Works matching MERRF syndrome

Results: 79

Autopsied case with MERRF/MELAS overlap syndrome accompanied by stroke‐like episodes localized to the precentral gyrus.

Published in:

Neuropathology, 2019, v. 39, n. 3, p. 212, doi. 10.1111/neup.12551

By:

Miyahara, Hiroaki;
Matsumoto, Shinjiro;
Mokuno, Kenji;
Dei, Rika;
Akagi, Akio;
Mimuro, Maya;
Iwasaki, Yasushi;
Yoshida, Mari

Publication type:

Article

Upregulation of Matrix Metalloproteinase 1 and Disruption of Mitochondrial Network in Skin Fibroblasts of Patients with MERRF Syndrome.

Published in:

Annals of the New York Academy of Sciences, 2005, v. 1042, n. 1, p. 55, doi. 10.1196/annals.1338.006

By:

MA, YI‐SHING;
CHEN, YIN‐CHIU;
LU, CHING‐YOU;
LIU, CHUN‐YI;
WEI, YAU‐HUEI

Publication type:

Article

Pathogenetic aspects of the A8344G mutation of mitochondrial DNA associated with MERRF syndrome and multiple symmetric lipomas.

Published in:

Muscle & Nerve, 1995, v. 18, n. S14, p. S102, doi. 10.1002/mus.880181421

By:

Larsson, Nils-Göran;
Tulinius, Mar H.;
Holme, Elisabeth;
Oldfors, Anders

Publication type:

Article

Functional respiratory chain studies in mitochondrial cytopathies. Support for mitochondrial DNA heteroplasmy in myoclonus epilepsy and ragged red fibers (MERRF) syndrome.

Published in:

Acta Neuropathologica, 1991, v. 81, n. 3, p. 318, doi. 10.1007/BF00305874

By:

Byrne, E.;
Trounce, I.;
Marzuki, S.;
Dennett, X.;
Berkovic, S.;
Davis, S.;
Tanaka, M.;
Ozawa, T.

Publication type:

Article

Anesthetic management of a patient with MERRF syndrome.

Published in:

Pediatric Anesthesia, 2005, v. 15, n. 1, p. 77, doi. 10.1111/j.1460-9592.2005.01384.x

By:

VILELA, HUGO;
GARCÌA-FERNÁNDEZ, JAVIER;
PARODI, ELBA;
REINOSO-BARBERO, FRANCISCO;
DURÁN, PILAR;
GILSANZ, FERNANDO

Publication type:

Article

СИНДРОМ MERRF (МИОКЛОНИЧЕСКАЯ ЭПИЛЕПСИЯ С РАЗОРВАННЫМИ КРАСНЫМИ ВОЛОКНАМИ В МЫШЦАХ). ОБЗОР С КЛИНИЧЕСКИМ СЛУЧАЕМ.

Published in:

German International Journal of Modern Science / Deutsche Internationale Zeitschrift für Zeitgenössische Wissenschaft, 2024, n. 75, p. 36, doi. 10.5281/zenodo.10786349

By:

А. Д., Редько;
Г. Ю., Бабаджанова

Publication type:

Article

Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome: Report of a Chinese family with mitochondrial DNA point mutation in tRNALys gene.

Published in:

Muscle & Nerve, 1994, v. 17, n. 1, p. 52, doi. 10.1002/mus.880170107

By:

Fang, Wan;
Huang, Chin-Chang;
Chu, Nai-Shun;
Lee, Cheng-Chun;
Chen, Rou-Shayn;
Pang, Cheng-Yoong;
Shih, Kwang-Dar;
Wei, Yau-Huei

Publication type:

Article

Regionalized Pathology Correlates with Augmentation of mtDNA Copy Numbers in a Patient with Myoclonic Epilepsy with Ragged-Red Fibers (MERRF-Syndrome).

Published in:

PLoS ONE, 2010, v. 5, n. 10, p. 1, doi. 10.1371/journal.pone.0013513

By:

Brinckmann, Anja;
Weiss, Claudia;
Wilbert, Friederike;
von Moers, Arpad;
Zwirner, Angelika;
Stoltenburg-Didinger, Gisela;
Wilichowski, Ekkehard;
Schuelke, Markus

Publication type:

Article

MERRF/MELAS overlap syndrome due to the m.3291T>C mutation.

