Muthusamy B - Search Results

1

KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature.

Kumar K, Bellad A, Prasad P, Girimaji SC, Muthusamy B. Kumar K, et al. Among authors: muthusamy b. BMC Med Genet. 2020 Jun 26;21(1):136. doi: 10.1186/s12881-020-01074-2. BMC Med Genet. 2020. PMID: 32590954 Free PMC article. Review.

2

Next-Generation Sequencing Reveals Novel Mutations in X-linked Intellectual Disability.

Muthusamy B, Selvan LDN, Nguyen TT, Manoj J, Stawiski EW, Jaiswal BS, Wang W, Raja R, Ramprasad VL, Gupta R, Murugan S, Kadandale JS, Prasad TSK, Reddy K, Peterson A, Pandey A, Seshagiri S, Girimaji SC, Gowda H. Muthusamy B, et al. OMICS. 2017 May;21(5):295-303. doi: 10.1089/omi.2017.0009. OMICS. 2017. PMID: 28481730 Free PMC article.

3

Exome sequencing reveals a novel splice site variant in HUWE1 gene in patients with suspected Say-Meyer syndrome.

Muthusamy B, Nguyen TT, Bandari AK, Basheer S, Selvan LDN, Chandel D, Manoj J, Gayen S, Seshagiri S, Chandra Girimaji S, Pandey A. Muthusamy B, et al. Eur J Med Genet. 2020 Jan;63(1):103635. doi: 10.1016/j.ejmg.2019.02.007. Epub 2019 Feb 21. Eur J Med Genet. 2020. PMID: 30797980 Free PMC article.

4

A Novel Missense Variant in PHF6 Gene Causing Börjeson-Forssman-Lehman Syndrome.

Bellad A, Bandari AK, Pandey A, Girimaji SC, Muthusamy B. Bellad A, et al. Among authors: muthusamy b. J Mol Neurosci. 2020 Sep;70(9):1403-1409. doi: 10.1007/s12031-020-01560-5. Epub 2020 May 12. J Mol Neurosci. 2020. PMID: 32399860

5

A Novel LINS1 Truncating Mutation in Autosomal Recessive Nonsyndromic Intellectual Disability.

Muthusamy B, Bellad A, Prasad P, Bandari AK, Bhuvanalakshmi G, Kiragasur RM, Girimaj SC, Pandey A. Muthusamy B, et al. Front Psychiatry. 2020;11:354. doi: 10.3389/fpsyt.2020.00354. Epub 2020 May 18. Front Psychiatry. 2020. PMID: 32499722 Free PMC article.

6

Shukla-Vernon Syndrome: A Second Family with a Novel Variant in the BCORL1 Gene.

Muthusamy B, Bellad A, Girimaji SC, Pandey A. Muthusamy B, et al. Genes (Basel). 2021 Mar 22;12(3):452. doi: 10.3390/genes12030452. Genes (Basel). 2021. PMID: 33810051 Free PMC article.

7

A novel loss of function mutation in adaptor protein complex 4, subunit mu-1 causing autosomal recessive spastic paraplegia 50.

Bellad A, Girimaji SC, Muthusamy B. Bellad A, et al. Among authors: muthusamy b. Neurol Sci. 2021 Dec;42(12):5311-5319. doi: 10.1007/s10072-021-05262-7. Epub 2021 Apr 21. Neurol Sci. 2021. PMID: 33884525

8

PLA2G6-associated neurodegeneration in four different populations-case series and literature review.

Hanna Al-Shaikh R, Milanowski LM, Holla VV, Kurihara K, Yadav R, Kamble N, Muthusamy B, Bellad A, Koziorowski D, Szlufik S, Hoffman-Zacharska D, Fujioka S, Tsuboi Y, Ross OA, Wierenga K, Uitti RJ, Wszolek Z, Pal PK. Hanna Al-Shaikh R, et al. Among authors: muthusamy b. Parkinsonism Relat Disord. 2022 Aug;101:66-74. doi: 10.1016/j.parkreldis.2022.06.016. Epub 2022 Jun 30. Parkinsonism Relat Disord. 2022. PMID: 35803092 Review.

9

Loss of function variants in L2HGDH gene causing L-2-hydroxyglutaric aciduria.

Bellad A, Holla VV, Kumari R, Kamble N, Yadav R, Pandey A, Pal PK, Muthusamy B. Bellad A, et al. Among authors: muthusamy b. Acta Neurol Belg. 2023 Dec;123(6):2315-2323. doi: 10.1007/s13760-023-02318-7. Epub 2023 Jun 28. Acta Neurol Belg. 2023. PMID: 37378753

10

Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17.

Phulpagar P, Holla VV, Tomar D, Kamble N, Yadav R, Pal PK, Muthusamy B. Phulpagar P, et al. Among authors: muthusamy b. J Hum Genet. 2023 Dec;68(12):859-866. doi: 10.1038/s10038-023-01195-5. Epub 2023 Sep 26. J Hum Genet. 2023. PMID: 37752213

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