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Quoted phrase not found in phrase index: "POLG-Related Spectrum Disorders"
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Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC. Wong LJ, et al. Hum Mutat. 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824. Hum Mutat. 2008. PMID: 18546365 Free PMC article.
Two mutant alleles were identified in 31 unrelated index patients with autosomal recessive POLG-related disorders. Among them, 20 (67%) had Alpers syndrome, 4 (13%) had arPEO, and 3 (10%) had ANS. ...In conclusion, sequence analysis allows the identification …
Two mutant alleles were identified in 31 unrelated index patients with autosomal recessive POLG-related disorders. Amon …
POLG-associated ataxias can represent a substantial part of recessive and sporadic ataxias in adults.
Nuzhnyi E, Seliverstov Y, Klyushnikov S, Krylova T, Tsygankova P, Bychkov I, Zakharova E, Konovalov R, Fedin P, Abramycheva N, Illarioshkin S. Nuzhnyi E, et al. Clin Neurol Neurosurg. 2021 Feb;201:106462. doi: 10.1016/j.clineuro.2020.106462. Epub 2021 Jan 7. Clin Neurol Neurosurg. 2021. PMID: 33434755
RESULTS: In our cohort of 74 adult patients with autosomal recessive and sporadic ataxias, POLG-related disease was identified in 11 individuals (14.9 %). The median age of onset was 30 years. ...In future clinical studies, thorough cognitive and neuropsychia …
RESULTS: In our cohort of 74 adult patients with autosomal recessive and sporadic ataxias, POLG-related disease was ide …
The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.
Hikmat O, Tzoulis C, Chong WK, Chentouf L, Klingenberg C, Fratter C, Carr LJ, Prabhakar P, Kumaraguru N, Gissen P, Cross JH, Jacques TS, Taanman JW, Bindoff LA, Rahman S. Hikmat O, et al. Genet Med. 2017 Nov;19(11):1217-1225. doi: 10.1038/gim.2017.35. Epub 2017 Apr 27. Genet Med. 2017. PMID: 28471437 Free article.
We aimed to improve the clinical recognition of POLG-related disorders in the pediatric population.MethodsWe performed a multinational, phenotype: genotype study using patients from three centers, two Norwegian and one from the United Kingdom. ...Epilepsy was …
We aimed to improve the clinical recognition of POLG-related disorders in the pediatric population.MethodsWe performed …
The presence of anaemia negatively influences survival in patients with POLG disease.
Hikmat O, Tzoulis C, Klingenberg C, Rasmussen M, Tallaksen CME, Brodtkorb E, Fiskerstrand T, McFarland R, Rahman S, Bindoff LA. Hikmat O, et al. J Inherit Metab Dis. 2017 Nov;40(6):861-866. doi: 10.1007/s10545-017-0084-9. Epub 2017 Sep 1. J Inherit Metab Dis. 2017. PMID: 28865037
The aim of this study was to analyse the frequency of anaemia in a large cohort of patients with POLG related disease. METHODS: We conducted a multi-national, retrospective study of 61 patients with confirmed, pathogenic biallelic POLG mutations from six cent …
The aim of this study was to analyse the frequency of anaemia in a large cohort of patients with POLG related disease. …