Nalini A - Search Results

1

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.

Pellerin D, Danzi MC, Wilke C, Renaud M, Fazal S, Dicaire MJ, Scriba CK, Ashton C, Yanick C, Beijer D, Rebelo A, Rocca C, Jaunmuktane Z, Sonnen JA, Larivière R, Genís D, Molina Porcel L, Choquet K, Sakalla R, Provost S, Robertson R, Allard-Chamard X, Tétreault M, Reiling SJ, Nagy S, Nishadham V, Purushottam M, Vengalil S, Bardhan M, Nalini A, Chen Z, Mathieu J, Massie R, Chalk CH, Lafontaine AL, Evoy F, Rioux MF, Ragoussis J, Boycott KM, Dubé MP, Duquette A, Houlden H, Ravenscroft G, Laing NG, Lamont PJ, Saporta MA, Schüle R, Schöls L, La Piana R, Synofzik M, Zuchner S, Brais B. Pellerin D, et al. Among authors: nalini a. N Engl J Med. 2023 Jan 12;388(2):128-141. doi: 10.1056/NEJMoa2207406. Epub 2022 Dec 14. N Engl J Med. 2023. PMID: 36516086 Free PMC article.

2

Reverse split hand syndrome: Dissociated intrinsic hand muscle atrophy pattern in Hirayama disease/brachial monomelic amyotrophy.

Singh RJ, Preethish-Kumar V, Polavarapu K, Vengalil S, Prasad C, Nalini A. Singh RJ, et al. Among authors: nalini a. Amyotroph Lateral Scler Frontotemporal Degener. 2017 Feb;18(1-2):10-16. doi: 10.1080/21678421.2016.1223140. Epub 2016 Aug 30. Amyotroph Lateral Scler Frontotemporal Degener. 2017. PMID: 27575868

3

Ankle-Foot Orthosis in Duchenne Muscular Dystrophy: A 4 year Experience in a Multidisciplinary Neuromuscular Disorders Clinic.

Gupta A, Nalini A, Arya SP, Vengalil S, Khanna M, Krishnan R, Taly AB. Gupta A, et al. Among authors: nalini a. Indian J Pediatr. 2017 Mar;84(3):211-215. doi: 10.1007/s12098-016-2251-7. Epub 2016 Nov 5. Indian J Pediatr. 2017. PMID: 27815810

4

Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort.

Vengalil S, Preethish-Kumar V, Polavarapu K, Mahadevappa M, Sekar D, Purushottam M, Thomas PT, Nashi S, Nalini A. Vengalil S, et al. Among authors: nalini a. J Clin Neurol. 2017 Jan;13(1):91-97. doi: 10.3988/jcn.2017.13.1.91. J Clin Neurol. 2017. PMID: 28079318 Free PMC article.

5

Ventral longitudinal intraspinal fluid collection: Rare presentation as brachial amyotrophy and intracranial hypotension.

Preethish-Kumar V, Vengalil S, Tiwari S, Polavarapu K, Netravathi M, Ramalingaiah AH, Nalini A. Preethish-Kumar V, et al. Among authors: nalini a. J Spinal Cord Med. 2019 Jan;42(1):45-50. doi: 10.1080/10790268.2017.1314901. Epub 2017 Apr 12. J Spinal Cord Med. 2019. PMID: 28402198 Free PMC article.

6

MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India.

Deepha S, Vengalil S, Preethish-Kumar V, Polavarapu K, Nalini A, Gayathri N, Purushottam M. Deepha S, et al. Among authors: nalini a. BMC Med Genet. 2017 Jun 13;18(1):67. doi: 10.1186/s12881-017-0431-6. BMC Med Genet. 2017. PMID: 28610567 Free PMC article.

7

Fatty acid oxidation defects presenting as primary myopathy and prominent dropped head syndrome.

Vengalil S, Preethish-Kumar V, Polavarapu K, Christopher R, Gayathri N, Natarajan A, Manjunath M, Nashi S, Prasad C, Nalini A. Vengalil S, et al. Among authors: nalini a. Neuromuscul Disord. 2017 Nov;27(11):986-996. doi: 10.1016/j.nmd.2017.08.004. Epub 2017 Aug 24. Neuromuscul Disord. 2017. PMID: 28927828

8

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: nalini a. 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

9

Natural history of a cohort of Duchenne muscular dystrophy children seen between 1998 and 2014: An observational study from South India.

Singh RJ, Manjunath M, Preethish-Kumar V, Polavarapu K, Vengalil S, Thomas PT, Thennarasu K, Gayathri N, Sekar D, Nashi S, Nalini A. Singh RJ, et al. Among authors: nalini a. Neurol India. 2018 Jan-Feb;66(1):77-82. doi: 10.4103/0028-3886.222881. Neurol India. 2018. PMID: 29322964 Free article.

10

GNE myopathy - A cross-sectional study on spatio-temporal gait characteristics.

Gomez G, Khanna M, Gupta A, Nalini A, Thennarasu K, Nashi S, Polavarapu K, Vengalil S. Gomez G, et al. Among authors: nalini a. Neuromuscul Disord. 2019 Dec;29(12):961-967. doi: 10.1016/j.nmd.2019.11.003. Epub 2019 Nov 8. Neuromuscul Disord. 2019. PMID: 31787465

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