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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 …
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 …
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 …
SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions.
Hanisch F, Kornhuber M, Alston CL, Taylor RW, Deschauer M, Zierz S. Hanisch F, et al. J Neurol Neurosurg Psychiatry. 2015 Jun;86(6):630-4. doi: 10.1136/jnnp-2013-306748. Epub 2014 Aug 20. J Neurol Neurosurg Psychiatry. 2015. PMID: 25143630
There is no systematic survey on SANDO in patients with CPEO with either single or multiple large-scale mtDNA deletions. ...The clinical, histological and genetic data of 11 patients with SANDO were further analysed. RESULTS: None of the 66 patients with single, lar …
There is no systematic survey on SANDO in patients with CPEO with either single or multiple large-scale mtDNA deletions. ...The clini …
Clinical and Molecular Features of POLG-Related Sensory Ataxic Neuropathy with Dysarthria and Ophthalmoparesis.
Li LX, Jiang LT, Pan YG, Zhang XL, Pan LZ, Nie ZY, Chen YH, Jin LJ. Li LX, et al. J Mol Neurosci. 2021 Dec;71(12):2462-2467. doi: 10.1007/s12031-021-01831-9. Epub 2021 Apr 1. J Mol Neurosci. 2021. PMID: 33791913
A few POLG-related SANDO cases have been reported, but the genotype-phenotype correlation remains unclear. ...We also reviewed previously reported cases to systematically evaluate the clinical and genetic features of POLG-related SANDO. A total of 35 distinct varian …
A few POLG-related SANDO cases have been reported, but the genotype-phenotype correlation remains unclear. ...We also reviewed previo …
Serum levels of total antioxidant status, nitric oxide and nitric oxide synthase in minor recurrent aphthous stomatitis patients.
Zhang Z, Zhang Q, Xue Y, Chen G, Wu Z, Fang H. Zhang Z, et al. Medicine (Baltimore). 2019 Jan;98(3):e14039. doi: 10.1097/MD.0000000000014039. Medicine (Baltimore). 2019. PMID: 30653111 Free PMC article.
The aim of this study was to compare the serum levels of total antioxidant status (TAS), nitric oxide (NO) and nitric oxide synthase (NOS) in minor RAS (MiRAS) patients with healthy individuals and determine the possible association of MiRAS with the 3 physiological …
The aim of this study was to compare the serum levels of total antioxidant status (TAS), nitric oxide (NO) and nitric oxide synthase (NOS) i …
Outcomes of Endoscopic Dacryocystorhinostomy in Secondary Acquired Nasolacrimal Duct Obstruction: A Case-Control Study.
Sweeney AR, Davis GE, Chang SH, Amadi AJ. Sweeney AR, et al. Ophthalmic Plast Reconstr Surg. 2018 Jan/Feb;34(1):20-25. doi: 10.1097/IOP.0000000000000841. Ophthalmic Plast Reconstr Surg. 2018. PMID: 27997463
This study evaluates outcomes of endoDCR for cases of SANDO in comparison to endoDCR outcomes treating primary acquired nasolacrimal duct obstruction (PANDO). ...Fisher-Freeman-Halton exact tests were performed comparing each SANDO group to the PANDO group with stat …
This study evaluates outcomes of endoDCR for cases of SANDO in comparison to endoDCR outcomes treating primary acquired nasolacrimal …
45 results