Works about MITOCHONDRIAL encephalomyopathies

Results: 111

Aseptic Pleocytosis Can Only be Classified as a Phenotypic Manifestation of MNGIE After Exclusion of all Differential Causes.

Published in:

2025

By:

Al-sahlawi, Zahra;
Redha, Noor Abdulla;
Hasan, Hasan

Publication type:

Letter

Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature.

Published in:

Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2019.00038

By:

Gagliardi, Delia;
Mauri, Eleonora;
Magri, Francesca;
Velardo, Daniele;
Meneri, Megi;
Abati, Elena;
Brusa, Roberta;
Faravelli, Irene;
Piga, Daniela;
Ronchi, Dario;
Triulzi, Fabio;
Peverelli, Lorenzo;
Sciacco, Monica;
Bresolin, Nereo;
Comi, Giacomo Pietro;
Corti, Stefania;
Govoni, Alessandra

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

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

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

Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function.

Published in:

2017

By:

Röeben, Benjamin;
Marquetand, Justus;
Bender, Benjamin;
Billing, Heiko;
Haack, Tobias B.;
Sanchez-Albisua, Iciar;
Schöls, Ludger;
Blom, Henk J.;
Synofzik, Matthis

Publication type:

Case Study

Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model.

Published in:

2017

By:

Tegelberg, Saara;
Tomašić, Nikica;
Kallijärvi, Jukka;
Purhonen, Janne;
Elmér, Eskil;
Lindberg, Eva;
Gisselsson Nord, David;
Soller, Maria;
Lesko, Nicole;
Wedell, Anna;
Bruhn, Helene;
Freyer, Christoph;
Stranneheim, Henrik;
Wibom, Rolf;
Nennesmo, Inger;
Wredenberg, Anna;
Eklund, Erik A.;
Fellman, Vineta;
Nord, David Gisselsson

Publication type:

journal article

Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders.

Published in:

2015

By:

Yatsuga, Shuichi;
Fujita, Yasunori;
Ishii, Akiko;
Fukumoto, Yoshihiro;
Arahata, Hajime;
Kakuma, Tatsuyuki;
Kojima, Toshio;
Ito, Masafumi;
Tanaka, Masashi;
Saiki, Reo;
Koga, Yasutoshi

Publication type:

journal article

Clinical phenotype of FASTKD2 mutation.

Published in:

Journal of Pediatric Neurosciences, 2021, v. 16, n. 4, p. 319, doi. 10.4103/jpn.JPN_199_20

By:

Shah, Ritesh;
Balasubramaniam, Seema

Publication type:

Article

A young child with recurrent episodes of headaches and vision loss: Diagnostic clues?

Published in:

Journal of Pediatric Neurosciences, 2021, v. 16, n. 1, p. 82, doi. 10.4103/jpn.JPN_91_20

By:

Panda, Prateek;
Sharawat, Indar;
Singh, Avinish;
Sherwani, Poonam

Publication type:

Article

Speech-Language and swallowing manifestations and rehabilitation in an 11-year-old girl with MELAS syndrome.

Published in:

Journal of Pediatric Neurosciences, 2015, v. 10, n. 1, p. 31, doi. 10.4103/1817-1745.154326

By:

Vandana, V. P.;
Bindu, Parayil Sankaran;
Sonam, Kothari;
Taly, Arun B.;
Gayathri, N.;
Madhu, N.;
Sinha, S.

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

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

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

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

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

Tumors masquerading as neurological diseases: A caution for clinicians in planning diagnosis and treatment.

Published in:

2020

By:

Vidhya Annapoorni, C;
Retnaswami, Chandra;
Mailankody, Pooja;
Katragadda, Pavan;
Pillai, Sivakumar;
Rangarajan, Anush;
Padmanabha, Hansashree;
Pendharkar, Hima;
Vidhya Annapoorni, C S;
Retnaswami, Chandra Sadanandavalli;
Pillai, Sivakumar Krishna

Publication type:

journal article

Pregnancy-precipitated status epilepticus: a rare presentation of MELAS syndrome.

Published in:

2007

By:

Sikdar, Sunandan;
Sahni, Vaibhav;
Miglani, Amit;
Daga, M. K.

Publication type:

Case Study

Precipitation of stroke-like event by chickenpox in a child with MELAS syndrome.

Published in:

2005

By:

Jian-Ren, Liu

Publication type:

journal article

Mitochondrial encephalomyopathy, lactic acidosis, and stroke‐like episodes with severe systemic symptoms: Pathology and biochemistry.

Published in:

2018

By:

Kondo, Hidehito;
Fujita, Yasuko;
Mizuno, Yosuke;
Kihara, Minako;
Murayama, Kei

Publication type:

Case Study

Novel mutation in SUCLA2 identified on sequencing analysis.

Published in:

Pediatrics International, 2016, v. 58, n. 7, p. 659, doi. 10.1111/ped.12921

By:

Güngör, Olcay;
Özkaya, Ahmet Kağan;
Güngör, Gülay;
Karaer, Kadri;
Dilber, Cengiz;
Aydin, Kürşad

Publication type:

Article

Search for mitochondrial DNA mutations in migraine subgroups.

Published in:

1999

By:

Haan, J;
Terwindt, GM;
Maassen, JA;
Hart, LM 't;
Frants, RR;
Ferrari, MD;
Terwindt, G M;
Maassen, J A;
Hart, L M;
Frants, R R;
Ferrari, M D

Publication type:

journal 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

Localization and amount of myoglobin and myoglobin mRNA in ragged-red fiber of patients with mitochondrial encephalomyopathy.

