Works matching DE "MERRF syndrome"

Results: 18

Classical MERRF phenotype associated with mitochondrial tRNA (m.3243A>G) mutation.

Published in:

European Journal of Pediatrics, 2012, v. 171, n. 5, p. 859, doi. 10.1007/s00431-011-1662-8

By:

Brackmann, Florian;
Abicht, Angela;
Ahting, Uwe;
Schröder, Rolf;
Trollmann, Regina

Publication type:

Article

Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy.

Published in:

Genes, 2018, v. 9, n. 9, p. 455, doi. 10.3390/genes9090455

By:

Matos, Liliana;
Duarte, Ana Joana;
Ribeiro, Diogo;
Amaral, Olga;
Alves, Sandra;
Chaves, João

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

Severe Recurrence of Seizures Following Pandemic-Related Delay of Stimulator Servicing.

Published in:

2022

By:

Schulze-Bonhage, Andreas;
Hirsch, Martin;
Coenen, Volker Arnd

Publication type:

Case Study

Genetic system for maintaining the mitochondrial human genome in yeast Yarrowia lipolytica.

Published in:

Applied Biochemistry & Microbiology, 2016, v. 52, n. 6, p. 663, doi. 10.1134/S0003683816060065

By:

Isakova, E.;
Deryabina, Yu.;
Belyakova, A.;
Biryukova, J.;
Teplova, V.;
Shevelev, A.

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

Myoclonic epilepsy with ragged-red fibers: A case report.

Published in:

Experimental & Therapeutic Medicine, 2015, v. 9, n. 2, p. 432, doi. 10.3892/etm.2014.2140

By:

XUE-FAN YU;
JING MIAO;
YAN LI;
XIN-MEI JIANG;
YU-GANG MA;
HONG-MEI MENG

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

Peripheral neuropathy is a common manifestation of mitochondrial diseases: a single-centre experience.

Published in:

European Journal of Neurology, 2016, v. 23, n. 6, p. 1020, doi. 10.1111/ene.12954

By:

Luigetti, M.;
Sauchelli, D.;
Primiano, G.;
Cuccagna, C.;
Bernardo, D.;
Lo Monaco, M.;
Servidei, S.

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

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

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

Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.

Published in:

Epilepsia (Series 4), 2017, v. 58, n. 3, p. 436, doi. 10.1111/epi.13676

By:

Mulkey, Sarah B.;
Ben‐Zeev, Bruria;
Nicolai, Joost;
Carroll, John L.;
Grønborg, Sabine;
Jiang, Yong‐hui;
Joshi, Nishtha;
Kelly, Megan;
Koolen, David. A.;
Mikati, Mohamad A.;
Park, Kristen;
Pearl, Phillip L.;
Scheffer, Ingrid E.;
Spillmann, Rebecca C.;
Taglialatela, Maurizio;
Vieker, Silvia;
Weckhuysen, Sarah;
Cooper, Edward C.;
Cilio, Maria Roberta

Publication type:

Article

Phenotypic spectrum of the m.8344A>G mutation.

Published in:

2016

By:

Finsterer, Josef;
Zarrouk-Mahjoub, Sinda

Publication type:

Letter

Expanded phenotypic spectrum of the m.8344A>G 'MERRF' mutation: data from the German mitoNET registry.

Published in:

Journal of Neurology, 2016, v. 263, n. 5, p. 961, doi. 10.1007/s00415-016-8086-3

By:

Altmann, Judith;
Büchner, Boriana;
Nadaj-Pakleza, Aleksandra;
Schäfer, Jochen;
Jackson, Sandra;
Lehmann, Diana;
Deschauer, Marcus;
Kopajtich, Robert;
Lautenschläger, Ronald;
Kuhn, Klaus;
Karle, Kathrin;
Schöls, Ludger;
Schulz, Jörg;
Weis, Joachim;
Prokisch, Holger;
Kornblum, Cornelia;
Claeys, Kristl;
Klopstock, Thomas

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

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

Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype.

Published in:

2018

By:

Kärppä, Mikko;
Kytövuori, Laura;
Saari, Markku;
Majamaa, Kari

Publication type:

journal article