Published in:

Metabolic Brain Disease, 2014, v. 29, n. 1, p. 139, doi. 10.1007/s11011-013-9464-5

By:

Liu, Kaiming;
Zhao, Hui;
Ji, Kunqian;
Yan, Chuanzhu

Publication type:

Article

High Prevalence of the COII/tRNALys Intergenic 9-bp Deletion in Mitochondrial DNA of Taiwanese Patients with MELAS or MERRF Syndrome.

Published in:

Annals of the New York Academy of Sciences, 2005, v. 1042, n. 1, p. 82, doi. 10.1196/annals.1338.058

By:

LIU, CHIN‐SAN;
CHENG, WEN‐LING;
CHEN, YI‐YUN;
MA, YI‐SHING;
PANG, CHENG‐YOONG;
WEI, YAU‐HUEI

Publication type:

Article

Mitochondrial DNA 3252A>G mutation presenting as MERRF/MELAS overlapping syndrome: A case report.

Published in:

Neurology Asia, 2023, v. 28, n. 4, p. 1073, doi. 10.54029/2023tzs

By:

Yin Yin Tan;
Ting Yoong Tee;
Farn Ye Chew;
Huey Tean Kok;
Abd Rani, Nor Haizura binti;
Lock Hock Ngu;
Viswanathan, Shanthi

Publication type:

Article

Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA.

Published in:

1996

By:

Campos, Yolanda;
Martin, Miguel Angel;
Lorenzo, Gustavo;
Aparicio, Manuel;
Cabello, Ana;
Arenas, Joaquin;
Campos, Y;
Martin, M A;
Lorenzo, G;
Aparicio, M;
Cabello, A;
Arenas, J

Publication type:

journal article

Ekbom's syndrome: Lipomas, ataxia, and neuropathy with MERRF.

Published in:

Muscle & Nerve, 1994, v. 17, n. 8, p. 943, doi. 10.1002/mus.880170815

By:

Calabresi, Peter A.;
Silvestri, Gabriella;
DiMauro, Salvatore;
Griggs, Robert C.

Publication type:

Article

Photosensitive Epilepsy and Polycystic Ovary Syndrome as Manifestations of MERRF.

Published in:

Case Reports in Neurological Medicine, 2020, p. 1, doi. 10.1155/2020/8876272

By:

Finsterer, Josef

Publication type:

Article

PATHOLOGY OF SKELETAL MUSCLE FIBRES AND SMALL BLOOD VESSELS IN MERRF SYNDROME: AN ULTRASTRUCTURAL STUDY.

Published in:

Polish Journal of Pathology: Official Journal of the Polish Society of Pathologists, 2018, v. 69, n. 4, p. 422, doi. 10.5114/pjp.2018.80904

By:

FELCZAK, PAULINA;
STĘPNIAK, IWONA;
KOWALSKI, PAWEŁ;
STĘPIEŃ, TOMASZ;
WIERZBA-BOBROWICZ, TERESA

Publication type:

Article

Antiepileptic treatment and blood lactate level alteration in patients with myoclonic epilepsy with ragged-red fibers (MERRF) syndrome in a Chinese family.

Published in:

Neurology Asia, 2013, v. 18, n. 1, p. 47

By:

Fei Xiao;
Jia Li;
Xiaogang Zhang;
Xuefeng Wang

Publication type:

Article

Tissue distribution of mutant mitochondrial DNA in a patient with MERRF syndrome.

Published in:

1996

By:

Chen, Rou-Shayn;
Huang, Chin-Chang;
Chu, Nai-Shin;
Chu, Chun-Che;
Shih, Kwang-Dar;
Pang, Cheng-Yoong;
Wei, Yau-Huei;
Chen, R S;
Huang, C C;
Chu, N S;
Chu, C C;
Shih, K D;
Pang, C Y;
Wei, Y H

Publication type:

journal article

Characteristic or pathognomonic features in ultrastructural studies of MELAS syndrome, MERRF syndrome and CADASIL.

