Works about MITOCHONDRIAL encephalomyopathies

Results: 112

Genetic migraine disorders and the response to calcitonin gene‐related peptide antagonist treatment.

Published in:

Headache: The Journal of Head & Face Pain, 2025, v. 65, n. 6, p. 1041, doi. 10.1111/head.14942

By:

Kuczynski, Andrea M.;
Kingston, William S.

Publication type:

Article

Renal cell carcinoma in a pediatric patient with an inherited mitochondrial mutation.

Published in:

2005

By:

Sangkhathat, Surasak;
Kusafuka, Takeshi;
Yoneda, Akihiro;
Kuroda, Seika;
Tanaka, Mio;
Sakai, Norio;
Fukuzawa, Masahiro;
Tanaka, Yukichi

Publication type:

journal article

Distinctive diffusion-weighted imaging features in late-onset genetic leukoencephalopathies.

Published in:

Neuroradiology, 2021, v. 63, n. 1, p. 153, doi. 10.1007/s00234-020-02543-4

By:

De Cocker, Laurens J. L.;
Castillo, Mauricio

Publication type:

Article

Response regarding involvement of the cerebral veins in MELAS syndrome.

Published in:

2017

By:

Whitehead, Matthew;
Wien, Michael;
Lee, Bonmyong;
Bass, Nancy;
Gropman, Andrea

Publication type:

Letter

Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure.

Published in:

2016

By:

McKiernan, Patrick;
Ball, Sarah;
Santra, Saikat;
Foster, Katherine;
Fratter, Carl;
Poulton, Joanna;
Craig, Kate;
McFarland, Robert;
Rahman, Shamima;
Hargreaves, Iain;
Gupte, Girish;
Sharif, Khalid;
Taylor, Robert W.

Publication type:

journal article

NOTA CLÍNICA: Litio: Un tratamiento antiguo para una nueva indicación.

Published in:

Actas Espanolas de Psiquiatria, 2021, v. 49, n. 3, p. 125

By:

Basterreche, Nieves;
Arrúe, Aurora;
Arnaiz, Ainara;
Olivas, Olga;
Zumárraga, Mercedes

Publication type:

Article

Friedrich Nietzsches Krankheiten - eine unendliche Geschichte.

Published in:

Nietzsche - Studien, 2013, v. 42, n. 1, p. 283, doi. 10.1515/niet.2013.42.1.283

By:

Schiffter, Roland

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

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

Seizure semiology and EEG findings in mitochondrial diseases.

Published in:

Epilepsia (Series 4), 2014, v. 55, n. 5, p. 707, doi. 10.1111/epi.12570

By:

Chevallier, Justyna A.;
Von Allmen, Gretchen K.;
Koenig, Mary Kay

Publication type:

Article

Management von Patienten mit MELAS-Syndrom : Ein Fallbericht und allgemeine Besonderheiten aus anästhesiologischer Sicht.

Published in:

2020

By:

Roth, Sebastian;
Nienhaus, Johannes;
Nickel, Frank;
Kindgen-Milles, Detlef;
Kienbaum, Peter;
Huhn, Ragnar

Publication type:

journal article

Mitochondriale Erkrankungen benötigen ein umfassendes perioperatives Management.

Published in:

2016

By:

Finsterer, J.;
Zarrouk-Mahjoub, S.

Publication type:

Case Study

Catatonia as prominent feature of stroke-like episode in MELAS.

Published in:

2021

By:

Montano, V.;
Simoncini, C.;
LoGerfo, A.;
Siciliano, G.;
Mancuso, M.

Publication type:

Letter

L-Arginine prevents stroke-like episodes but not brain atrophy: a 20-year follow-up of a MELAS patient.

Published in:

2019

By:

Wei, Yanping;
Cui, Liying;
Pen, Bin

Publication type:

Case Study

ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy.

Published in:

2016

By:

D'Angelo, Roberto;
Rinaldi, Rita;
Carelli, Valerio;
Boschetti, Elisa;
Caporali, Leonardo;
Capristo, Mariantonietta;
Casali, Carlo;
Cenacchi, Giovanna;
Gramegna, Laura;
Lodi, Raffaele;
Pinna, Antonio;
Pironi, Loris;
Stanzani, Marta;
Tonon, Caterina;
D'Alessandro, Roberto;
De Giorgio, Roberto;
Gramegna, Laura Ludovica;
Pinna, Antonio Daniele

Publication type:

journal article

Validation of Siriraj Stroke Score in southeast Nigeria.

