Works matching DE "MITOCHONDRIAL myopathy"

Results: 112

Evidence.based treatment of metabolic myopathy.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2014, v. 14, n. 5, p. 393, doi. 10.3969/j.issn.1672.6731.2014.05.006

By:

LIN Yan;
ZHANG Wen-wu;
LIU Ling

Publication type:

Article

Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review.

Published in:

2015

By:

Sato, Takeshi;
Muroya, Koji;
Hanakawa, Junko;
Iwano, Reiko;
Asakura, Yumi;
Tanaka, Yukichi;
Murayama, Kei;
Ohtake, Akira;
Hasegawa, Tomonobu;
Adachi, Masanori

Publication type:

journal article

Noncompaction in mitochondrial trifunctional protein deficiency due to a HADHB mutation.

Published in:

2015

By:

Finsterer, Josef;
Zarrouk-Majoub, Sinda

Publication type:

commentary

Reply to the correspondence letter by J. Finsterer and S. Zarrouk-Mahjoub "Noncompaction in mitochondrial trifunctional protein deficiency due to a HADHB mutation".

Published in:

2015

By:

Ojala, Tiina

Publication type:

commentary

Zellweger syndrome and secondary mitochondrial myopathy.

Published in:

European Journal of Pediatrics, 2015, v. 174, n. 4, p. 557, doi. 10.1007/s00431-014-2431-2

By:

Salpietro, Vincenzo;
Phadke, Rahul;
Saggar, Anand;
Hargreaves, Iain;
Yates, Robert;
Fokoloros, Christos;
Mankad, Kshitij;
Hertecant, Jozef;
Ruggieri, Martino;
McCormick, David;
Kinali, Maria

Publication type:

Article

Different Effects of High-Fat/High-Sucrose and High-Fructose Diets on Advanced Glycation End-Product Accumulation and on Mitochondrial Involvement in Heart and Skeletal Muscle in Mice.

Published in:

Nutrients, 2023, v. 15, n. 23, p. 4874, doi. 10.3390/nu15234874

By:

Aimaretti, Eleonora;
Chimienti, Guglielmina;
Rubeo, Chiara;
Di Lorenzo, Rosa;
Trisolini, Lucia;
Dal Bello, Federica;
Moradi, Atefeh;
Collino, Massimo;
Lezza, Angela Maria Serena;
Aragno, Manuela;
Pesce, Vito

Publication type:

Article

Prophylactic pacemaker placement at first signs of conduction disease in Kearns-Sayre syndrome.

Published in:

2018

By:

Trivedi, Mira;
Goldstein, Amy;
Arora, Gaurav

Publication type:

journal article

Imaging of Acute Ischemic Stroke.

Published in:

European Neurology, 2014, v. 72, n. 5/6, p. 309, doi. 10.1159/000362719

By:

El-Koussy, Marwan;
Schroth, Gerhard;
Brekenfeld, Caspar;
arnold, Marcel

Publication type:

Article

Promoting Neurological Recovery in the Post-Acute Stroke Phase: Benefits and Challenges.

Published in:

European Neurology, 2014, v. 72, n. 5/6, p. 317, doi. 10.1159/000365171

By:

Hermann, Dirk M.;
Chopp, Michael

Publication type:

Article

Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Published in:

2016

By:

Immonen, Tuuli;
Turanlahti, Maila;
Paganus, Aila;
Keskinen, Päivi;
Tyni, Tiina;
Lapatto, Risto

Publication type:

journal article

MITOCHONDRIAL MYOPATHIES: CURRENT DIAGNOSIS (II).

Published in:

Romanian Journal of Neurology, 2011, v. 10, n. 1, p. 12

By:

Rasanu, Tudor;
Mehedinti, Teofil;
Hancu, Anca;
Damian, Irene;
Mihailov, Claudia;
Rasanu, Ioana

Publication type:

Article

Late-onset thymidine kinase 2 deficiency: a review of 18 cases.