Published in:

Folia Neuropathologica, 2024, v. 62, n. 4, p. 465

By:

Felczak, Paulina;
Acewicz, Albert;
Stępień, Tomasz;
Tarka, Sylwia;
Wierzba-Bobrowicz, Teresa;
Stępniak, Iwona;
Dziewulska, Dorota;
Buczek, Julia;
Lewandowska, Eliza

Publication type:

Article

Simultaneous A8344G heteroplasmy and mitochondrial DNA copy number quantification in Myoclonus Epilepsy and Ragged-Red Fibers (MERRF) syndrome by a multiplex Molecular Beacon based real-time fluorescence PCR.

Published in:

Nucleic Acids Research, 2001, v. 29, n. 3, p. e13, doi. 10.1093/nar/29.3.e13

By:

Szuhai, Károly;
Ouweland, Jody M. van den;
Dirks, Roeland W.;
Lemaître, Marc;
Truffert, Jean-Christophe;
Janssen, George M.;
Tanke, Hans J.;
Holme, Elisabeth;
Maassen, J. Antonie;
Raap, Anton K.

Publication type:

Article

Pharmacotherapeutic management of epilepsy in MERRF syndrome.

Published in:

Expert Opinion on Pharmacotherapy, 2019, v. 20, n. 10, p. 1289, doi. 10.1080/14656566.2019.1609941

By:

Finsterer, Josef

Publication type:

Article

Impaired ROS Scavenging System in Human Induced Pluripotent Stem Cells Generated from Patients with MERRF Syndrome.

Published in:

Scientific Reports, 2016, p. 23661, doi. 10.1038/srep23661

By:

Chou, Shih-Jie;
Tseng, Wei-Lien;
Chen, Chien-Tsun;
Lai, Yu-Fen;
Chien, Chian-Shiu;
Chang, Yuh-Lih;
Lee, Hsin-Chen;
Wei, Yau-Huei;
Chiou, Shih-Hwa

Publication type:

Article

Cerebellar ataxia, myoclonus, cervical lipomas, and MERRF syndrome. Case report.

Published in:

Movement Disorders, 2008, v. 23, n. 8, p. 1191, doi. 10.1002/mds.21990

By:

Teive, Hélio A.G.;
Munhoz, Renato P.;
Muzzio, Juliano A.;
Scola, Rosana H.;
Kay, Cláudia K.;
Raskin, Salmo;
Werneck, Lineu C.;
Bruhn, Helene

Publication type:

Article

MERRF/MELAS overlap syndrome associated with 3243 tRNA[supLeu(UUR)] mutation of mitochondrial DNA.

Published in:

Neuropathology, 1998, v. 18, n. 3, p. 321, doi. 10.1111/j.1440-1789.1998.tb00122.x

By:

Onishi, Yoji;
Yamazaki, Motoyoshi;
Shibuya, Hiroyuki;
Tanno, Yoshinori;
Tsuji, Shoji

Publication type:

Article

Nuclear DNA-encoded tRNAs targeted into mitochondria can rescue a mitochondrial DNA mutation associated with the MERRF syndrome in cultured human cells.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 20, p. 2519, doi. 10.1093/hmg/ddh267

By:

Kolesnikova, Olga A.;
Entelis, Nina S.;
Jacquin-Becker, Clarisse;
Goltzene, Francine;
Chrzanowska-Lightowlers, Zofia M.;
Lightowlers, Robert N.;
Martin, Robert P.;
Tarassov, Ivan

Publication type:

Article

Overlapping syndrome of MERRF and MELAS: molecular and neuroradiological studies.

Published in:

Acta Neurologica Scandinavica, 1993, v. 87, n. 6, p. 494, doi. 10.1111/j.1600-0404.1993.tb04143.x

By:

Chen, R.-S.;
Huang, C.-C.;
Lee, C.-C.;
Wai, Y.-Y.;
Hsi, M.-S.;
Pang, C.-Y.;
Wei, Y.-H.

Publication type:

Article

Mitochondrial DNA Mutation-Elicited Oxidative Stress, Oxidative Damage, and Altered Gene Expression in Cultured Cells of Patients with MERRF Syndrome.

Published in:

Molecular Neurobiology, 2010, v. 41, n. 2/3, p. 256, doi. 10.1007/s12035-010-8123-7

By:

Wu, Shi-Bei;
Ma, Yi-Shing;
Wu, Yu-Ting;
Chen, Yin-Chiu;
Wei, Yau-Huei

Publication type:

Article

A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome.

