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Year Number of Results
2016 3
2017 1
2018 3
2019 1
2020 7
2021 8
2022 6
2023 8
2024 5
2025 5
2026 1

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41 results

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Page 1
Progressive external ophthalmoplegia.
Hirano M, Pitceathly RDS. Hirano M, et al. Handb Clin Neurol. 2023;194:9-21. doi: 10.1016/B978-0-12-821751-1.00018-X. Handb Clin Neurol. 2023. PMID: 36813323 Free PMC article. Review.
Since then, multiple point variants of mtDNA and nuclear genes have been identified to cause mitochondrial PEO and PEO-plus syndromes, including mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) and sensory ataxic neuropathy dysarthria ophthalmoplegia (SANDO). …
Since then, multiple point variants of mtDNA and nuclear genes have been identified to cause mitochondrial PEO and PEO-plus syndromes, inclu …
Orphan Peripheral Neuropathies.
Finsterer J, Löscher WN, Wanschitz J, Iglseder S. Finsterer J, et al. J Neuromuscul Dis. 2021;8(1):1-23. doi: 10.3233/JND-200518. J Neuromuscul Dis. 2021. PMID: 32986679 Free PMC article. Review.
Among the complex neuropathies (hereditary multisystem disorders with concomitant neuropathies) orphan forms have been reported among mitochondrial disorders (e.g. NARP, MNGIE, SANDO), spinocerebellar ataxias (e.g. TMEM240), hereditary spastic paraplegias (e.g UBAP1), lyso …
Among the complex neuropathies (hereditary multisystem disorders with concomitant neuropathies) orphan forms have been reported among mitoch …
Ancestral allele of DNA polymerase gamma modifies antiviral tolerance.
Kang Y, Hepojoki J, Maldonado RS, Mito T, Terzioglu M, Manninen T, Kant R, Singh S, Othman A, Verma R, Uusimaa J, Wartiovaara K, Kareinen L, Zamboni N, Nyman TA, Paetau A, Kipar A, Vapalahti O, Suomalainen A. Kang Y, et al. Nature. 2024 Apr;628(8009):844-853. doi: 10.1038/s41586-024-07260-z. Epub 2024 Apr 3. Nature. 2024. PMID: 38570685 Free PMC article.
Here we investigated mitochondrial recessive ataxia syndrome (MIRAS), which is caused by a common European founder mutation in DNA polymerase gamma (POLG1)(5). Patients homozygous for the MIRAS variant p.W748S show exceptionally variable ages of onset and symptoms(5 …
Here we investigated mitochondrial recessive ataxia syndrome (MIRAS), which is caused by a common European founder mutation in DNA po …
Movement disorders in mitochondrial diseases.
Tranchant C, Anheim M. Tranchant C, et al. Rev Neurol (Paris). 2016 Aug-Sep;172(8-9):524-529. doi: 10.1016/j.neurol.2016.07.003. Epub 2016 Jul 28. Rev Neurol (Paris). 2016. PMID: 27476418 Review.
Cerebellar ataxia is common in myoclonic epilepsy with ragged red fibers (MERFF) due to mutations in the mitochondrial transfer RNA (tRNA) lysine gene, in Kearns-Sayre syndrome due to mtDNA deletions, in sensory ataxic neuropathy with dysarthria and ophthalmoplegia (SANDO) …
Cerebellar ataxia is common in myoclonic epilepsy with ragged red fibers (MERFF) due to mutations in the mitochondrial transfer RNA (tRNA) l …
Modafinil in Recovery after Stroke (MIRAS): A Retrospective Study.
Cross DB, Tiu J, Medicherla C, Ishida K, Lord A, Czeisler B, Wu C, Golub D, Karoub A, Hernandez C, Yaghi S, Torres J. Cross DB, et al. J Stroke Cerebrovasc Dis. 2020 Apr;29(4):104645. doi: 10.1016/j.jstrokecerebrovasdis.2020.104645. J Stroke Cerebrovasc Dis. 2020. PMID: 32147025
Sleep quality and perceived stress levels in Chinese patients with minor recurrent aphthous stomatitis: a cross-sectional questionnaire-based survey.
Gao X, Chen P, Liu J, Fan X, Wu Z, Fang H, Zhang Z. Gao X, et al. Postgrad Med. 2024 Sep;136(7):749-756. doi: 10.1080/00325481.2024.2399500. Epub 2024 Sep 5. Postgrad Med. 2024. PMID: 39215405
RESULTS: A total of 329 eligible volunteers participated in the study, comprising 122 Chinese MiRAS patients and 207 healthy controls without MiRAS. Compared to healthy participants, MiRAS patients exhibited significantly higher PSQI and ISI scores (p = 0.000 …
RESULTS: A total of 329 eligible volunteers participated in the study, comprising 122 Chinese MiRAS patients and 207 healthy controls …
Rod bipolar cell dysfunction in POLG retinopathy.
Sanderson KG, Millar E, Tumber A, Klatt R, Sondheimer N, Vincent A. Sanderson KG, et al. Doc Ophthalmol. 2021 Feb;142(1):111-118. doi: 10.1007/s10633-020-09777-w. Epub 2020 Jun 21. Doc Ophthalmol. 2021. PMID: 32567010
OBJECTIVE: To report the clinical and novel electrophysiological features in a child with POLG-related sensory ataxic neuropathy, dysarthria and ophthalmoparesis (SANDO). METHODS: The proband, a male child of Indian descent, underwent serial systemic and ophthalmological e …
OBJECTIVE: To report the clinical and novel electrophysiological features in a child with POLG-related sensory ataxic neuropathy, dysarthria …
Maria Teresa Miras Portugal: a pioneer for vesicular nucleotide storage.
Moriyama Y, Hasuzawa N, Nomura M. Moriyama Y, et al. Purinergic Signal. 2024 Apr;20(2):93-98. doi: 10.1007/s11302-022-09912-z. Epub 2022 Dec 16. Purinergic Signal. 2024. PMID: 36525101 Free PMC article. Review.
They contain high contents of catecholamines and nucleotides and have been regarded as a model system for the study of vesicular transmitter uptake and release. In 1988, Dr. Maria Teresa Miras Portugal, when studying catecholamine biosynthesis, detected a novel group of nu …
They contain high contents of catecholamines and nucleotides and have been regarded as a model system for the study of vesicular transmitter …
MRI findings in SANDO variety of the ataxia-neuropathy spectrum with a novel mutation in POLG (c.3287G>T): A case report.
Parada-Garza JD, López-Valencia G, Miranda-García LA, Pérez-García G, Ruiz-Sandoval JL. Parada-Garza JD, et al. Neuromuscul Disord. 2020 Jul;30(7):590-592. doi: 10.1016/j.nmd.2020.04.008. Epub 2020 May 19. Neuromuscul Disord. 2020. PMID: 32600829
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) is an adult onset sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia associated with mutations in POLG1. ...A POLG related disorder was suspected and after DNA sequen …
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) is an adult onset sensory ataxic neuropathy, dysarthria and ch …
41 results