Published in:

2019

By:

Domínguez-González, Cristina;
Hernández-Laín, Aurelio;
Rivas, Eloy;
Hernández-Voth, Ana;
Sayas Catalán, Javier;
Fernández-Torrón, Roberto;
Fuiza-Luces, Carmen;
García García, Jorge;
Morís, Germán;
Olivé, Montse;
Miralles, Frances;
Díaz-Manera, Jordi;
Caballero, Candela;
Méndez-Ferrer, Bosco;
Martí, Ramon;
García Arumi, Elena;
Badosa, María Carmen;
Esteban, Jesús;
Jimenez-Mallebrera, Cecilia;
Encinar, Alberto Blazquez

Publication type:

journal article

Regain of visuospatial capacity after coenzyme Q10 in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes: a case report.

Published in:

Acta Neuropsychiatrica, 2012, v. 24, n. 3, p. 186, doi. 10.1111/j.1601-5215.2011.00620.x

By:

Chu, Che-Sheng;
Chu, Chin-Liang;
Liu, Hong-Ern;
Lu, Ti

Publication type:

Article

Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene.

Published in:

Clinical Case Reports, 2016, v. 4, n. 4, p. 425, doi. 10.1002/ccr3.511

By:

Rij, Maartje C.;
Jansen, Fenna A. R.;
Hellebrekers, Debby M. E. I.;
Onkenhout, W.;
Smeets, Hubert J. M.;
Hendrickx, Alexandra T.;
Gottschalk, Ralph W. H.;
Steggerda, Sylke J.;
Peeters‐Scholte, Cacha M. P. C. D.;
Haak, Monique C.;
Hilhorst‐Hofstee, Yvonne

Publication type:

Article

Hypoparathyroidism as the First Mani-Festation of Kearns-Sayre Syndrome: A Case Report.

Published in:

Iranian Journal of Neonatology, 2014, v. 5, n. 3, p. 2

By:

Farah, Ashrafzadeh;
Nosrat, Ghaemi;
Javad, Akhondian;
Mehran, Beiraghi Toosi;
Saghi, Elmi

Publication type:

Article

Perspectives on Exertional Rhabdomyolysis.

Published in:

Sports Medicine, 2017, v. 47, p. 33, doi. 10.1007/s40279-017-0689-z

By:

Rawson, Eric;
Clarkson, Priscilla;
Tarnopolsky, Mark

Publication type:

Article

MtDNA deletions and aging.

Published in:

Frontiers in Aging Neuroscience, 2024, p. 1, doi. 10.3389/fragi.2024.1359638

By:

Sprason, Charlotte;
Tucker, Trudy;
Clancy, David

Publication type:

Article

Quantitative Measurement of Cerebral Oxygen Extraction Fraction Using MRI in Patients with MELAS.

Published in:

PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0079859

By:

Yu, Lei;
Xie, Sheng;
Xiao, Jiangxi;
Wang, Zhaoxia;
Zhang, Xiaodong

Publication type:

Article

Calreticulin-STAT3 Signaling Pathway Modulates Mitochondrial Function in a Rat Model of Furazolidone-Induced Dilated Cardiomyopathy.

Published in:

PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0066779

By:

Zhang, Ming;
Wei, Jin;
Shan, Hu;
Wang, Hao;
Zhu, Yanhe;
Xue, Jiahong;
Lin, Lin;
Yan, Rui

Publication type:

Article

17-month-old child with Pearson syndrome and corneal haze - case report.

Published in:

2020

By:

Dziedziech, Katarzyna;
Śliwiak, Dominik;
Woś, Małgorzata

Publication type:

Case Study

Biochemical and genetic studies in a family with mitochondrial myopathy.

