Works matching DE "MELAS syndrome"

Results: 619

Treating hypercholesterinemia in a patient with maternally inherited diabetes and deafness (MIDD) by the proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitor alirocumab.

Published in:

Acta Diabetologica, 2021, v. 58, n. 11, p. 1575, doi. 10.1007/s00592-021-01776-w

By:

Schultes, Bernd;
Ernst, Barbara;
Schmid, Sebastian M.

Publication type:

Article

Therapeutic options in a patient with MELAS and diabetes mellitus: follow-up after 6 months of treatment.

Published in:

Acta Diabetologica, 2019, v. 56, n. 11, p. 1231, doi. 10.1007/s00592-019-01302-z

By:

Cosentino, C.;
Contento, M.;
Paganini, M.;
Mannucci, E.;
Cresci, B.

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

Adult-onset MELAS syndrome in a 51-year-old woman without typical clinical manifestations: a case report.

Published in:

European Heart Journal Case Reports, 2023, v. 7, n. 1, p. 1, doi. 10.1093/ehjcr/ytad028

By:

Lee, Sang-Hyup;
Lee, Chan Joo;
Won, Dongju;
Kang, Seok-Min

Publication type:

Article

H - 17 Neuropsychological Assessment in Rare Pediatric Neurogenetic Disorders: Considerations for Clinical Research.

Published in:

Archives of Clinical Neuropsychology, 2023, v. 38, n. 7, p. 1499, doi. 10.1093/arclin/acad067.335

By:

Dorsman, Karen A;
MacDonald, Beatriz;
Messahel, Souad;
Horton, Daniel;
Edgar, Veronica Bordes

Publication type:

Article

A - 190 Neuropsychological Profile of an Adolescent with Primary Mitochondrial Disorder.

Published in:

Archives of Clinical Neuropsychology, 2023, v. 38, n. 7, p. 1364, doi. 10.1093/arclin/acad067.207

By:

Meier, Lauren M;
Holder, Christen M

Publication type:

Article

A-266 Neuropsychological Profile of a 5-Year-Old Boy with Gould Syndrome.

Published in:

2022

By:

Cap, Caitlyn J;
Manning, Madeline;
Ball, Kayleen

Publication type:

Case Study

A-143 Understanding the Heterogeneous Effects of MELAS: A Comparative Study of Juvenile Sisters.

Published in:

2022

By:

Harness, James E;
Reis, Jacqueline P;
Ismail, Hajar A;
Herby, Cecily A;
Hall, Asia A;
Rossing, John C;
Obolsky, Maximillian A;
Bylsma, Frederick W

Publication type:

Abstract

A-256 A Unique Bilingual Phenotype in the Context of Late Onset MELAS.

Published in:: 2020
Publication type:: Abstract

B-20 Neuropsychological Profile in an Individual with Mitochondrial Encephalopathy, Lactic acidosis, and Stroke-like episodes (MELAS): A Case Study.

Published in:

Archives of Clinical Neuropsychology, 2019, v. 34, n. 6, p. 965, doi. 10.1093/arclin/acz034.103

By:

Figueroa, P;
Barbeito, C;
Ireland, S

Publication type:

Article

Recent Advances in Sickle-Cell Disease Therapies: A Review of Voxelotor, Crizanlizumab, and L-glutamine.

Published in:

Pharmacy, 2022, v. 10, n. 5, p. N.PAG, doi. 10.3390/pharmacy10050123

By:

Migotsky, Michael;
Beestrum, Molly;
Badawy, Sherif M.

Publication type:

Article

Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literature.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 7, p. 1, doi. 10.1002/mgg3.1955

By:

Seed, Lydia M.;
Dean, Andrew;
Krishnakumar, Deepa;
Phyu, Poe;
Horvath, Rita;
Harijan, Pooja Devi

Publication type:

Article

Valproate Is Contraindicated in POLG1 Mutations.

Published in:

Pediatric Gastroenterology, Hepatology & Nutrition, 2019, v. 22, n. 1, p. 105, doi. 10.5223/pghn.2019.22.1.105

By:

Finsterer, Josef

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

Identification of two novel variants of BCS1L gene in a patient with classical GRACILE syndrome.

