Thakur S - Search Results

1

Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia.

Harlalka GV, McEntagart ME, Gupta N, Skrzypiec AE, Mucha MW, Chioza BA, Simpson MA, Sreekantan-Nair A, Pereira A, Günther S, Jahic A, Modarres H, Moore-Barton H, Trembath RC, Kabra M, Baple EL, Thakur S, Patton MA, Beetz C, Pawlak R, Crosby AH. Harlalka GV, et al. Among authors: thakur s. Hum Mutat. 2016 Nov;37(11):1157-1161. doi: 10.1002/humu.23060. Epub 2016 Aug 30. Hum Mutat. 2016. PMID: 27492651

2

Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure.

Beetz C, Johnson A, Schuh AL, Thakur S, Varga RE, Fothergill T, Hertel N, Bomba-Warczak E, Thiele H, Nürnberg G, Altmüller J, Saxena R, Chapman ER, Dent EW, Nürnberg P, Audhya A. Beetz C, et al. Among authors: thakur s. Proc Natl Acad Sci U S A. 2013 Mar 26;110(13):5091-6. doi: 10.1073/pnas.1217197110. Epub 2013 Mar 11. Proc Natl Acad Sci U S A. 2013. PMID: 23479643 Free PMC article. Clinical Trial.

3

Report of Two Novel Mutations in Indian Patients with Rothmund-Thomson Syndrome.

Yadav S, Thakur S, Kohlhase J, Bhari N, Kabra M, Gupta N. Yadav S, et al. Among authors: thakur s. J Pediatr Genet. 2019 Sep;8(3):163-167. doi: 10.1055/s-0039-1684017. Epub 2019 Apr 9. J Pediatr Genet. 2019. PMID: 31406625 Free PMC article.

4

Methylene Tetrahydrofolate Reductase Deficiency.

Kaur R, Correa ARE, Thakur S, Kabra M, Gupta N. Kaur R, et al. Among authors: thakur s. Indian J Pediatr. 2020 Nov;87(11):951-953. doi: 10.1007/s12098-020-03290-3. Epub 2020 May 26. Indian J Pediatr. 2020. PMID: 32451826

5

Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes.

Gupta D, Bijarnia-Mahay S, Kohli S, Saxena R, Puri RD, Shigematsu Y, Yamaguchi S, Sakamoto O, Gupta N, Kabra M, Thakur S, Deb R, Verma IC. Gupta D, et al. Among authors: thakur s. Genet Test Mol Biomarkers. 2016 Jul;20(7):373-82. doi: 10.1089/gtmb.2016.0017. Epub 2016 May 26. Genet Test Mol Biomarkers. 2016. PMID: 27227689

6

ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31).

Thakur S, Ishrie M, Saxena R, Danda S, Linda R, Viswabandya A, Verma IC. Thakur S, et al. Indian J Med Res. 2011 Oct;134(4):483-6. Indian J Med Res. 2011. PMID: 22089611 Free PMC article.

7

Mutation Analysis in Crigler-Najjar Syndrome Type II-Case Report and Literature Review.

Ranjan P, Kohli S, Saxena R, Thakur S. Ranjan P, et al. Among authors: thakur s. J Clin Exp Hepatol. 2011 Dec;1(3):204-6. doi: 10.1016/S0973-6883(11)60239-9. Epub 2012 Jan 2. J Clin Exp Hepatol. 2011. PMID: 25755387 Free PMC article.

8

Novel ATRX gene damaging missense mutation c.6740A>C segregates with profound to severe intellectual deficiency without alpha thalassaemia.

Bouazzi H, Thakur S, Trujillo C, Alwasiyah MK, Munnich A. Bouazzi H, et al. Among authors: thakur s. Indian J Med Res. 2016 Jan;143(1):43-8. doi: 10.4103/0971-5916.178589. Indian J Med Res. 2016. PMID: 26997013 Free PMC article.

9

Congenital hyperinsulinism caused by mutations in ABCC8 (SUR1) gene.

Thakur S, Flanagan SE, Ellard S, Verma IC. Thakur S, et al. Indian Pediatr. 2011 Sep;48(9):733-4. Indian Pediatr. 2011. PMID: 21992908

10

Utility of molecular studies in incontinentia pigmenti patients.

Thakur S, Puri RD, Kohli S, Saxena R, Verma IC. Thakur S, et al. Indian J Med Res. 2011 Apr;133(4):442-5. Indian J Med Res. 2011. PMID: 21537100 Free PMC article.

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