Published in:

International Journal of General Medicine, 2015, v. 8, p. 349, doi. 10.2147/IJGM.S87293

By:

Chukwuonye, Innocent Ijezie;
Ohagwu, Kenneth Arinze;
Uche, Enoch Ogbonnaya;
Chuku, Abali;
Nwanke, Rowland Ihezuo;
Ohagwu, Christopher Chukwuemeka;
Ezeani, Ignatius U.;
Nwabuko, Collins Ogbonna;
Nnoli, Martin Anazodo;
Oviasu, Efosa;
Ogah, Okechukwu Samuel

Publication type:

Article

Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 3, p. 325, doi. 10.1038/ejhg.2014.128

By:

Matilainen, Sanna;
Isohanni, Pirjo;
Euro, Liliya;
Lönnqvist, Tuula;
Pihko, Helena;
Kivelä, Tero;
Knuutila, Sakari;
Suomalainen, Anu

Publication type:

Article

A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 5, p. 571, doi. 10.1038/ejhg.2012.153

By:

Roos, Sara;
Darin, Niklas;
Kollberg, Gittan;
Andersson Grönlund, Marita;
Tulinius, Mar;
Holme, Elisabeth;
Moslemi, Ali-Reza;
Oldfors, Anders

Publication type:

Article

Late-onset MELAS syndrome with mtDNA 14453G→A mutation masquerading as an acute encephalitis: a case report.

Published in:

2020

By:

Yokota, Yuki;
Hara, Makoto;
Akimoto, Takayoshi;
Mizoguchi, Tomotaka;
Goto, Yu-ichi;
Nishino, Ichizo;
Kamei, Satoshi;
Nakajima, Hideto

Publication type:

journal article

Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity.

Published in:

2021

By:

Sharma, Rohit;
Reinstadler, Bryn;
Engelstad, Kristin;
Skinner, Owen S.;
Stackowitz, Erin;
Haller, Ronald G.;
Clish, Clary B.;
Pierce, Kerry;
Walker, Melissa A.;
Fryer, Robert;
Oglesbee, Devin;
Xiangling Mao;
Shungu, Dikoma C.;
Khatri, Ashok;
Michio Hirano;
De Vivo, Darryl C.;
Mootha, Vamsi K.;
Mao, Xiangling;
Hirano, Michio

Publication type:

journal article

Mutations in coenzyme Q10 biosynthetic genes.

Published in:

2007

By:

DiMauro, Salvatore;
Quinzii, Catarina M.;
Hirano, Michio

Publication type:

journal article

An Indian Case Study on Mitochondrial Neurogastrointestinal Encephalomyopathy.

Published in:

Archives of Medicine & Health Sciences, 2024, v. 12, n. 2, p. 269, doi. 10.4103/amhs.amhs_295_23

By:

Kareem, Shabana;
Mathai, Reemy Sara

Publication type:

Article

The characteristics of cardiac involvement in 113 patients with mitochondrial encephalomyopathy with lactic academia and stroke-like episodes.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2022, v. 22, n. 5, p. 422, doi. 10.3969/j.issn.1672-6731.2022.05.014

By:

ZHAO Xu-tong;
WANG Jie;
ZHUO Yong-jie;
WANG Qi;
YANG Ying;
LIU Lin;
DING Wen-hui;
YUAN Yun;
WANG Zhao-xia

Publication type:

Article

Neurosyphilis easily misdiagnosed as mitochondrial encephalomyopathy with lactic academia and strokelike episodes: one case report.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2021, v. 21, n. 5, p. 395, doi. 10.3969/j.issn.1672-6731.2021.05.011

By:

YUAN Jun;
WANG Si-fen;
FU Jie;
HUANG Zhi-hong;
TANG Zhen-yu;
QI Xue-liang

Publication type:

Article

Bioinformatics analysis of mitochondrial encephalomyopathy with lactic acidemia and stroke-like episodes geneome microarray based on GEO database.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2020, v. 20, n. 4, p. 347, doi. 10.3969/j.issn.1672-6731.2020.04.015

By:

XU Qian;
GAO Yang;
LI Lei;
YAN Jun;
WANG Li-ling;
REN Tao-jie

Publication type:

Article

Clinical features of the late-onset mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2020, v. 20, n. 3, p. 224, doi. 10.3969/j.issn.1672-6731.2020.03.015