Published in:

1997

By:

Heiman-Patterson, Terry D.;
Argov, Zohar;
Chavin, Jeffrey M.;
Kalman, Bernadette;
Alder, Hansjuerg;
DiMauro, Salvatore;
Bank, William;
Tahmoush, Albert J.;
Heiman-Patterson, T D;
Argov, Z;
Chavin, J M;
Kalman, B;
Alder, H;
DiMauro, S;
Bank, W;
Tahmoush, A J

Publication type:

journal article

Muscle fatigue, lactate, and pyruvate in mitochondrial myopathy with progressive external ophthalmoplegia.

Published in:

1996

By:

Dengler, Reinhard;
Wohlfarth, Kai;
Zierz, Stephan;
Jöbges, Michael;
Schubert, Margot;
Dengler, R;
Wohlfarth, K;
Zierz, S;
Jobges, M;
Schubert, M

Publication type:

journal article

Prolonged or recurrent acute seizures after pediatric arterial ischemic stroke are associated with increasing epilepsy risk.

Published in:

2017

By:

Fox, Christine K;
Mackay, Mark T;
Dowling, Michael M;
Pergami, Paola;
Titomanlio, Luigi;
Deveber, Gabrielle;
Kirton, Adam;
Abdalla, Abdalla;
Zafeiriou, Dimitrios;
Friedman, Neil;
Tatishvili, Nana;
Kolk, Anneli;
Armstrong‐Wells, Jennifer;
Ichord, Rebecca;
Amlie‐Lefond, Catherine;
Kovacevic, Gordana;
Chavez, Marta Hernandez;
Stojanovski, Belinda;
Guilliams, Kristin;
Elbers, Jorina

Publication type:

journal article

Muscle mitohormesis promotes cellular survival via serine/glycine pathway flux.

Published in:

FASEB Journal, 2015, v. 29, n. 4, p. 1314, doi. 10.1096/fj.14-261503

By:

Ost, Mario;
Keipert, Susanne;
van Schothorst, Evert M.;
Donner, Verena;
van der Stelt, Inge;
Kipp, Anna P.;
Petzke, Klaus-Jürgen;
Jove, Mariona;
Pamplona, Reinald;
Portero-Otin, Manuel;
Keijer, Jaap;
Klaus, Susanne

Publication type:

Article

Noncompaction in Mitochondrial Myopathy: Visible on Microscopy but Absent on Macroscopic Inspection.

Published in:

Cardiology, 2013, v. 125, n. 3, p. 146, doi. 10.1159/000350411

By:

Finsterer, Josef;
Stöllberger, Claudia;
Grassberger, Martin;
Gerger, Daniel

Publication type:

Article

Mitochondrial myopathies diagnosed in adulthood: clinico-genetic spectrum and long-term outcomes.

Published in:

Brain Communications, 2024, v. 6, n. 2, p. 1, doi. 10.1093/braincomms/fcae041

By:

Beecher, Grayson;
Gavrilova, Ralitza H;
Mandrekar, Jay;
Naddaf, Elie

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

Hydroxychloroquine‐induced autophagic vacuolar myopathy with mitochondrial abnormalities.

Published in:

2018

By:

Khosa, Shaweta;
Khanlou, Negar;
Khosa, Gurveer S.;
Mishra, Shri K.

Publication type:

Case Study

Mutations in mitochondrially encoded complex I enzyme as the second common cause in a cohort of Chinese patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 11, p. 759, doi. 10.1038/jhg.2011.96

By:

Zhao, Danhua;
Hong, Daojun;
Zhang, Wei;
Yao, Sheng;
Qi, Xiaokun;
Lv, He;
Zheng, Riliang;
Feng, Liqun;
Huang, Yining;
Yuan, Yun;
Wang, Zhaoxia

Publication type:

Article

Acute mitochondrial myopathy with respiratory insufficiency and motor axonal polyneuropathy.

