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searching for Mitochondrial disease 62 found (173 total)

MT-TH (964 words) [view diff] exact match in snippet view article find links to article

exhibit symptoms of cardiomyopathy without other common signs of mitochondrial disease such as neurological abnormalities. It is unclear why such mutations

TIMM8A (1,902 words) [view diff] exact match in snippet view article find links to article

Mohr-Tranebjaerg syndrome; MTS/DFN-1) and it is postulated that MTS/DFN-1 is a mitochondrial disease caused by a defective mitochondrial protein import system. The TIMM8A

Rita Horvath (345 words) [view diff] exact match in snippet view article find links to article

Hungarian neurologist and researcher. She completed her PhD on mitochondrial disease and research in Munich from 1999 to 2007. She researches key molecular

Vamsi Mootha (451 words) [view diff] exact match in snippet view article find links to article

unexpected discovery that in animal models, low oxygen can alleviate mitochondrial disease. As a postdoctoral fellow he developed Gene Set Enrichment Analysis

Human Fertilisation and Embryology Act 1990 (2,394 words) [view diff] no match in snippet view article find links to article

The Human Fertilisation and Embryology Act 1990 (c. 37) is an Act of the Parliament of the United Kingdom. It created the Human Fertilisation and Embryology

Genocopy (884 words) [view diff] case mismatch in snippet view article find links to article

is Mitochondrial Disease?". United Mitochondrial Disease Foundation (UMDF). 14 January 2016. Saneto RP (2017). Genetics of Mitochondrial Disease. Advances

Sengers syndrome (688 words) [view diff] exact match in snippet view article find links to article

Sengers syndrome is a rare autosomal recessive mitochondrial disease characterised by congenital cataract, hypertrophic cardiomyopathy, muscle weakness

Robert K. Naviaux (1,399 words) [view diff] case mismatch in snippet view article find links to article

of the journal Mitochondrion. Naviaux received the 2023 United Mitochondrial Disease Foundation Vanguard Award. Naviaux received his B.S. in biological

MRC Mitochondrial Biology Unit (528 words) [view diff] exact match in snippet view article find links to article

van den Ameele - Molecular mechanisms of tissue specificity in mitochondrial disease Dr Alex Whitworth - Genetic models of neurodegenerative disease

Elamipretide (208 words) [view diff] exact match in snippet view article find links to article

mitochondrial disease". STAT. PhD, Alberto Molano (2020-01-10). "Elamipretide Failed to Meet Promise of Earlier Trial Results for..." Mitochondrial Disease

AARS2 (1,626 words) [view diff] case mismatch in snippet view article find links to article

funding research for the ultra-rare Mitochondrial ARS genes. United Mitochondrial Disease Foundation (UMDF) MitoAction The Lily Foundation (United Kingdom)

Nick Lane (548 words) [view diff] exact match in snippet view article find links to article

& Company. ISBN 978-0-393-65148-5. Lane, Nick (29 March 2006). "Mitochondrial disease: Powerhouse of disease". Nature. 440 (7084): 600–2. Bibcode:2006Natur

Mitochondrial ribosome (1,078 words) [view diff] exact match in snippet view article find links to article

(March 2003). "Mitochondrial ribosomal proteins: candidate genes for mitochondrial disease". Genetics in Medicine. 6 (2): 73–80. doi:10.1097/01.GIM.0000117333

Sonlicromanol (2,534 words) [view diff] exact match in snippet view article find links to article

(Trolox) and Trolox-derived antioxidants were found to be promising mitochondrial disease drug candidates. To further investigate these properties, Khondrion

Allen Barnett (1,243 words) [view diff] case mismatch in snippet view article find links to article

Delaware Today. Dr. Barnett and his wife Marsha received first United Mitochondrial Disease Foundation Humanitarian Award 2001. Other awards held by Barnett

Colin Wells (actor) (154 words) [view diff] exact match in snippet view article

Wells opens up over his children's battle with life-threatening mitochondrial disease". Digital Spy. 25 June 2018. "Ex-Hollyoaks star Colin Wells: 'Finding

Frataxin (2,735 words) [view diff] exact match in snippet view article find links to article

mitochondrial dysfunction. Friedreich's ataxia is thus believed to be a mitochondrial disease caused by a mutation in the nuclear genome (specifically, expansion

Richard Treisman (550 words) [view diff] exact match in snippet view article find links to article

tb00173.x. PMC 394592. PMID 7588619. Anon (2016). "Birthday honours: Mitochondrial disease doctor recognised". BBC. This article incorporates text available

Extranuclear inheritance (1,174 words) [view diff] exact match in snippet view article find links to article

Schwartz; John Vissing (2003). "New patterns of inheritance in mitochondrial disease". Biochemical and Biophysical Research Communications. 310 (2):