By:

ZHAO Dan-hua;
ZHAO Xu-tong;
XING Hai-ying;
ZHANG Xiao;
ZHANG Zhe;
LIU Xian-zeng;
YUAN Yun;
WANG Zhao-xia

Publication type:

Article

Mitochondrial encephalomyopathy with lactic acidemia and stroke-like episodes.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2018, v. 18, n. 11, p. 818, doi. 10.3969/j.issn.1672-6731.2018.11.011

By:

YAN Xiao-ling;
ZHANG Xue-bin;
JIN Shu-mei;
TANG Fan;
HAN Zhu-yu

Publication type:

Article

The m.3243A > G mutation load in hair follicles from different scalp regions of patients with MELAS.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2018, v. 18, n. 8, p. 577, doi. 10.3969/j.issn.1672-6731.2018.08.004

By:

LU Yuan-yuan;
ZHAO Xu-tong;
WANG Qing-qing;
ZHANG Xiao;
YUAN Yun;
WANG Zhao-xia

Publication type:

Article

Research progress of clinical study on cerebrovascular disease.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2018, v. 18, n. 2, p. 89, doi. 10.3969/j.issn.1672-6731.2018.02.003

By:

JIANG Yan-ping;
ZENG Yu-ping;
WU Bo

Publication type:

Article

Kearns-Sayre syndrome: An unusual ophthalmic presentation.

Published in:

Oman Journal of Ophthalmology, 2012, v. 5, n. 2, p. 115, doi. 10.4103/0974-620X.99377

By:

Ahmad, Syed S.;
Ghani, Shuaibah A.

Publication type:

Article

A diabetic subject with MELAS and antiphospholipid syndrome.

Published in:

2003

By:

Li, Hung-Yuan;
Yang, Wei-Shiung;
Tai, Tong-Yuan;
Chuang, Lee-Ming

Publication type:

Case Study

High degree of mitochondrial 3243 mutation in gastric biopsy specimen in a patient with MELAS and diabetes complicated by marked gastrointestinal abnormalities.

Published in:

2003

By:

Inoue, Kaori;
Ikegami, Hiroshi;
Fujisawa, Tomomi;
Kawabata, Yumiko;
Shintani, Maki;
Nujima, Koji;
Masaya, Ono;
Nishino, Masanori;
Itoi-Babaya, Michiko;
Babaya, Naru;
Ogihara, Toshio;
Nijima, Koji

Publication type:

Case Study

Left ventricular hypertrophy and diastolic dysfunction in mitochondrial diabetes.

Published in:

2001

By:

Momiyama, Yukihiko;
Suzuki, Yoshihiko;
Ohsuzu, Fumitaka;
Atsumi, Yoshihito;
Matsuoka, Kempei;
Kimura, Mitsuru;
Momiyama, Y;
Suzuki, Y;
Ohsuzu, F;
Atsumi, Y;
Matsuoka, K;
Kimura, M

Publication type:

Letter

Mitochondrial Neurogastrointestinal Encephalomyopathy: A Nonrenal Indication for Peritoneal Dialysis.

Published in:

Indian Journal of Nephrology, 2018, v. 28, n. 4, p. 310, doi. 10.4103/ijn.IJN_404_17

By:

Chandra, V. S.;
Lakshmi, B. Sanggetha;
Devi, S. V. V. Padmavathi;
Praveen, N.;
Sameera, N. S.;
Reddy, A. S.;
Ram, R.;
Kumar, V. S.

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

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

Published in:

Journal of Neurology, 2014, v. 261, n. 3, p. 504, doi. 10.1007/s00415-013-7225-3

By:

Mancuso, Michelangelo;
Orsucci, Daniele;
Angelini, Corrado;
Bertini, Enrico;
Carelli, Valerio;
Comi, Giacomo;
Donati, Alice;
Minetti, Carlo;
Moggio, Maurizio;
Mongini, Tiziana;
Servidei, Serenella;
Tonin, Paola;
Toscano, Antonio;
Uziel, Graziella;
Bruno, Claudio;
Ienco, Elena;
Filosto, Massimiliano;
Lamperti, Costanza;
Catteruccia, Michela;
Moroni, Isabella

Publication type:

Article

Neuroimaging characteristics in mitochondrial encephalopathies associated with the m.3243A>G MTTL1 mutation.

