130 related articles for article (PubMed ID: 31462754)
1. The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.
Keshavan N; Abdenur J; Anderson G; Assouline Z; Barcia G; Bouhikbar L; Chakrapani A; Cleary M; Cohen MC; Feillet F; Fratter C; Hauser N; Jacques T; Lam A; McCullagh H; Phadke R; Rötig A; Sharrard M; Simon M; Smith C; Sommerville EW; Taylor RW; Yue WW; Rahman S
Genet Med; 2020 Jan; 22(1):199-209. PubMed ID: 31462754
[TBL] [Abstract][Full Text] [Related]
2. Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.
Pitceathly RD; Smith C; Fratter C; Alston CL; He L; Craig K; Blakely EL; Evans JC; Taylor J; Shabbir Z; Deschauer M; Pohl U; Roberts ME; Jackson MC; Halfpenny CA; Turnpenny PD; Lunt PW; Hanna MG; Schaefer AM; McFarland R; Horvath R; Chinnery PF; Turnbull DM; Poulton J; Taylor RW; Gorman GS
Brain; 2012 Nov; 135(Pt 11):3392-403. PubMed ID: 23107649
[TBL] [Abstract][Full Text] [Related]
3. Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene.
Bornstein B; Area E; Flanigan KM; Ganesh J; Jayakar P; Swoboda KJ; Coku J; Naini A; Shanske S; Tanji K; Hirano M; DiMauro S
Neuromuscul Disord; 2008 Jun; 18(6):453-9. PubMed ID: 18504129
[TBL] [Abstract][Full Text] [Related]
4. A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death.
Penque BA; Su L; Wang J; Ji W; Bale A; Luh F; Fulbright RK; Sarmast U; Sega AG; Konstantino M; Spencer-Manzon M; Pierce R; Yen Y; Lakhani SA
Eur J Med Genet; 2019 Nov; 62(11):103574. PubMed ID: 30439532
[TBL] [Abstract][Full Text] [Related]
5. A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion.
Kollberg G; Darin N; Benan K; Moslemi AR; Lindal S; Tulinius M; Oldfors A; Holme E
Neuromuscul Disord; 2009 Feb; 19(2):147-50. PubMed ID: 19138848
[TBL] [Abstract][Full Text] [Related]
6. A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions.
Tyynismaa H; Ylikallio E; Patel M; Molnar MJ; Haller RG; Suomalainen A
Am J Hum Genet; 2009 Aug; 85(2):290-5. PubMed ID: 19664747
[TBL] [Abstract][Full Text] [Related]
7. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.
Bourdon A; Minai L; Serre V; Jais JP; Sarzi E; Aubert S; Chrétien D; de Lonlay P; Paquis-Flucklinger V; Arakawa H; Nakamura Y; Munnich A; Rötig A
Nat Genet; 2007 Jun; 39(6):776-80. PubMed ID: 17486094
[TBL] [Abstract][Full Text] [Related]
8. Kearns-Sayre syndrome caused by defective R1/p53R2 assembly.
Pitceathly RD; Fassone E; Taanman JW; Sadowski M; Fratter C; Mudanohwo EE; Woodward CE; Sweeney MG; Holton JL; Hanna MG; Rahman S
J Med Genet; 2011 Sep; 48(9):610-7. PubMed ID: 21378381
[TBL] [Abstract][Full Text] [Related]
9. Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report.
Li X; Li L; Sun Y; Lv F; Zhang G; Liu W; Zhang M; Jiang H; Liu S
BMC Med Genet; 2019 Aug; 20(1):146. PubMed ID: 31455269
[TBL] [Abstract][Full Text] [Related]
10. A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy.
Acham-Roschitz B; Plecko B; Lindbichler F; Bittner R; Mache CJ; Sperl W; Mayr JA
Mol Genet Metab; 2009 Nov; 98(3):300-4. PubMed ID: 19616983
[TBL] [Abstract][Full Text] [Related]
11. Phenotypic and Genotypic Heterogeneity of RRM2B Variants.
Finsterer J; Zarrouk-Mahjoub S
Neuropediatrics; 2018 Aug; 49(4):231-237. PubMed ID: 29241262
[TBL] [Abstract][Full Text] [Related]
12. Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion.
