Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1994 1
1995 1
1997 1
1998 1
2000 1
2001 2
2002 1
2003 4
2004 3
2005 2
2006 2
2007 3
2008 10
2009 13
2010 12
2011 9
2012 4
2013 12
2014 13
2015 8
2016 11
2017 15
2018 14
2019 11
2020 14
2021 28
2022 24
2023 25
2024 15

Text availability

Article attribute

Article type

Publication date

Search Results

220 results

Results by year

Filters applied: . Clear all
Page 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.
HTRA1-Related Cerebral Small Vessel Disease: A Review of the Literature.
Uemura M, Nozaki H, Kato T, Koyama A, Sakai N, Ando S, Kanazawa M, Hishikawa N, Nishimoto Y, Polavarapu K, Nalini A, Hanazono A, Kuzume D, Shindo A, El-Ghanem M, Abe A, Sato A, Yoshida M, Ikeuchi T, Mizuta I, Mizuno T, Onodera O. Uemura M, et al. Among authors: nalini a. Front Neurol. 2020 Jul 3;11:545. doi: 10.3389/fneur.2020.00545. eCollection 2020. Front Neurol. 2020. PMID: 32719647 Free PMC article. Review.
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
Polavarapu K, Sunitha B, Töpf A, Preethish-Kumar V, Thompson R, Vengalil S, Nashi S, Bardhan M, Sanka SB, Huddar A, Unnikrishnan G, Arunachal G, Girija MS, Porter A, Azuma Y, Lorenzoni PJ, Baskar D, Anjanappa RM, Keertipriya M, Padmanabh H, Harikrishna GV, Laurie S, Matalonga L, Horvath R, Nalini A, Lochmüller H. Polavarapu K, et al. Among authors: nalini a. Brain. 2024 Jan 4;147(1):281-296. doi: 10.1093/brain/awad315. Brain. 2024. PMID: 37721175
Respiratory Shoulder Synkinesis: A Rare Case Report.
Baskar D, Vengalil S, Nashi S, Kamble NL, Nalini A. Baskar D, et al. Among authors: nalini a. Ann Indian Acad Neurol. 2023 Jul-Aug;26(4):610-611. doi: 10.4103/aian.aian_235_23. Epub 2023 May 29. Ann Indian Acad Neurol. 2023. PMID: 37970296 Free PMC article. No abstract available.
Genomics of rare genetic diseases-experiences from India.
GUaRDIAN Consortium; Sivasubbu S, Scaria V. GUaRDIAN Consortium, et al. Hum Genomics. 2019 Sep 25;14(1):52. doi: 10.1186/s40246-019-0215-5. Hum Genomics. 2019. PMID: 31554517 Free PMC article. Review.
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.
Thymic Lesions in Myasthenia Gravis: A Clinicopathological Study from India.
Nishadham V, Bardhan M, Polavarapu K, Vengalil S, Nashi S, Menon D, Ganaraja VH, Preethish-Kumar V, Valasani RK, Huddar A, Unnikrishnan GK, Thomas A, Saravanan A, Kulanthaivelu K, Nalini A, Nandeesh BN. Nishadham V, et al. Among authors: nalini a. J Neuromuscul Dis. 2022;9(3):411-422. doi: 10.3233/JND-210785. J Neuromuscul Dis. 2022. PMID: 35431258
Case Report: Post-Chikungunya-Associated Myeloneuropathy.
Patwardhan A, Nalini A, Baishya PP, Kulanthaivelu K, Krishnareddy H, Dutta D, Chawla T, Chowdary RM, Yadav R, Vengalil S. Patwardhan A, et al. Among authors: nalini a. Am J Trop Med Hyg. 2021 Aug 23;105(4):942-945. doi: 10.4269/ajtmh.20-1277. Am J Trop Med Hyg. 2021. PMID: 34614478 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
220 results