Published in:

International Journal of Neuroscience, 2018, v. 128, n. 3, p. 231, doi. 10.1080/00207454.2017.1387113

By:

Zhou, Ying;
Yi, Jianhua;
Liu, Li;
Wang, Xiaoping;
Dong, Liang;
Du, Ailian

Publication type:

Article

Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy.

Published in:

2018

By:

Yujiro Higuchi;
Ryuta Okunushi;
Taichi Hara;
Akihiro Hashiguchi;
Junhui Yuan;
Akiko Yoshimura;
Kei Murayama;
Akira Ohtake;
Masahiro Ando;
Yu Hiramatsu;
Satoshi Ishihara;
Hajime Tanabe;
Yuji Okamoto;
Eiji Matsuura;
Takehiro Ueda;
Tatsushi Toda;
Sumimasa Yamashita;
Kenichiro Yamada;
Takashi Koide;
Hiroaki Yaguchi

Publication type:

journal article

Reply: DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.

Published in:

2018

By:

Ronchi, Dario;
Piga, Daniela;
Lamberti, Stefano;
Sciacco, Monica;
Corti, Stefania;
Moggio, Maurizio;
Bresolin, Nereo;
Comi, Giacomo Pietro;
Pietro Comi, Giacomo

Publication type:

Letter

DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.

Published in:

2018

By:

Caporali, Leonardo;
Bello, Luca;
Tagliavini, Francesca;
Morgia, Chiara La;
Maresca, Alessandra;
Di Vito, Lidia;
Liguori, Rocco;
Valentino, Maria Lucia;
Cecchin, Diego;
Pegoraro, Elena;
Carelli, Valerio;
La Morgia, Chiara

Publication type:

Letter

Benign reversible course in infants manifesting clinicopathological features of fatal mitochondrial myopathy due to m.14674 T>C mt-tRNAGlu mutation.

Published in:

QJM: An International Journal of Medicine, 2013, v. 106, n. 10, p. 953, doi. 10.1093/qjmed/hct151

By:

Chen, T.-H.;
Tu, Y.-F.;
Goto, Y.-I.;
Jong, Y.-J.

Publication type:

Article

Subcellular origin of mitochondrial DNA deletions in human skeletal muscle.

Published in:

2018

By:

Vincent, Amy E.;
Rosa, Hannah S.;
Pabis, Kamil;
Lawless, Conor;
Chen, Chun;
Grünewald, Anne;
Rygiel, Karolina A.;
Rocha, Mariana C.;
Reeve, Amy K.;
Falkous, Gavin;
Perissi, Valentina;
White, Kathryn;
Davey, Tracey;
Petrof, Basil J.;
Sayer, Avan A.;
Cooper, Cyrus;
Deehan, David;
Taylor, Robert W.;
Turnbull, Doug M.;
Picard, Martin

Publication type:

journal article

Effectiveness and cost-effectiveness of a self-management group program to improve social participation in patients with neuromuscular disease and chronic fatigue: protocol of the Energetic study.

Published in:

BMC Neurology, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12883-015-0314-4

By:

Veenhuizen, Yvonne;
Cup, Edith H. C.;
Groothuis, Jan T.;
Hendriks, Jan C. M.;
Adang, Eddy M. M.;
van Engelen, Baziel G. M.;
Geurts, Alexander C. H.

Publication type:

Article

A study of familial MELAS: Evaluation of A3243G mutation, clinical phenotype, and magnetic resonance spectroscopy-monitored progression.

Published in:

Neurology India, 2012, v. 60, n. 1, p. 86, doi. 10.4103/0028-3886.93609

By:

Chunnuan Chen;
Nian Xiong;
Yuhui Wang;
Jing Xiong;
Jinsha Huang;
Zhentao Zhang;
Tao Wang

Publication type:

Article

Mitochondria: Inadvertent targets in chemotherapy-induced skeletal muscle toxicity and wasting?

