Works matching Mitochondrial encephalomyopathies

Results: 584

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

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

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

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

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

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

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

Anesthetic Management in Mitochondrial Encephalomyopathy: A Case Report.

Published in:

2017

By:

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

Publication type:

journal 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

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

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

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

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

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

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

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

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

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

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

Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis.

Published in:

Case Reports in Neurology, 2012, v. 4, n. 3, p. 248, doi. 10.1159/000346260

By:

Scarpelli, Mauro;
Russignan, Anna;
Zombor, Melinda;
Bereczki, Csaba;
Zappini, Francesca;
Buono, Romina;
Bax, Bridget E.;
Padovani, Alessandro;
Tonin, Paola;
Filosto, Massimiliano

Publication type:

Article

Clinicopathology and Diagnosis Delay in a 40-Year-Old with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE).

Published in:

Case Reports in Gastroenterology, 2020, v. 14, n. 1, p. 124, doi. 10.1159/000506187

By:

Tawk, Antonios;
Hussein Kamarreddine, Mohammed;
Dagher, Mona;
Abboud, Ghadi;
Chams, Mohamad;
Ghandour-Hajj, Fatmeh;
Khoury, Mounir;
Farhat, Said

Publication type:

Article

Increased prevalence of vitiligo, but no evidence of premature ageing, in the skin of patients with bp 3243 mutation in mitochondrial DNA in the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome (MELAS).

Published in:

British Journal of Dermatology, 1999, v. 140, n. 4, p. 634, doi. 10.1046/j.1365-2133.1999.02761.x

By:

KARVONEN;
HAAPASAARI;
KALLIOINEN;
OIKARINEN;
HASSINEN;
K.MAJAMAA, AND;
Karvonen, Seija-Liisa

Publication type:

Article

Tachyduodenia in mitochondrial neurogastrointestinal encephalomyopathy.

Published in:

Neurogastroenterology & Motility, 2011, v. 23, n. 5, p. 408, doi. 10.1111/j.1365-2982.2011.01698.x

By:

SCHEFFER, R. C. H.;
SMOUT, A. J. P. M.

Publication type:

Article

Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes in an older adult mimicking cerebral infarction: a Chinese case report.

Published in:

Clinical Interventions in Aging, 2018, v. 13, p. 2421, doi. 10.2147/CIA.S186636

By:

Fang, Gao-Li;
Zheng, Yang;
Zhang, Yin-Xi

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

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 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

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

Cellular and metabolic changes in the liver tissue of patients with Mitochondrial Neurogastrointestinal Encephalomyopathy.

Published in:

Italian Journal of Anatomy & Embryology / Archivio Italiano di Anatomia Ed Embriologia, 2021, v. 125, p. 207

By:

Boschetti, Elisa;
Caporali, Leonardo;
D'Angelo, Roberto;
Tardio, Maria Lucia;
Costa, Roberta;
Accarino, Anna;
Malagelada, Carolina;
Righi, Valeria;
Costanzini, Anna;
D'Errico, Antonietta;
Cenacchi, Giovanna;
Sternini, Catia;
Stanghellini, Vincenzo;
Pironi, Loris;
Rinaldi, Rita;
Ratti, Stefano;
Manzoli, Lucia;
Carelli, Valerio;
De Giorgio, Roberto

Publication type:

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

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

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

Altered Dynamic Functional Connectivity in Patients With Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke‐Like Episodes (MELAS) at Acute and Chronic Stages: Shared and Specific Brain Connectivity Abnormalities.

Published in:

Journal of Magnetic Resonance Imaging, 2021, v. 53, n. 2, p. 427, doi. 10.1002/jmri.27353

By:

Wang, Rong;
Sun, Chong;
Lin, Jie;
Chen, Ne;
Hu, Bin;
Liu, Xueling;
Geng, Daoying;
Yang, Liqin;
Li, Yuxin

Publication type:

Article

Preclinical Toxicity Evaluation of Erythrocyte-Encapsulated Thymidine Phosphorylase in BALB/c Mice and Beagle Dogs: An Enzyme-Replacement Therapy for Mitochondrial Neurogastrointestinal Encephalomyopathy.