COQ9 (631 words) [view diff] exact match in snippet view article find links to article

primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease". Am. J. Hum. Genet. 84 (5): 558–66. doi:10.1016/j.ajhg.2009.03

Barth syndrome (1,761 words) [view diff] exact match in snippet view article find links to article

PG, Scholte HR, Berden JA, et al. (December 1983). "An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes"

Joe Wise (330 words) [view diff] case mismatch in snippet view article find links to article

National Championships, San Antonio, Texas Ambassador for United Mitochondrial Disease Foundation Pacific Swimming LSC Athlete Representative San Francisco

Propofol infusion syndrome (863 words) [view diff] exact match in snippet view article find links to article

administration, inadequate carbohydrate intake and subclinical mitochondrial disease. Treatment options are limited and are usually supportive, including

Dysautonomia (2,579 words) [view diff] exact match in snippet view article find links to article

pressure support mode in a patient with autonomic dysfunction and mitochondrial disease". Journal of Clinical Sleep Medicine. 17 (4): 853–857. doi:10.5664/jcsm

SDHA (2,217 words) [view diff] exact match in snippet view article find links to article

SJ, Land JM, et al. (November 2006). "Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II". Molecular Genetics

Vardit Ravitsky (1,974 words) [view diff] exact match in snippet view article find links to article

Vardit Ravitsky. "How bans on germline editing deprive patients with mitochondrial disease". Nature Biotechnology 37: 589–592, 2019. Vardit Ravitsky. "The

Aminoacyl tRNA synthetase (3,691 words) [view diff] exact match in snippet view article find links to article

Karimiani EG (2018). "Expanding the clinical phenotype of IARS2-related mitochondrial disease". BMC Med Genet. 19 (1) 196. doi:10.1186/s12881-018-0709-3. PMC 6233262

Optic neuropathy (2,615 words) [view diff] exact match in snippet view article find links to article

hereditary optic neuropathy (LHON) is the most frequently occurring mitochondrial disease, and this inherited form of acute or subacute vision loss predominantly

Richard E. Frye (1,056 words) [view diff] exact match in snippet view article find links to article

"Unique acyl-carnitine profiles are potential biomarkers for acquired mitochondrial disease in autism spectrum disorder". Translational Psychiatry. 3 (1): e220–

PREPL (462 words) [view diff] exact match in snippet view article find links to article

gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease". Am J Hum Genet. 69 (4): 869–875. doi:10.1086/323624. PMC 1226072

Buchanan Medal (1,114 words) [view diff] exact match in snippet view article find links to article

outstanding contributions to biomedicine particularly in relation to mitochondrial disease, including the development of a method to prevent their transmission

Jack Black (6,877 words) [view diff] case mismatch in snippet view article find links to article

in the music video for "Tribute". Tenacious D helped the United Mitochondrial Disease Foundation raise awareness of these diseases and funds for the organization

PPM1B (831 words) [view diff] exact match in snippet view article find links to article

gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease". Am. J. Hum. Genet. 69 (4): 869–75. doi:10.1086/323624. PMC 1226072

Newcastle University School of Medicine (3,559 words) [view diff] exact match in snippet view article find links to article

healthy mitochondrial DNA from donor eggs into eggs of women carrying mitochondrial disease, thereby preventing transmission of mitochondrial DNA diseases.

NDUFS3 (1,716 words) [view diff] exact match in snippet view article find links to article

(C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease". American Journal of Human Genetics. 84 (6): 718–27. doi:10.1016/j

NDUFB3 (718 words) [view diff] exact match in snippet view article find links to article

Thorburn DR, Mootha VK (Jan 2012). "Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing". Science Translational

SUCLA2 (1,745 words) [view diff] exact match in snippet view article find links to article

Society TM (November 2009). "A modern approach to the treatment of mitochondrial disease". primary source. Current Treatment Options in Neurology. 11 (6):

Vegetative state (5,763 words) [view diff] exact match in snippet view article find links to article

metabolic diseases including urea cycle disorders, Reye syndrome, and mitochondrial disease Systemic infection and sepsis Hepatic encephalopathy In addition

Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (592 words) [view diff] exact match in snippet view article find links to article

"Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease". Neurology. 49 (1): 239–245. doi:10.1212/wnl.49.1.239. ISSN 0028-3878

Cyanide poisoning (5,762 words) [view diff] exact match in snippet view article find links to article

S, Goldstein A, Koenig MK (2015). "Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society"

National Vaccine Injury Compensation Program (3,041 words) [view diff] exact match in snippet view article find links to article

studies show whether childhood vaccines can cause or contribute to mitochondrial disease, and there is no scientific evidence that vaccinations damage the