Published in:

Nephrology, 2022, v. 27, n. 10, p. 810, doi. 10.1111/nep.14086

By:

Guo, Wencong;
Shao, Yingfei;
Lang, Yanhua;
Wang, Hong;
Lin, Yi;
Liu, Xuyan;
Zhang, Ruixiao;
Shao, Leping

Publication type:

Article

Neural Correlates of Motor Recovery Measured by SPECT at Six Months After Basal Ganglia Stroke.

Published in:

Annals of Rehabilitation Medicine, 2017, v. 41, n. 6, p. 905, doi. 10.5535/arm.2017.41.6.905

By:

Ji Won Choi;
Myoung Hyoun Kim;
Soon-Ah Park;
Deok Su Sin;
Min-Su Kim

Publication type:

Article

Dexmedetomidine as a non-triggering anesthetic agent in a patient with MELAS syndrome and systemic sepsis - A case report.

Published in:

2019

By:

Sang Hun Kim;
Su Yeong Park;
Ki Tae Jung

Publication type:

Case Study

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

Upper Limb Kinematics in Stroke and Healthy Controls Using Targetto- Target Task in Virtual Reality.

Published in:

Frontiers in Neurology, 2018, p. 1, doi. 10.3389/fneur.2018.00300

By:

Hussain, Netha;
Alt Murphy, Margit;
Sunnerhagen, Katharina S.

Publication type:

Article

Covariates of non-dipping and elevated night-time blood pressure in ischemic stroke patients: the Norwegian Stroke in the Young Study*.

Published in:

Blood Pressure, 2016, v. 25, n. 4, p. 212, doi. 10.3109/08037051.2015.1127559

By:

Saeed, Sahrai;
Waje-Andreassen, Ulrike;
Lønnebakken, MT;
Fromm, Annette;
Øygarden, Halvor;
Naess, Halvor;
Gerdts, Eva

Publication type:

Article

BEHAVIORAL CHARACTERISTICS OF CHILDREN WITH SICKLE CELL DISEASE.

Published in:

Revista Paulista de Pediatria, 2021, v. 39, p. 1, doi. 10.1590/1984-0462/2021/39/2019341

By:

Bondança Pereira, Fellipe;
César Pedroso, Glaura;
Miranda Resegue, Rosa;
Vieira Ribeiro, Marcos Vinicius;
Hokazono, Mary;
Pellegrini Braga, Josefina Aparecida

Publication type:

Article

Leigh syndrome: a case report with a mitochondrial DNA mutation.

Published in:

Revista Paulista de Pediatria, 2019, v. 37, n. 1, p. 136

By:

Bandeira, Anabela Oliveira

Publication type:

Article

LEIGH SYNDROME: A CASE REPORT WITH A MITOCHONDRIAL DNA MUTATION.

Published in:

Revista Paulista de Pediatria, 2018, v. 36, n. 4, p. 519, doi. 10.1590/1984-0462/;2018;36;4;00003

By:

Lopes, Tânia;
Coelho, Margarida;
Bordalo, Diana;
Bandeira, António;
Bandeira, Anabela;
Vilarinho, Laura;
Fonseca, Paula;
Carvalho, Sónia;
Martins, Cecília;
Oliveira, José Gonçalves

Publication type:

Article

Stroke subtype, age, and baseline NIHSS score predict ischemic stroke outcomes at 3 months: a preliminary study from Central Nepal.

Published in:

Journal of Multidisciplinary Healthcare, 2015, v. 8, p. 443, doi. 10.2147/JMDH.S90554

By:

Shrestha, Shakti;
Ramesh Sharma Poudel;
Khatiwada, Dipendra;
Thapa, Lekhjung

Publication type:

Article

Predictors of early infection in cerebral ischemic stroke.

Published in:

Journal of Medicine & Life, 2016, v. 9, n. 2, p. 163

By:

Ashour, W. M. R.;
Al-Anwar, A. D.;
Kamel, A. E.;
Aidaros, M. A.

