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Page 1
C9orf72 hexanucleotide repeat expansion in Indian patients with ALS: a common founder and its geographical predilection.
Shamim U, Ambawat S, Singh J, Thomas A, Pradeep-Chandra-Reddy C, Suroliya V, Uppilli B, Parveen S, Sharma P, Chanchal S, Nashi S, Preethish-Kumar V, Vengalil S, Polavarapu K, Keerthipriya M, Mahajan NP, Reddy N, Thomas PT, Sadasivan A, Warrier M, Seth M, Zahra S, Mathur A, Vibha D, Srivastava AK, Nalini A, Faruq M. Shamim U, et al. Among authors: nashi s. Neurobiol Aging. 2020 Apr;88:156.e1-156.e9. doi: 10.1016/j.neurobiolaging.2019.12.024. Epub 2020 Jan 3. Neurobiol Aging. 2020. PMID: 32035847
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
113 results