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Page 1
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Lischka A, Eggermann K, Record CJ, Dohrn MF, Laššuthová P, Kraft F, Begemann M, Dey D, Eggermann T, Beijer D, Šoukalová J, Laura M, Rossor AM, Mazanec R, Van Lent J, Tomaselli PJ, Ungelenk M, Debus KY, Feely SME, Gläser D, Jagadeesh S, Martin M, Govindaraj GM, Singhi P, Baineni R, Biswal N, Ibarra-Ramírez M, Bonduelle M, Gess B, Romero Sánchez J, Suthar R, Udani V, Nalini A, Unnikrishnan G, Marques W Junior, Mercier S, Procaccio V, Bris C, Suresh B, Reddy V, Skorupinska M, Bonello-Palot N, Mochel F, Dahl G, Sasidharan K, Devassikutty FM, Nampoothiri S, Rodovalho Doriqui MJ, Müller-Felber W, Vill K, Haack TB, Dufke A, Abele M, Stucka R, Siddiqi S, Ullah N, Spranger S, Chiabrando D, Bolgül BS, Parman Y, Seeman P, Lampert A, Schulz JB, Wood JN, Cox JJ, Auer-Grumbach M, Timmerman V, de Winter J, Themistocleous AC, Shy M, Bennett DL, Baets J, Hübner CA, Leipold E, Züchner S, Elbracht M, Çakar A, Senderek J, Hornemann T, Woods CG, Reilly MM, Kurth I. Lischka A, et al. Among authors: unnikrishnan g. Brain. 2023 Dec 1;146(12):4880-4890. doi: 10.1093/brain/awad328. Brain. 2023. PMID: 37769650 Free PMC article.
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: unnikrishnan g. Brain. 2024 Jan 4;147(1):281-296. doi: 10.1093/brain/awad315. Brain. 2024. PMID: 37721175 Free PMC article.
Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India.
Ganaraja VH, Polavarapu K, Bardhan M, Preethish-Kumar V, Leena S, Anjanappa RM, Vengalil S, Nashi S, Arunachal G, Gunasekaran S, Mohan D, Raju S, Unnikrishnan G, Huddar A, Ravi-Kiran V, Thomas PT, Nalini A. Ganaraja VH, et al. Among authors: unnikrishnan g. Glob Med Genet. 2021 Nov 9;9(1):34-41. doi: 10.1055/s-0041-1736567. eCollection 2022 Mar. Glob Med Genet. 2021. PMID: 35169782 Free PMC article.
Cross-Sectional Area Reference Values of Nerves in the Upper and Lower Extremities using Ultrasonography in the Indian Population.
Sindhu DM, Huddar A, Saini J, Vengalil S, Nashi S, Bardhan M, Unnikrishnan G, Rajula RR, Kandavel T, Bathala L, Visser LH, Nalini A. Sindhu DM, et al. Among authors: unnikrishnan g. Ann Indian Acad Neurol. 2022 May-Jun;25(3):449-456. doi: 10.4103/aian.aian_727_21. Epub 2022 Apr 1. Ann Indian Acad Neurol. 2022. PMID: 35936619 Free PMC article.
Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India.
Chawla T, Nashi S, Baskar D, Polavarapu K, Vengalil S, Bardhan M, Preethish-Kumar V, Sukrutha R, Unnikrishnan G, Huddar A, Padmanabha H, Anjanappa RM, Bevinahalli N, Nittur V, Rajanna M, Arunachal Udupi G, Nalini A. Chawla T, et al. Among authors: unnikrishnan g. Neurogenetics. 2024 Oct;25(4):435-469. doi: 10.1007/s10048-024-00776-6. Epub 2024 Aug 5. Neurogenetics. 2024. PMID: 39103709
Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy.
Baskar D, Vengalil S, Polavarapu K, Preethish-Kumar V, Arunachal G, Sukrutha R, Bardhan M, Huddar A, Unnikrishnan G, Kulkarni GB, Chickabasaviah YT, Kumar RS, Nalini A, Nashi S. Baskar D, et al. Among authors: unnikrishnan g. Glob Med Genet. 2024 Sep 5;11(4):297-303. doi: 10.1055/s-0044-1790245. eCollection 2024 Dec. Glob Med Genet. 2024. PMID: 39238562 Free PMC article.
Cardiac MRI in Duchenne and Becker Muscular Dystrophy.
Girija MS, Menon D, Polavarapu K, Preethish-Kumar V, Vengalil S, Nashi S, Keertipriya M, Bardhan M, Thomas PT, Kiran VR, Nishadham V, Sadasivan A, Huddar A, Unnikrishnan GK, Barthur A, Nalini A. Girija MS, et al. Among authors: unnikrishnan gk. Ann Indian Acad Neurol. 2024 Sep 1;27(5):552-557. doi: 10.4103/aian.aian_988_23. Epub 2024 Sep 30. Ann Indian Acad Neurol. 2024. PMID: 39344256 Free PMC article.
105 results