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Quoted phrase not found in phrase index: "Perrault syndrome 1"
Page 1
Spectrum of combined respiratory chain defects.
Mayr JA, Haack TB, Freisinger P, Karall D, Makowski C, Koch J, Feichtinger RG, Zimmermann FA, Rolinski B, Ahting U, Meitinger T, Prokisch H, Sperl W. Mayr JA, et al. J Inherit Metab Dis. 2015 Jul;38(4):629-40. doi: 10.1007/s10545-015-9831-y. Epub 2015 Mar 17. J Inherit Metab Dis. 2015. PMID: 25778941 Free PMC article. Review.
Combined OXPHOS defects have a great variety of clinical manifestations in terms of onset, course severity and tissue involvement. They can present as classical encephalomyopathy but also with hepatopathy, nephropathy, haematologic findings and Perrault syndrome …
Combined OXPHOS defects have a great variety of clinical manifestations in terms of onset, course severity and tissue involvement. Th …
Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome.
Ołdak M, Oziębło D, Pollak A, Stępniak I, Lazniewski M, Lechowicz U, Kochanek K, Furmanek M, Tacikowska G, Plewczynski D, Wolak T, Płoski R, Skarżyński H. Ołdak M, et al. J Transl Med. 2017 Feb 8;15(1):25. doi: 10.1186/s12967-017-1129-4. J Transl Med. 2017. PMID: 28178980 Free PMC article.
BACKGROUND: Hearing loss and ovarian dysfunction are key features of Perrault syndrome (PRLTS) but the clinical and pathophysiological features of hearing impairment in PRLTS individuals have not been addressed. ...In silico analysis including 3D protein structure m …
BACKGROUND: Hearing loss and ovarian dysfunction are key features of Perrault syndrome (PRLTS) but the clinical and pathophysi …
Two Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement.
Oziębło D, Pazik J, Stępniak I, Skarżyński H, Ołdak M. Oziębło D, et al. Genes (Basel). 2020 Sep 8;11(9):1060. doi: 10.3390/genes11091060. Genes (Basel). 2020. PMID: 32911714 Free PMC article.
The patients have no neurological or intellectual impairment, and nephrological evaluation predicts a benign course of kidney disease. Our study presents the mildest, so far reported, RMND1-related phenotype and delivers the first independent confirmation that RMND1 …
The patients have no neurological or intellectual impairment, and nephrological evaluation predicts a benign course of kidney …
LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss.
Neyroud AS, Rudinger-Thirion J, Frugier M, Riley LG, Bidet M, Akloul L, Simpson A, Gilot D, Christodoulou J, Ravel C, Sinclair AH, Belaud-Rotureau MA, Tucker EJ, Jaillard S. Neyroud AS, et al. Eur J Hum Genet. 2023 Apr;31(4):453-460. doi: 10.1038/s41431-022-01252-1. Epub 2022 Dec 1. Eur J Hum Genet. 2023. PMID: 36450801 Free PMC article.
Surprisingly, they shared one known and one novel likely pathogenic variant in the Perrault syndrome gene, LARS2. Using amino-acylation studies, we established that the novel missense variant significantly impairs LARS2 function. Perrault syndrome is c …
Surprisingly, they shared one known and one novel likely pathogenic variant in the Perrault syndrome gene, LARS2. Using amino- …