2-Methyl-3-hydroxybutyryl-CoA (86 words) [view diff] case mismatch in snippet view article find links to article

X-linked Inborn Error of Isoleucine Metabolism that May Mimic a Mitochondrial Disease". Pediatric Research. 58 (3): 488–491. doi:10.1203/01.pdr.0000176916

Lumbar puncture (5,595 words) [view diff] exact match in snippet view article find links to article

the presence of cancer of the CNS, multiple sclerosis, heritable mitochondrial disease, low blood pressure, low serum phosphorus, respiratory alkalosis

RRM2B (1,522 words) [view diff] case mismatch in snippet view article find links to article

PMID 19015526. Gorman GS, Taylor RW (April 17, 2014). "RRM2B-Related Mitochondrial Disease". GeneReviews. University of Washington, Seattle. PMID 24741716

Luca Scorrano (1,004 words) [view diff] exact match in snippet view article find links to article

June 2015). "Opa1 overexpression ameliorates the phenotype of two mitochondrial disease mouse models". Cell Metabolism. 21 (6): 845–854. doi:10.1016/j.cmet

Somatic cell nuclear transfer (6,037 words) [view diff] exact match in snippet view article find links to article

diseases into a healthy oocyte prevents the inheritance of the mitochondrial disease. This treatment does not involve cloning but would produce a child

MPV17 (1,316 words) [view diff] exact match in snippet view article find links to article

Carr SA, Mootha VK (May 2006). "Systematic identification of human mitochondrial disease genes through integrative genomics". Nature Genetics. 38 (5): 576–82

Twinkle (protein) (1,860 words) [view diff] exact match in snippet view article

helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice". Proc Natl Acad Sci U S A. 102 (49): 17687–92. Bibcode:2005PNAS

NDUFAF5 (1,112 words) [view diff] exact match in snippet view article find links to article

C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease". American Journal of Human Genetics. 83 (4): 468–78. doi:10.1016/j

NDUFAF4 (1,142 words) [view diff] exact match in snippet view article find links to article

(C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease". American Journal of Human Genetics. 84 (6): 718–27. doi:10.1016/j

Jack Black filmography (320 words) [view diff] case mismatch in snippet view article find links to article

the show on October 22, 2001. Jack won $125,000 for the United Mitochondrial Disease Foundation. Hosted by Regis Philbin 2002 2002 MTV Movie Awards Himself

COX10 (1,374 words) [view diff] exact match in snippet view article find links to article

(December 2013). "COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood". JAMA Neurology. 70 (12): 1556–61

Charlie Gard case (12,397 words) [view diff] exact match in snippet view article find links to article

child has been dealt with at a hospital which has huge expertise in mitochondrial disease and is being offered a break in a hospital that has never published

COA6 (1,277 words) [view diff] exact match in snippet view article find links to article

DR, Mootha VK (January 2012). "Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing". Science Translational

SCO1 (1,861 words) [view diff] exact match in snippet view article find links to article

of SCO1 over SCO2 in mammalian tissues: implications for human mitochondrial disease". The American Journal of Pathology. 177 (5): 2541–8. doi:10.2353/ajpath

UQCC2 (1,063 words) [view diff] exact match in snippet view article find links to article

DR, Mootha VK (January 2012). "Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing". Science Translational

Spike-and-wave (3,698 words) [view diff] exact match in snippet view article find links to article

waking and sleeping states. Symptoms of OS include: Genetic defects Mitochondrial disease Mitochondrial respiratory chain defects Inborn errors of metabolism

Mitochondrial optic neuropathies (3,717 words) [view diff] exact match in snippet view article find links to article

findings in children and young adults with genetically verified mitochondrial disease". British Journal of Ophthalmology. 94 (1): 121–7. doi:10.1136/bjo

2016 Birthday Honours (23,461 words) [view diff] case mismatch in snippet view article find links to article

For services to Health Care Research and Treatment particularly Mitochondrial Disease. Professor Stanley William Wells, CBE, Shakespeare Scholar and Honorary

2019 Queen's Birthday Honours (Australia) (16,576 words) [view diff] exact match in snippet view article

Mary Sue – For significant service to medicine, particularly to mitochondrial disease. Dr William Francis Sultmann – For significant service to education

Minimal genome (5,755 words) [view diff] exact match in snippet view article find links to article

M; Taylor, Robert W (2016-09-23). "The genetics and pathology of mitochondrial disease: Mitochondrial genetic disease". The Journal of Pathology. 241 (2):

2021 Birthday Honours (20,535 words) [view diff] case mismatch in snippet view article find links to article

Chief Executive, Lily Foundation. For services to People with Mitochondrial Disease. Raymond Thomas Dainton. Fundraiser, Special Schools in Bolton.