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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

68 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Almousa H, Lewis SA, Bakhtiari S, Nordlie SH, Pagnozzi A, Magee H, Efthymiou S, Heim JA, Cornejo P, Zaki MS, Anwar N, Maqbool S, Rahman F, Neilson DE, Vemuri A, Jin SC, Yang XR, Heidari A, van Gassen K, Trimouille A, Thauvin-Robinet C, Liu J, Bruel AL, Tomoum H, Shata MO, Hashem MO, Toosi MB, Karimiani EG, Yeşil G, Lingappa L, Baruah D, Ebrahimzadeh F, Van-Gils J, Faivre L, Zamani M, Galehdari H, Sadeghian S, Shariati G, Mohammad R, van der Smagt J, Qari A, Vincent JB, Innes AM, Dursun A, Özgül RK, Akar HT, Bilguvar K, Mignot C, Keren B, Raveli C, Burglen L, Afenjar A, Kaat LD, van Slegtenhorst M, Alkuraya F, Houlden H, Padilla-Lopez S, Maroofian R, Sacher M, Kruer MC. Almousa H, et al. Among authors: lingappa l. Brain. 2024 Jan 4;147(1):311-324. doi: 10.1093/brain/awad301. Brain. 2024. PMID: 37713627 Free PMC article.
GLRB is the third major gene of effect in hyperekplexia.
Chung SK, Bode A, Cushion TD, Thomas RH, Hunt C, Wood SE, Pickrell WO, Drew CJ, Yamashita S, Shiang R, Leiz S, Longardt AC, Raile V, Weschke B, Puri RD, Verma IC, Harvey RJ, Ratnasinghe DD, Parker M, Rittey C, Masri A, Lingappa L, Howell OW, Vanbellinghen JF, Mullins JG, Lynch JW, Rees MI. Chung SK, et al. Among authors: lingappa l. Hum Mol Genet. 2013 Mar 1;22(5):927-40. doi: 10.1093/hmg/dds498. Epub 2012 Nov 25. Hum Mol Genet. 2013. PMID: 23184146
Case Reports: Survival from Rabies: Case Series from India.
Mani RS, Damodar T, S D, Domala S, Gurung B, Jadhav V, Konanki R, Lingappa L, Loganathan SK, Salagare R, Tambi P. Mani RS, et al. Among authors: lingappa l. Am J Trop Med Hyg. 2019 Jan;100(1):165-169. doi: 10.4269/ajtmh.18-0711. Am J Trop Med Hyg. 2019. PMID: 30398147 Free PMC article.
Syndrome of fixed dystonia in adolescents--short term outcome in 4 cases.
Majumdar A, López-Casas J, Poo P, Colomer J, Galvan M, Lingappa L, Short C, Jardine PE, Fernández-Alvarez E. Majumdar A, et al. Among authors: lingappa l. Eur J Paediatr Neurol. 2009 Sep;13(5):466-72. doi: 10.1016/j.ejpn.2008.09.005. Epub 2008 Nov 7. Eur J Paediatr Neurol. 2009. PMID: 18996036
Clinical spectrum and outcome of children with deficiency of adenosine deaminase 2 (DADA2): multicentric experience from India.
Kumar S, Chugh A, Kumar SC, Punnen A, Bhat C, Patra P, Viswanathan V, Gupta A, Aggarwal M, Nayak AR, Lingappa L, Sharma J, Gupta N, Naranje P, Jana M, Bagri NK, Hari P, Ramanan AV. Kumar S, et al. Among authors: lingappa l. Rheumatology (Oxford). 2024 Sep 11:keae489. doi: 10.1093/rheumatology/keae489. Online ahead of print. Rheumatology (Oxford). 2024. PMID: 39259214
Association of Child Neurology-Indian Epilepsy Society Consensus Document on Parental Counseling of Children with Epilepsy.
Srivastava K, Sehgal R, Konanki R, Jain R, Sharma S, Mittal R; Association of Child Neurology (AOCN)-Indian Epilepsy Society (IES) SOLACE Expert Group; Hedge A, Aggarwal A, Chattopadhyay A, Patra B, Kaushik JS, Lingappa L, Sankhyan N, Kapoor P, Singhi P, Aneja S, Gulati S, Kanhere S, Rajadhyakshya S, Kalra V, Gupta VB, Udani V, Sudan Y, Mehendiratta MM, Tripathi M, Subhash GT, Bharti B, Rao S, Naseem M, Mukherjee S, Jain P, Khosla M, Shanbagh K, Jain D, Mansingh S, Yadav D, Singh C, Raina S, Srivastava S, Ahuja L, Kumar R, Vinayan KP, Jain R, Jain S, Mishra D. Srivastava K, et al. Among authors: lingappa l. Indian J Pediatr. 2019 Jul;86(7):608-616. doi: 10.1007/s12098-019-02946-z. Epub 2019 Jun 8. Indian J Pediatr. 2019. PMID: 31177510 Review.
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Accogli A, Lin SJ, Severino M, Kim SH, Huang K, Rocca C, Landsverk M, Zaki MS, Al-Maawali A, Srinivasan VM, Al-Thihli K, Schaefer GB, Davis M, Tonduti D, Doneda C, Marten LM, Mühlhausen C, Gomez M, Lamantea E, Mena R, Nizon M, Procaccio V, Begtrup A, Telegrafi A, Cui H, Schulz HL, Mohr J, Biskup S, Loos MA, Aráoz HV, Salpietro V, Keppen LD, Chitre M, Petree C, Raymond L, Vogt J, Sawyer LB, Basinger AA, Pedersen SV, Pearson TS, Grange DK, Lingappa L, McDunnah P, Horvath R, Cognè B, Isidor B, Hahn A, Gripp KW, Jafarnejad SM, Østergaard E, Prada CE, Ghezzi D, Gowda VK, Taylor RW, Sonenberg N, Houlden H, Sissler M, Varshney GK, Maroofian R. Accogli A, et al. Among authors: lingappa l. Genet Med. 2023 Nov;25(11):100938. doi: 10.1016/j.gim.2023.100938. Epub 2023 Jul 13. Genet Med. 2023. PMID: 37454282 Free PMC article.
68 results