Published in:

Journal of Neurology, 2013, v. 260, n. 4, p. 1071, doi. 10.1007/s00415-012-6763-4

By:

Tschampa, Henriette;
Urbach, Horst;
Greschus, Susanne;
Kunz, Wolfram;
Kornblum, Cornelia

Publication type:

Article

Mitochondrial ataxia - Unravelling the puzzle.

Published in:

Annals of Movement Disorders, 2024, v. 7, n. 2, p. 78, doi. 10.4103/aomd.aomd_63_24

By:

Pandita, Neha;
Ganguly, Jacky;
Kumar, Hrishikesh

Publication type:

Article

Anesthetic Management for Pediatric Mitochondrial Disease.

Published in:

International Student Journal of Nurse Anesthesia, 2017, v. 16, n. 3, p. 18

By:

Nonghin, Chadchadin

Publication type:

Article

Cerebral imaging in paediatric mitochondrial disorders.

Published in:

Neuroradiology Journal, 2018, v. 31, n. 6, p. 596, doi. 10.1177/1971400918786054

By:

Finsterer, Josef;
Zarrouk-Mahjoub, Sinda

Publication type:

Article

The Role of Brain MRI in Mitochondrial Neurogastrointestinal Encephalomyopathy.

Published in:

Neuroradiology Journal, 2013, v. 26, n. 5, p. 520, doi. 10.1177/197140091302600505

By:

SCARPELLI, MAURO;
RICCIARDI, GIUSEPPE KENNETH;
BELTRAMELLO, ALBERTO;
ZOCCA, ISAEBELLA;
CALABRIA, FRANCESCA;
RUSSIGNAN, ANNA;
ZAPPINI, FRANCESCA;
COTELLI, MARIA SOFIA;
PADOVANI, ALESSANDRO;
TOMELLERI, GIULIANO;
FILOSTO, MASSIMILIANO;
TONIN, PAOLA

Publication type:

Article

Influenza A H1N1 Related Acute Necrotizing Encephalopathy: Radiological Findings in Adulthood.

Published in:

Neuroradiology Journal, 2012, v. 25, n. 4, p. 397, doi. 10.1177/197140091202500401

By:

Ventura, E.;
Summa, A.;
Ormitti, F.;
Picetti, E.;
Crisi, G.

Publication type:

Article

Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy.

Published in:

2001

By:

Loeffen, Jan;
Elpeleg, Orly;
Smeitink, Jan;
Smeets, Roel;
Stöckler-Ipsiroglu, Sylvia;
Mandel, Hanna;
Sengers, Rob;
Trijbels, Frans;
Van Den Heuvel, Lambert;
Loeffen, J;
Elpeleg, O;
Smeitink, J;
Smeets, R;
Stöckler-Ipsiroglu, S;
Mandel, H;
Sengers, R;
Trijbels, F;
van den Heuvel, L

Publication type:

journal article

The mitochondrial DNA A8344G mutation in Leigh syndrome revealed by analysis in paraffin-embedded sections: revisiting the past.

Published in:

1998

By:

Santorelli, F. M.;
Tanji, K.;
Shanske, S.;
Krishna, S.;
Schmidt, R. E.;
Greenwood, R. S.;
DiMauro, S.;
de Vivo, D. C.

Publication type:

journal article

Differentiating MELAS from Bland Ischemic Stroke: Clinicoradiologic Criteria.

Published in:: Neurology Alert, 2023, v. 43, n. 1, p. 1
Publication type:: Article

Tubular aggregates caused by serine active site containing 1 ( SERAC1) mutations in a patient with a mitochondrial encephalopathy.

Published in:

Neuropathology & Applied Neurobiology, 2015, v. 41, n. 3, p. 399, doi. 10.1111/nan.12190

By:

Wedatilake, Yehani;
Plagnol, Vincent;
Anderson, Glenn;
Paine, Simon M. L.;
Clayton, Peter T.;
Jacques, Thomas S.;
Rahman, Shamima

Publication type:

Article

A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria.

Published in:

2010

By:

Ostergaard, Elsebet;
Schwartz, Marianne;
Batbayli, Mustafa;
Christensen, Ernst;
Hjalmarson, Ola;
Kollberg, Gittan;
Holme, Elisabeth

Publication type:

journal article

Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy.

Published in:

1997

By:

Lam, C W;
Lau, C H;
Williams, J C;
Chan, Y W;
Wong, L J

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