Works matching DE "MELAS syndrome"

Results: 619

"Strokes" in MELAS are Actually Stroke-like Episodes Due To Metabolic Pathophysiology.

Published in:

2024

By:

Finsterer, Josef

Publication type:

Letter

MELAS Syndrome: Rare Early Presentation of a Known Stroke Mimic.

Published in:

Neurology India, 2024, v. 72, n. 3, p. 645, doi. 10.4103/neurol-india.Neurol-India-D-24-00065

By:

Mahesan, Aakash;
Kamila, Gautam;
Sundaram, Mohana;
Kumar, Atin;
Jauhari, Prashant;
Chakrabarty, Biswaroop;
Gulati, Sheffali

Publication type:

Article

Infraclavicular Catheter in MELAS Syndrome for Analgesic Purposes.

Published in:

Neurology India, 2023, v. 71, n. 4, p. 764, doi. 10.4103/0028-3886.383869

By:

Onay, M.;
Kiremitçi, T. Tanyel;
Kayhan, G. Erdoğan;
Algın, D. İlhan;
Güleç, M. S.

Publication type:

Article

A Takayasu tale that tells it all: Diagnostic and therapeutic discussions on an interesting case.

Published in:

2019

By:

Sureshbabu, Sachin;
Khan, Amit;
Babu, Raghunath;
Mittal, Gaurav;
Peter, Sudhir;
Sobhana, C;
Garg, Amit;
Khanna, Laxmi;
Khan, Amit A

Publication type:

Case Study

DNA polymorphisms detected in MT-ATP6 and MT-ATP8 genes in the residents of Sarajevo Canton.

Published in:

Genetics & Applications, 2024, v. 8, n. 1, p. 1, doi. 10.31383/ga.vol8iss1ga07

By:

Handžić, Nejira;
Pećar, Dino;
Durgut, Selma;
Mulahuseinović, Naida;
Čeko, Ivana;
Izmirlija, Mirza;
Ašić, Adna;
Salihefendić, Lana;
Konjhodžić, Rijad

Publication type:

Article

Case report: severe hypertrophic cardiomyopathy in a female neonate caused by de novo variant in NDUFB11.

Published in:

European Heart Journal Case Reports, 2024, v. 8, n. 8, p. 1, doi. 10.1093/ehjcr/ytae377

By:

Tariq, Javeria;
Townsend, Madeleine;
Parikh, Sumit;
Bennett, Jeffrey

Publication type:

Article

Bilateral deafness, diabetes, and different types of cardiomyopathy in family members with m.3243A > g mutation: a case report.

Published in:

European Heart Journal Case Reports, 2023, v. 7, n. 2, p. 1, doi. 10.1093/ehjcr/ytad073

By:

Seiler, Florian;
Ruile, Philipp;
Moser, Martin;
Helbing, Thomas

Publication type:

Article

ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency.

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 9, p. 1374, doi. 10.3390/jcm8091374

By:

Vázquez-Fonseca, Luis;
Schäefer, Jochen;
Navas-Enamorado, Ignacio;
Santos-Ocaña, Carlos;
Hernández-Camacho, Juan D.;
Guerra, Ignacio;
Cascajo, María V.;
Sánchez-Cuesta, Ana;
Horvath, Zoltan;
Siendones, Emilio;
Jou, Cristina;
Casado, Mercedes;
Gutierrez-Rios, Purificación;
Brea-Calvo, Gloria;
López-Lluch, Guillermo;
Fernández-Ayala, Daniel J.M.;
Cortés, Ana B.;
Rodríguez-Aguilera, Juan C.;
Matté, Cristiane;
Ribes, Antonia

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

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 Disease (MELAS Syndrome) Discovered at the Start of Pregnancy in a Patient with Advanced CKD: A Clinical and Ethical Challenge.

Published in:

Journal of Clinical Medicine, 2019, p. 303, doi. 10.3390/jcm8030303

By:

Santoro, Domenico;
Di Bella, Gianluca;
Toscano, Antonio;
Musumeci, Olimpia;
Buemi, Michele;
Piccoli, Giorgina Barbara

Publication type:

Article

Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE-MTDPS1).

