Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 135

1.

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 1;71(7):901-4. doi: 10.1001/jamaneurol.2014.116.

PMID:
24797679
2.

Severe 5,10-methylenetetrahydrofolate reductase deficiency: a rare, treatable cause of complicated hereditary spastic paraplegia.

Perna A, Masciullo M, Modoni A, Cellini E, Parrini E, Ricci E, Donati AM, Silvestri G.

Eur J Neurol. 2018 Mar;25(3):602-605. doi: 10.1111/ene.13557. Epub 2018 Jan 30.

PMID:
29284203
3.

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. doi: 10.1016/j.pediatrneurol.2014.04.005. Epub 2014 Apr 13.

PMID:
25079578
4.

Adult-onset severe methylenetetrahydrofolate reductase deficiency characterized by reversible spastic paraplegia with a novel mutation.

Lin N, Jiang N, Dai Y, Gao J, Wang L.

Neurol Sci. 2016 Oct;37(10):1735-7. doi: 10.1007/s10072-016-2580-3. Epub 2016 Apr 27. No abstract available.

PMID:
27118298
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. doi: 10.1001/jamaneurol.2013.4915. Review.

PMID:
24323041
6.

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. doi: 10.1016/j.braindev.2010.08.013. Epub 2010 Sep 20.

PMID:
20850942
7.

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 15;383:123-127. doi: 10.1016/j.jns.2017.10.035. Epub 2017 Nov 6.

PMID:
29246599
8.

A founder mutation causing a severe methylenetetrahydrofolate reductase (MTHFR) deficiency in Bukharian Jews.

Ben-Shachar S, Zvi T, Rolfs A, Breda Klobus A, Yaron Y, Bar-Shira A, Orr-Urtreger A.

Mol Genet Metab. 2012 Nov;107(3):608-10. doi: 10.1016/j.ymgme.2012.08.011. Epub 2012 Aug 18.

PMID:
22947400
9.

Rapidly progressive psychotic symptoms triggered by infection in a patient with methylenetetrahydrofolate reductase deficiency: a case report.

Iida S, Nakamura M, Asayama S, Kunieda T, Kaneko S, Osaka H, Kusaka H.

BMC Neurol. 2017 Feb 28;17(1):47. doi: 10.1186/s12883-017-0827-0.

10.

Pearls & oy-sters: familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency.

Cappuccio G, Cozzolino C, Frisso G, Romanelli R, Parenti G, D'Amico A, Carotenuto B, Salvatore F, Del Giudice E.

Neurology. 2014 Jul 15;83(3):e41-4. doi: 10.1212/WNL.0000000000000591. No abstract available.

PMID:
25024447
11.

Severe methylenetetrahydrofolate reductase deficiency in mice results in behavioral anomalies with morphological and biochemical changes in hippocampus.

Jadavji NM, Deng L, Leclerc D, Malysheva O, Bedell BJ, Caudill MA, Rozen R.

Mol Genet Metab. 2012 Jun;106(2):149-59. doi: 10.1016/j.ymgme.2012.03.020. Epub 2012 Apr 4.

PMID:
22521626
12.

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. doi: 10.1007/s10545-015-9860-6. Epub 2015 May 30.

13.

Acute leukoencephalopathy possibly induced by phenytoin intoxication in an adult patient with methylenetetrahydrofolate reductase deficiency.

Arai M, Osaka H.

Epilepsia. 2011 Jul;52(7):e58-61. doi: 10.1111/j.1528-1167.2011.03064.x. Epub 2011 Apr 11.

14.

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. doi: 10.1002/humu.22970. Epub 2016 Mar 18.

PMID:
26872964
15.

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. doi: 10.1016/j.braindev.2014.03.003. Epub 2014 Apr 13.

PMID:
24726568
16.

[Posterior-predominant leukoencephalopathy which was caused by methylenetetrahydrofolate reductase deficiency and successfully treated with folic acid].

Tamura A, Sasaki R, Kagawa K, Nakatani K, Osaka H, Tomimoto H.

Rinsho Shinkeigaku. 2014;54(3):200-6. Japanese.

PMID:
24705833
17.

Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy.

Prasad AN, Rupar CA, Prasad C.

Brain Dev. 2011 Oct;33(9):758-69. doi: 10.1016/j.braindev.2011.05.014. Epub 2011 Jul 22. Review.

PMID:
21778025
18.

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. doi: 10.1002/humu.22779. Epub 2015 Apr 27.

PMID:
25736335
19.

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. doi: 10.1007/s10545-016-9987-0. Epub 2016 Oct 14.

PMID:
27743313
20.

Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes.

Gales A, Masingue M, Millecamps S, Giraudier S, Grosliere L, Adam C, Salim C, Navarro V, Nadjar Y.

Orphanet J Rare Dis. 2018 Feb 1;13(1):29. doi: 10.1186/s13023-018-0767-9. Review.

Supplemental Content

Support Center