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Cerebellar Ataxia in Adults with SQSTM1-Associated Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Spectrum of Disorders.
Mishra B, Rajan R, Gupta A, Faruq M, Shamim U, Parveen S, Garg A, Tripathi M, Vishnu VY, Singh MB, Bhatia R, Srivastava P. Mishra B, et al. Among authors: parveen s. Mov Disord Clin Pract. 2021 Apr 28;8(5):800-802. doi: 10.1002/mdc3.13218. eCollection 2021 Jul. Mov Disord Clin Pract. 2021. PMID: 34307757 Free PMC article. No abstract available.
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: parveen s. 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
Frequency spectrum of rare and clinically relevant markers in multiethnic Indian populations (ClinIndb): A resource for genomic medicine in India.
Narang A, Uppilli B, Vivekanand A, Naushin S, Yadav A, Singhal K, Shamim U, Sharma P, Zahra S, Mathur A, Seth M, Parveen S, Vats A, Hillman S, Dolma P, Varma B, Jain V; TRISUTRA Ayurgenomics Consortium; Prasher B, Sengupta S, Mukerji M, Faruq M. Narang A, et al. Among authors: parveen s. Hum Mutat. 2020 Nov;41(11):1833-1847. doi: 10.1002/humu.24102. Epub 2020 Sep 9. Hum Mutat. 2020. PMID: 32906206
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: parveen s. Neurogenetics. 2021 Oct;22(4):271-285. doi: 10.1007/s10048-021-00658-1. Epub 2021 Aug 1. Neurogenetics. 2021. PMID: 34333724
868 results