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451 results

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MELAS: Phenotype Classification into Classic-versus-Atypical Presentations.
Alves CAPF, Zandifar A, Peterson JT, Tara SZ, Ganetzky R, Viaene AN, Andronikou S, Falk MJ, Vossough A, Goldstein AC. Alves CAPF, et al. AJNR Am J Neuroradiol. 2023 May;44(5):602-610. doi: 10.3174/ajnr.A7837. Epub 2023 Apr 6. AJNR Am J Neuroradiol. 2023. PMID: 37024306 Review.
Ultimately, 2-step differentiating criteria were defined to classify atypical MELAS. CONCLUSIONS: We identified 2 distinct patterns of MELAS: classic MELAS and atypical MELAS. Recognizing different patterns in MELAS presentations will enable cli …
Ultimately, 2-step differentiating criteria were defined to classify atypical MELAS. CONCLUSIONS: We identified 2 distinct patterns o …
Emerging therapies for mitochondrial diseases.
Hirano M, Emmanuele V, Quinzii CM. Hirano M, et al. Essays Biochem. 2018 Jul 20;62(3):467-481. doi: 10.1042/EBC20170114. Print 2018 Jul 20. Essays Biochem. 2018. PMID: 29980632 Free PMC article. Review.
Modeling of mitochondrial bioenergetics and autophagy impairment in MELAS-mutant iPSC-derived retinal pigment epithelial cells.
Bhattacharya S, Yin J, Huo W, Chaum E. Bhattacharya S, et al. Stem Cell Res Ther. 2022 Jun 17;13(1):260. doi: 10.1186/s13287-022-02937-6. Stem Cell Res Ther. 2022. PMID: 35715869 Free PMC article.
Mitochondrial depletion of ARPE-19 cells (p(0) cells) was also performed using 50 ng/mL ethidium bromide (EtBr) and 50 mg/ml uridine. ...In addition, impaired autophagy was associated with aberrant lysosomal function, and failure of mitochondrial recycling. The mitochondri …
Mitochondrial depletion of ARPE-19 cells (p(0) cells) was also performed using 50 ng/mL ethidium bromide (EtBr) and 50 mg/ml uridine. …
The clinical spectrum of MELAS and associated disorders across ages: a retrospective cohort study.
Cox BC, Pearson JY, Mandrekar J, Gavrilova RH. Cox BC, et al. Front Neurol. 2023 Dec 14;14:1298569. doi: 10.3389/fneur.2023.1298569. eCollection 2023. Front Neurol. 2023. PMID: 38156086 Free PMC article.
MELAS patients had lower BMI at onset (mean 18.6 vs. 25.1 asymptomatic and 22.0 symptomatic non-MELAS, p < 0.05). There was a trend toward higher serum heteroplasmy in MELAS compared to symptomatic non-MELAS and asymptomatic (means 39.3, 29.3
MELAS patients had lower BMI at onset (mean 18.6 vs. 25.1 asymptomatic and 22.0 symptomatic non-MELAS, p < 0.05). Th
Discovery of common and rare genetic risk variants for colorectal cancer.
Huyghe JR, Bien SA, Harrison TA, Kang HM, Chen S, Schmit SL, Conti DV, Qu C, Jeon J, Edlund CK, Greenside P, Wainberg M, Schumacher FR, Smith JD, Levine DM, Nelson SC, Sinnott-Armstrong NA, Albanes D, Alonso MH, Anderson K, Arnau-Collell C, Arndt V, Bamia C, Banbury BL, Baron JA, Berndt SI, Bézieau S, Bishop DT, Boehm J, Boeing H, Brenner H, Brezina S, Buch S, Buchanan DD, Burnett-Hartman A, Butterbach K, Caan BJ, Campbell PT, Carlson CS, Castellví-Bel S, Chan AT, Chang-Claude J, Chanock SJ, Chirlaque MD, Cho SH, Connolly CM, Cross AJ, Cuk K, Curtis KR, de la Chapelle A, Doheny KF, Duggan D, Easton DF, Elias SG, Elliott F, English DR, Feskens EJM, Figueiredo JC, Fischer R, FitzGerald LM, Forman D, Gala M, Gallinger S, Gauderman WJ, Giles GG, Gillanders E, Gong J, Goodman PJ, Grady WM, Grove JS, Gsur A, Gunter MJ, Haile RW, Hampe J, Hampel H, Harlid S, Hayes RB, Hofer P, Hoffmeister M, Hopper JL, Hsu WL, Huang WY, Hudson TJ, Hunter DJ, Ibañez-Sanz G, Idos GE, Ingersoll R, Jackson RD, Jacobs EJ, Jenkins MA, Joshi AD, Joshu CE, Keku TO, Key TJ, Kim HR, Kobayashi E, Kolonel LN, Kooperberg C, Kühn T, Küry S, Kweon SS, Larsson SC, Laurie CA, Le Marchand L, Leal SM, Lee SC, Lejbkowicz F,… See abstract for full author list ➔ Huyghe JR, et al. Nat Genet. 2019 Jan;51(1):76-87. doi: 10.1038/s41588-018-0286-6. Epub 2018 Dec 3. Nat Genet. 2019. PMID: 30510241 Free PMC article.
In a combined meta-analysis of 125,478 individuals, we identified 40 new independent signals at P < 5 10(-8), bringing the number of known independent signals for CRC to ~100. ...

