Works matching Mitochondrial myopathy

Results: 969

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Mitochondrial myopathy presenting as fibromyalgia: a case report.

Published in:

2012

By:

Abdullah, Mishal;
Vishwanath, Sahana;
Elbalkhi, Amro;
Ambrus, Julian L Jr

Publication type:

journal 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

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

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

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

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

Telbivudine associated mitochondrial myopathy.

Published in:

2018

By:

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

Publication type:

Case Study

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

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

General anesthesia without neuromuscular blockade for a child with mitochondrial myopathy.

Published in:

2012

By:

Jeon, Younghoon;
Kim, Hyunjae;
Son, Byungdoo

Publication type:

Letter

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

The Phenotypic Range of Mitochondrial Myopathies and Disorders is More Diverse Than Expected.

Published in:

Annals of Indian Academy of Neurology, 2024, v. 27, n. 4, p. 452, doi. 10.4103/aian.aian_76_24

By:

Finsterer, Josef

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

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

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

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

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

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

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

Molecular basis for treatment of mitochondrial myopathies.

Published in:

2000

By:

Taylor, R W;
Wardell, T M;
Lightowlers, R N;
Turnbull, D M

Publication type:

journal 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

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

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

Advances in Management of Mitochondrial Myopathies.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 11, p. 5411, doi. 10.3390/ijms26115411

By:

Bangeas, Athanasios;
Poulidou, Vasiliki;
Liampas, Ioannis;
Marogianni, Chrysa;
Aloizou, Athina-Maria;
Tsouris, Zisis;
Sgantzos, Markos;
Arnaoutoglou, Marianthi;
Bogdanos, Dimitrios P.;
Dardiotis, Efthimios;
Siokas, Vasileios

Publication type:

Article

Clinical Spectrum of Biopsy Proven Mitochondrial Myopathy.

Published in:

Neurology India, 2023, v. 71, n. 6, p. 1192, doi. 10.4103/0028-3886.391399

By:

Menon, Deepak;
Nair, Sruthi;
Radhakrishnan, Neelima;
Saraf, Udit;
Nair, Muralidharan

Publication type:

Article

Clinical and pathological characteristics of mitochondrial myopathy and the screening value of simplified serum lactic acid exercise test.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2016, v. 16, n. 12, p. 859, doi. 10.3969/j.issn.1672-6731.2016.12.009

By:

ZHU Xiao-fen;
DING Ji;
ZHU Xiao-qi;
LI Yuan-yuan;
DU Ai-lian

Publication type:

Article

Clinical pathological and genetic analysis of 2 cases of mitochondrial myopathy presented as acute motor axonal neuropathy.

Published in:

2014

By:

YIN Hou-min;
SHAO Yu-quan;
LIU Li;
SHEN Chun-hong;
DU Ai-lian

Publication type:

Case Study

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

Modified Exercise Test in Screening for Mitochondrial Myopathies – Adjustment of Workload in Relation to Muscle Strength.

Published in:

European Neurology, 2004, v. 51, n. 1, p. 38, doi. 10.1159/000074981

By:

Hammarén, Elisabet;
Rafsten, Lena;
Kreuter, Margareta;
Lindberg, Christopher

Publication type:

Article

MITOCHONDRIAL MYOPATHIES: CURRENT DIAGNOSIS (I).

Published in:

Romanian Journal of Neurology, 2010, v. 9, n. 4, p. 175, doi. 10.37897/rjn.2010.4.3

By:

Rasanu, Tudor;
Mehedinti, Teofil;
Hancu, Anca;
Alexianu, Marilena;
Damian, Irene;
Rasanu, Ioana

Publication type:

Article

Lactate production upon short-term non–ischemic forearm exercise in mitochondrial disorders and other myopathies.

Published in:

Journal of Neurology, 2006, v. 253, n. 6, p. 735, doi. 10.1007/s00415-006-0101-7

By:

Hanisch, Frank;
Eger, Katharina;
Bork, Silke;
Lehnich, Holger;
Deschauer, Marcus;
Zierz, Stephan

Publication type:

Article

Mitochondrial abnormalities in human sural nerves: fine structural evaluation of cases with mitochondrial myopathy, hereditary and non-hereditary neuropathies, and review of the literature.

Published in:

Acta Neuropathologica, 1991, v. 82, n. 6, p. 471, doi. 10.1007/BF00293381

By:

Schröder, J.;
Sommer, C.

Publication type:

Article