Works matching DE "MITOCHONDRIAL myopathy"

Results: 115

Telbivudine associated mitochondrial myopathy.

Published in:

2018

By:

Lim, Su‐Shen;
Liao, Hsien‐Tzung;
Tsai, Chang‐Youh

Publication type:

Case Study

New gout test: enhanced ex vivo cytokine production from PBMCS in common gout patients and a gout patient with Kearns-Sayre syndrome.

Published in:

Clinical Rheumatology, 2014, v. 33, n. 9, p. 1341, doi. 10.1007/s10067-014-2620-4

By:

Jansen, Tim;
Berendsen, Dianne;
Crisan, Tania;
Cleophas, Maartje;
Janssen, Mirian;
Joosten, Leo

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

Novel 5.712 kb mitochondrial DNA deletion in a patient with Pearson syndrome: A case report.

Published in:

Molecular Medicine Reports, 2015, v. 11, n. 5, p. 3741, doi. 10.3892/mmr.2014.3127

By:

JOONHONG PARK;
HYEJIN RYU;
WOORI JANG;
HYOJIN CHAE;
MYUNGSHIN KIM;
YONGGOO KIM;
JIYEON KIM;
JAE WOOK LEE;
NACK-GYUN CHUNG;
BIN CHO;
BYUNG KYU SUH

Publication type:

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

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

Mitochondrial diseases and epilepsy.

Published in:

Epilepsia (Series 4), 2012, v. 53, p. 92, doi. 10.1111/j.1528-1167.2012.03618.x

By:

Bindoff, Laurence A.;
Engelsen, Bernt A.

Publication type:

Article

MELAS/SANDO overlap syndrome associated with POLG1 mutations.

Published in:

2012

By:

Hansen, Niels;
Zwarg, Thomas;
Wanke, Isabel;
Zierz, Stephan;
Kastrup, Oliver;
Deschauer, Marcus

Publication type:

Letter

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

Intravoxel incoherent motion magnetic resonance imaging findings in the acute phase of MELAS: a case report.

Published in:

Brain & Behavior, 2014, v. 4, n. 6, p. 798, doi. 10.1002/brb3.282

By:

Uehara, Ryuji;
Yamashita, Koji;
Hiwatashi, Akio;
Togao, Osamu;
Kikuchi, Kazufumi;
Yokoyama, Jun;
Matsuse, Dai;
Yoshiura, Takashi;
Honda, Hiroshi

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

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

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 7, p. 902, doi. 10.1038/ejhg.2013.269

By:

Spiegel, Ronen;
Saada, Ann;
Halvardson, Jonatan;
Soiferman, Devorah;
Shaag, Avraham;
Edvardson, Simon;
Horovitz, Yoseph;
Khayat, Morad;
Shalev, Stavit A;
Feuk, Lars;
Elpeleg, Orly

Publication type:

Article

Differences in genetic defects and morphology of eye- and limb muscles in mitochondrial myopathy.

Published in:

Acta Ophthalmologica (1755375X), 2015, v. 93, n. 4, p. e306, doi. 10.1111/aos.12558

By:

Levison, Lotte;
Dunø, Morten;
Risom, Lotte;
Toft, Peter B.;
Vissing, John

Publication type:

Article

An overview of response pathways for protection of mitochondria from protein misfolding stress.

Published in:

Indian Journal of Biochemistry & Biophysics, 2025, v. 62, n. 3, p. 287, doi. 10.56042/ijbb.v62i3.12475

By:

Ali, Mudassar;
Kar, Debanjan;
Anjali;
Bhattacharjee, Sarbani;
Mapa, Koyeli

Publication type:

Article

Don't stress: a case report of regional anesthesia as the primary anesthetic for gynecologic surgery in a patient with mitochondrial myopathy and possible malignant hyperthermia susceptibility.

Published in:

BMC Anesthesiology, 2019, v. 19, n. 1, p. 1, doi. 10.1186/s12871-019-0909-1

By:

Pepper, Marci B.;
Njathi-Ori, Catherine;
Kinney, Michelle Ochs

Publication type:

Article

Transient ischemic attack-like episodes without stroke-like lesions in MELAS.

