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Quoted phrase not found in phrase index: "Combined oxidative phosphorylation deficiency 33"
Page 1
Monogenic variants in dystonia: an exome-wide sequencing study.
Zech M, Jech R, Boesch S, Škorvánek M, Weber S, Wagner M, Zhao C, Jochim A, Necpál J, Dincer Y, Vill K, Distelmaier F, Stoklosa M, Krenn M, Grunwald S, Bock-Bierbaum T, Fečíková A, Havránková P, Roth J, Příhodová I, Adamovičová M, Ulmanová O, Bechyně K, Danhofer P, Veselý B, Haň V, Pavelekova P, Gdovinová Z, Mantel T, Meindl T, Sitzberger A, Schröder S, Blaschek A, Roser T, Bonfert MV, Haberlandt E, Plecko B, Leineweber B, Berweck S, Herberhold T, Langguth B, Švantnerová J, Minár M, Ramos-Rivera GA, Wojcik MH, Pajusalu S, Õunap K, Schatz UA, Pölsler L, Milenkovic I, Laccone F, Pilshofer V, Colombo R, Patzer S, Iuso A, Vera J, Troncoso M, Fang F, Prokisch H, Wilbert F, Eckenweiler M, Graf E, Westphal DS, Riedhammer KM, Brunet T, Alhaddad B, Berutti R, Strom TM, Hecht M, Baumann M, Wolf M, Telegrafi A, Person RE, Zamora FM, Henderson LB, Weise D, Musacchio T, Volkmann J, Szuto A, Becker J, Cremer K, Sycha T, Zimprich F, Kraus V, Makowski C, Gonzalez-Alegre P, Bardakjian TM, Ozelius LJ, Vetro A, Guerrini R, Maier E, Borggraefe I, Kuster A, Wortmann SB, Hackenberg A, Steinfeld R, Assmann B, Staufner C, Opladen T, Růžička E, Cohn RD, Dyment D, Chung WK, Engels H, Ceballos-Baumann A, Pl… See abstract for full author list ➔ Zech M, et al. Lancet Neurol. 2020 Nov;19(11):908-918. doi: 10.1016/S1474-4422(20)30312-4. Lancet Neurol. 2020. PMID: 33098801 Free PMC article.
BACKGROUND: Dystonia is a clinically and genetically heterogeneous condition that occurs in isolation (isolated dystonia), in combination with other movement disorders (combined dystonia), or in the context of multisymptomatic phenotypes (isolated or combined …
BACKGROUND: Dystonia is a clinically and genetically heterogeneous condition that occurs in isolation (isolated dystonia), in combination …
Lactate dyscrasia: a novel explanation for amyotrophic lateral sclerosis.
Vadakkadath Meethal S, Atwood CS. Vadakkadath Meethal S, et al. Neurobiol Aging. 2012 Mar;33(3):569-81. doi: 10.1016/j.neurobiolaging.2010.04.012. Epub 2010 Jun 11. Neurobiol Aging. 2012. PMID: 20541840 Review.
The molecular events leading to the dysregulation of the MNLS and the dismantling of NMJ are explained in the context of known ALS familial mutations and age-related endocrine dyscrasia. Combination drug therapies that inhibit lactate accumulation at the NMJ, enhance respi …
The molecular events leading to the dysregulation of the MNLS and the dismantling of NMJ are explained in the context of known ALS familial …
Association of Mitochondrial DNA Copy Number With Cardiovascular Disease.
Ashar FN, Zhang Y, Longchamps RJ, Lane J, Moes A, Grove ML, Mychaleckyj JC, Taylor KD, Coresh J, Rotter JI, Boerwinkle E, Pankratz N, Guallar E, Arking DE. Ashar FN, et al. JAMA Cardiol. 2017 Nov 1;2(11):1247-1255. doi: 10.1001/jamacardio.2017.3683. JAMA Cardiol. 2017. PMID: 29049454 Free PMC article.
IMPORTANCE: Mitochondrial dysfunction is a core component of the aging process and may play a key role in atherosclerotic cardiovascular disease. Mitochondrial DNA copy number (mtDNA-CN), which represents the number of mitochondria per cell and number of mitochon …
IMPORTANCE: Mitochondrial dysfunction is a core component of the aging process and may play a key role in atherosclerotic cardiovascu …
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting.
Lindner M, Hoffmann GF, Matern D. Lindner M, et al. J Inherit Metab Dis. 2010 Oct;33(5):521-6. doi: 10.1007/s10545-010-9076-8. Epub 2010 Apr 7. J Inherit Metab Dis. 2010. PMID: 20373143 Review.
Consequently, a significant prevalence and evidence for a clear benefit of NBS is proven for medium-chain acyl-CoA dehydrogenase deficiency (MCAD) only in countries with a high percentage of Caucasians, with very-long-chain acyl-CoA dehydrogenase deficiency (VLCAD) …
Consequently, a significant prevalence and evidence for a clear benefit of NBS is proven for medium-chain acyl-CoA dehydrogenase deficien …
Clinical application of sequencing-based methods for parallel preimplantation genetic testing for mitochondrial DNA disease and aneuploidy.