Publication type:

Article

Neuraxial anesthesia for extended endoscopic urological procedure in a patient with MELAS syndrome: a case report.

Published in:

Anaesthesia, Pain & Intensive Care, 2022, v. 26, n. 3, p. 419, doi. 10.35975/apic.v26i3.1754

By:

Ababneh, Muaweih;
Al-Shehab, Refaat;
Suleiman, Aiman

Publication type:

Article

Patients with MELAS not only require treatment of stroke‐like episodes but a comprehensive individual and family management.

Published in:

2019

By:

Finsterer, Josef

Publication type:

Letter to the Editor

MELAS: Monitoring treatment with magnetic resonance spectroscopy.

Published in:

Acta Neurologica Scandinavica, 2019, v. 139, n. 1, p. 82, doi. 10.1111/ane.13027

By:

Hovsepian, Dominic A.;
Galati, Alexandra;
Chong, Robert A.;
Mazumder, Rajarshi;
DeGiorgio, Christopher M.;
Mishra, Shri;
Yim, Catherine

Publication type:

Article

Outcome of men and women after atrial fibrillation and stroke.

Published in:

Acta Neurologica Scandinavica, 2015, v. 132, n. 2, p. 125, doi. 10.1111/ane.12366

By:

Jönsson, A.‐C.;
Ek, J.;
Kremer, C.

Publication type:

Article

Adult-onset mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): A case report and review of its conventional and diffusionweighted MRI features.

Published in:

Neurology Asia, 2024, v. 29, n. 2, p. 465, doi. 10.54029/2024dru

By:

Pui-Hung Ho;
Li, Richard;
Chi-Yeung Chu;
Yip-Kan Tang, Kendrick;
Chun-Kit Li;
Man-Kwan Yip;
Wing-Tat Poon;
Wing-Ho Cheng, Stephen;
Auyeung, M.;
Cheung, C. M.

Publication type:

Article

Mitochondrial DNA 3252A>G mutation presenting as MERRF/MELAS overlapping syndrome: A case report.

Published in:

Neurology Asia, 2023, v. 28, n. 4, p. 1073, doi. 10.54029/2023tzs

By:

Yin Yin Tan;
Ting Yoong Tee;
Farn Ye Chew;
Huey Tean Kok;
Abd Rani, Nor Haizura binti;
Lock Hock Ngu;
Viswanathan, Shanthi

Publication type:

Article

An ultra-rare cause of severe hypotonia mimicking Pompe disease in an infant: RRM2B related mitochondrial DNA depletion syndrome with a novel mutation.

Published in:

Neurology Asia, 2022, v. 27, n. 1, p. 199, doi. 10.54029/2022zpv

By:

İnci, Aslı;
Okur, İlyas;
Demir, Ercan;
Biberoğlu, Gürsel;
Tümer, Leyla;
Serdaroğlu, Ayşe;
Ezgü, Fatih Süheyl

Publication type:

Article

DGUOK 相关线粒体DNA 耗竭综合征 1 例报道及文献复习.

Published in:

Chinese Journal of Contemporary Pediatrics, 2020, v. 22, n. 3, p. 274, doi. 10.7499/j.issn.1008-8830.2020.03.017

By:

林桂枝;
邱建武;
邓梅;
林伟霞;
郭丽;
宋元宗

Publication type:

Article

Fentanyl can be mitochondrion -toxic depending on dosage and cell type.

Published in:

Journal of Anaesthesiology Clinical Pharmacology, 2019, v. 35, n. 4, p. 570, doi. 10.4103/joacp.JOACP_262_18

By:

Finsterer, Josef;
Zarrouk-Mahjoub, Sinda

Publication type:

Article

The National Institute of Neurological Disorders and Stroke (NINDS) Epilepsy Therapy Screening Program (ETSP).

Published in:

Neurochemical Research, 2017, v. 42, n. 7, p. 1894, doi. 10.1007/s11064-017-2275-z

By:

Kehne, John;
Klein, Brian;
Raeissi, Shamsi;
Sharma, Shalini

Publication type:

Article

Perfusion and Electrophysiological Changes in MELAS.

