Results 101 to 110 of about 2,165 (170)

Kearns-Sayre syndrome with restricted diffusion in subcortical white matter and extraocular muscle atrophy. [PDF]

Radiol Case Rep
Matsukawa M, Maeda M, Tanaka F, Kogue R, Umino M, Nishigaki A, Sakuma H.   +6 more
europepmc   +1 more source

Cardiac manifestations in adult patients with inherited metabolic disease: A single-center experience. [PDF]

Mol Genet Metab Rep
Sadiku F, Rutz T, Superti-Furga A, Monney P, Tran C.   +4 more
europepmc   +1 more source

Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey. [PDF]

Neurology
Ivaniuk A, Anselm IA, Bowen A, Cohen BH, Eminoglu FT, Estrella J, Gallagher RC, Ganetzky RD, Gannon J, Gorman GS, Greene C, Gropman AL, Haas RH, Hirano M, Kapoor S, Karaa A, Koenig MK, Kornblum C, Kose E, Larson A, Lichter-Konecki U, Lopriore P, Mancuso M, McFarland R, Moe AM, Morava E, Ng YS, Saneto RP, Scaglia F, Sue CM, Tarnopolsky M, Walker MA, Parikh S, as the Hong Kong Mitochondrial Diseases Interest Group, Cheuk-Wing F, Wong TS, Belaramani K, Chan CK, Chan WK, Chan WL, Cheung HW, Cheung KY, Chang SK, Cheung SN, Cheung TF, Cheung YF, Chong SJ, Chow CJ, Chung HB, Fan SF, Fok WJ, Fong KW, Fung TS, Hui KF, Hui TH, Hui J, Ko CH, Kwan MC, Kwok MA, Kwok SJ, Lai MS, Lam YO, Lam CW, Lau MC, Law CE, Law HF, Lee WC, Hencher Lee HC, Leung KH, Leung KY, Li SH, Ling TJ, Liu KT, Lo FM, Lui C, Luk CO, Luk HM, Ma CK, Ma K, Ma KH, Mew YN, Mo A, Hg SF, Poon WG, Sheng B, Szeto CC, Tai SM, Tang JL, Tse CA, Tsung LL, Wong HJ, Wong WW, Wong KK, Wong SS, Wong CV, Wong WS, Wong CF, Wu SP, Wu HJ, Yau MM, Yau KE, Yeung WL, Yeung HJ, Yip KE, Wu HJ, Young PT, Yuan G, Yuen YL, Yuen CL.   +108 more
europepmc   +1 more source

Ellipsoid Zone Reflectivity: Exploring its Potential as a Novel Non-Invasive Biomarker for Assessing Mitochondrial Function. [PDF]

Neuroophthalmology
Kleerekooper I, Verschueren DV, Trip SA, Plant GT, Petzold A.   +4 more
europepmc   +1 more source

Quantifying variability of mitochondrial markers in m3243A > G myopathy. [PDF]

Sci Rep
Bernardino Gomes TM, Childs JB, Di Leo V, Warren C, Hudson G, Turnbull DM, Lawless C, Vincent AE.   +7 more
europepmc   +1 more source

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases. [PDF]

HGG Adv
Stenton SL, Laricchia K, Lake NJ, Chaluvadi S, Ganesh V, DiTroia S, Osei-Owusu I, Pais L, O'Heir E, Austin-Tse C, O'Leary M, Abu Shanap M, Barrows C, Berger S, Bönnemann CG, Bujakowska KM, Campagna DR, Compton AG, Donkervoort S, Fleming MD, Gallacher L, Gleeson JG, Haliloglu G, Pierce EA, Place EM, Sankaran VG, Shimamura A, Stark Z, Tan TY, Thorburn DR, White SM, Zaki MS, Genomics Research to Elucidate the Genetics of Rare diseases (GREGoR) Consortium, Vilain E, Lek M, Rehm HL, O'Donnell-Luria A.   +36 more
europepmc   +1 more source

Crucial Role of Early Detection in Managing Heart Failure in Kearns-Sayre Syndrome: A Case Report. [PDF]

Am J Case Rep
Krupka D, Rakoczy K, Chełmoński A, Zakliczyński M, Przybylski R, Sokolski M.   +5 more
europepmc   +1 more source

Diagnostic accuracy of the lactate stress test for detecting mitochondrial disorders: Systematic review and meta-analysis. [PDF]

Heliyon
El Guessabi S, Abouqal R, Ibrahimi A, Zouiri G, Sfifou F, Finsterer J, Kriouile Y.   +6 more
europepmc   +1 more source

Molecular Aspects of Mitochondrial Dysfunction in Diabetes, Pearson and Kearns-Sayre Syndromes, and Neurodegenerative Disorders. [PDF]

Int J Gen Med
Shafiee A, Akhlaghi AA, Ellstrom A, Mohammadi SO, Shafiee A, Sathyamoorthy M.   +5 more
europepmc   +1 more source

Ophthalmological signs and sensorimotor evaluation in mitochondrial chronic progressive external ophthalmoplegia: a multidisciplinary prospective study. [PDF]

BMC Ophthalmol
Savino G, Giannuzzi F, Cima V, Brando D, Fossataro C, Servidei S, Savastano MC, Primiano G.   +7 more
europepmc   +1 more source