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Year Number of Results
1994 1
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2008 2
2015 2
2016 1
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2020 1
2022 1
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22 results

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Page 1
MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.
El-Hattab AW, Adesina AM, Jones J, Scaglia F. El-Hattab AW, et al. Mol Genet Metab. 2015 Sep-Oct;116(1-2):4-12. doi: 10.1016/j.ymgme.2015.06.004. Epub 2015 Jun 15. Mol Genet Metab. 2015. PMID: 26095523 Review.
Management is largely symptomatic and should involve a multidisciplinary team. Unblinded studies showed that l-arginine therapy improves stroke-like episode symptoms and decreases the frequency and severity of these episodes. ...
Management is largely symptomatic and should involve a multidisciplinary team. Unblinded studies showed that l-arginine therapy improves …
Headache in mitochondrial disorders.
Finsterer J, Zarrouk-Mahjoub S. Finsterer J, et al. Clin Neurol Neurosurg. 2018 Mar;166:44-49. doi: 10.1016/j.clineuro.2018.01.020. Clin Neurol Neurosurg. 2018. PMID: 29408771 Review.
Migraine or MLH may manifest with or without aura. MLH is frequently associated with an ongoing or previous stroke-like episode (SLE) or a seizure but may also occur independently of other neurological features. ...
Migraine or MLH may manifest with or without aura. MLH is frequently associated with an ongoing or previous stroke-like epi
Mitochondrial metabolic stroke: Phenotype and genetics of stroke-like episodes.
Finsterer J. Finsterer J. J Neurol Sci. 2019 May 15;400:135-141. doi: 10.1016/j.jns.2019.03.021. Epub 2019 Mar 23. J Neurol Sci. 2019. PMID: 30946993 Review.
Stroke-like episodes (SLEs) are the hallmark of mitochondrial encephalopathy with lactic acidosis and stroke-like episode (MELAS) syndrome but rarely occur also in other specific or nonspecific mitochondrial disorders. ...
Stroke-like episodes (SLEs) are the hallmark of mitochondrial encephalopathy with lactic acidosis and stroke-like episode
Management of epilepsy in MERRF syndrome.
Finsterer J, Zarrouk-Mahjoub S. Finsterer J, et al. Seizure. 2017 Aug;50:166-170. doi: 10.1016/j.seizure.2017.06.010. Epub 2017 Jun 24. Seizure. 2017. PMID: 28686997 Free article. Review.
High-dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome.
Guerrero-Molina MP, Morales-Conejo M, Delmiro A, Morán M, Domínguez-González C, Arranz-Canales E, Ramos-González A, Arenas J, Martín MA, de la Aleja JG. Guerrero-Molina MP, et al. Eur J Neurol. 2023 Feb;30(2):538-547. doi: 10.1111/ene.15626. Epub 2022 Nov 18. Eur J Neurol. 2023. PMID: 36334048
One patient developed mild and transient elevation of transaminases, and another patient was admitted for an epileptic status without stroke-like episode. DISCUSSION: This study demonstrates that high-dose oral glutamine supplementation significantly reduces …
One patient developed mild and transient elevation of transaminases, and another patient was admitted for an epileptic status without str
Central nervous system complications in adult cystinosis patients.
Servais A, Saitovitch A, Hummel A, Boisgontier J, Scemla A, Sberro-Soussan R, Snanoudj R, Lemaitre H, Legendre C, Pontoizeau C, Antignac C, Anglicheau D, Funalot B, Boddaert N. Servais A, et al. J Inherit Metab Dis. 2020 Mar;43(2):348-356. doi: 10.1002/jimd.12164. Epub 2019 Sep 18. J Inherit Metab Dis. 2020. PMID: 31444911
Seven patients (38.9%) presented with at least one central nervous system clinical abnormality: two (11.1%) with seizures, three (16.7%) with memory defects, five (27.8%) with cognitive defect, and one (5.5%) with stroke-like episode. ...
Seven patients (38.9%) presented with at least one central nervous system clinical abnormality: two (11.1%) with seizures, three (16. …
8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease.
Ganetzky RD, Falk MJ. Ganetzky RD, et al. Mol Genet Metab. 2018 Mar;123(3):301-308. doi: 10.1016/j.ymgme.2018.01.010. Epub 2018 Feb 2. Mol Genet Metab. 2018. PMID: 29428506 Free PMC article.
Subject age ranged from 19 months to 23 years at the time of any metabolic stroke episode (median, 8 years). 3 subjects had recurrent stroke episodes. 70% of subjects were on prophylactic arginine or citrulline therapy at the time of a stroke-like episode. IV …
Subject age ranged from 19 months to 23 years at the time of any metabolic stroke episode (median, 8 years). 3 subjects had recurrent stroke …
Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS): A Case Report and Critical Reappraisal of Treatment Options.
Fryer RH, Bain JM, De Vivo DC. Fryer RH, et al. Pediatr Neurol. 2016 Mar;56:59-61. doi: 10.1016/j.pediatrneurol.2015.12.010. Epub 2015 Dec 19. Pediatr Neurol. 2016. PMID: 26797286 Free PMC article.
We discuss the management of a patient with mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes who presented with a stroke-like episode. OBSERVATION: During a seizure, which triggers the stroke-like episode, neurons …
We discuss the management of a patient with mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes who presented with a …
Mitochondrial DNA in stroke and migraine with aura.
Ojaimi J, Katsabanis S, Bower S, Quigley A, Byrne E. Ojaimi J, et al. Cerebrovasc Dis. 1998 Mar-Apr;8(2):102-6. doi: 10.1159/000015826. Cerebrovasc Dis. 1998. PMID: 9548008 Clinical Trial.
Mutations usually associated with either mitochondrial encephalopathy, lactic acidosis and stroke-like episode, myoclonic epilepsy with ragged red fibres, or those strongly linked to Leber's hereditary optic neuropathy (LHON) were not detected in patients or …
Mutations usually associated with either mitochondrial encephalopathy, lactic acidosis and stroke-like episode, myoclon …
Chorea-ballism as a dominant clinical manifestation in heteroplasmic mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome with A3251G mutation in mitochondrial genome: a case report.
Lahiri D, Sawale VM, Banerjee S, Dubey S, Roy BK, Das SK. Lahiri D, et al. J Med Case Rep. 2019 Mar 6;13(1):63. doi: 10.1186/s13256-018-1936-0. J Med Case Rep. 2019. PMID: 30837005 Free PMC article.
We present here a case of heteroplasmic mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome with A3251G mutation, in which the clinical picture was dominated by a host of involuntary abnormal movements including chorea-ballism, myoclonus, and o …
We present here a case of heteroplasmic mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome with A3251G mutatio …
22 results