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ArticlesPeer ReviewedFull Text
The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions
Author / Creator:Anteneová, Nicole ; Kelifová, Silvie ; Kolářová, Hana ; Vondráčková, Alžběta ; Tóthová, Iveta ; Lišková, Petra ; Magner, Martin ; Zámečník, Josef ; Hansíková, Hana ; Zeman, Jiří ; Tesařová, Markéta ; Honzík, Tomáš
Publisher:MDPI AG
Journal title:Brain sciences, 2020-11, Vol.10 (11), p.1
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ArticlesPeer ReviewedFull Text
Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?
Author / Creator:Dudakova, Lubica ; Skalicka, Pavlina ; Davidson, Alice E ; Sadan, Amanda N ; Chylova, Monika ; Jahnova, Helena ; Anteneova, Nicole ; Tesarova, Marketa ; Honzik, Tomas ; Liskova, Petra
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2021-11, Vol.12 (12), p.1918
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ArticlesPeer ReviewedFull Text
Kearns‐Sayre syndrome case. Novel 5,9 kb mtDNA deletion
Author / Creator:Grigalionienė, Kristina ; Burnytė, Birutė ; Balkelienė, Danutė ; Ambrozaitytė, Laima ; Utkus, Algirdas
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2023-01, Vol.11 (1), p.e2059-n/a
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ArticlesPeer ReviewedFull Text
Kearns-Sayre syndrome: expanding spectrum of a “novel” mitochondrial leukomyeloencephalopathy
Author / Creator:Moscatelli, Marco ; Ardissone, Anna ; Lamantea, Eleonora ; Zorzi, Giovanna ; Bruno, Claudio ; Moroni, Isabella ; Erbetta, Alessandra ; Chiapparini, Luisa
Publisher:Cham: Springer International Publishing
Journal title:Neurological sciences, 2022-03, Vol.43 (3), p.2081-2084
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ArticlesPeer ReviewedFull Text
Kearns-Sayre syndrome with a novel large-scale deletion: a case report
Author / Creator:Zhu, Qin ; Chen, Chunwen ; Yao, Jingyan
Publisher:England: BioMed Central Ltd
Journal title:BMC ophthalmology, 2022-01, Vol.22 (1), p.35-35, Article 35
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ArticlesPeer ReviewedFull Text
A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome: a late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treatment
Author / Creator:Obara-Moszynska, Monika ; Maceluch, Jaroslaw ; Bobkowski, Waldemar ; Baszko, Artur ; Jaremba, Oskar ; Krawczynski, Maciej R ; Niedziela, Marek
Publisher:England: BioMed Central Ltd
Journal title:BMC pediatrics, 2013-02, Vol.13 (1), p.27-27, Article 27
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ArticlesPeer ReviewedFull Text
Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children
Author / Creator:Baban, Anwar ; Lodato, Valentina ; Parlapiano, Giovanni ; di Mambro, Corrado ; Adorisio, Rachele ; Bertini, Enrico Silvio ; Dionisi-Vici, Carlo ; Drago, Fabrizio ; Martinelli, Diego
Publisher:Switzerland: MDPI AG
Journal title:Biomolecules (Basel, Switzerland), 2021-10, Vol.11 (11), p.1578
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ArticlesPeer ReviewedFull Text
Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes
Author / Creator:Sadikovic, Bekim ; Wang, Jing ; El-Hattab, Ayman W ; Landsverk, Megan ; Douglas, Ganka ; Brundage, Ellen K ; Craigen, William J ; Schmitt, Eric S ; Wong, Lee-Jun C
Publisher:United States: Public Library of Science
Journal title:PloS one, 2010-12, Vol.5 (12), p.e15687
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ArticlesPeer ReviewedFull Text
Redefining phenotypes associated with mitochondrial DNA single deletion
Author / Creator:Mancuso, Michelangelo ; Orsucci, Daniele ; Angelini, Corrado ; Bertini, Enrico ; Carelli, Valerio ; Comi, Giacomo Pietro ; Donati, Maria Alice ; Federico, Antonio ; Minetti, Carlo ; Moggio, Maurizio ; Mongini, Tiziana ; Santorelli, Filippo Maria ; Servidei, Serenella ; Tonin, Paola ; Toscano, Antonio ; Bruno, Claudio ; Bello, Luca ; Caldarazzo Ienco, Elena ; Cardaioli, Elena ; Catteruccia, Michela ; Da Pozzo, Paola ; Filosto, Massimiliano ; Lamperti, Costanza ; Moroni, Isabella ; Musumeci, Olimpia ; Pegoraro, Elena ; Ronchi, Dario ; Sauchelli, Donato ; Scarpelli, Mauro ; Sciacco, Monica ; Valentino, Maria Lucia ; Vercelli, Liliana ; Zeviani, Massimo ; Siciliano, Gabriele
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2015-05, Vol.262 (5), p.1301-1309
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ArticlesPeer ReviewedFull Text
Low Prevalence of Cardiomyopathy in Patients with Mitochondrial Disease and Neurological Manifestations
Author / Creator:Nikhanj, Anish ; Bautista, Jesi ; Siddiqi, Zaeem A. ; Phan, Cecile L. ; Oudit, Gavin Y.
Publisher:Basel: MDPI AG
Journal title:Journal of cardiovascular development and disease, 2022-07, Vol.9 (7), p.221
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ArticlesPeer ReviewedFull Text
Síndromes de Pearson y de Kearns-Sayre: dos enfermedades mitocondriales multisistémicas, debidas a deleciones en el ADN mitocondrial/Pearson and Kearns-Sayre syndromes: two multisystem mitochondrial d...
Author / Creator:Hernández, E Martín ; Silva, M T García ; Fraile, P Quijada ; de Aragón, A Martínez ; Cabello, A ; Martín, M Á
Publisher:Madrid: Ediciones Mayo
Journal title:Acta pediátrica española, 2010-10, Vol.68 (9), p.451
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The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions

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Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?

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Kearns‐Sayre syndrome case. Novel 5,9 kb mtDNA deletion

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Kearns-Sayre syndrome: expanding spectrum of a “novel” mitochondrial leukomyeloencephalopathy

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Kearns-Sayre syndrome with a novel large-scale deletion: a case report

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A novel mitochondrial DNA deletion in a patient with Kearns-Sayre syndrome: a late-onset of the fatal cardiac conduction deficit and cardiomyopathy accompanying long-term rGH treatment

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Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children

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Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes

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Redefining phenotypes associated with mitochondrial DNA single deletion

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Low Prevalence of Cardiomyopathy in Patients with Mitochondrial Disease and Neurological Manifestations

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Síndromes de Pearson y de Kearns-Sayre: dos enfermedades mitocondriales multisistémicas, debidas a deleciones en el ADN mitocondrial/Pearson and Kearns-Sayre syndromes: two multisystem mitochondrial d...

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