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4. RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement. Janer A; van Karnebeek CD; Sasarman F; Antonicka H; Al Ghamdi M; Shyr C; Dunbar M; Stockler-Ispiroglu S; Ross CJ; Vallance H; Dionne J; Wasserman WW; Shoubridge EA Eur J Hum Genet; 2015 Oct; 23(10):1301-7. PubMed ID: 25604853 [TBL] [Abstract][Full Text] [Related]
5. Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report. Gupta A; Colmenero I; Ragge NK; Blakely EL; He L; McFarland R; Taylor RW; Vogt J; Milford DV BMC Res Notes; 2016 Jun; 9():325. PubMed ID: 27350610 [TBL] [Abstract][Full Text] [Related]
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7. Hearing impairment and renal failure associated with RMND1 mutations. Ravn K; Neland M; Wibrand F; Duno M; Ostergaard E Am J Med Genet A; 2016 Jan; 170A(1):142-7. PubMed ID: 26395190 [TBL] [Abstract][Full Text] [Related]
8. New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder. Faridi R; Rea A; Fenollar-Ferrer C; O'Keefe RT; Gu S; Munir Z; Khan AA; Riazuddin S; Hoa M; Naz S; Newman WG; Friedman TB Hum Genet; 2022 Apr; 141(3-4):805-819. PubMed ID: 34338890 [TBL] [Abstract][Full Text] [Related]
9. Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders. Domínguez-Ruiz M; García-Martínez A; Corral-Juan M; Pérez-Álvarez ÁI; Plasencia AM; Villamar M; Moreno-Pelayo MA; Matilla-Dueñas A; Menéndez-González M; Del Castillo I J Transl Med; 2019 Aug; 17(1):290. PubMed ID: 31455392 [TBL] [Abstract][Full Text] [Related]
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11. RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection. Ulrick N; Goldstein A; Simons C; Taft RJ; Helman G; Pizzino A; Bloom M; Vogt J; Pysden K; Diodato D; Martinelli D; Monavari A; Buhas D; van Karnebeek CD; Dorboz I; Boespflug-Tanguy O; Rodriguez D; Tétreault M; Majewski J; Bernard G; Ng YS; ; McFarland R; Vanderver A Pediatr Neurol; 2017 Jan; 66():59-62. PubMed ID: 27843092 [TBL] [Abstract][Full Text] [Related]
12. An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect. Janer A; Antonicka H; Lalonde E; Nishimura T; Sasarman F; Brown GK; Brown RM; Majewski J; Shoubridge EA Am J Hum Genet; 2012 Oct; 91(4):737-43. PubMed ID: 23022098 [TBL] [Abstract][Full Text] [Related]
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15. Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1? Casey JP; Crushell E; Thompson K; Twomey E; He L; Ennis S; Philip RK; Taylor RW; King MD; Lynch SA JIMD Rep; 2016; 26():13-9. PubMed ID: 26238252 [TBL] [Abstract][Full Text] [Related]
16. Exome sequencing and metabolomic analysis of a chronic kidney disease and hearing loss patient family revealed RMND1 mutation induced sphingolipid metabolism defects. Gaboon NEA; Banaganapalli B; Nasser K; Razeeth M; Alsaedi MS; Rashidi OM; Abdelwehab LS; Alahmadi TS; Safdar OY; Shaik J; Choudhry HMZ; Al-Numan HH; Khan MI; Al-Aama JY; Elango R; Shaik NA Saudi J Biol Sci; 2020 Jan; 27(1):324-334. PubMed ID: 31889854 [TBL] [Abstract][Full Text] [Related]