Works matching Mitochondrial encephalomyopathies

Results: 665

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

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

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

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

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

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

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

Rare health conditions 62: acute flaccid myelitis, infantile onset encephalomyopathy mitochondrial DNA depletion syndrome and chronic granulomatous disease.

Published in:

British Journal of Healthcare Assistants, 2022, v. 16, n. 9, p. 422, doi. 10.12968/bjha.2022.16.9.422

By:

Barber, Chris

Publication type:

Article

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

Childhood mitochondrial encephalomyopathies: clinical course, diagnosis, neuroimaging findings, mtDNA mutations and outcome in six children.

Published in:

Italian Journal of Pediatrics, 2013, v. 39, n. 1, p. 60, doi. 10.1186/1824-7288-39-60

By:

Jun Lu;
Yuanyuan Huang

Publication type:

Article

Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalomyopathy-Like Syndrome with Polymerase-Gamma Mutations.

Published in:

Annals of Indian Academy of Neurology, 2019, v. 22, n. 3, p. 325, doi. 10.4103/aian.AIAN_34_18

By:

Hongyan Huang;
Xinglong Yang;
Ling Liu;
Yanming Xu

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

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

Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.

Published in:

2021

By:

Bonora, Elena;
Chakrabarty, Sanjiban;
Kellaris, Georgios;
Tsutsumi, Makiko;
Bianco, Francesca;
Bergamini, Christian;
Ullah, Farid;
Isidori, Federica;
Liparulo, Irene;
Diquigiovanni, Chiara;
Masin, Luca;
Rizzardi, Nicola;
Cratere, Mariapia Giuditta;
Boschetti, Elisa;
Papa, Valentina;
Maresca, Alessandra;
Cenacchi, Giovanna;
Casadio, Rita;
Martelli, Pierluigi;
Matera, Ivana

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

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

Young onset mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome: a case report.

Published in:

Critical Care Innovations, 2024, v. 7, n. 4, p. 43, doi. 10.32114/CCI.2024.7.4.43.48

By:

Goel, Kartik;
Singh, Divyanshu;
Bhargav, Ravi;
Kansagara, Harsh;
Kumar, Shailesh;
Yadav, Rupesh

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

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

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

Diagnosing Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes (MELAS) Requires Not Only Phenotypic But Also Genotypic Verification.

Published in:

Ochsner Journal, 2018, v. 18, n. 1, p. 4

By:

Finsterer, Josef;
Zarrouk-Mahjoub, Sinda

Publication type:

Article

Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome with an Unusual Pattern of Inheritance.

Published in:

2017

By:

Trikamji, Bhavesh;
Mohammadkhanli, Hadi;
Rafiei, Nastaran;
Mishra, Shri

Publication type:

Letter to the Editor

NEW HORIZONS IN THE TREATMENT OF MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY (MNGIE): FROM PATHOGENESIS TO THERAPIES.

Published in:

Folia Pomeranae Universitatis Technologiae Stetinensis Agricultura Alimentaria Piscaria et Zootechnica, 2025, v. 374, n. 73, p. 64, doi. 10.21005/AAPZ2025.73.1.6

By:

TRZMIEL, Dominika

Publication type:

Article

Mitochondrial encephalomyopathy showing prominent microvacuolation and necrosis of intestinal smooth muscle cells: a case diagnosed by rectal biopsy.

Published in:

Acta Neuropathologica, 1998, v. 96, n. 1, p. 86, doi. 10.1007/s004010050863

By:

Kuroiwa, T.;
Kuwata, Takeshi;
Nakayama, Takahiro;
Takemura, Tamiko;
Sakuta, Manabu;
Ichinose, Shizuko;
Goto, Yu-ichi;
Okeda, Riki

Publication type:

Article

AARS2 leukoencephalopathy: A new variant of mitochondrial encephalomyopathy.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 4, p. N.PAG, doi. 10.1002/mgg3.582

By:

Tang, Yi;
Qin, Qi;
Xing, Yi;
Guo, Dongmei;
Di, Li;
Jia, Jianping

Publication type:

Article

Mic60 is essential to maintain mitochondrial integrity and to prevent encephalomyopathy.

Published in:

Brain Pathology, 2023, v. 33, n. 4, p. 1, doi. 10.1111/bpa.13157

By:

Dong, Tingting;
Zhang, Zai‐Qiang;
Sun, Li‐Hong;
Zhang, Weilong;
Zhu, Zhaohui;
Lin, Lin;
Yang, Lin;
Lv, An;
Liu, Chunying;
Li, Qing;
Yang, Rui‐Feng;
Zhang, Xiuru;
Niu, Yamei;
Chen, Hou‐Zao;
Liu, De‐Pei;
Tong, Wei‐Min

Publication type:

Article

TARS2 c.470 C > G is a chinese-specific founder mutation in three unrelated families with mitochondrial encephalomyopathy.

