155 related articles for article (PubMed ID: 20236116)
1. Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency.
Urreizti R; Moya-García AA; Pino-Ángeles A; Cozar M; Langkilde A; Fanhoe U; Esteves C; Arribas J; Vilaseca MA; Pérez-Dueñas B; Pineda M; González V; Artuch R; Baldellou A; Vilarinho L; Fowler B; Ribes A; Sánchez-Jiménez F; Grinberg D; Balcells S
Clin Genet; 2010 Nov; 78(5):441-8. PubMed ID: 20236116
[TBL] [Abstract][Full Text] [Related]
2. Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.
Burda P; Suormala T; Heuberger D; Schäfer A; Fowler B; Froese DS; Baumgartner MR
J Inherit Metab Dis; 2017 Mar; 40(2):297-306. PubMed ID: 27743313
[TBL] [Abstract][Full Text] [Related]
3. Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency.
Schwahn BC; Laryea MD; Chen Z; Melnyk S; Pogribny I; Garrow T; James SJ; Rozen R
Biochem J; 2004 Sep; 382(Pt 3):831-40. PubMed ID: 15217352
[TBL] [Abstract][Full Text] [Related]
4. Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation.
Sibani S; Leclerc D; Weisberg IS; O'Ferrall E; Watkins D; Artigas C; Rosenblatt DS; Rozen R
Hum Mutat; 2003 May; 21(5):509-20. PubMed ID: 12673793
[TBL] [Abstract][Full Text] [Related]
5. Survival and psychomotor development with early betaine treatment in patients with severe methylenetetrahydrofolate reductase deficiency.
Diekman EF; de Koning TJ; Verhoeven-Duif NM; Rovers MM; van Hasselt PM
JAMA Neurol; 2014 Feb; 71(2):188-94. PubMed ID: 24323041
[TBL] [Abstract][Full Text] [Related]
6. Severe 5,10-methylenetetrahydrofolate reductase deficiency and two MTHFR variants in an adolescent with progressive myoclonic epilepsy.
D'Aco KE; Bearden D; Watkins D; Hyland K; Rosenblatt DS; Ficicioglu C
Pediatr Neurol; 2014 Aug; 51(2):266-70. PubMed ID: 25079578
[TBL] [Abstract][Full Text] [Related]
7. Life-threatening methylenetetrahydrofolate reductase (MTHFR) deficiency with extremely early onset: characterization of two novel mutations in compound heterozygous patients.
Forges T; Chery C; Audonnet S; Feillet F; Gueant JL
Mol Genet Metab; 2010 Jun; 100(2):143-8. PubMed ID: 20356773
[TBL] [Abstract][Full Text] [Related]
8. Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.
Burda P; Schäfer A; Suormala T; Rummel T; Bürer C; Heuberger D; Frapolli M; Giunta C; Sokolová J; Vlášková H; Kožich V; Koch HG; Fowler B; Froese DS; Baumgartner MR
Hum Mutat; 2015 Jun; 36(6):611-21. PubMed ID: 25736335
[TBL] [Abstract][Full Text] [Related]
9. Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
Huemer M; Mulder-Bleile R; Burda P; Froese DS; Suormala T; Zeev BB; Chinnery PF; Dionisi-Vici C; Dobbelaere D; Gökcay G; Demirkol M; Häberle J; Lossos A; Mengel E; Morris AA; Niezen-Koning KE; Plecko B; Parini R; Rokicki D; Schiff M; Schimmel M; Sewell AC; Sperl W; Spiekerkoetter U; Steinmann B; Taddeucci G; Trejo-Gabriel-Galán JM; Trefz F; Tsuji M; Vilaseca MA; von Kleist-Retzow JC; Walker V; Zeman J; Baumgartner MR; Fowler B
J Inherit Metab Dis; 2016 Jan; 39(1):115-24. PubMed ID: 26025547
[TBL] [Abstract][Full Text] [Related]
10. Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria.
Sibani S; Christensen B; O'Ferrall E; Saadi I; Hiou-Tim F; Rosenblatt DS; Rozen R
Hum Mutat; 2000; 15(3):280-7. PubMed ID: 10679944
[TBL] [Abstract][Full Text] [Related]
11. Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy.
Prasad AN; Rupar CA; Prasad C
Brain Dev; 2011 Oct; 33(9):758-69. PubMed ID: 21778025
[TBL] [Abstract][Full Text] [Related]
12. The 1316T>C missenses mutation in MTHFR contributes to MTHFR deficiency by targeting MTHFR to proteasome degradation.
Liu X; Li Y; Wang M; Wang X; Zhang L; Peng T; Liang W; Wang Z; Lu H
Aging (Albany NY); 2020 Dec; 13(1):1176-1185. PubMed ID: 33290257
[TBL] [Abstract][Full Text] [Related]
13. 5,10-Methylenetetrahydrofolate reductase deficiency with progressive polyneuropathy in an infant.
Tsuji M; Takagi A; Sameshima K; Iai M; Yamashita S; Shinbo H; Furuya N; Kurosawa K; Osaka H
Brain Dev; 2011 Jun; 33(6):521-4. PubMed ID: 20850942
[TBL] [Abstract][Full Text] [Related]
14. Mutational landscape screening of methylene tetrahydrofolate reductase to predict homocystinuria associated variants: An integrative computational approach.
Nagarajan H; Narayanaswamy S; Vetrivel U
Mutat Res; 2020; 819-820():111687. PubMed ID: 31968288
[TBL] [Abstract][Full Text] [Related]
15. Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.
Froese DS; Huemer M; Suormala T; Burda P; Coelho D; Guéant JL; Landolt MA; Kožich V; Fowler B; Baumgartner MR
Hum Mutat; 2016 May; 37(5):427-38. PubMed ID: 26872964
[TBL] [Abstract][Full Text] [Related]
16. Manifestations of neurological symptoms and thromboembolism in adults with MTHFR-deficiency.
Rommer PS; Zschocke J; Fowler B; Födinger M; Konstantopoulou V; Möslinger D; Stögmann E; Suess E; Baumgartner M; Auff E; Sunder-Plassmann G
J Neurol Sci; 2017 Dec; 383():123-127. PubMed ID: 29246599
[TBL] [Abstract][Full Text] [Related]
17. Severe scoliosis in a patient with severe methylenetetrahydrofolate reductase deficiency.
Munoz T; Patel J; Badilla-Porras R; Kronick J; Mercimek-Mahmutoglu S
Brain Dev; 2015 Jan; 37(1):168-70. PubMed ID: 24726568
[TBL] [Abstract][Full Text] [Related]
18. The thermolabile variant 677C-->T can further reduce activity when expressed in cis with severe mutations for human methylenetetrahydrofolate reductase.
Goyette P; Rozen R
Hum Mutat; 2000; 16(2):132-8. PubMed ID: 10923034
[TBL] [Abstract][Full Text] [Related]
19. Methylenetetrahydrofolate reductase deficiency: importance of early diagnosis.
Fattal-Valevski A; Bassan H; Korman SH; Lerman-Sagie T; Gutman A; Harel S
J Child Neurol; 2000 Aug; 15(8):539-43. PubMed ID: 10961793
[TBL] [Abstract][Full Text] [Related]
20. Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia.
Lossos A; Teltsh O; Milman T; Meiner V; Rozen R; Leclerc D; Schwahn BC; Karp N; Rosenblatt DS; Watkins D; Shaag A; Korman SH; Heyman SN; Gal A; Newman JP; Steiner-Birmanns B; Abramsky O; Kohn Y
JAMA Neurol; 2014 Jul; 71(7):901-4. PubMed ID: 24797679
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]