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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: nashi s. Eur J Neurol. 2021 Mar;28(3):992-1003. doi: 10.1111/ene.14616. Epub 2020 Nov 26. Eur J Neurol. 2021. PMID: 33124102
Intrafamilial phenotypic variations in familial cases of cervical flexion induced myelopathy/Hirayama disease.
Polavarapu K, Preethish-Kumar V, Nashi S, Vengalil S, Prasad C, Bhattacharya K, Verma A, Pruthi N, Bhat DI, Nalini A. Polavarapu K, et al. Among authors: nashi s. Amyotroph Lateral Scler Frontotemporal Degener. 2018 Feb;19(1-2):38-49. doi: 10.1080/21678421.2017.1374977. Epub 2017 Sep 22. Amyotroph Lateral Scler Frontotemporal Degener. 2018. PMID: 28938856
CARASIL families from India with 3 novel null mutations in the HTRA1 gene.
Preethish-Kumar V, Nozaki H, Tiwari S, Vengalil S, Bhat M, Prasad C, Onodera O, Uemura M, Doniparthi S, Saini J, Nashi S, Polavarapu K, Nalini A. Preethish-Kumar V, et al. Among authors: nashi s. Neurology. 2017 Dec 5;89(23):2392-2394. doi: 10.1212/WNL.0000000000004710. Epub 2017 Nov 3. Neurology. 2017. PMID: 29101275 No abstract available.
Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness.
Owen D, Töpf A, Preethish-Kumar V, Lorenzoni PJ, Vroling B, Scola RH, Dias-Tosta E, Geraldo A, Polavarapu K, Nashi S, Cox D, Evangelista T, Dawson J, Thompson R, Senderek J, Laurie S, Beltran S, Gut M, Gut I, Nalini A, Lochmüller H. Owen D, et al. Among authors: nashi s. Am J Med Genet A. 2018 Jul;176(7):1594-1601. doi: 10.1002/ajmg.a.38707. Epub 2018 Apr 28. Am J Med Genet A. 2018. PMID: 29704306
Caregiver burden and quality of life of patients with amyotrophic lateral sclerosis in India.
Thomas PT, Warrier MG, Sadasivan A, Balasubramanium B, Preethish-Kumar V, Nashi S, Polavarapu K, Krishna G, Vengalil S, Rajaram P, Nalini A. Thomas PT, et al. Among authors: nashi s. Amyotroph Lateral Scler Frontotemporal Degener. 2018 Nov;19(7-8):606-610. doi: 10.1080/21678421.2018.1482353. Epub 2018 Jul 24. Amyotroph Lateral Scler Frontotemporal Degener. 2018. PMID: 30039719
113 results