Published in:

Journal of Clinical Medicine, 2018, v. 7, n. 11, p. 389, doi. 10.3390/jcm7110389

By:

Filosto, Massimiliano;
Cotti Piccinelli, Stefano;
Caria, Filomena;
Gallo Cassarino, Serena;
Baldelli, Enrico;
Galvagni, Anna;
Volonghi, Irene;
Scarpelli, Mauro;
Padovani, Alessandro

Publication type:

Article

The ATP-sensitive K channel is seizure protective and required for effective dietary therapy in a model of mitochondrial encephalomyopathy.

Published in:

Journal of Neurogenetics, 2016, v. 30, n. 3/4, p. 247, doi. 10.1080/01677063.2016.1252765

By:

Fogle, Keri J.;
Hertzler, J. Ian;
Shon, Joy H.;
Palladino, Michael J.

Publication type:

Article

Stylocarotid artery syndrome in a patient presenting with recurrent stroke.

Published in:

ANZ Journal of Surgery, 2023, v. 93, n. 7, p. 2024, doi. 10.1111/ans.18468

By:

Flame, Aki Constantine;
Parker, Geoffrey;
Halmagyi, Gabor Michael;
Elliott, Michael

Publication type:

Article

Per‐rectal passage of intestinal cast: an unusual complication of pseudomembranous enterocolitis in an immunocompromised patient and literature review.

Published in:

ANZ Journal of Surgery, 2020, v. 90, n. 12, p. 2574, doi. 10.1111/ans.15943

By:

Tan, Edmund Wooi Keat;
Monteiro, Amelia Yuting;
Ur Rehman, Mutee;
Kabir, Tousif

Publication type:

Article

Abstract Journal General Surgery.

Published in:: 2019
Publication type:: Abstract

Expanding the spectrum of neonatal‐onset AIFM1‐associated disorders.

Published in:

Annals of Clinical & Translational Neurology, 2023, v. 10, n. 10, p. 1844, doi. 10.1002/acn3.51876

By:

Zambon, Alberto A.;
Ghezzi, Daniele;
Baldoli, Cristina;
Cutillo, Gianni;
Fontana, Katia;
Sofia, Valentina;
Patricelli, Maria Grazia;
Nasca, Alessia;
Vinci, Stefano;
Spiga, Ivana;
Lamantea, Eleonora;
Fanelli, Giovanna F.;
Sora, Maria Grazia Natali;
Rovelli, Rosanna;
Poloniato, Antonella;
Carrera, Paola;
Filippi, Massimo;
Barera, Graziano

Publication type:

Article

Neurological diagnoses in hospitalized COVID‐19 patients during the B.1.1.529 surge.

Published in:

Annals of Clinical & Translational Neurology, 2023, v. 10, n. 8, p. 1433, doi. 10.1002/acn3.51833

By:

Kim, Carla Y.;
Sardar, Zomer;
Ayele, Biniyam A.;
Fleck‐Derderian, Shannon;
Barrett, Catherine E.;
Sun, Yifei;
Clague, Madison;
Hurst, Holly A.;
Boruah, Abhilasha;
Zucker, Jason;
Maddox, Ryan;
Sejvar, James;
Thakur, Kiran T.

Publication type:

Article

A different pattern of clinical, muscle pathology and brain MRI findings in MELAS with mt‐ND variants.

Published in:

Annals of Clinical & Translational Neurology, 2023, v. 10, n. 6, p. 1035, doi. 10.1002/acn3.51787

By:

Wang, Wei;
Zhao, Yuying;
Xu, Xuebi;
Ma, Xiaotian;
Sun, Yuan;
Lin, Yan;
Zhao, Ying;
Xu, Zhihong;
Wang, Jiayin;
Ren, Hong;
Wang, Bin;
Zhao, Dandan;
Wang, Dongdong;
Liu, Fuchen;
Li, Wei;
Yan, Chuanzhu;
Ji, Kunqian

Publication type:

Article

Early‐onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid‐forties patient.

Published in:

2022

By:

Gschwind, Markus;
Garcia Segarra, Nuria;
Schaller, André;
Bolognini, Ramona;
Nuoffer, Jean‐Marc;
Hourez, Raphael;
Deprez, Manuel;
Lhermitte, Benoit;
Maeder, Philippe;
Tran, Christel;
Kuntzer, Thierry

Publication type:

Case Study

Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS‐associated mtDNA mutations.