Published in:

Genes, 2022, v. 13, n. 7, p. 1245, doi. 10.3390/genes13071245

By:

Štufková, Hana;
Kolářová, Hana;
Lokvencová, Kateřina;
Honzík, Tomáš;
Zeman, Jiří;
Hansíková, Hana;
Tesařová, Markéta

Publication type:

Article

Neurological finding of Mitochondrial Syndromes (MERRF and MELAS).

Published in:: Iranian Journal of Child Neurology, 2013, v. 7, n. 4, p. 15
Publication type:: Article

MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation.

Published in:

Muscle & Nerve, 2011, v. 44, n. 3, p. 448, doi. 10.1002/mus.22149

By:

Emmanuele, Valentina;
Silvers, David S.;
Sotiriou, Evangelia;
Tanji, Kurenai;
DiMAURO, Salvatore;
Hirano, Michio

Publication type:

Article

Lactose-free diet inducing aseptic pancreatitis and myoclonic jerks in late-onset, putative MERRF syndrome.

Published in:

2016

By:

Finsterer, Josef;
Habitzl, Werner

Publication type:

Letter

Fibrous Dysplasia in a Child With Mitochondrial A8344G Mutation.

Published in:

Journal of Child Neurology, 2008, v. 23, n. 12, p. 1447, doi. 10.1177/0883073808318541

By:

Szu-Ta Chen;
Pi-Chuan Fan;
Wuh-Liang Hwu;
Mei-Hwan Wu

Publication type:

Article

线粒体DNA 8344A＞G突变导致线粒体遗传病的研究进展和防治策略.

Published in:

Journal of International Reproductive Health/Family Planning, 2023, v. 42, n. 6, p. 471, doi. 10.12280/gjszjk.20230358

By:

沈凌超;
王鑫;
纪冬梅

Publication type:

Article

Point mutation on tRNA ser(UCN) gene of mtDNA is associated with respiratory complex i deficiency.

Published in:

2008

By:

Kiseljaković, Emina;
Hasić, Sabaheta;
Jadrić, Radivoj;
Mornjaković, Zakira;
Winterhalter-Jadrić, Mira

Publication type:

Abstract

Mitochondrial impairment and synaptic dysfunction are associated with neurological defects in iPSCs-derived cortical neurons of MERRF patients.

Published in:

Journal of Biomedical Science, 2023, v. 30, n. 1, p. 1, doi. 10.1186/s12929-023-00966-8

By:

Wu, Yu-Ting;
Tay, Hui-Yi;
Yang, Jung-Tse;
Liao, Hsiao-Hui;
Ma, Yi-Shing;
Wei, Yau-Huei

Publication type:

Article

Rapid Progression to Brainstem Encephalitis Caused by Enterovirus 71 Without Throat and Skin Lesions After a One-Day Fever.

Published in:

Pediatric Infection & Vaccine, 2023, v. 30, n. 2, p. 91, doi. 10.14776/piv.2023.30.e7

By:

Kyung Min Kim;
Soo Yeon Kim;
Mi Kyoung Song;
Ji Young Kim;
Anna Cho;
Ji Young Park

Publication type:

Article

'Myo-cardiomyopathy' is commonly associated with the A8344G 'MERRF' mutation.

Published in:

Journal of Neurology, 2015, v. 262, n. 3, p. 701, doi. 10.1007/s00415-014-7632-0

By:

Catteruccia, Michela;
Sauchelli, Donato;
Della Marca, Giacomo;
Primiano, Guido;
Cuccagna, Cristina;
Bernardo, Daniela;
Leo, Milena;
Camporeale, Antonella;
Sanna, Tommaso;
Cianfoni, Alessandro;
Servidei, Serenella

Publication type:

Article

The frequency of common mitochondrial DNA mutations in a cohort of Malaysian patients with specific mitochondrial encephalomyopathy syndromes.

Published in:

Neurology Asia, 2011, v. 16, n. 4, p. 321

By:

Chong, Jia-Woei;
Annuar, Azlina Ahmad;
Wong, Kum-Thong;
Thong, Meow-Keong;
Goh, Khean-Jin

Publication type:

Article

Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation.

Published in:

Acta Neurologica Scandinavica, 2007, v. 116, n. 1, p. 1, doi. 10.1111/j.1600-0404.2007.00836.x

By:

Finsterer, J.