Published in:

Pediatric Radiology, 2013, v. 43, n. 10, p. 1400, doi. 10.1007/s00247-013-2661-x

By:

Mitani, Tadahiro;
Aida, Noriko;
Tomiyasu, Moyoko;
Wada, Takahito;
Osaka, Hitoshi

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

IN REGARD TO "AUTISM IN THE SON OF A WOMAN WITH MITOCHONDRIAL MYOPATHY AND DYSAUTONOMIA: A CASE REPORT".

Published in:

2016

By:

Fluegge, Keith;
Brown, Bradley D.

Publication type:

Letter to the Editor

Autism in the Son of a Woman with Mitochondrial Myopathy and Dysautonomia: A Case Report.

Published in:

Innovations in Clinical Neuroscience, 2015, v. 12, n. 9/10, p. 29

By:

BROWN, BRADLEY D.;
RAIS, THEODORE

Publication type:

Article

Navigating Life With Primary Mitochondrial Myopathies: The Importance of the Patient Voice and Implications for Clinical Practice.

Published in:

Journal of Primary Care & Community Health, 2023, p. 1, doi. 10.1177/21501319231193875

By:

Moore, Margaret;
Yeske, Philip;
Parikh, Sumit

Publication type:

Article

Mitochondrial Myopathy in a 21-Year-Old Man Presenting With Bilateral Lower Extremity Weakness and Swelling.

Published in:

Journal of Primary Care & Community Health, 2023, p. 1, doi. 10.1177/21501319231172697

By:

Bharathidasan, Kavya;
Evans, Abbie;
Fernandez, Fabiana Monte Alegre Olmos;
Motes, Arunee Tansrisook;
Nugent, Kenneth

Publication type:

Article

Validation and Application of a Custom-Designed Targeted Next-Generation Sequencing Panel for the Diagnostic Mutational Profiling of Solid Tumors.

Published in:

PLoS ONE, 2016, v. 11, n. 4, p. 1, doi. 10.1371/journal.pone.0154038

By:

Froyen, Guy;
Broekmans, An;
Hillen, Femke;
Pat, Karin;
Achten, Ruth;
Mebis, Jeroen;
Rummens, Jean-Luc;
Willemse, Johan;
Maes, Brigitte

Publication type:

Article

Recurrent episodic acute kidney injury as presenting manifestation of mitochondrial myopathy.

Published in:

Indian Journal of Nephrology, 2014, v. 24, n. 6, p. 387, doi. 10.4103/0971-4065.133027

By:

Matthai, T. P.;
Zachariah, U. G.;
Matthai, S. M.

Publication type:

Article

Frequency of MELAS main mutation in a phenotype-targeted young ischemic stroke patient population.

Published in:

Journal of Neurology, 2016, v. 263, n. 2, p. 257, doi. 10.1007/s00415-015-7969-z

By:

Tatlisumak, Turgut;
Putaala, Jukka;
Innilä, Markus;
Enzinger, Christian;
Metso, Tiina;
Curtze, Sami;
Sarnowski, Bettina;
Amaral-Silva, Alexandre;
Jungehulsing, Gerhard;
Tanislav, Christian;
Thijs, Vincent;
Rolfs, Arndt;
Norrving, Bo;
Fazekas, Franz;
Suomalainen, Anu;
Kolodny, Edwin

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

Cost-effectiveness of home mechanical ventilation in children living in a developing country.

Published in:

Anaesthesiology Intensive Therapy / Anestezjologia, Intensywna Terapia, 2019, v. 51, n. 1, p. 35, doi. 10.5603/AIT.a2019.0006

By:

Hassani, Seyed Abbas;
Navaei, Safoura;
Shirzadi, Rohola;
Rafiemanesh, Hosein;
Masiha, Farzad;
Keivanfar, Majid;
Tahernia, Leili;
Moazzami, Babak;
Azizi, Gholamreza;
Aghaali, Mohammad;
Modaresi, Mohammadreza

Publication type:

Article

Poster 302: Visual Deficits and Cognitive Impairments as the Presenting Symptoms of an Adolescent With Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke (MELAS Syndrome): A Case Report.