Varma H; Faust PL; Iglesias AD; Lagana SM; Wou K; Hirano M; DiMauro S; Mansukani MM; Hoff KE; Nagy PL; Copeland WC; Naini AB
Eur J Med Genet; 2016 Oct; 59(10):540-5. PubMed ID: 27592148
[TBL] [Abstract][Full Text] [Related]
13. A novel
Fumagalli M; Ronchi D; Bedeschi MF; Manini A; Cristofori G; Mosca F; Dilena R; Sciacco M; Zanotti S; Piga D; Ardissino G; Triulzi F; Corti S; Comi GP; Salviati L
Mol Genet Metab Rep; 2022 Sep; 32():100887. PubMed ID: 35756861
[TBL] [Abstract][Full Text] [Related]
14. Infantile peripheral neuropathy, deafness, and proximal tubulopathy associated with a novel mutation of the RRM2B gene: case study.
Stojanovic V; Mayr JA; Sperl W; Barišić N; Doronjski A; Milak G
Croat Med J; 2013 Dec; 54(6):579-84. PubMed ID: 24382854
[TBL] [Abstract][Full Text] [Related]
15. Novel RRM2B Mutation and Severe Mitochondrial DNA Depletion: Report of 2 Cases and Review of the Literature.
Kropach N; Shkalim-Zemer V; Orenstein N; Scheuerman O; Straussberg R
Neuropediatrics; 2017 Dec; 48(6):456-462. PubMed ID: 28482374
[No Abstract] [Full Text] [Related]
16. Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern.
Restrepo-Vera JL; Rovira-Moreno E; Ramón J; Codina-Sola M; Llauradó A; Salvadó M; Sánchez-Tejerina D; Sotoca J; Martínez-Sáez E; Martí R; García-Arumí E; Juntas-Morales R
J Hum Genet; 2023 Aug; 68(8):527-532. PubMed ID: 36959467
[TBL] [Abstract][Full Text] [Related]
17. Congenital cochlear deafness in mitochondrial diseases related to RRM2B and SERAC1 gene defects. A study of the mitochondrial patients of the CMHI hospital in Warsaw, Poland.
Iwanicka-Pronicka K; Ciara E; Piekutowska-Abramczuk D; Halat P; Pajdowska M; Pronicki M
Int J Pediatr Otorhinolaryngol; 2019 Jun; 121():143-149. PubMed ID: 30909120
[TBL] [Abstract][Full Text] [Related]
18. Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia.
Rodríguez-López C; García-Cárdaba LM; Blázquez A; Serrano-Lorenzo P; Gutiérrez-Gutiérrez G; San Millán-Tejado B; Muelas N; Hernández-Laín A; Vílchez JJ; Gutiérrez-Rivas E; Arenas J; Martín MA; Domínguez-González C
J Med Genet; 2020 Sep; 57(9):643-646. PubMed ID: 32161153
[TBL] [Abstract][Full Text] [Related]
19. Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia.
Takata A; Kato M; Nakamura M; Yoshikawa T; Kanba S; Sano A; Kato T
Genome Biol; 2011 Sep; 12(9):R92. PubMed ID: 21951382
[TBL] [Abstract][Full Text] [Related]
20. Prediction of the Impact of Deleterious Nonsynonymous Single Nucleotide Polymorphisms on the Human
Ait El Cadi C; Krami AM; Charoute H; Elkarhat Z; Sifeddine N; Lakhiari H; Rouba H; Barakat A; Nahili H
Biomed Res Int; 2020; 2020():7614634. PubMed ID: 32775440
[No Abstract] [Full Text] [Related]
[Next] [New Search]
