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Page 1
Neuromuscular disease genetics in under-represented populations: increasing data diversity.
Wilson LA, Macken WL, Perry LD, Record CJ, Schon KR, Frezatti RSS, Raga S, Naidu K, Köken ÖY, Polat I, Kapapa MM, Dominik N, Efthymiou S, Morsy H, Nel M, Fassad MR, Gao F, Patel K, Schoonen M, Bisschoff M, Vorster A, Jonvik H, Human R, Lubbe E, Nonyane M, Vengalil S, Nashi S, Srivastava K, Lemmers RJLF, Reyaz A, Mishra R, Töpf A, Trainor CI, Steyn EC, Mahungu AC, van der Vliet PJ, Ceylan AC, Hiz AS, Çavdarlı B, Semerci Gündüz CN, Ceylan GG, Nagappa M, Tallapaka KB, Govindaraj P, van der Maarel SM, Narayanappa G, Nandeesh BN, Wa Somwe S, Bearden DR, Kvalsund MP, Ramdharry GM, Oktay Y, Yiş U, Topaloğlu H, Sarkozy A, Bugiardini E, Henning F, Wilmshurst JM, Heckmann JM, McFarland R, Taylor RW, Smuts I, van der Westhuizen FH, Sobreira CFDR, Tomaselli PJ, Marques W Jr, Bhatia R, Dalal A, Srivastava MVP, Yareeda S, Nalini A, Vishnu VY, Thangaraj K, Straub V, Horvath R, Chinnery PF, Pitceathly RDS, Muntoni F, Houlden H, Vandrovcova J, Reilly MM, Hanna MG. Wilson LA, et al. Among authors: nalini a. Brain. 2023 Dec 1;146(12):5098-5109. doi: 10.1093/brain/awad254. Brain. 2023. PMID: 37516995 Free PMC article.
Whole-exome analyses of congenital muscular dystrophy and congenital myopathy patients from India reveal a wide spectrum of known and novel mutations.
Sanga S, Ghosh A, Kumar K, Polavarapu K, Preethish-Kumar V, Vengalil S, Nashi S, Bardhan M, Arunachal G, Raju S, Gayathri N, Biswas NK, Chakrabarti S, Nalini A, Roy S, Acharya M. Sanga S, et al. Among authors: nalini a. Eur J Neurol. 2021 Mar;28(3):992-1003. doi: 10.1111/ene.14616. Epub 2020 Nov 26. Eur J Neurol. 2021. PMID: 33124102
Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies.
Chen Z, Maroofian R, Başak AN, Shingavi L, Karakaya M, Efthymiou S, Gustavsson EK, Meier L, Polavarapu K, Vengalil S, Preethish-Kumar V, Nandeesh BN, Gökçe Güneş N, Akan O, Candan F, Schrank B, Zuchner S, Murphy D, Kapoor M, Ryten M, Wirth B, Reilly MM, Nalini A, Houlden H, Sarraf P. Chen Z, et al. Among authors: nalini a. Eur J Neurol. 2021 Apr;28(4):1344-1355. doi: 10.1111/ene.14649. Epub 2020 Dec 17. Eur J Neurol. 2021. PMID: 33220101
Nemaline Rod/Cap Myopathy Due to Novel Homozygous MYPN Mutations: The First Report from South Asia and Comprehensive Literature Review.
Polavarapu K, Bardhan M, Anjanappa RM, Vengalil S, Preethish-Kumar V, Shingavi L, Chawla T, Nashi S, Mohan D, Arunachal G, Geetha TS, Ramprasad V, Nalini A. Polavarapu K, et al. Among authors: nalini a. J Clin Neurol. 2021 Jul;17(3):409-418. doi: 10.3988/jcn.2021.17.3.409. J Clin Neurol. 2021. PMID: 34184449 Free PMC article.
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: nalini a. Neurogenetics. 2021 Oct;22(4):271-285. doi: 10.1007/s10048-021-00658-1. Epub 2021 Aug 1. Neurogenetics. 2021. PMID: 34333724
Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C.
Bardhan M, Anjanappa RM, Polavarapu K, Preethish-Kumar V, Vengalil S, Nashi S, Sanga S, Padmanabh H, Valasani RK, Nishadham V, Keerthipriya M, Geetha TS, Ramprasad V, Arunachal G, Thomas PT, Acharya M, Nalini A. Bardhan M, et al. Among authors: nalini a. Neurogenetics. 2022 Jul;23(3):187-202. doi: 10.1007/s10048-022-00690-9. Epub 2022 Apr 13. Neurogenetics. 2022. PMID: 35416532
PET-MRI in idiopathic inflammatory myositis: a comparative study of clinical and immunological markers with imaging findings.
Girija MS, Tiwari R, Vengalil S, Nashi S, Preethish-Kumar V, Polavarapu K, Kulanthaivelu K, Arbind A, Bardhan M, Huddar A, Unnikrishnan G, Kiran VR, Chawla T, Nandeesh B, Nagaraj C, Nalini A. Girija MS, et al. Among authors: nalini a. Neurol Res Pract. 2022 Oct 10;4(1):49. doi: 10.1186/s42466-022-00213-9. Neurol Res Pract. 2022. PMID: 36210472 Free PMC article.
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: nalini a. Neurogenetics. 2023 Jan;24(1):43-53. doi: 10.1007/s10048-022-00707-3. Epub 2022 Dec 29. Neurogenetics. 2023. PMID: 36580222
219 results