Published in:

2009

By:

Kessel, Tamar;
Lin, Chi‐Chang D.

Publication type:

Abstract

Case Study of a Patient with Mitochondrial Cytopathy.

Published in:

International Student Journal of Nurse Anesthesia, 2020, v. 19, n. 1, p. 58

By:

Guilmette, Daniel

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

Early Onset of Diabetes Mellitus Accelerates Cognitive Decline in Japanese Patients with Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes.

Published in:

Tohoku Journal of Experimental Medicine, 2016, v. 238, n. 4, p. 311, doi. 10.1620/tjem.238.311

By:

Takaaki Murakami;
Yuya Shinoto;
Shin Yonemitsu;
Seiji Muro;
Shogo Oki;
Yasutoshi Koga;
Yu-ichi Goto;
Daita Kaneda

Publication type:

Article

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

MELAS syndrome in an Indigenous Australian woman.

Published in:

2011

By:

Conway, Luke J.;
Robertson, Thomas E.;
McGill, James J.;
Hanson, Josh P.

Publication type:

Letter

Chronic Binge Alcohol-Induced Dysregulation of Mitochondrial-Related Genes in Skeletal Muscle of Simian Immunodeficiency Virus-Infected Rhesus Macaques at End-Stage Disease.

Published in:

Alcohol & Alcoholism, 2017, v. 52, n. 3, p. 298, doi. 10.1093/alcalc/agw107

By:

Duplanty, Anthony A.;
Simon, Liz;
Molina, Patricia E.

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

A new case of malonyl coenzyme A decarboxylase deficiency presenting with cardiomyopathy.

Published in:

1997

By:

Yano, S;
Sweetman, L;
Thorburn, D R;
Mofidi, S;
Williams, J C

Publication type:

journal 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

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

Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies.

Published in:

BMC Genomics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2164-15-91

By:

Kalko, Susana Graciela;
Paco, Sonia;
Jou, Cristina;
Rodríguez, Maria Angels;
Meznaric, Marija;
Rogac, Mihael;
Jekovec-Vrhovsek, Maja;
Sciacco, Monica;
Moggio, Maurizio;
Fagiolari, Gigliola;
De Paepe, Boel;
De Meirleir, Linda;
Ferrer, Isidre;
Roig-Quilis, Manel;
Munell, Francina;
Montoya, Julio;
López-Gallardo, Eduardo;
Ruiz-Pesini, Eduardo;
Artuch, Rafael;
Montero, Raquel

Publication type:

Article

Nursing care of a child with mitochondrial myopathy with MELAS syndrome and type 1 respiratory failure.

Published in:

Chinese Nursing Research, 2018, v. 32, n. 23, p. 3817, doi. 10.12102/j.issn.1009-6493.2018.23.048

By:

Xu Xiaogai;
Jing Hua

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

Celastrol Induces Mitochondria-Mediated Apoptosis in Hepatocellular Carcinoma Bel-7402 Cells.

Published in:

American Journal of Chinese Medicine, 2015, v. 43, n. 1, p. 137, doi. 10.1142/S0192415X15500093

By:

Li, Pei-Pei;
He, Wei;
Yuan, Ping-Fan;
Song, Sha-Sha;
Lu, Jing-Tao;
Wei, Wei

Publication type:

Article

Anesthetic Management in Pediatric Patient for Percutaneous Endoscopic Gastrostomy with Mitochondrial Myopathy: Leigh Syndrome.

Published in:

Anesthesia: Essays & Researches, 2018, v. 12, n. 1, p. 276, doi. 10.4103/aer.AER_200_17

By:

Kilic, Ebru;
Gerenli, Nelgin;
Akdemir, Mehmet;
Tastan, Necmi;
Atag, Egemen

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