Published in:

Toxicological Sciences, 2013, v. 131, n. 1, p. 311, doi. 10.1093/toxsci/kfs278

By:

Levene, Michelle;
Coleman, David G.;
Kilpatrick, Hugh C.;
Fairbanks, Lynette D.;
Gangadharan, Babunilayam;
Gasson, Charlotte;
Bax, Bridget E.

Publication type:

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

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

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

Central nervous system changes in mitochondrial encephalomyopathy: light and electron microscopic study.

Published in:

Acta Neuropathologica, 1992, v. 83, n. 4, p. 449, doi. 10.1007/BF00713541

By:

Mizukami, K.;
Sasaki, M.;
Suzuki, T.;
Shiraishi, H.;
Koizumi, J.;
Ohkoshi, N.;
Ogata, T.;
Mori, N.;
Ban, S.;
Kosaka, K.

Publication type:

Article

Mitochondrial encephalomyopathies and cytochrome c oxidase deficiency: muscle culture study.

Published in:

Acta Neuropathologica, 1991, v. 82, n. 4, p. 286, doi. 10.1007/BF00308814

By:

Nonaka, I.;
Koga, Y.;
Kikuchi, A.;
Goto, Y.

Publication type:

Article

Mitochondrial encephalomyopathy.

Published in:

Acta Neuropathologica, 1987, v. 74, n. 3, p. 287, doi. 10.1007/BF00688194

By:

Oldfors, A.;
Tulinius, M.;
Holme, E.;
Kalimo, H.;
Kristiansson, B.;
Eriksson, B.

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

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

The development of an in vitro cerebral organoid model for investigating the pathomolecular mechanisms associated with the central nervous system involvement in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE).

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2018, v. 37, n. 11, p. 603, doi. 10.1080/15257770.2018.1492139

By:

Pacitti, Dario;
Bax, Bridget E.

Publication type:

Article

Quantification of Plasma and Urine Thymidine and 2'-Deoxyuridine by LC-MS/MS for the Pharmacodynamic Evaluation of Erythrocyte Encapsulated Thymidine Phosphorylase in Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy.

Published in:

Journal of Clinical Medicine, 2020, v. 9, n. 3, p. 788, doi. 10.3390/jcm9030788

By:

Kipper, Karin;
Hecht, Max;
Antunes, Natalicia J.;
Fairbanks, Lynette D.;
Levene, Michelle;
Kalkan Uçar, Sema;
Schaefer, Andrew;
Blakely, Emma L.;
Bax, Bridget E.

Publication type:

Article

Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial.

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 8, p. 1096, doi. 10.3390/jcm8081096

By:

Bax, Bridget E.;
Levene, Michelle;
Bain, Murray D.;
Fairbanks, Lynette D.;
Filosto, Massimiliano;
Kalkan Uçar, Sema;
Klopstock, Thomas;
Kornblum, Cornelia;
Mandel, Hanna;
Rahman, Shamima;
Roubertie, Agathe;
Scarpelli, Mauro;
Sedgwick, Philip M.;
Baru, Moshe;
Sellos-Moura, Marcia;
Price, Jeanie;
Horn, Patrick;
Nirmalananthan, Niranjanan

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

Variable phenotypes in a family with mitochondrial encephalomyopathy harboring a 3291T > C mutation in mitochondrial DNA.

Published in:

Neurological Sciences, 2011, v. 32, n. 5, p. 861, doi. 10.1007/s10072-011-0719-9

By:

Sunami, Yoko;
Sugaya, Keizo;
Chihara, Norio;
Goto, Yu-ichi;
Matsubara, Shiro

Publication type:

Article