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Page 1
Infantile-Onset Epileptic Encephalopathy - A Treatable Cause.
Jinka DR, Lingappa L, Konanki R. Jinka DR, et al. Among authors: lingappa l. Ann Indian Acad Neurol. 2024 Sep 1;27(5):593-595. doi: 10.4103/aian.aian_3_24. Epub 2024 Oct 21. Ann Indian Acad Neurol. 2024. PMID: 39428912 Free PMC article. No abstract available.
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
KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature.
Yoganathan S, Whitney R, Thomas M, Danda S, Chettali AM, Prasad AN, Farhan SMK, AlSowat D, Abukhaled M, Aldhalaan H, Gowda VK, Kinhal UV, Bylappa AY, Konanki R, Lingappa L, Parchuri BM, Appendino JP, Scantlebury MH, Cunningham J, Hadjinicolaou A, El Achkar CM, Kamate M, Menon RN, Jose M, Riordan G, Kannan L, Jain V, Manokaran RK, Chau V, Donner EJ, Costain G, Minassian BA, Jain P. Yoganathan S, et al. Among authors: lingappa l. Epilepsia. 2024 Mar;65(3):709-724. doi: 10.1111/epi.17880. Epub 2024 Jan 17. Epilepsia. 2024. PMID: 38231304
Neurocognitive Profile and 18 F-Fluorodeoxyglucose Positron Emission Tomography Brain Imaging Correlation in Children with Electrical Status Epilepticus during Sleep.
Srivastava MK, Shaik AJ, Yareeda S, Nallapareddy K, Lingappa L, Moturi P, Gaddamonugu P, Kandadai RM, Borgohain R. Srivastava MK, et al. Among authors: lingappa l. World J Nucl Med. 2023 Jun 27;22(3):174-182. doi: 10.1055/s-0042-1757284. eCollection 2023 Sep. World J Nucl Med. 2023. PMID: 37854089 Free PMC article.
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.
WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy.
Strauss KA, Carson VJ, Bolettieri E, Everett M, Bollinger A, Bowser LE, Beiler K, Young M, Edvardson S, Fraenkel N, D'Amico A, Bertini E, Lingappa L, Chowdhury D, Lowes LP, Iammarino M, Alfano LN, Brigatti KW. Strauss KA, et al. Among authors: lingappa l. Ann Clin Transl Neurol. 2023 Nov;10(11):1972-1984. doi: 10.1002/acn3.51884. Epub 2023 Aug 25. Ann Clin Transl Neurol. 2023. PMID: 37632133 Free PMC article.
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.
67 results