Published in:

Annals of Clinical & Translational Neurology, 2021, v. 8, n. 6, p. 1200, doi. 10.1002/acn3.51329

By:

Gramegna, Laura L.;
Evangelisti, Stefania;
Di Vito, Lidia;
La Morgia, Chiara;
Maresca, Alessandra;
Caporali, Leonardo;
Amore, Giulia;
Talozzi, Lia;
Bianchini, Claudio;
Testa, Claudia;
Manners, David N.;
Cortesi, Irene;
Valentino, Maria L.;
Liguori, Rocco;
Carelli, Valerio;
Tonon, Caterina;
Lodi, Raffaele

Publication type:

Article

SUCLA2 Arg407Trp mutation can cause a nonprogressive movement disorder – deafness syndrome.

Published in:

Annals of Clinical & Translational Neurology, 2021, v. 8, n. 1, p. 252, doi. 10.1002/acn3.51247

By:

Alkhater, Reem A.;
Ahonen, Saija;
Minassian, Berge A.

Publication type:

Article

Exploring mTOR inhibition as treatment for mitochondrial disease.

Published in:

Annals of Clinical & Translational Neurology, 2019, v. 6, n. 9, p. 1877, doi. 10.1002/acn3.50846

By:

Sage‐Schwaede, Abigail;
Engelstad, Kristin;
Salazar, Rachel;
Curcio, Angela;
Khandji, Alexander;
Garvin Jr, James H.;
De Vivo, Darryl C.

Publication type:

Article

Recurrent kidney stones in a family with a mitochondrial disorder due to the m.3243A>G mutation.

Published in:

2019

By:

Bargagli, M.;
Primiano, G.;
Primiano, A.;
Gervasoni, J.;
Naticchia, A.;
Servidei, S.;
Gambaro, G.;
Ferraro, P. M.

Publication type:

Letter

Traumatic Brain Injury Triggers Neurodegeneration in a Mildly Symptomatic MELAS Patient: Implications on the Detrimental Role of Damaged Mitochondria in Determining Head Trauma Sequalae in the General Population.

Published in:

2023

By:

Zanotti, Simona;
Velardo, Daniele;
Sciacco, Monica

Publication type:

Case Study

The Mitochondrial tRNA Ser(UCN) Gene: A Novel m.7484A>G Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review.

Published in:

Life (2075-1729), 2023, v. 13, n. 2, p. 554, doi. 10.3390/life13020554

By:

Borgione, Eugenia;
Lo Giudice, Mariangela;
Santa Paola, Sandro;
Giuliano, Marika;
Di Blasi, Francesco Domenico;
Di Stefano, Vincenzo;
Lupica, Antonino;
Brighina, Filippo;
Pettinato, Rosa;
Romano, Corrado;
Scuderi, Carmela

Publication type:

Article

Commentary: New Variant of MELAS Syndrome With Executive Dysfunction, Heteroplasmic Point Mutation in the MT-ND4 Gene (m.12015T>C; p.Leu419Pro) and Comorbid Polyglandular Autoimmune Syndrome Type 2.

Published in:

Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.01333

By:

Finsterer, Josef

Publication type:

Article

New Variant of MELAS Syndrome With Executive Dysfunction, Heteroplasmic Point Mutation in the MT-ND4 Gene (m.12015T>C; p.Leu419Pro) and Comorbid Polyglandular Autoimmune Syndrome Type 2.

Published in:

Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.00412

By:

Endres, Dominique;
Süß, Patrick;
Maier, Simon J.;
Friedel, Evelyn;
Nickel, Kathrin;
Ziegler, Christiane;
Fiebich, Bernd L.;
Glocker, Franz X.;
Stock, Friedrich;
Egger, Karl;
Lange, Thomas;
Dacko, Michael;
Venhoff, Nils;
Erny, Daniel;
Doostkam, Soroush;
Komlosi, Katalin;
Domschke, Katharina;
Tebartz van Elst, Ludger

Publication type:

Article

Five non-mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes phenotype adult patients with m.3243A>G mutation after kidney transplantation: follow-up and review of the literature.

