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Quoted phrase not found in phrase index: "Combined oxidative phosphorylation deficiency 53"
Page 1
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE, Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts LJ, Fogel BL, Brüggemann N, Lohmann K, Delatycki MB, Bahlo M, Lockhart PJ. Rafehi H, et al. Am J Hum Genet. 2023 Jan 5;110(1):105-119. doi: 10.1016/j.ajhg.2022.11.015. Epub 2022 Dec 8. Am J Hum Genet. 2023. PMID: 36493768 Free PMC article.
In a German validation cohort, 9/104 (8.7%) of affected individuals had (GAA)(>335) and a further six had (GAA)(>250), whereas 10/190 (5.3%) control subjects had (GAA)(>250) but none were (GAA)(>335). The combined data suggest (GAA)(>335) are disease causing …
In a German validation cohort, 9/104 (8.7%) of affected individuals had (GAA)(>335) and a further six had (GAA)(>250), whereas 10/190 …
Strength training and aerobic exercise training for muscle disease.
Voet NB, van der Kooi EL, van Engelen BG, Geurts AC. Voet NB, et al. Cochrane Database Syst Rev. 2019 Dec 6;12(12):CD003907. doi: 10.1002/14651858.CD003907.pub5. Cochrane Database Syst Rev. 2019. PMID: 31808555 Free PMC article.
MAIN RESULTS: We included 14 trials of aerobic exercise, strength training, or both, with an exercise duration of eight to 52 weeks, which included 428 participants with facioscapulohumeral muscular dystrophy (FSHD), dermatomyositis, polymyositis, mitochondrial myopathy, D …
MAIN RESULTS: We included 14 trials of aerobic exercise, strength training, or both, with an exercise duration of eight to 52 weeks, which i …
Clinicopathologic Profiles of Sporadic Late-Onset Nemaline Myopathy: Practical Importance of Anti-α-Actinin Immunostaining.
Zhao B, Dai T, Zhao D, Ma X, Zhao C, Li L, Sun Y, Zhang Y, Yan Y, Lu JQ, Liu F, Yan C. Zhao B, et al. Neurol Neuroimmunol Neuroinflamm. 2022 May 17;9(4):e1184. doi: 10.1212/NXI.0000000000001184. Print 2022 Jul. Neurol Neuroimmunol Neuroinflamm. 2022. PMID: 35581006 Free PMC article.
In comparison, we also performed muscle IHC in patients with selective type II fiber atrophy (n = 22), neurogenic atrophy (n = 22), mitochondrial myopathy (n = 5), immune-mediated necrotizing myopathy (n = 5), and normal controls (n = 5). ...Moderate improvement following …
In comparison, we also performed muscle IHC in patients with selective type II fiber atrophy (n = 22), neurogenic atrophy (n = 22), mitoc …
Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease.
Herman I, Lopez MA, Marafi D, Pehlivan D, Calame DG, Abid F, Lotze TE. Herman I, et al. Muscle Nerve. 2021 Mar;63(3):304-310. doi: 10.1002/mus.27112. Epub 2020 Nov 13. Muscle Nerve. 2021. PMID: 33146414
METHODS: A retrospective cohort study of 106 pediatric NMD patients with a combination of ES, chromosomal microarray (CMA), and candidate gene testing was completed at a large tertiary referral center. ...In 2/79 (3%) patients, a dual molecular diagnosis explaining the neu …
METHODS: A retrospective cohort study of 106 pediatric NMD patients with a combination of ES, chromosomal microarray (CMA), and candi …
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.
Sommerville EW, Ng YS, Alston CL, Dallabona C, Gilberti M, He L, Knowles C, Chin SL, Schaefer AM, Falkous G, Murdoch D, Longman C, de Visser M, Bindoff LA, Rawles JM, Dean JCS, Petty RK, Farrugia ME, Haack TB, Prokisch H, McFarland R, Turnbull DM, Donnini C, Taylor RW, Gorman GS. Sommerville EW, et al. JAMA Neurol. 2017 Jun 1;74(6):686-694. doi: 10.1001/jamaneurol.2016.4357. JAMA Neurol. 2017. PMID: 28395030 Free PMC article.
However, the identification of new patients expands the clinical and molecular spectrum of mitochondrial disorders. OBJECTIVES: To review the clinical, molecular, and genetic features of YARS2-related mitochondrial disease and to demonstrate a new Scottish founder v …
However, the identification of new patients expands the clinical and molecular spectrum of mitochondrial disorders. OBJECTIVES: To re …
A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design.
