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22 results

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Page 1
Mitochondrial Retinopathies.
Zeviani M, Carelli V. Zeviani M, et al. Int J Mol Sci. 2021 Dec 25;23(1):210. doi: 10.3390/ijms23010210. Int J Mol Sci. 2021. PMID: 35008635 Free PMC article. Review.
The main genetic abnormalities of mtDNA include mutations associated with neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) sometimes with earlier onset and increased severity (maternally inherited Leigh syndrome, MILS), single large-scale deletions determ …
The main genetic abnormalities of mtDNA include mutations associated with neurogenic muscle weakness, ataxia and retinitis pigmentosa (NA …
Mitochondrial Retinopathy.
Birtel J, von Landenberg C, Gliem M, Gliem C, Reimann J, Kunz WS, Herrmann P, Betz C, Caswell R, Nesbitt V, Kornblum C, Charbel Issa P. Birtel J, et al. Ophthalmol Retina. 2022 Jan;6(1):65-79. doi: 10.1016/j.oret.2021.02.017. Epub 2021 Jul 10. Ophthalmol Retina. 2022. PMID: 34257060 Free article.
PARTICIPANTS: Twenty-three patients with retinopathy and mitochondrial disease, including chronic progressive external ophthalmoplegia (CPEO), maternally inherited diabetes and deafness (MIDD), mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), Ke …
PARTICIPANTS: Twenty-three patients with retinopathy and mitochondrial disease, including chronic progressive external ophthalmoplegia (CPEO …
Neuropathy, Ataxia, and Retinitis Pigmentosa Syndrome.
Finsterer J. Finsterer J. J Clin Neuromuscul Dis. 2023 Mar 1;24(3):140-146. doi: 10.1097/CND.0000000000000422. J Clin Neuromuscul Dis. 2023. PMID: 36809201
OBJECTIVES: To provide an overview about the phenotype, genotype, treatment, and outcome of neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome. METHODS: Systematic review by application of appropriate search terms. RESULT …
OBJECTIVES: To provide an overview about the phenotype, genotype, treatment, and outcome of neuropathy, ataxia, and …
Variants in Human ATP Synthase Mitochondrial Genes: Biochemical Dysfunctions, Associated Diseases, and Therapies.
Del Dotto V, Musiani F, Baracca A, Solaini G. Del Dotto V, et al. Int J Mol Sci. 2024 Feb 13;25(4):2239. doi: 10.3390/ijms25042239. Int J Mol Sci. 2024. PMID: 38396915 Free PMC article. Review.
Since the discovery of the first MT-ATP6 variant in the year 1990 as the cause of Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome, a large and continuously increasing number of inborn variants in the MT-ATP6 and MT-ATP …
Since the discovery of the first MT-ATP6 variant in the year 1990 as the cause of Neuropathy, Ataxia, and Retinitis …
Mitochondrial disorders: Understanding mitochondrial DNA point mutations and deletion syndromes.
Heuer B, Seibert DC. Heuer B, et al. J Am Assoc Nurse Pract. 2022 Aug 1;34(8):954-956. doi: 10.1097/JXX.0000000000000755. J Am Assoc Nurse Pract. 2022. PMID: 36330549
This article focuses on a mtDNA base-pair mutation associated with neuropathy, ataxia, and retinitis pigmentosa and Leigh syndrome and the large-scale mtDNA deletion associated with Kearns-Sayre syndrome. ...
This article focuses on a mtDNA base-pair mutation associated with neuropathy, ataxia, and retinitis pigmento …
Molecular basis of Leigh syndrome: a current look.
Schubert Baldo M, Vilarinho L. Schubert Baldo M, et al. Orphanet J Rare Dis. 2020 Jan 29;15(1):31. doi: 10.1186/s13023-020-1297-9. Orphanet J Rare Dis. 2020. PMID: 31996241 Free PMC article. Review.
NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA SYNDROME: A MULTIDISCIPLINARY DIAGNOSIS.
Juaristi L, Irigoyen C, Quiroga J. Juaristi L, et al. Retin Cases Brief Rep. 2021 Jul 1;15(4):486-489. doi: 10.1097/ICB.0000000000000835. Retin Cases Brief Rep. 2021. PMID: 30346353 Free PMC article.
PURPOSE: To report a case of neuropathy, ataxia, and retinitis pigmentosa syndrome, a rare and undiagnosed disease in ophthalmology due to the need for multidisciplinary evaluation. ...CONCLUSION: This is the first report of macular atrophy demo …
PURPOSE: To report a case of neuropathy, ataxia, and retinitis pigmentosa syndrome, a rare and undiagnose …
Neuropathy, ataxia, retinitis pigmentosa: a case of a mother and two siblings.
Rabinovich M, Zambrowski O, Miere A, Bhouri R, Souied E. Rabinovich M, et al. Ophthalmic Genet. 2024 Apr;45(2):193-200. doi: 10.1080/13816810.2023.2253905. Epub 2023 Sep 6. Ophthalmic Genet. 2024. PMID: 37671548
RESULTS: All patients had the clinical manifestations of NARP syndrome, which were variably expressed symptomatically, on the fundus exams, electroretinogram, and visual fields. CONCLUSIONS: Once genetically established, NARP syndrome, as other mitocho …
RESULTS: All patients had the clinical manifestations of NARP syndrome, which were variably expressed symptomatically, on the …
"Myo-neuropathy" is commonly associated with mitochondrial tRNALysine mutation.
Ji K, Zhao B, Lin Y, Wang W, Liu F, Li W, Zhao Y, Yan C. Ji K, et al. J Neurol. 2020 Nov;267(11):3319-3328. doi: 10.1007/s00415-020-10017-z. Epub 2020 Jun 23. J Neurol. 2020. PMID: 32577866
A diagnosis of mitochondrial myopathy (MM) and neuropathy ataxia and retinitis pigmentosa (NARP/NARP-like) syndrome was made in 77% of symptomatic patients, whereas the classic syndrome of myoclonic epilepsy with ragged-red fibers …
A diagnosis of mitochondrial myopathy (MM) and neuropathy ataxia and retinitis pigmentosa (NARP/ …
Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy.
Licchetta L, Ferri L, La Morgia C, Zenesini C, Caporali L, Lucia Valentino M, Minardi R, Fulitano D, Di Vito L, Mostacci B, Alvisi L, Avoni P, Liguori R, Tinuper P, Bisulli F, Carelli V. Licchetta L, et al. Ann Clin Transl Neurol. 2021 Mar;8(3):704-710. doi: 10.1002/acn3.51259. Epub 2021 Jan 21. Ann Clin Transl Neurol. 2021. PMID: 33476484 Free PMC article.
The study aims to characterize the epilepsy phenotype of maternally inherited Leigh's syndrome (MILS) and neuropathy, ataxia, retinitis pigmentosa (NARP) due to mutations in the mitochondrial ATP6 gene and to correlate electroclinical fea …
The study aims to characterize the epilepsy phenotype of maternally inherited Leigh's syndrome (MILS) and neuropathy, ataxi …
22 results