282 related articles for article (PubMed ID: 22569581)
1. Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.
Cassandrini D; Cilio MR; Bianchi M; Doimo M; Balestri M; Tessa A; Rizza T; Sartori G; Meschini MC; Nesti C; Tozzi G; Petruzzella V; Piemonte F; Bisceglia L; Bruno C; Dionisi-Vici C; D'Amico A; Fattori F; Carrozzo R; Salviati L; Santorelli FM; Bertini E
J Inherit Metab Dis; 2013 Jan; 36(1):43-53. PubMed ID: 22569581
[TBL] [Abstract][Full Text] [Related]
2. A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome.
Nevanlinna V; Konovalova S; Ceulemans B; Muona M; Laari A; Hilander T; Gorski K; Valanne L; Anttonen AK; Tyynismaa H; Courage C; Lehesjoki AE
Eur J Med Genet; 2020 Mar; 63(3):103766. PubMed ID: 31536827
[TBL] [Abstract][Full Text] [Related]
3. Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum.
Lühl S; Bode H; Schlötzer W; Bartsakoulia M; Horvath R; Abicht A; Stenzel M; Kirschner J; Grünert SC
Orphanet J Rare Dis; 2016 Oct; 11(1):140. PubMed ID: 27769281
[TBL] [Abstract][Full Text] [Related]
4. Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations.
Kastrissianakis K; Anand G; Quaghebeur G; Price S; Prabhakar P; Marinova J; Brown G; McShane T
Arch Dis Child; 2013 Dec; 98(12):1004-7. PubMed ID: 24047924
[TBL] [Abstract][Full Text] [Related]
5. Clinical and genetic analysis of infants with pontocerebellar hypoplasia type 6 caused by RARS2 variations.
Zhao S; Lian R; Jin L; Li M; Jia T; Xu F; Du K; Wang L; Guo Q; Dong Y
Epilepsia Open; 2024 Feb; 9(1):250-257. PubMed ID: 38009286
[TBL] [Abstract][Full Text] [Related]
6. [Early onset epileptic encephalopathy caused by mitochondrial arginyl-tRNA synthetase gene deficiency: report of two cases and literature review].
Jiang HF; Deng J; Fang F; Li H; Wang XH; Dai LF
Zhonghua Er Ke Za Zhi; 2020 Nov; 58(11):893-899. PubMed ID: 33120460
[No Abstract] [Full Text] [Related]
7. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
Namavar Y; Barth PG; Kasher PR; van Ruissen F; Brockmann K; Bernert G; Writzl K; Ventura K; Cheng EY; Ferriero DM; Basel-Vanagaite L; Eggens VR; Krägeloh-Mann I; De Meirleir L; King M; Graham JM; von Moers A; Knoers N; Sztriha L; Korinthenberg R; ; Dobyns WB; Baas F; Poll-The BT
Brain; 2011 Jan; 134(Pt 1):143-56. PubMed ID: 20952379
[TBL] [Abstract][Full Text] [Related]
8. RARS2 mutations in a sibship with infantile spasms.
Ngoh A; Bras J; Guerreiro R; Meyer E; McTague A; Dawson E; Mankad K; Gunny R; Clayton P; Mills PB; Thornton R; Lai M; Forsyth R; Kurian MA
Epilepsia; 2016 May; 57(5):e97-e102. PubMed ID: 27061686
[TBL] [Abstract][Full Text] [Related]
9. Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report.
Walimbe AS; Machol K; Kralik SF; Mizerik EA; Gofin Y; Bekheirnia MR; Gijavanekar C; Elsea SH; Emrick LT; Scaglia F
BMC Neurol; 2024 Mar; 24(1):87. PubMed ID: 38438854
[TBL] [Abstract][Full Text] [Related]
10. Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2.
Glamuzina E; Brown R; Hogarth K; Saunders D; Russell-Eggitt I; Pitt M; de Sousa C; Rahman S; Brown G; Grunewald S
J Inherit Metab Dis; 2012 May; 35(3):459-67. PubMed ID: 22086604
[TBL] [Abstract][Full Text] [Related]
11. A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.
Li Z; Schonberg R; Guidugli L; Johnson AK; Arnovitz S; Yang S; Scafidi J; Summar ML; Vezina G; Das S; Chapman K; del Gaudio D
J Hum Genet; 2015 Jul; 60(7):363-9. PubMed ID: 25809939
[TBL] [Abstract][Full Text] [Related]
12. Novel RARS2 Variants: Updating the Diagnosis and Pathogenesis of Pontocerebellar Hypoplasia Type 6.
Zhang Y; Yu Y; Zhao X; Xu Y; Chen L; Li N; Yao R; Wang J; Yu T
Pediatr Neurol; 2022 Jun; 131():30-41. PubMed ID: 35468344
[TBL] [Abstract][Full Text] [Related]
13. Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.
Lax NZ; Alston CL; Schon K; Park SM; Krishnakumar D; He L; Falkous G; Ogilvy-Stuart A; Lees C; King RH; Hargreaves IP; Brown GK; McFarland R; Dean AF; Taylor RW
J Neuropathol Exp Neurol; 2015 Jul; 74(7):688-703. PubMed ID: 26083569
[TBL] [Abstract][Full Text] [Related]
14. Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia.
Edvardson S; Shaag A; Kolesnikova O; Gomori JM; Tarassov I; Einbinder T; Saada A; Elpeleg O
Am J Hum Genet; 2007 Oct; 81(4):857-62. PubMed ID: 17847012
[TBL] [Abstract][Full Text] [Related]
15. RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia.
Nishri D; Goldberg-Stern H; Noyman I; Blumkin L; Kivity S; Saitsu H; Nakashima M; Matsumoto N; Leshinsky-Silver E; Lerman-Sagie T; Lev D
Eur J Paediatr Neurol; 2016 May; 20(3):412-7. PubMed ID: 26970947
[TBL] [Abstract][Full Text] [Related]
16. Distinct magnetic resonance imaging features in a patient with novel
Zhang J; Zhang Z; Zhang Y; Wu Y
Exp Ther Med; 2018 Jan; 15(1):1099-1104. PubMed ID: 29434700
[TBL] [Abstract][Full Text] [Related]
17. A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia.
Nicolle R; Altin N; Siquier-Pernet K; Salignac S; Blanc P; Munnich A; Bole-Feysot C; Malan V; Caron B; Nitschké P; Desguerre I; Boddaert N; Rio M; Rausell A; Cantagrel V
BMC Med Genomics; 2023 Jun; 16(1):143. PubMed ID: 37344844
[TBL] [Abstract][Full Text] [Related]
18. Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.
Namavar Y; Barth PG; Poll-The BT; Baas F
Orphanet J Rare Dis; 2011 Jul; 6():50. PubMed ID: 21749694
[TBL] [Abstract][Full Text] [Related]
19. Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations.
Bierhals T; Korenke GC; Uyanik G; Kutsche K
Eur J Med Genet; 2013 Jun; 56(6):325-30. PubMed ID: 23562994
[TBL] [Abstract][Full Text] [Related]
20. Pontocerebellar hypoplasia type 6: A British case with PEHO-like features.
Rankin J; Brown R; Dobyns WB; Harington J; Patel J; Quinn M; Brown G
Am J Med Genet A; 2010 Aug; 152A(8):2079-84. PubMed ID: 20635367
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