Published in:

2016

By:

Sorensen, James;
Cheregi, Beatrice;
Timpani, Cara;
Nurgali, Kulmira;
Hayes, Alan;
Rybalka, Emma;
Sorensen, James C;
Cheregi, Beatrice D;
Timpani, Cara A

Publication type:

journal article

Cochlear dysfunction in patients with mitochondrial myopathy.

Published in:

2002

By:

Korres, Stavros;
Balatsouras, Dimitrios;
Manta, Panagiota;
Economou, Constantinos;
Yiotakis, Ioannis;
Adamopoulos, Georgios

Publication type:

journal article

Use of remimazolam as an adjunct to general anesthesia for an adolescent with MELAS syndrome.

Published in:

Pediatric Anesthesia & Critical Care Journal (PACCJ), 2022, v. 10, n. 2, p. 49, doi. 10.14587/paccj.2022.8

By:

Gyurgyik, N.;
Warren, J.;
Miketic, R.;
Tobias, J. D.

Publication type:

Article

Considerations about anesthesia in patients suffering from myopathy.

Published in:

Pediatric Anesthesia & Critical Care Journal (PACCJ), 2013, v. 1, n. 2, p. 43, doi. 10.14587/paccj.2013.10

By:

de Francisci, G.;
La Sala, M.;
Addabbo, G.;
De Santis, P.;
Galante, D.;
Caruselli, M.

Publication type:

Article

Kearns--Sayre syndrome: a case series of 35 adults and children.

Published in:

2014

By:

Khambatta, Sherezade;
Nguyen, Douglas L.;
Beckman, Thomas J.;
Wittich, Christopher M.

Publication type:

Case Study

The POLG Polyglutamine Tract Variants in Iranian Patients with Multiple Sclerosis.

Published in:

Iranian Journal of Child Neurology, 2015, v. 9, n. 1, p. 37

By:

KHATAMI, Mehri;
HEIDARI, Mohammad Mehdi;
MANSOURI, Reza;
MOUSAVI, Fatemeh

Publication type:

Article

Malignant stroke in a ticagrelor non-responder as a complication following aneurysm treatment with the Pipeline Embolization Device™.

Published in:

Interventional Neuroradiology, 2017, v. 23, n. 3, p. 297, doi. 10.1177/1591019917697473

By:

Ghamasaee, Pegah;
Carr, Kevin;
Johnson, Jeremiah;
Grandhi, Ramesh

Publication type:

Article

Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes: an important cause of stroke in young people.

Published in:

Postgraduate Medical Journal, 2012, v. 88, n. 1040, p. 326, doi. 10.1136/postgradmedj-2011-130326

By:

John Aaron Goodfellow

Publication type:

Article

Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.

Published in:

2013

By:

Riley, Lisa G.;
Menezes, Minal J.;
Rudinger-Thirion, Joëlle;
Duff, Rachael;
de Lonlay, Pascale;
Rotig, Agnes;
Tchan, Michel C.;
Davis, Mark;
Cooper, Sandra T.;
Christodoulou, John

Publication type:

journal article

Mitochondrial membrane protein-associated neurodegeneration in a Turkish patient.

Published in:

2016

By:

Incecik, Faruk;
Hergüner, Ozlem M.;
Besen, Seyda;
Ceylaner, Serdar

Publication type:

Letter to the Editor

Gene and Substrate Therapy for Neurogenetic Disease: A Combined Approach to Treat Mitochondrial Myopathy.

Published in:: Neurology Alert, 2021, v. 41, n. 4, p. 1
Publication type:: Article

Correlation of Electromyography With Pathology in Myopathy.

Published in:

Neurology Alert, 2019, v. 38, n. 5, p. 0

By:

AHC MEDIA

Publication type:

Article

Leigh Syndrome: Insights and Implications from Advances in Next-generation Sequencing.

Published in:

Neurology Alert, 2016, v. 35, n. 9, p. 70

By:

Mallack, Eric;
Kosofsky, Barry E.

Publication type:

Article