Rady PL - Search Results

1

DOOR syndrome: deficiency of E1 component of the 2-oxoglutarate dehydrogenase complex.

Surendran S, Michals-Matalon K, Krywawych S, Qazi QH, Tuchman R, Rady PL, Tyring SK, Matalon R. Surendran S, et al. Among authors: rady pl. Am J Med Genet. 2002 Dec 15;113(4):371-4. doi: 10.1002/ajmg.b.10804. Am J Med Genet. 2002. PMID: 12457410

2

Genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) in ethnic populations in Texas; a report of a novel MTHFR polymorphic site, G1793A.

Rady PL, Szucs S, Grady J, Hudnall SD, Kellner LH, Nitowsky H, Tyring SK, Matalon RK. Rady PL, et al. Am J Med Genet. 2002 Jan 15;107(2):162-8. doi: 10.1002/ajmg.10122. Am J Med Genet. 2002. PMID: 11807892

3

Founder mutation R245H of Sanfilippo syndrome type A in the Cayman Islands.

Rady PL, Surendran S, Vu AT, Hawkins JC, Michals-Matalon K, Tyring SK, Merren J, Kumar AK, Matalon R. Rady PL, et al. Genet Test. 2002 Fall;6(3):211-5. doi: 10.1089/109065702761403388. Genet Test. 2002. PMID: 12490062

4

Expression of glutamate transporter, GABRA6, serine proteinase inhibitor 2 and low levels of glutamate and GABA in the brain of knock-out mouse for Canavan disease.

Surendran S, Rady PL, Michals-Matalon K, Quast MJ, Rassin DK, Campbell GA, Ezell EL, Wei J, Tyring SK, Szucs S, Matalon R. Surendran S, et al. Among authors: rady pl. Brain Res Bull. 2003 Aug 30;61(4):427-35. doi: 10.1016/s0361-9230(03)00158-8. Brain Res Bull. 2003. PMID: 12909286

5

Methylenetetrahydrofolate reductase (MTHFR): the incidence of mutations C677T and A1298C in the Ashkenazi Jewish population.

Rady PL, Tyring SK, Hudnall SD, Vargas T, Kellner LH, Nitowsky H, Matalon RK. Rady PL, et al. Am J Med Genet. 1999 Oct 8;86(4):380-4. doi: 10.1002/(sici)1096-8628(19991008)86:4<380::aid-ajmg13>3.0.co;2-9. Am J Med Genet. 1999. PMID: 10494095

6

Malonyl CoA decarboxylase deficiency: C to T transition in intron 2 of the MCD gene.

Surendran S, Sacksteder KA, Gould SJ, Coldwell JG, Rady PL, Tyring SK, Matalon R. Surendran S, et al. Among authors: rady pl. J Neurosci Res. 2001 Sep 15;65(6):591-4. doi: 10.1002/jnr.1189. J Neurosci Res. 2001. PMID: 11550227

7

Effect of interferon therapy on human papillomavirus copy number in patients with Condyloma acuminatum.

Arany I, Rady P, Tyring SK. Arany I, et al. Am J Med Sci. 1995 Jul;310(1):14-8. doi: 10.1097/00000441-199507000-00006. Am J Med Sci. 1995. PMID: 7541607

8

Adeno-associated virus-mediated aspartoacylase gene transfer to the brain of knockout mouse for canavan disease.

Matalon R, Surendran S, Rady PL, Quast MJ, Campbell GA, Matalon KM, Tyring SK, Wei J, Peden CS, Ezell EL, Muzyczka N, Mandel RJ. Matalon R, et al. Among authors: rady pl. Mol Ther. 2003 May;7(5 Pt 1):580-7. doi: 10.1016/s1525-0016(03)00066-2. Mol Ther. 2003. PMID: 12718900 Free article.

9

High level of orexin A observed in the phenylketonuria mouse brain is due to the abnormal expression of prepro-orexin.

Surendran S, Rady PL, Szucs S, Michals-Matalon K, Tyring SK, Matalon R. Surendran S, et al. Among authors: rady pl. Biochem Biophys Res Commun. 2004 Apr 30;317(2):522-6. doi: 10.1016/j.bbrc.2004.03.079. Biochem Biophys Res Commun. 2004. PMID: 15063788

10

Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan disease.

Rady PL, Penzien JM, Vargas T, Tyring SK, Matalon R. Rady PL, et al. Eur J Paediatr Neurol. 2000;4(1):27-30. doi: 10.1053/ejpn.1999.0256. Eur J Paediatr Neurol. 2000. PMID: 10701101

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