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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 …
OPA1 mutation affects autophagy and triggers senescence in autosomal dominant optic atrophy plus fibroblasts.
Zanfardino P, Amati A, Doccini S, Cox SN, Tullo A, Longo G, D'Erchia A, Picardi E, Nesti C, Santorelli FM, Petruzzella V. Zanfardino P, et al. Hum Mol Genet. 2024 Apr 18;33(9):768-786. doi: 10.1093/hmg/ddae008. Hum Mol Genet. 2024. PMID: 38280232
In several cases of mitochondrial diseases, the underlying genetic and bioenergetic causes of reduced oxidative phosphorylation (OxPhos) in mitochondrial dysfunction are well understood. ...Our findings revealed that fibroblasts with the OPA1 mu …
In several cases of mitochondrial diseases, the underlying genetic and bioenergetic causes of reduced oxidative phos …
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 …
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 …
Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.
Feichtinger RG, Brunner-Krainz M, Alhaddad B, Wortmann SB, Kovacs-Nagy R, Stojakovic T, Erwa W, Resch B, Windischhofer W, Verheyen S, Uhrig S, Windpassinger C, Locker F, Makowski C, Strom TM, Meitinger T, Prokisch H, Sperl W, Haack TB, Mayr JA. Feichtinger RG, et al. Oxid Med Cell Longev. 2017;2017:7202589. doi: 10.1155/2017/7202589. Epub 2017 Jul 19. Oxid Med Cell Longev. 2017. PMID: 28804536 Free PMC article.
Defects in five further factors for assembly (TTC19, UQCC2, and UQCC3) or iron-sulphur cluster loading (BCS1L and LYRM7) cause complex III deficiency. Here, we report a second patient with UQCC2 deficiency. This girl was born prematurely; pregnancy was complicated b …
Defects in five further factors for assembly (TTC19, UQCC2, and UQCC3) or iron-sulphur cluster loading (BCS1L and LYRM7) cause complex III …
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 …
Metabolic complications of in utero maternal HIV and antiretroviral exposure in HIV-exposed infants.
Jao J, Abrams EJ. Jao J, et al. Pediatr Infect Dis J. 2014 Jul;33(7):734-40. doi: 10.1097/INF.0000000000000224. Pediatr Infect Dis J. 2014. PMID: 24378947 Free PMC article. Review.
However, some studies on the effect of combination antiretroviral therapy on small for gestational age and low birth weight outcomes in low-middle income countries show a risk for small for gestational age/low birth weight while those in the United States do not. Postnatal …
However, some studies on the effect of combination antiretroviral therapy on small for gestational age and low birth weight outcomes …
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 …
Clinical application of readout-segmented- echo-planar imaging for diffusion-weighted imaging in pediatric brain.
Holdsworth SJ, Yeom K, Skare S, Gentles AJ, Barnes PD, Bammer R. Holdsworth SJ, et al. AJNR Am J Neuroradiol. 2011 Aug;32(7):1274-9. doi: 10.3174/ajnr.A2481. Epub 2011 May 19. AJNR Am J Neuroradiol. 2011. PMID: 21596809 Free PMC article. Clinical Trial.
RESULTS: The following were the average scores for EPI and RS-EPI, respectively: resolution, 3.5/5.2; distortion level, 2.9/6.0; SNR, 3.4/4.1; lesion conspicuity, 3.3/5.9; and diagnostic confidence, 3.2/6.0. ...CONCLUSIONS: This work shows the importance of both resolution …
RESULTS: The following were the average scores for EPI and RS-EPI, respectively: resolution, 3.5/5.2; distortion level, 2.9/6.0; SNR, …
Cognitive characteristics of mitochondrial diseases in children.
Shurtleff H, Barry D, Chanprasert S, Firman T, Warner M, Saneto RP. Shurtleff H, et al. Epilepsy Behav. 2018 Nov;88:235-243. doi: 10.1016/j.yebeh.2018.09.013. Epub 2018 Oct 11. Epilepsy Behav. 2018. PMID: 30316150
RESULTS: Distribution of ages for patients with the Vineland assessment was younger than those given the Wechsler. The median overall score (combining Wechsler and Vineland summary scores) for all patients was 85 (interquartile range [IQR]: 50, 102), with the …
RESULTS: Distribution of ages for patients with the Vineland assessment was younger than those given the Wechsler. The median overall sco …
31 results