertension associated with catecholamine excess in a patient with Leigh syndrome

Clinical Hypertension, 2023
Background Leigh syndrome is a progressive neurodegenerative mitochondrial disorder caused by multiple genetic etiologies with multisystemic involvement that mostly affecting the central nervous system with high rate of premature mortality.
Ana Solis, Joshua Shimony, Marwan Shinawi, Kevin T. Barton   +3 more
doaj   +1 more source

Disease and psychological status in ankylosing spondylitis. [PDF]

, 2006
Objectives. Psychological factors may be important in the assessment and management of ankylosing spondylitis (AS). Our primary objective was to describe associations between disease and psychological status in AS, using AS-specific assessment tools and ...
Goodacre, J. A., Goodacre, L., Grennan, D., Martindale, J., Smith, J., Sutton, Chris J   +5 more
core   +1 more source

Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients

Endocrine Regulations, 2018
Objectives. Leigh syndrome is a progressive early onset neurodegenerative disease typically presenting with psychomotor regression, signs of brainstem and/or basal ganglia disease, lactic acidosis, and characteristic magnetic resonance imaging findings ...
Danis Daniel, Brennerova Katarina, Skopkova Martina, Kurdiova Timea, Ukropec Jozef, Stanik Juraj, Kolnikova Miriam, Gasperikova Daniela   +7 more
doaj   +1 more source

Genetic and Mitochondrial Metabolic Analyses of an Atypical Form of Leigh Syndrome

Frontiers in Cell and Developmental Biology, 2021
In this study, we aimed to establish the mitochondrial etiology of the proband’s progressive neurodegenerative disease suggestive of an atypical Leigh syndrome, by determining the proband’s pathogenic variants.
Martine Uittenbogaard, Kuntal Sen, Matthew Whitehead, Christine A. Brantner, Yue Wang, Lee-Jun Wong, Andrea Gropman, Anne Chiaramello   +7 more
doaj   +1 more source

Corrigendum: an overview of MicroRNAs as biomarkers of ALS [PDF]

, 2019
A Corrigendum on An Overview of MicroRNAs as Biomarkers of ALS by Joilin, G., Leigh, P. N., Newbury, S. F., and Hafezparast, M. (2019). Front. Neurol. 10:186.
Hafezparast, Majid, Joilin, Greig, Leigh, P Nigel, Newbury, Sarah F   +3 more
core   +1 more source

Modulation of the GABAergic pathway for the treatment of fragile X syndrome. [PDF]

, 2014
Fragile X syndrome (FXS) is the most common genetic cause of intellectual disability and the most common single-gene cause of autism. It is caused by mutations on the fragile X mental retardation gene (FMR1) and lack of fragile X mental retardation ...
Hagerman, Randi J, Hare, Emma B, Lozano, Reymundo   +2 more
core   +1 more source

Defining an epidemic:The body mass index in British and American obesity research 1960-2000 [PDF]

, 2014
Between the 1970s and the mid‐1990s the body mass index (BMI) became the standard means of assessing obesity both in populations and in individuals, replacing previously diverse and contested definitions of excess body weight.
Amsterdamska, Aronowitz, Aronowitz, Bacon, Baird, Baird, Berridge, Berridge, Berridge, Berridge, Bowker, Bray, Bray, Bray, British Nutrition Foundation (BNF), Busch, Campos, Craddock, Crawford, Department of Health (DoH), Department of Health and Social Security/Medical Research Council (DHSS/MRC), Desrosieres, Epstein, Fletcher, Fye, Gaesser, Gard, Garrow, Garrow, Garrow, Garrow, Government Office for Science, Hacking, Hacking, Hautvast, Hilgartner, James, James, Jasanoff, Jasanoff, Keys, Kromhout, Kuczmarski, Kuczmarski, Kuhn, Monaghan, National Institutes of Health Panel on Obesity, O'Connell, Oddy, Office of Health Economics, Oliver, Oppenheimer, Oppenheimer, Pickersgill, Pickersgill, Pringle, Rothstein, Royal College of Physicians, Scottish Intercollegiate Guidelines Network (SIGN), Sims, Smith, Timmermann, Timmermans, Timmermans, Timmermans, Tunstall-Pedoe, VanItalllie, West, WHO, WHO, World Health Organization (WHO)   +70 more
core   +1 more source

Peripheral macrophages drive CNS disease in the Ndufs4(−/−) model of Leigh syndrome

Brain Pathology, 2023
Subacute necrotizing encephalopathy, or Leigh syndrome (LS), is the most common pediatric presentation of genetic mitochondrial disease. LS is a multi‐system disorder with severe neurologic, metabolic, and musculoskeletal symptoms.
Allison R. Hanaford, A. Khanna, V. Truong, K. James, Yihan Chen, M. Mulholland, Bernhard Kayser, Ryan W Liao, M. Sedensky, Phil G. Morgan, Nathan Baerchst, V. Kalia, S. Sarkar, Simon C. Johnson   +13 more
semanticscholar   +1 more source

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases [PDF]

, 2019
TPK1 mutations are a rare, but potentially treatable, cause of thiamine deficiency. Diagnosis is challenging given the phenotypic overlap that exists with other metabolic and neurological disorders.
Bugiardini, E, Feichtinger, RG, Hanna, MG, Heales, S, Houlden, H, Mayr, JA, Pitceathly, RDS, Pittman, AM, Poole, OV, Pope, S, Quinlivan, R, Woodward, CE   +11 more
core   +2 more sources

Exploring mTOR inhibition as treatment for mitochondrial disease

Annals of Clinical and Translational Neurology, 2019
Leigh syndrome and MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke‐like episodes) are two of the most frequent pediatric mitochondrial diseases. Both cause severe morbidity and neither have effective treatment.
Abigail Sage‐Schwaede, Kristin Engelstad, Rachel Salazar, Angela Curcio, Alexander Khandji, James H. Garvin Jr, Darryl C. De Vivo   +6 more
doaj   +1 more source