Works matching DE "MITOCHONDRIAL myopathy"

Results: 112

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

My Diagnostic Odyssey—A Call to Expand Access to Genomic Testing for the Next Generation.

Published in:

Hastings Center Report, 2018, v. 48, p. S32, doi. 10.1002/hast.882

By:

Michelson, Jeremy

Publication type:

Article

Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.

Published in:: Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 3, p. 469, doi. 10.1002/mgg3.418
Publication type:: Article

Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.

Published in:

Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 3, p. 295, doi. 10.1002/mgg3.280

By:

Blackburn, Patrick R.;
Selcen, Duygu;
Gass, Jennifer M.;
Jackson, Jessica L.;
Macklin, Sarah;
Cousin, Margot A.;
Boczek, Nicole J.;
Klee, Eric W.;
Dimberg, Elliot L.;
Kennelly, Kathleen D.;
Atwal, Paldeep S.

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 Novel Mutation in the Mitochondrial DNA Cytochrome b Gene (MTCYB) in a Patient with Prader Willi Syndrome.

Published in:

Journal of Child Neurology, 2015, v. 30, n. 3, p. 378, doi. 10.1177/0883073814530499

By:

Yiş, Uluç;
Ezgü, Fatih Süheyl;
Karakaya, Pakize;
Polat, İpek;
Arslan, Nur;
Çankaya, Tufan;
Bozkaya, Özlem Giray;
Kurul, Semra Hız

Publication type:

Article

Exercise as a Therapeutic Strategy for Primary Mitochondrial Cytopathies.

Published in:

Journal of Child Neurology, 2014, v. 29, n. 9, p. 1225, doi. 10.1177/0883073814538512

By:

Tarnopolsky, Mark A.

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

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

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

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

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

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

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

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

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

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

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

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

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

Pure exercise intolerance and ophthalmoplegia associated with the m.12,294G > A mutation in the MT-TL2 gene: a case report.

Published in:

2017

By:

Soldath, Patrick;
Madsen, Karen Lindhardt;
Buch, Astrid Emilie;
Duno, Morten;
Wibrand, Flemming;
Vissing, 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

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

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

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

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

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

Telbivudine associated mitochondrial myopathy.

Published in:

2018

By:

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

Publication type:

Case Study

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

Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans.

Published in:

Human Genetics, 2016, v. 135, n. 1, p. 21, doi. 10.1007/s00439-015-1608-8

By:

Shamseldin, Hanan;
Smith, Laura;
Kentab, Amal;
Alkhalidi, Hisham;
Summers, Brady;
Alsedairy, Haifa;
Xiong, Yong;
Gupta, Vandana;
Alkuraya, Fowzan

Publication type:

Article

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

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

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

A Case of Infantile Reversible Cytochrome C Oxidase Deficiency Myopathy in Taiwan: A 4‐Year Follow‐Up.

Published in:

Case Reports in Medicine, 2025, v. 2025, p. 1, doi. 10.1155/carm/1823517

By:

Ma, Yu-Ting;
Lin, Ju-Li;
Lai, Ming-Wei;
Chou, I-Jun;
Hwang, Mao-Sheng;
Le, Minh H. N.

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

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

Case report: perioperative management of caesarean section for a parturient with mitochondrial myopathy.

Published in:

BMC Anesthesiology, 2017, v. 17, p. 1, doi. 10.1186/s12871-017-0385-4

By:

Qiang Zheng;
Penghui Wei;
Jinfeng Zhou;
Haipeng Zhou;
Fucheng Ji;
Wenxi Tang;
Jianjun Li

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

Skeletal muscle reoxygenation after high-intensity exercise in mitochondrial myopathy.

Published in:

European Journal of Applied Physiology, 2012, v. 112, n. 5, p. 1763, doi. 10.1007/s00421-011-2136-4

By:

Bravo, Daniela;
Gimenes, Ana;
Nascimento, Rúbia;
Ferreira, Eloara;
Siqueira, Ana;
Meda, Ethiane;
Neder, J.;
Nery, Luiz

Publication type:

Article

Supplemental oxygen and muscle metabolism in mitochondrial myopathy patients.

Published in:

2007

By:

Trenell, Michael I;
Sue, Carolyn M;
Thompson, Campbell H;
Kemp, Graham J

Publication type:

journal article