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Page 1
Disorders of Tetrahydrobiopterin Metabolism: Experience from South India.
Ray S, Padmanabha H, Gowda VK, Mahale R, Christopher R, Sreedharan S, Dhar D, Kamate M, Nagappa M, Bhat M, Anjanappa R, Arunachal G, Pooja M, Mathuranath PS, Chandra SR. Ray S, et al. Among authors: anjanappa r. Metab Brain Dis. 2022 Mar;37(3):743-760. doi: 10.1007/s11011-021-00889-z. Epub 2022 Jan 8. Metab Brain Dis. 2022. PMID: 34997870
Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome.
Bardhan M, Polavarapu K, Bevinahalli NN, Veeramani PK, Anjanappa RM, Arunachal G, Shingavi L, Vengalil S, Nashi S, Chawla T, Nagabushana D, Mohan D, Horvath R, Nishino I, Atchayaram N. Bardhan M, et al. Among authors: anjanappa rm. J Hum Genet. 2021 Aug;66(8):813-823. doi: 10.1038/s10038-021-00913-1. Epub 2021 Mar 12. J Hum Genet. 2021. PMID: 33712684
Correction: Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome.
Bardhan M, Polavarapu K, Bevinahalli NN, Preethish-Kumar V, Anjanappa RM, Arunachal G, Shingavi L, Vengalil S, Nashi S, Chawla T, Nagabushana D, Mohan D, Horvath R, Nishino I, Nalini A. Bardhan M, et al. Among authors: anjanappa rm. J Hum Genet. 2021 Aug;66(8):841. doi: 10.1038/s10038-021-00920-2. J Hum Genet. 2021. PMID: 33767318 No abstract available.
Comparison of The Carrier Frequency of Pathogenic Variants of DMD Gene in an Indian Cohort.
Nagabushana D, Polavarapu K, Bardhan M, Arunachal G, Gunasekaran S, Preethish-Kumar V, Anjanappa RM, Thomas P, Sadasivan A, Vengalil S, Nashi S, Chawla T, Warrier M, Keerthipriya M, Raju S, Mohan D, Nalini A. Nagabushana D, et al. J Neuromuscul Dis. 2021;8(4):525-535. doi: 10.3233/JND-210658. J Neuromuscul Dis. 2021. PMID: 33843695
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. 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.
Clinical, Biochemical, Radiological, and Genetic Profile of Patients with Homocysteine Remethylation Pathway Defect and Spastic Paraplegia.
Padmanabha H, Mahale R, Christopher R, Arunachal G, Bhat M, Mondal MS, Anjanappa RM, Mundlamuri RC, Yadav R, Vengalil S, Mailankody P, Mathuranath PS, Chandra SR, Nalini A. Padmanabha H, et al. Among authors: anjanappa rm. Ann Indian Acad Neurol. 2021 Nov-Dec;24(6):908-916. doi: 10.4103/aian.AIAN_223_21. Epub 2021 Dec 14. Ann Indian Acad Neurol. 2021. PMID: 35359558 Free PMC article.
Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C.
Bardhan M, Anjanappa RM, Polavarapu K, Preethish-Kumar V, Vengalil S, Nashi S, Sanga S, Padmanabh H, Valasani RK, Nishadham V, Keerthipriya M, Geetha TS, Ramprasad V, Arunachal G, Thomas PT, Acharya M, Nalini A. Bardhan M, et al. Neurogenetics. 2022 Jul;23(3):187-202. doi: 10.1007/s10048-022-00690-9. Epub 2022 Apr 13. Neurogenetics. 2022. PMID: 35416532
Genotype-phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India.
Nashi S, Polavarapu K, Bardhan M, Anjanappa RM, Preethish-Kumar V, Vengalil S, Padmanabha H, Geetha TS, Prathyusha PV, Ramprasad V, Joshi A, Chawla T, Unnikrishnan G, Sharma P, Huddar A, Uppilli B, Thomas A, Baskar D, Mathew S, Menon D, Arunachal G, Faruq M, Thangaraj K, Nalini A. Nashi S, et al. Neurogenetics. 2023 Jan;24(1):43-53. doi: 10.1007/s10048-022-00707-3. Epub 2022 Dec 29. Neurogenetics. 2023. PMID: 36580222
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: anjanappa rm. Brain. 2024 Jan 4;147(1):281-296. doi: 10.1093/brain/awad315. Brain. 2024. PMID: 37721175 Free PMC article.
38 results