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Genotype-phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India.
Nashi S, Polavarapu K, Bardhan M, Anjanappa RM, Preethish-Kumar V, Vengalil S, Padmanabha H, Geetha TS, Prathyusha PV, Ramprasad V, Joshi A, Chawla T, Unnikrishnan G, Sharma P, Huddar A, Uppilli B, Thomas A, Baskar D, Mathew S, Menon D, Arunachal G, Faruq M, Thangaraj K, Nalini A. Nashi S, et al. Among authors: joshi a. Neurogenetics. 2023 Jan;24(1):43-53. doi: 10.1007/s10048-022-00707-3. Epub 2022 Dec 29. Neurogenetics. 2023. PMID: 36580222
An Indian child with Coats plus syndrome due to mutations in STN1.
Passi GR, Shamim U, Rathore S, Joshi A, Mathur A, Parveen S, Sharma P, Crow YJ, Faruq M. Passi GR, et al. Among authors: joshi a. Am J Med Genet A. 2020 Sep;182(9):2139-2144. doi: 10.1002/ajmg.a.61737. Epub 2020 Jul 6. Am J Med Genet A. 2020. PMID: 32627942
A Novel L1 Linker Mutation in DES Resulted in Total Absence of Protein.
Santhoshkumar R, Preethish-Kumar V, Polavarapu K, Reghunathan D, Chaudhari S, Satyamoorthy K, Vengalil S, Nashi S, Faruq M, Joshi A, Atchayaram N, Narayanappa G. Santhoshkumar R, et al. Among authors: joshi a. J Mol Neurosci. 2021 Dec;71(12):2468-2473. doi: 10.1007/s12031-021-01856-0. Epub 2021 Jun 9. J Mol Neurosci. 2021. PMID: 34106405
A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients.
Polavarapu K, Mathur A, Joshi A, Nashi S, Preethish-Kumar V, Bardhan M, Sharma P, Parveen S, Seth M, Vengalil S, Chawla T, Shingavi L, Shamim U, Nayak S, Vivekanand A, Töpf A, Roos A, Horvath R, Lochmüller H, Nandeesh B, Arunachal G, Nalini A, Faruq M. Polavarapu K, et al. Among authors: joshi a. Neurogenetics. 2021 Oct;22(4):271-285. doi: 10.1007/s10048-021-00658-1. Epub 2021 Aug 1. Neurogenetics. 2021. PMID: 34333724
Next Generation Sequencing and Cytogenetic Based Evaluation of Indian Pierre Robin Sequence Families Reveals CNV Regions of Modest Effect and a Novel LOXL3 Mutation.
Sood A, Shamim U, Kharbanda OP, Kabra M, Gupta N, Mathur A, Joshi A, Parveen S, Zahra S, Sharma P, Seth M, Khan A, Faruq M, Mishra D. Sood A, et al. Among authors: joshi a. Cleft Palate Craniofac J. 2022 Nov;59(11):1329-1339. doi: 10.1177/10556656211052781. Epub 2021 Nov 17. Cleft Palate Craniofac J. 2022. PMID: 34787502
4,548 results