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Ischemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation.
Scarcella S, Dell'Arti L, Gagliardi D, Magri F, Govoni A, Velardo D, Mainetti C, Minorini V, Ronchi D, Piga D, Comi GP, Corti S, Meneri M. Scarcella S, et al. Among authors: meneri m. BMC Neurol. 2023 Apr 24;23(1):165. doi: 10.1186/s12883-023-03198-3. BMC Neurol. 2023. PMID: 37095452 Free PMC article.
CASE PRESENTATION: Here we describe a 55-year-old woman, sister of a previously described patient with MELAS harbouring the m.3243A > G (p.0, MT-TL1) mutation, with otherwise unremarkable medical history, that presented with subacute, painful visual impairment of one ey …
CASE PRESENTATION: Here we describe a 55-year-old woman, sister of a previously described patient with MELAS harbouring the m.3243A & …
Primary mitochondrial myopathy: 12-month follow-up results of an Italian cohort.
Montano V, Lopriore P, Gruosso F, Carelli V, Comi GP, Filosto M, Lamperti C, Mongini T, Musumeci O, Servidei S, Tonin P, Toscano A, Primiano G, Valentino ML, Bortolani S, Marchet S, Ricci G, Modenese A, Cotti Piccinelli S, Risi B, Meneri M, Arena IG, Siciliano G, Mancuso M. Montano V, et al. Among authors: meneri m. J Neurol. 2022 Dec;269(12):6555-6565. doi: 10.1007/s00415-022-11324-3. Epub 2022 Aug 18. J Neurol. 2022. PMID: 35980466 Free PMC article.
RESULTS: At 12-month follow-up, 3TUG, 5XSST and FSS were stable, while TWST and the perceived pain severity (WHYMPI) worsened. 6MWD significantly increased in the entire cohort, especially in the higher percentiles and in PEO patients, while was substantially stable in the lower …
RESULTS: At 12-month follow-up, 3TUG, 5XSST and FSS were stable, while TWST and the perceived pain severity (WHYMPI) worsened. 6MWD signific …
Expanding the clinical spectrum of the mitochondrial mutation A13084T in the ND5 gene.
Brusa R, Mauri E, Dell'Arti L, Magri F, Ronchi D, Minorini V, Mainetti C, Gagliardi D, Faravelli I, Meneri M, Bresolin N, Viola F, Corti S, Comi GP. Brusa R, et al. Among authors: meneri m. Neurol Genet. 2020 Sep 15;6(5):e511. doi: 10.1212/NXG.0000000000000511. eCollection 2020 Oct. Neurol Genet. 2020. PMID: 33062892 Free PMC article. No abstract available.
Primary mitochondrial myopathy: Clinical features and outcome measures in 118 cases from Italy.
Montano V, Gruosso F, Carelli V, Comi GP, Filosto M, Lamperti C, Mongini T, Musumeci O, Servidei S, Tonin P, Toscano A, Modenese A, Primiano G, Valentino ML, Bortolani S, Marchet S, Meneri M, Tavilla G, Siciliano G, Mancuso M. Montano V, et al. Among authors: meneri m. Neurol Genet. 2020 Oct 20;6(6):e519. doi: 10.1212/NXG.0000000000000519. eCollection 2020 Dec. Neurol Genet. 2020. PMID: 33209982 Free PMC article.
Unraveling the Neurological Complexity of Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Protein, and Skin Changes Syndrome: A Report of a Challenging Case of a Young Woman and Cutting-Edge Advancements in the Field.
Furciniti G, Casalino G, Lo Russo FM, Bolli N, Meneri M, Comi GP, Corti SP, Velardo D. Furciniti G, et al. Among authors: meneri m. Diseases. 2023 Nov 10;11(4):167. doi: 10.3390/diseases11040167. Diseases. 2023. PMID: 37987277 Free PMC article.
POEMS syndrome-characterized by polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes-is an uncommon and complex paraneoplastic disorder encompassing a diverse array of symptoms. ...
POEMS syndrome-characterized by polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes-is an uncommon and complex …
Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature.
Gagliardi D, Mauri E, Magri F, Velardo D, Meneri M, Abati E, Brusa R, Faravelli I, Piga D, Ronchi D, Triulzi F, Peverelli L, Sciacco M, Bresolin N, Comi GP, Corti S, Govoni A. Gagliardi D, et al. Among authors: meneri m. Front Neurol. 2019 Jan 31;10:38. doi: 10.3389/fneur.2019.00038. eCollection 2019. Front Neurol. 2019. PMID: 30766507 Free PMC article.
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disorder that is most commonly caused by the m. 3243A>G mutation in the MT-TL1 mitochondrial DNA gene, resulting in impairment of mitochon …
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disorder …