Publication type:

Article

Alteration in the copy number of mitochondrial DNA in leukocytes of patients with mitochondrial encephalomyopathies.

Published in:

Acta Neurologica Scandinavica, 2006, v. 113, n. 5, p. 334, doi. 10.1111/j.1600-0404.2006.00586.x

By:

Liu, C.-S.;
Cheng, W.-L.;
Lee, C.-F.;
Ma, Y.-S.;
Lin, C.-Y.;
Huang, C.-C.;
Wei, Y.-H.

Publication type:

Article

Két generációban megfigyelhető mitokondriális DNS A8344G mutáció.

Published in:

Hungarian Medical Journal / Orvosi Hetilap, 2017, v. 158, n. 12, p. 468, doi. 10.1556/650.2017.30634

By:

Fekete, Anett;
Mátyás, Petra;
Till, Ágnes;
Hadzsiev, Kinga;
Bene, Judit;
Melegh, Béla;
Nászai, Antónia

Publication type:

Article

A diagnostic tattoo.

Published in:

Clinical Genetics, 2009, v. 75, n. 1, p. 37, doi. 10.1111/j.1399-0004.2008.01103.x

By:

Whittaker, R. G.;
Turnbull, D. M.

Publication type:

Article

Effects of carbonic anhydrase-related protein VIII on human cells harbouring an A8344G mitochondrial DNA mutation.

Published in:

Biochemical Journal, 2014, v. 459, n. 1, p. 149, doi. 10.1042/BJ20131235

By:

Tze-Kai WANG;
Che-Kun CHENG;
Tang-Hao CHI;
Yi-Shing MA;
Shi-Bei WU;
Yau-Huei WEI;
Mingli HSIEH

Publication type:

Article

DIAGNOSING MERRF REQUIRES CLINICAL AND GENETIC EVIDENCE.

Published in:

Polish Journal of Pathology: Official Journal of the Polish Society of Pathologists, 2020, v. 71, n. 3, p. 283, doi. 10.5114/pjp.2020.99797

By:

FINSTERER, JOSEF

Publication type:

Article

Bilateral Putaminal Necrosis Associated With the Mitochondrial DNA A8344G Myoclonus Epilepsy With Ragged Red Fibers (MERRF) Mutation: An Infantile Case.

Published in:

Journal of Child Neurology, 2006, v. 21, n. 1, p. 79, doi. 10.1177/08830738060210010901

By:

Orces, Simona;
Gorni, Ksenija;
Termine, Cristiano;
Uggetti, Carla;
Veggiotti, Pierangelo;
Carrara, Franco;
Zeviani, Massimo;
Berardinelli, Angela;
Lanzi, Giovanni

Publication type:

Article

Leigh Syndrome as a Phenotype of Near-Homoplasmic m.8344 A>G Variant in Children.

Published in:

Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X21991382

By:

Russo, Sam Nicholas;
Goldstein, Amy;
Karaa, Amel;
Koenig, Mary Kay;
Walker, Melissa

Publication type:

Article

Leigh Syndrome as a Phenotype of Near-Homoplasmic m.8344 A>G Variant in Children.

Published in:

Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X21991382

By:

Russo, Sam Nicholas;
Goldstein, Amy;
Karaa, Amel;
Koenig, Mary Kay;
Walker, Melissa

Publication type:

Article

Mitochondrial DNA disorders.

Published in:

European Journal of Pediatrics, 2000, v. 159, n. 15, p. S219, doi. 10.1007/PL00014407

By:

Naviaux, Robert K.

Publication type:

Article

Mitochondrial DNA disorders.

Published in:

2000

By:

Naviaux, R K

Publication type:

journal article

Heteroplasmic mitochondrial tRNALys mutation and its complementation in MERRF patient-derived mitochondrial transformants.

Published in:

Muscle & Nerve, 1995, v. 18, n. S14, p. S95, doi. 10.1002/mus.880181420

By:

Yoneda, Makoto;
Miyatake, Tadashi;
Attardi, Giuseppe

Publication type:

Article

Progressive myoclonic epilepsy.

Published in:

Neurology India, 2010, v. 58, n. 4, p. 514, doi. 10.4103/0028-3886.68660

By:

Satishchandra, P.;
Sinha, S.

Publication type:

Article