Published in:

Clinical Kidney Journal, 2019, v. 12, n. 6, p. 840, doi. 10.1093/ckj/sfz020

By:

Laat, Paul de;
Engelen, Nienke van;
Wetzels, Jack F;
Smeitink, Jan A M;
Janssen, Mirian C H

Publication type:

Article

Correction to: Prevalence and risk factors of lactic acidosis in children with acute moderate and severe asthma, a prospective observational study.

Published in:

2021

By:

Ruman-Colombier, Marta;
Guignard, Isabelle Rochat;
Di Paolo, Ermindo R.;
Gehri, Mario;
Pauchard, Jean-Yves

Publication type:

Correction Notice

Novel SLC25A4 variant causes mitochondrial depletion rather than Kearns-Sayre syndrome.

Published in:

Neurosciences, 2022, v. 27, n. 3, p. 197, doi. 10.17712/nsj.2022.3.20220059

By:

Finsterer, Josef

Publication type:

Article

A consensus statement on spinal muscular atrophy management in Saudi Arabia in the context of COVID-19.

Published in:

Neurosciences, 2020, v. 25, n. 3, p. 230, doi. 10.17712/nsj.2020.3.20200083

By:

Alghamdi, Fouad;
Alshaikh, Nahla;
Bamaga, Ahmed K.;
Bashiri, Fahad A.;
Hundullah, Khalid;
Alshehri, Ali;
Al-Muhaizea, Mohammad A.;
Al-Saman, Abdulaziz

Publication type:

Article

Methylmalonic aciduria as a biochemical marker for mitochondrial DNA depletion syndrome in patients with developmental delay and movement disorders: a case series.

Published in:

Frontiers in Neurology, 2023, p. 01, doi. 10.3389/fneur.2023.1265115

By:

Almudhry, Montaha;
Saini, Arushi Gahlot;
Al-Omari, Mohammed A.;
Sharma, Yashu;
Nouri, Maryam Nabavi;
Rupar, C. Anthony;
Prasad, Chitra;
Yu, Andrea C.;
Attri, Savita Verma;
Prasad, Asuri Narayan

Publication type:

Article

A patient with MELAS syndrome combined with autoimmune abnormalities: a case report.

Published in:

Frontiers in Neurology, 2023, p. 01, doi. 10.3389/fneur.2023.1239664

By:

Mingmin Zhao;
Chun Zuo;
Hongyu Hao;
Xing Xing;
Lei Zhao;
Na Li

Publication type:

Article

SIRT3 regulates mitochondrial biogenesis in aging-related diseases.

Published in:

Journal of Biomedical Research, 2023, v. 37, n. 2, p. 77, doi. 10.7555/JBR.36.20220078

By:

Hongyan Li;
Zhiyou Cai

Publication type:

Article

Hippocampal ischemia causes deficits in local field potential and synaptic plasticity.

Published in:

Journal of Biomedical Research, 2015, v. 29, n. 5, p. 370, doi. 10.7555/JBR.29.20150010

By:

Shaoli Wang;
Jingyun Zhang;
Tao Sheng;
Wei Lu;
Dengshun Miao

Publication type:

Article

Incidence of cardiometabolic outcomes among people living with HIV‐1 initiated on integrase strand transfer inhibitor versus non‐integrase strand transfer inhibitor antiretroviral therapies: a retrospective analysis of insurance claims in the United States

Published in:

Journal of the International AIDS Society, 2023, v. 26, n. 6, p. 1, doi. 10.1002/jia2.26123

By:

Rebeiro, Peter F.;
Emond, Bruno;
Rossi, Carmine;
Bookhart, Brahim K.;
Shah, Aditi;
Caron‐Lapointe, Gabrielle;
Lafeuille, Marie‐Hélène;
Donga, Prina

Publication type:

Article

A patient with metformin-associated lactic acidosis successfully treated with continuous renal replacement therapy: a case report.

Published in:

2019

By:

Kinoshita, Hiroki;
Yanai, Machi;
Ariyoshi, Koichi;
Ando, Motozumi;
Tamura, Ryo

Publication type:

journal article

Dynamic derangement in amino acid profile during and after a stroke-like episode in adult-onset mitochondrial disease: a case report.