Saccà F, Puorro G, Antenora A, Marsili A, Denaro A, Piro R, Sorrentino P, Pane C, Tessa A, Brescia Morra V, Cocozza S, De Michele G, Santorelli FM, Filla A. Saccà F, et al. PLoS One. 2011 Mar 11;6(3):e17627. doi: 10.1371/journal.pone.0017627. PLoS One. 2011. PMID: 21412413 Free PMC article.
Messenger RNA expression was reduced to 19.4% in cFA, 50.4% in LOFA, 52.7% in pFA, 53.0% in carriers, as compared to controls (p<0.0001). mRNA levels proved to be diagnostic when comparing cFA with controls resulting in 100% sensitivity and specificity. ...CONCLUSION/SI …
Messenger RNA expression was reduced to 19.4% in cFA, 50.4% in LOFA, 52.7% in pFA, 53.0% in carriers, as compared to controls (p<0 …
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.
Honzik T, Tesarova M, Magner M, Mayr J, Jesina P, Vesela K, Wenchich L, Szentivanyi K, Hansikova H, Sperl W, Zeman J. Honzik T, et al. J Inherit Metab Dis. 2012 Sep;35(5):749-59. doi: 10.1007/s10545-011-9440-3. Epub 2012 Jan 10. J Inherit Metab Dis. 2012. PMID: 22231385
In this study, clinical and laboratory data were analyzed in 129 patients with neonatal onset of MD to identify any association between specific mitochondrial diseases and their symptoms with the aim of optimizing diagnosis. ...Hyperammonemia was observed in 22 out …
In this study, clinical and laboratory data were analyzed in 129 patients with neonatal onset of MD to identify any association between spec …
Self-management program improves participation in patients with neuromuscular disease: A randomized controlled trial.
Veenhuizen Y, Cup EHC, Jonker MA, Voet NBM, van Keulen BJ, Maas DM, Heeren A, Groothuis JT, van Engelen BGM, Geurts ACH. Veenhuizen Y, et al. Neurology. 2019 Oct 29;93(18):e1720-e1731. doi: 10.1212/WNL.0000000000008393. Epub 2019 Sep 30. Neurology. 2019. PMID: 31570565 Clinical Trial.
OBJECTIVE: To investigate the effectiveness of Energetic, a self-management group program combining aerobic training, energy conservation management, and relapse prevention to improve social participation in patients with neuromuscular disease (NMD) and chronic fatigue. .. …
OBJECTIVE: To investigate the effectiveness of Energetic, a self-management group program combining aerobic training, energy conserva …
Oxygen consumption in platelets as an adjunct diagnostic method for pediatric mitochondrial disease.
Westerlund E, Marelsson SE, Ehinger JK, Sjövall F, Morota S, Åsander Frostner E, Oldfors A, Darin N, Lundgren J, Hansson MJ, Fellman V, Elmér E. Westerlund E, et al. Pediatr Res. 2018 Feb;83(2):455-465. doi: 10.1038/pr.2017.250. Epub 2017 Nov 15. Pediatr Res. 2018. PMID: 28981487
BackgroundDiagnosing mitochondrial disease (MD) is a challenge. In addition to genetic analyses, clinical practice is to perform invasive procedures such as muscle biopsy for biochemical and histochemical analyses. ...A respiratory analysis model based on ratios (independe …
BackgroundDiagnosing mitochondrial disease (MD) is a challenge. In addition to genetic analyses, clinical practice is to perform inva …
Mitochondrial DNA Copy Number Variations and Serum Pepsinogen Levels for Risk Assessment in Gastric Cancer.
Alikhani M, Saberi S, Esmaeili M, Michel V, Tashakoripour M, Abdirad A, Aghakhani A, Eybpoosh S, Vosough M, Mohagheghi MA, Eshagh Hosseini M, Touati E, Mohammadi M. Alikhani M, et al. Iran Biomed J. 2021 Sep 1;25(5):323-33. doi: 10.52547/ibj.25.5.323. Epub 2021 Aug 22. Iran Biomed J. 2021. PMID: 34425651 Free PMC article.
Herein, we have assessed its efficiency in GC screening, in parallel and in combination with serum pepsinogen (sPG) I/II ratio, as an established indicator of gastric atrophy. METHODS: The study population included GC (n = 53) and non-GC (n = 207) dyspeptic patients …
Herein, we have assessed its efficiency in GC screening, in parallel and in combination with serum pepsinogen (sPG) I/II ratio, as an …
18 results