In a combined meta-analysis of 125,478 individuals, we identified 40 new independent signals at P < 5 10(-8), bringing the number

Visual memory failure presages conversion to MELAS phenotype.
Leaffer EB, De Vivo DC, Engelstad K, Fryer RH, Gu Y, Shungu DC, Hirano M, DiMauro S, Hinton VJ. Leaffer EB, et al. Ann Clin Transl Neurol. 2022 Jun;9(6):841-852. doi: 10.1002/acn3.51564. Epub 2022 May 6. Ann Clin Transl Neurol. 2022. PMID: 35522125 Free PMC article.
ANOVA, chi-squared/Fisher's exact tests, paired t-tests, Pearson correlations, and Spearman correlations were used. RESULTS: When compared to carriers and controls, MELAS patients had the: (1) most impaired memory functions (Visual: p = 0.0003; Verbal: p = 0. …
ANOVA, chi-squared/Fisher's exact tests, paired t-tests, Pearson correlations, and Spearman correlations were used. RESULTS: When compared t …
Diagnosis and management of MELAS.
Thambisetty M, Newman NJ. Thambisetty M, et al. Expert Rev Mol Diagn. 2004 Sep;4(5):631-44. doi: 10.1586/14737159.4.5.631. Expert Rev Mol Diagn. 2004. PMID: 15347257 Review.
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is the most common maternally inherited mitochondrial disease. ...Genetic counseling is an important component of patient management in MELAS. Newer reproductive technologies ho …
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is the most common maternally inherited mito …
The "S" in MELAS.
Silbert L, Durocher A, Biller J. Silbert L, et al. J Stroke Cerebrovasc Dis. 1996 Nov-Dec;6(2):67-71. doi: 10.1016/s1052-3057(96)80005-x. J Stroke Cerebrovasc Dis. 1996. PMID: 17894971
MELAS syndrome is one of several mitochondrial-inherited encephalomyopathies distinguished from the others by its unique stroke-like episodes. ...Finally, various theories regarding the etiology of stroke in MELAS syndrome as well as available treatmen
MELAS syndrome is one of several mitochondrial-inherited encephalomyopathies distinguished from the others by its unique strok
Clinical score for early diagnosis and treatment of stroke-like episodes in MELAS syndrome.
Naftali J, Mermelstein M, Landau YE, Barnea R, Shelly S, Auriel E, Peretz S. Naftali J, et al. Acta Neurol Belg. 2023 Jun;123(3):1019-1028. doi: 10.1007/s13760-023-02196-z. Epub 2023 Feb 15. Acta Neurol Belg. 2023. PMID: 36792807
BACKGROUND AND OBJECTIVES: Stroke-like episodes (SLEs) in patients with MELAS syndrome are often initially misdiagnosed as acute ischemic stroke (AIS), resulting in treatment delay. ...Compared to late or no treatment, early treatment group patients (n = 5) had less …
BACKGROUND AND OBJECTIVES: Stroke-like episodes (SLEs) in patients with MELAS syndrome are often initially misdiagnosed as acu …
451 results