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03365-w

By:

Zhang, Shujie;
Qin, Haisong;
Wang, Qingming;
Wang, Yingfei;
Liu, Yanhui;
Yang, Qi;
Luo, Jingsi;
Qin, Zailong;
Ji, Xiang;
Kan, Lijuan;
Geng, Guoxing;
Huang, Jing;
Wei, Shengkai;
Chen, Qiuli;
Shen, Yiping;
Yuan, Haiming;
Lai, Baoling

Publication type:

Article

Clinical analysis of elven families with mitochondrial encephalomyopathy in children.

Published in:

China Tropical Medicine, 2023, v. 23, n. 3, p. 227, doi. 10.13604/j.cnki.46-1064/r.2023.03.03

By:

HU Lu;
LU Jun

Publication type:

Article

Clinical and molecular characterization of a patient with mitochondrial Neurogastrointestinal Encephalomyopathy.

Published in:

2020

By:

Habibzadeh, Parham;
Silawi, Mohammad;
Dastsooz, Hassan;
Bahramjahan, Shima;
Ezzatzadegan Jahromi, Shahrokh;
Ostovan, Vahid Reza;
Yavarian, Majid;
Mofatteh, Mohammad;
Faghihi, Mohammad Ali

Publication type:

journal article

Evaluation of a Mitochondrial Disease Criteria Scoring System on Mitochondrial Encephalomyopathy in Chinese Patients.

Published in:

International Journal of Neuroscience, 2013, v. 123, n. 2, p. 93, doi. 10.3109/00207454.2012.732975

By:

Niu, Feng-Nan;
Chang, Lei-Lei;
Meng, Fan-Qing;
Zhang, Ping;
Niu, Qi;
Zhang, Shen-Ning;
Wang, Zhong-Yuan;
Xu, Yun

Publication type:

Article

Apoptosis is suspended in muscle of mitochondrial encephalomyopathies.

Published in:

Acta Neuropathologica, 2002, v. 103, n. 6, p. 531, doi. 10.1007/s00401-001-0502-8

By:

Ikezoe, Koji;
Nakagawa, Masahiro;
Yan, Chuanzhu;
Kira, Jun-ichi;
Goto, Yu-ichi;
Nonaka, Ikuya

Publication type:

Article

An autopsy case of mitochondrial encephalomyopathy with prominent degeneration in olivo-ponto-cerebellar system.

Published in:

Acta Neuropathologica, 1991, v. 83, n. 1, p. 99, doi. 10.1007/BF00294438

By:

Kageyama, Y.;
Ichikawa, K.;
Fujioka, A.;
Tsutsumi, A.;
Yorifuji, S.;
Miyoshi, K.

Publication type:

Article

Repeated Attacks of Dizziness Caused by a Rare Mitochondrial Encephalomyopathy.

Published in:

2018

By:

Teruo Toi;
Yasuyuki Nomura;
Akihiro Kishino;
Shuntaro Shigihara;
Takeshi Oshima;
Harumi Ishikawa;
Satoshi Kamei;
Hidemi Miyazaki

Publication type:

Case Study

Peripheral Neuropathy in Mitochondrial Encephalomyopathies.

Published in:

European Neurology, 1997, v. 37, n. 2, p. 110, doi. 10.1159/000117420

By:

Chu, Chun-Che;
Huang, Chin-Chang;
Fang, Wang;
Chu, Nai-Shin;
Pang, Cheng-Yoong;
Wei, Yau-Huei

Publication type:

Article

Safety and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase in Mitochondrial Neurogastrointestinal Encephalomyopathy.

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 4, p. 457, doi. 10.3390/jcm8040457

By:

Levene, Michelle;
Bain, Murray D.;
Moran, Nicholas F.;
Nirmalananthan, Niranjanan;
Poulton, Joanna;
Scarpelli, Mauro;
Filosto, Massimiliano;
Mandel, Hanna;
MacKinnon, Andrew D.;
Fairbanks, Lynette;
Pacitti, Dario;
Bax, Bridget E

Publication type:

Article

Mitochondrial Neurogastrointestinal Encephalomyopathy.

Published in:

Archives of Iranian Medicine (AIM), 2009, v. 12, n. 6, p. 588

By:

Borhani Haghighi, A.;
Nabavizadeh, A.;
Sass, J. O.;
Safari, A.;
Lankarani, K. B.

Publication type:

Article

Mitochondrial neurogastrointestinal encephalomyopathy associated with progressive hearing loss.

Published in:

2010

By:

HIRAKI, N.;
UDAKA, T.;
YAMAMOTO, H.;
KADOKAWA, Y.;
OHKUBO, J.;
SUZUKI, H.

Publication type:

Case Study

Anesthetic Management in Mitochondrial Encephalomyopathy: A Case Report.

Published in:

2017

By:

Yamamoto, Toru;
Miyazawa, Noriko;
Yamamoto, Shinichi;
Kawahara, Hiroshi

Publication type:

journal article

Different Phenotypes Caused by the Unique Mutation in the Same Family with Mitochondrial Encephalomyopathy.