Published in:

2019

By:

Fukuda, Mai;
Nagao, Yoshiro

Publication type:

journal article

Left and right ventricular function by echocardiography, tissue Doppler imaging, carotid intima-media thickness, and asymmetric dimethyl arginine levels in obese adolescents with metabolic syndrome.

Published in:

2019

By:

Aslan, Eyup;
Sert, Ahmet;
Buyukinan, Muammer;
Pirgon, Mustafa Ozgur;
Kurku, Huseyin;
Yilmaz, Hakan;
Odabas, Dursun

Publication type:

journal article

Occlusion Location of Middle Cerebral Artery Stroke and Outcome after Endovascular Treatment.

Published in:

European Neurology, 2016, v. 74, n. 5/6, p. 315, doi. 10.1159/000441445

By:

arnold, Marcel;
Slezak, agnieszka;
El-Koussy, Marwan;
Lüdi, Rudolf;
Findling, Oliver;
Mono, Marie-Luise;
Heldner, Mirjam Rachel;
Fischer, Urs;
Mordasini, Pasquale;
Schroth, Gerhard;
Mattle, Heinrich P.;
Gralla, Jan;
Jung, Simon

Publication type:

Article

Impact of Intracranial Atherosclerotic Stenosis on the Prognosis in Acute Ischemic Stroke Patients with Cardioembolic Source.

Published in:

European Neurology, 2015, v. 73, n. 5/6, p. 271, doi. 10.1159/000381336

By:

Lee, Seung-Jae;
Lee, Dong-Geun;
Lim, Dal-Soo;
Hong, Sukkeun

Publication type:

Article

Diffusion-Perfusion Mismatch in Single Subcortical Infarction: A Predictor of Early Neurological Deterioration and Poor Functional Outcome.

Published in:

European Neurology, 2015, v. 73, n. 5/6, p. 353, doi. 10.1159/000430461

By:

Kim, Jun Pyo;
Kim, Suk Jae;
Lee, Jung Jae;
Cha, Ji Hoon;
Bang, Oh Young;
Chung, Chin-Sang;
Lee, Kwang Ho;
Kim, Gyeong-Moon

Publication type:

Article

Timing of Neurological Improvement after Acute Ischemic Stroke and Functional Outcome.

Published in:

European Neurology, 2015, v. 73, n. 3/4, p. 164, doi. 10.1159/000370240

By:

Song, Young-Mok;
Lee, Geun Ho;
Kim, Jae Il

Publication type:

Article

Post-Stroke Fatigue: Epidemiology, Clinical Characteristics and Treatment.

Published in:

European Neurology, 2014, v. 72, n. 5/6, p. 255, doi. 10.1159/000363763

By:

acciarresi, Monica;
Bogousslavsky, Julien;
Paciaroni, Maurizio

Publication type:

Article

Barriers and Facilitators for Medication Adherence in Stroke Patients: A Qualitative Study Conducted in French Neurological Rehabilitation Units.

Published in:

European Neurology, 2014, v. 72, n. 5/6, p. 262, doi. 10.1159/000362718

By:

Bauler, Stephanie;
Jacquin-Courtois, Sophie;
Haesebaert, Julie;
Luaute, Jacques;
Coudeyre, Emmanuel;
Feutrier, Corinne;
allenet, Benoit;
Decullier, Evelyne;
Rode, Gilles;
Janoly-Dumenil, audrey

Publication type:

Article

Local Muscle Injection of Botulinum Toxin Type A Synergistically Improves the Beneficial Effects of Repetitive Transcranial Magnetic Stimulation and Intensive Occupational Therapy in Post-Stroke Patients with Spastic Upper Limb Hemiparesis.

Published in:

European Neurology, 2014, v. 72, n. 5/6, p. 290, doi. 10.1159/000365005

By:

Yamada, Naoki;
Kakuda, Wataru;
Kondo, Takahiro;
Mitani, Sugao;
Shimizu, Masato;
abo, Masahiro

Publication type:

Article

Neurocysticercosis is a Neglected Microbleed Mimic. A Cautionary Note for Stroke Neurologists.

Published in:

European Neurology, 2014, v. 72, n. 5/6, p. 306, doi. 10.1159/000365847

By:

Del Brutto, Oscar H.;
Lama, Julio;
Zambrano, Mauricio;
Del Brutto, Victor J.

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