Published in:

Annals of Neurology, 2025, v. 97, n. 5, p. 956, doi. 10.1002/ana.27176

By:

Alten, Baris;
Chu, Catherine J.;
Rost, Natalia S.;
Walker, Melissa A.

Publication type:

Article

148th Annual Meeting American Neurological Association.

Published in:: Annals of Neurology, 2023, v. 94, n. 30, p. S1, doi. 10.1002/ana.26747
Publication type:: Article

"Disappearing Infarct" Is Late‐Onset MELAS.

Published in:

Annals of Neurology, 2021, v. 90, n. 6, p. 1001, doi. 10.1002/ana.26236

By:

Landis, Timothy M.;
Hannah, William B.;
Powers, William J.

Publication type:

Article

Reply to "Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations".

Published in:

Annals of Neurology, 2021, v. 89, n. 3, p. 631, doi. 10.1002/ana.25999

By:

Alves, Cesar Augusto Pinheiro Ferreira;
Teixeira, Sara Reis;
Martin‐Saavedra, Juan Sebastian;
Guimarães Gonçalves, Fabrício;
Lo Russo, Francesco;
Muraresku, Colleen;
McCormick, Elizabeth M.;
Zolkipli‐Cunningham, Zarazuela;
Ganetzky, Rebecca;
Falk, Marni J.;
Vossough, Arastoo;
Goldstein, Amy;
Zuccoli, Giulio

Publication type:

Article

144th Annual Meeting American Neurological Association.

Published in:: 2019
Publication type:: journal article

Musical hallucinations with a right frontotemporal stroke.

Published in:

2020

By:

Buchwald, Natalie;
Kelly, Adam;
Heilman, Kenneth M.;
Simpkins, Alexis N.

Publication type:

Report

About the Artist: Kathy McNamara.

Published in:: Diabetes Care, 2023, v. 46, n. 10, p. 1725, doi. 10.2337/dci23-0054
Publication type:: Article

Headache, cataract, and unilateral visual loss: unusual features of DARS2 variants in LBSL.

Published in:

Turkish Journal of Pediatrics, 2021, v. 63, n. 1, p. 181, doi. 10.24953/turkjped.2021.01.023

By:

Finsterer, Josef

Publication type:

Article

Are homozygous SLC19A3 deletions non-responsive to thiamine/biotin?

Published in:

Turkish Journal of Pediatrics, 2020, v. 62, n. 5, p. 893, doi. 10.24953/turkjped.2020.05.027

By:

Finsterer, Josef

Publication type:

Article

Response to "Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis".

Published in:

Turkish Journal of Pediatrics, 2020, v. 62, n. 5, p. 894, doi. 10.24953/turkjped.2020.05.027

By:

Değerliyurt, Aydan;
Ceylaner, Serdar

Publication type:

Article

Different clinical presentation in a patient with two novel pathogenic variants of the FBXL4 gene.

Published in:

Turkish Journal of Pediatrics, 2020, v. 62, n. 4, p. 652, doi. 10.24953/turkjped.2020.04.016

By:

Köse, Engin;
Köse, Melis;
Edizer, Selvinaz;
Akışın, Zeynep;
Yılmaz, Zehra Burcu;
Şahin, Ahmet;
Genel, Ferah

Publication type:

Article

Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis.

Published in:

Turkish Journal of Pediatrics, 2019, v. 61, n. 2, p. 261, doi. 10.24953/turkjped.2019.02.016

By:

Değerliyurt, Aydan;
Gündüz, Mehmet;
Ceylaner, Serdar;
Ünal, Özlem;
Ünal, Sevim

Publication type:

Article

Rare Gene Mutations in Romanian Hypoacusis Patients: Case Series and a Review of the Literature.

Published in:

2022

By:

Neagu, Alexandra-Cristina;
Budișteanu, Magdalena;
Gheorghe, Dan-Cristian;
Mocanu, Adela-Ioana;
Mocanu, Horia

Publication type:

Literature Review