Works matching DE "MITOCHONDRIAL encephalomyopathies"

Results: 111

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

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

Published in:

Annals of Clinical & Translational Neurology, 2015, v. 2, n. 5, p. 492, doi. 10.1002/acn3.189

By:

Haack, Tobias B.;
Jackson, Christopher B.;
Murayama, Kei;
Kremer, Laura S.;
Schaller, André;
Kotzaeridou, Urania;
Vries, Maaike C.;
Schottmann, Gudrun;
Santra, Saikat;
Büchner, Boriana;
Wieland, Thomas;
Graf, Elisabeth;
Freisinger, Peter;
Eggimann, Sandra;
Ohtake, Akira;
Okazaki, Yasushi;
Kohda, Masakazu;
Kishita, Yoshihito;
Tokuzawa, Yoshimi;
Sauer, Sascha

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

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

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

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

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

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

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

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

Sonification as a possible stroke rehabilitation strategy.

Published in:

Frontiers in Neuroscience, 2014, v. 8, p. 1, doi. 10.3389/fnins.2014.00332

By:

Scholz, Daniel S.;
Liming Wu;
Pirzer, Jonas;
Schneider, Johann;
Rollnik, Jens D.;
Großbach, Michael;
Altenmüller, Eckart O.

Publication type:

Article

Ressonância Magnética Convencional, Difusão e Espectroscopia Protónica na Síndrome de MELAS.

Published in:

Acta Médica Portuguesa, 2012, v. 25, n. Supp 1, p. 59

By:

CASIMIRO, Carlos;
MARTINS, Joana;
NUNES, César;
PARREIRA, Tiago;
Batista, Sónia;
CORDEIRO, Miguel;
MATIAS, Fernando;
REBELO, Olinda;
FREITAS, Pedro

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

Prolonged or recurrent acute seizures after pediatric arterial ischemic stroke are associated with increasing epilepsy risk.

Published in:

2017

By:

Fox, Christine K;
Mackay, Mark T;
Dowling, Michael M;
Pergami, Paola;
Titomanlio, Luigi;
Deveber, Gabrielle;
Kirton, Adam;
Abdalla, Abdalla;
Zafeiriou, Dimitrios;
Friedman, Neil;
Tatishvili, Nana;
Kolk, Anneli;
Armstrong‐Wells, Jennifer;
Ichord, Rebecca;
Amlie‐Lefond, Catherine;
Kovacevic, Gordana;
Chavez, Marta Hernandez;
Stojanovski, Belinda;
Guilliams, Kristin;
Elbers, Jorina

Publication type:

journal article

Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene.

Published in:

1994

By:

van den Ouweland, Johannes M. W.;
Lemkes, Herman H. P. J.;
Trembath, Richard C.;
Ross, Richard;
Velho, Gilberto;
Cohen, Daniel;
Froguel, Philippe;
Maassen, J. Antonie;
van den Ouweland, J M;
Lemkes, H H;
Trembath, R C;
Ross, R;
Velho, G;
Cohen, D;
Froguel, P;
Maassen, J A

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

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

Reply: assessing the effect of oral glutamine on the MELAS phenotype requires appropriate study designs.

Published in:

2024

By:

Guerrero-Molina, María Paz;
González de la Aleja, Jesús

Publication type:

Letter

Assessing the effect of oral glutamine on the MELAS phenotype requires appropriate study designs.

Published in:

2024

By:

Finsterer, Josef

Publication type:

Letter

Magnetic resonance spectroscopy in MELAS syndrome: correlation with CSF and plasma metabolite levels and change after glutamine supplementation.

Published in:

Neuroradiology, 2024, v. 66, n. 3, p. 389, doi. 10.1007/s00234-023-03263-1

By:

Guerrero-Molina, María Paz;
Bernabeu-Sanz, Ángela;
Ramos-González, Ana;
Morales-Conejo, Montserrat;
Delmiro, Aitor;
Domínguez-González, Cristina;
Arenas, Joaquín;
Martín, Miguel A.;
González de la Aleja, Jesús

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

Forecasting stroke-like episodes and outcomes in mitochondrial disease.

Published in:

2022

By:

Ng, Yi Shiau;
Lax, Nichola Z;
Blain, Alasdair P;
Erskine, Daniel;
Baker, Mark R;
Polvikoski, Tuomo;
Thomas, Rhys H;
Morris, Christopher M;
Lai, Ming;
Whittaker, Roger G;
Gebbels, Alasdair;
Winder, Amy;
Hall, Julie;
Feeney, Catherine;
Farrugia, Maria Elena;
Hirst, Claire;
Roberts, Mark;
Lawthom, Charlotte;
Chrysostomou, Alexia;
Murphy, Kevin

Publication type:

journal 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

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

Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects.

Published in:

Brain: A Journal of Neurology, 2012, v. 135, n. 12, p. 3627, doi. 10.1093/brain/aws223

By:

Tzoulis, Charalampos;
Bindoff, Laurence A.

Publication type:

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

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

Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions.

Published in:

BMC Neurology, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1471-2377-14-116

By:

La Morgia, Chiara;
Caporali, Leonardo;
Gandini, Francesca;
Olivieri, Anna;
Toni, Francesco;
Nassetti, Stefania;
Brunetto, Daniela;
Stipa, Carlotta;
Scaduto, Cristina;
Parmeggiani, Antonia;
Tonon, Caterina;
Lodi, Raffaele;
Torroni, Antonio;
Carelli, Valerio

Publication type:

Article

Mutations in coenzyme Q10 biosynthetic genes.

Published in:

2007

By:

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

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

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

Diagnostic Criteria For Pediatric Mitochondrial Disorders.

Published in:: Iranian Journal of Child Neurology, 2013, v. 7, n. 4, p. 8
Publication type:: 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

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

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