Published in:

1996

By:

Kunishige, Makoto;
Mitsui, Takao;
Akaike, Masashi;
Shono, Masayuki;
Kawai, Hisaomi;
Saito, Shiro;
Kunishige, M;
Mitsui, T;
Akaike, M;
Shono, M;
Kawai, H;
Saito, S

Publication type:

journal article

Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA.

Published in:

1996

By:

Campos, Yolanda;
Martin, Miguel Angel;
Lorenzo, Gustavo;
Aparicio, Manuel;
Cabello, Ana;
Arenas, Joaquin;
Campos, Y;
Martin, M A;
Lorenzo, G;
Aparicio, M;
Cabello, A;
Arenas, J

Publication type:

journal 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

Kardiologiczna manifestacja zespołu MELAS wywołana mutacją mDNA w pozycji 3243.

Published in:

Polish Heart Journal / Kardiologia Polska, 2014, v. 72, n. 1, p. 83, doi. 10.5603/KP.2014.0009

By:

Pawlak, Agnieszka;
Pronicki, Maciej;
Iwanicka-Pronicka, Katarzyna;
Kuśnierz, Jacek;
Ploski, Rafal;
Pollak, Agnieszka;
Gil, Robert J.

Publication type:

Article

Differentiating MELAS from Bland Ischemic Stroke: Clinicoradiologic Criteria.

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

Diagnosing POLG-related Diseases.

Published in:

Neurology Alert, 2015, v. 34, n. 11, p. 85

By:

Rubin, Michael

Publication type:

Article

Mitochondrial diseases in adults.

Published in:

2020

By:

La Morgia, C.;
Maresca, A.;
Caporali, L.;
Valentino, M. L.;
Carelli, V.

Publication type:

journal 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

Mitochondrial encephalomyopathy: six cases report and review of literature.

Published in:

Chinese Journal of Contemporary Neurology & Neurosurgery, 2014, v. 14, n. 7, p. 621, doi. 10.3969/j.issn.1672-6731.2014.07.013

By:

GUO Yuan;
TUO Jun;
WU Bo

Publication type:

Article

Letter re: Aseptic pleocytosis can only be classified as a phenotypic manifestation of MNGIE after exclusion of all differential causes.

Published in:

2024

By:

Finsterer, Josef;
Mehri, Sounira

Publication type:

Letter

Meningoencephalitis in a novel mutation in MNGIE (mitochondrial neurogastrointestinal encephalomyopathy) ending a familial diagnostic odyssey: A case series report.

Published in:

Journal of Central Nervous System Disease, 2024, p. 1, doi. 10.1177/11795735241241423

By:

Redha, Noor;
Al-Sahlawi, Zahra;
Hasan, Hasan;
Ghareeb, Sara;
Humaidan, Hani

Publication type:

Article

GlyNAC (Glycine and N-Acetylcysteine) Supplementation in Mice Increases Length of Life by Correcting Glutathione Deficiency, Oxidative Stress, Mitochondrial Dysfunction, Abnormalities in Mitophagy and Nutrient Sensing, and Genomic Damage.

Published in:

Nutrients, 2022, v. 14, n. 5, p. N.PAG, doi. 10.3390/nu14051114

By:

Kumar, Premranjan;
Osahon, Ob W.;
Sekhar, Rajagopal V.

Publication type:

Article

L-Arginine Reduces Nitro-Oxidative Stress in Cultured Cells with Mitochondrial Deficiency.

Published in:

Nutrients, 2021, v. 13, n. 2, p. 534, doi. 10.3390/nu13020534

By:

Barros, Camila D. S.;
Livramento, Jomênica B.;
Mouro, Margaret G.;
Higa, Elisa Mieko Suemitsu;
Moraes, Carlos T.;
Tengan, Celia Harumi;
Iacone, Roberto;
Valerio, Alessandra

Publication type:

Article

Bright and dark vessels on stroke imaging: different sides of the same coin?

Published in:

2016

By:

Vural, Atay;
Gocmen, Rahsan;
Oguz, Kader Karli;
Topcuoglu, Mehmet Akif;
Arsava, Ethem Murat

Publication type:

journal article

SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency.

Published in:

2018

By:

Rebelo, Adriana P.;
Saade, Dimah;
Pereira, Claudia V.;
Farooq, Amjad;
Huff, Tyler C.;
Abreu, Lisa;
Moraes, Carlos T.;
Mnatsakanova, Diana;
Mathews, Kathy;
Hua Yang;
Schon, Eric A.;
Zuchner, Stephan;
Shy, Michael E.;
Yang, Hua

Publication type:

journal article

Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy.

Published in:

2015

By:

Halter, Joerg P.;
Schüpbach, W. Michael M.;
Mandel, Hanna;
Casali, Carlo;
Orchard, Kim;
Collin, Matthew;
Valcarcel, David;
Rovelli, Attilio;
Filosto, Massimiliano;
Dotti, Maria T.;
Marotta, Giuseppe;
Pintos, Guillem;
Barba, Pere;
Accarino, Anna;
Ferra, Christelle;
Illa, Isabel;
Beguin, Yves;
Bakker, Jaap A.;
Boelens, Jaap J.;
de Coo, Irenaeus F. M.

Publication type:

journal article