Spath K, Babariya D, Konstantinidis M, Lowndes J, Child T, Grifo JA, Poulton J, Wells D. Spath K, et al. Fertil Steril. 2021 Jun;115(6):1521-1532. doi: 10.1016/j.fertnstert.2021.01.026. Epub 2021 Mar 19. Fertil Steril. 2021. PMID: 33745725 Free article.
OBJECTIVE: To validate and apply a strategy permitting parallel preimplantation genetic testing (PGT) for mitochondrial DNA (mtDNA) disease and aneuploidy (PGT-A). DESIGN: Preclinical test validation and case reports. ...CONCLUSIONS: Considering the high aneuploidy rate, s …
OBJECTIVE: To validate and apply a strategy permitting parallel preimplantation genetic testing (PGT) for mitochondrial DNA (mtDNA) d …
N-Hydroxy-N-Propargylamide Derivatives of Ferulic Acid: Inhibitors of Cholinesterases and Monoamine Oxidases.
Bautista-Aguilera ÓM, Alonso JM, Catto M, Iriepa I, Knez D, Gobec S, Marco-Contelles J. Bautista-Aguilera ÓM, et al. Molecules. 2022 Nov 1;27(21):7437. doi: 10.3390/molecules27217437. Molecules. 2022. PMID: 36364263 Free PMC article.
Alzheimer's disease (AD) is a complex disorder characterized by impaired neurotransmission in cholinergic and monoaminergic neurons, which, in combination with the accumulation of misfolded proteins and increased oxidative stress, leads to the typical features of th …
Alzheimer's disease (AD) is a complex disorder characterized by impaired neurotransmission in cholinergic and monoaminergic neurons, which, …
Most Influential Physicochemical and In Vitro Assay Descriptors for Hepatotoxicity and Nephrotoxicity Prediction.
Rana P, Kogut S, Wen X, Akhlaghi F, Aleo MD. Rana P, et al. Chem Res Toxicol. 2020 Jul 20;33(7):1780-1790. doi: 10.1021/acs.chemrestox.0c00040. Epub 2020 May 8. Chem Res Toxicol. 2020. PMID: 32338883
In silico physicochemical property calculations and in vitro assays have been utilized separately in the early stages of the drug discovery and development process to predict drug safety. In this study, we combined physicochemical properties and in vitro cytotoxicit …
In silico physicochemical property calculations and in vitro assays have been utilized separately in the early stages of the drug discovery …
Parkinson's disease: SNCA-, PARK2-, and LRRK2- targeting microRNAs elevated in cingulate gyrus.
Tatura R, Kraus T, Giese A, Arzberger T, Buchholz M, Höglinger G, Müller U. Tatura R, et al. Parkinsonism Relat Disord. 2016 Dec;33:115-121. doi: 10.1016/j.parkreldis.2016.09.028. Epub 2016 Sep 28. Parkinsonism Relat Disord. 2016. PMID: 27717584
Five of these 13 microRNAs (-144, -199b, -221, -488, -544) were also found upregulated by SYBR Green qRT-PCR and are predicted to regulate either SNCA, PARK2, LRRK2 or combinations thereof. Consistently, expression of SNCA, PARK2, and LRRK2 was reduced in patients. …
Five of these 13 microRNAs (-144, -199b, -221, -488, -544) were also found upregulated by SYBR Green qRT-PCR and are predicted to reg …
Cardiac manifestations in oxidative phosphorylation disorders of childhood.
Yaplito-Lee J, Weintraub R, Jamsen K, Chow CW, Thorburn DR, Boneh A. Yaplito-Lee J, et al. J Pediatr. 2007 Apr;150(4):407-11. doi: 10.1016/j.jpeds.2006.12.047. J Pediatr. 2007. PMID: 17382120
OBJECTIVE: To determine the frequency, type, and severity of cardiac involvement in pediatric patients with oxidative phosphorylation (OXPHOS) disorders. STUDY DESIGN: Retrospective review of clinical and laboratory records of all patients with definitive OXPHOS dis …
OBJECTIVE: To determine the frequency, type, and severity of cardiac involvement in pediatric patients with oxidative phosphorylat …
Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.
Scaglia F, Towbin JA, Craigen WJ, Belmont JW, Smith EO, Neish SR, Ware SM, Hunter JV, Fernbach SD, Vladutiu GD, Wong LJ, Vogel H. Scaglia F, et al. Pediatrics. 2004 Oct;114(4):925-31. doi: 10.1542/peds.2004-0718. Pediatrics. 2004. PMID: 15466086
OBJECTIVES: The aim of this study was to elucidate the frequency of major clinical manifestations in children with mitochondrial disease and establish their clinical course, prognosis, and rates of survival depending on their clinical features. ...CONCLUSIONS …
OBJECTIVES: The aim of this study was to elucidate the frequency of major clinical manifestations in children with mitochondrial dise …
18 results