Published in:

Biomedica, 2020, v. 36, n. 4, p. 388, doi. 10.51441/biomedica/5-85

By:

Xia, Hai-ping;
Niu, Feng-Nan;
Jin, Biao;
Zhao, Kang-Ren;
Ma, Rui;
Yu, Ming

Publication type:

Article

Vascular involvement in the pathogenesis of mitochondrial encephalomyopathies.

Published in:

Neurological Research, 2010, v. 32, n. 4, p. 403, doi. 10.1179/016164110X12670144526345

By:

Zhang, Zai-Qiang;
Niu, Song-Tao;
Liang, Xian-Hong;
Jian, Fan;
Wang, Yongjun

Publication type:

Article

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): case report with a new mutation.

Published in:

2010

By:

Barış, Zeren;
Eminoğlu, Tuba;
Dalgıç, Buket;
Tümer, Leyla;
Hasanoğlu, Alev;
Bariş, Zeren;
Eminoğlu, Tuba;
Dalgiç, Buket;
Tümer, Leyla;
Hasanoğlu, Alev

Publication type:

journal article

Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options.

Published in:

Frontiers in Cellular Neuroscience, 2017, v. 11, p. 1, doi. 10.3389/fncel.2017.00031

By:

Yadak, Rana;
Smitt, Peter Sillevis;
van Gisbergen, Marike W.;
van Til, Niek P.;
de Coo, Irenaeus F. M.

Publication type:

Article

Mitochondrial neurogastrointestinal encephalomyopathy in three siblings.

Published in:

Journal of Neurology, 2007, v. 254, n. 2, p. 146, doi. 10.1007/s00415-006-0255-3

By:

Schüpbach, W. M. M.;
Vadday, K.;
Schaller, A.;
Brekenfeld, C.;
Kappeler, L.;
Benoist, J. F.;
Xuan-Huong, C.;
Burgunder, J. M.;
Seibold, F.;
Gallati, S.;
Mattle, H. P.

Publication type:

Article

General anesthesia with remimazolam in a patient with mitochondrial encephalomyopathy: a case report.

Published in:

JA Clinical Reports, 2021, v. 7, n. 1, p. 1, doi. 10.1186/s40981-021-00454-8

By:

Suzuki, Yuji;
Doi, Matsuyuki;
Nakajima, Yoshiki

Publication type:

Article

Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach.

Published in:

Bone Marrow Transplantation, 2011, v. 46, n. 3, p. 330, doi. 10.1038/bmt.2010.100

By:

Halter, J.;
Schüpbach, W. M. M.;
Casali, C.;
Elhasid, R.;
Fay, K.;
Hammans, S.;
Illa, I.;
Kappeler, L.;
Krähenbühl, S.;
Lehmann, T.;
Mandel, H.;
Marti, R.;
Mattle, H.;
Orchard, K.;
Savage, D.;
Sue, C. M.;
Valcarcel, D.;
Gratwohl, A.;
Hirano, M.

Publication type:

Article

Case Report: Mitochondrial Encephalomyopathy Presents as Epilepsy, Ataxia, and Dystonia With a Rare Mutation in MT-TW.

Published in:

Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.679302

By:

Wang, Shuang;
Miao, Jing;
Feng, Jiachun

Publication type:

Article

Subacute‐onset cataract in a 29‐year‐old man with mitochondrial encephalomyopathy: A case report.

Published in:

2024

By:

Chen, Lu;
Zhong, Yueyang;
Xu, Jingjie;
Fu, Qiuli;
Yao, Ke

Publication type:

Case Study

Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications.

Published in:

Journal of Neurology, 2020, v. 267, n. 12, p. 3702, doi. 10.1007/s00415-020-10051-x

By:

D'Angelo, Roberto;
Boschetti, Elisa;
Amore, Giulia;
Costa, Roberta;
Pugliese, Alessia;
Caporali, Leonardo;
Gramegna, Laura Ludovica;
Papa, Valentina;
Vizioli, Luca;
Capristo, Mariantonietta;
Contin, Manuela;
Mohamed, Susan;
Cenacchi, Giovanna;
Lodi, Raffaele;
Morelli, Maria Cristina;
Fasano, Luca;
Pisani, Lara;
Cescon, Matteo;
Tonon, Caterina;
Pinna, Antonio Daniele

Publication type:

Article

Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy.

Published in:

Journal of Neurology, 2012, v. 259, n. 12, p. 2699, doi. 10.1007/s00415-012-6572-9

By:

Filosto, Massimiliano;
Scarpelli, Mauro;
Tonin, Paola;
Lucchini, Giovanna;
Pavan, Fabio;
Santus, Francesca;
Parini, Rossella;
Donati, Maria;
Cotelli, Maria;
Vielmi, Valentina;
Todeschini, Alice;
Canonico, Francesco;
Tomelleri, Giuliano;
Padovani, Alessandro;
Rovelli, Attilio

Publication type:

Article