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Primary Microgliopathy Presenting as Degenerative Dementias: A Case Series of Novel Gene Mutations from India.
Ramakrishnan S, Arshad F, Bs K, Pon AG, Bosco S, Kumar S, Chidambaram H, Chinnathambi SCB, Kulanthaivelu K, Arunachal G, Alladi S. Ramakrishnan S, et al. Among authors: arunachal g. Dement Geriatr Cogn Dis Extra. 2024 Mar 8;14(1):14-28. doi: 10.1159/000538145. eCollection 2024 Jan-Dec. Dement Geriatr Cogn Dis Extra. 2024. PMID: 38910897 Free PMC article.
OPA1 Mutation Presenting as Ethambutol-Induced Optic Neuropathy.
Jain A, Nashi S, Mailankody P, Srijithesh PR, Kulkarni GB, Alladi S, Bhatia S, Arunachal G. Jain A, et al. Among authors: arunachal g. Ann Indian Acad Neurol. 2024 May 1;27(3):340-343. doi: 10.4103/aian.aian_1107_23. Epub 2024 Jun 5. Ann Indian Acad Neurol. 2024. PMID: 38835165 Free article. No abstract available.
Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects.
Polavarapu K, O'Neil D, Thompson R, Spendiff S, Nandeesh B, Vengalil S, Huddar A, Baskar D, Arunachal G, Kotambail A, Bhatia S, Tumulu SK, Matalonga L, Töpf A, Laurie S, Zeldin J, Nashi S, Unnikrishnan G, Nalini A, Lochmüller H. Polavarapu K, et al. Among authors: arunachal g. Neuromuscul Disord. 2024 Jun;39:10-18. doi: 10.1016/j.nmd.2024.03.011. Epub 2024 Mar 22. Neuromuscul Disord. 2024. PMID: 38669730
Early-onset levodopa responsive parkinsonism in PPP2R5D mutation.
Mahale R, Arunachal G, Chadha D, Padmanabha H, M P, Pavagada M. Mahale R, et al. Among authors: arunachal g. Parkinsonism Relat Disord. 2024 Jun;123:106952. doi: 10.1016/j.parkreldis.2024.106952. Epub 2024 Apr 4. Parkinsonism Relat Disord. 2024. PMID: 38582018 No abstract available.
Myotonic Dystrophy Type 1 (DM1): Clinical Characteristics and Disease Progression in a Large Cohort.
Chawla T, Reddy N, Jankar R, Vengalil S, Polavarapu K, Arunachal G, Preethish-Kumar V, Nashi S, Bardhan M, Rajeshwaran J, Afsar M, Warrier M, Thomas PT, Thennarasu K, Nalini A. Chawla T, et al. Among authors: arunachal g. Neurol India. 2024 Jan 1;72(1):83-89. doi: 10.4103/neuroindia.NI_1432_20. Epub 2024 Feb 29. Neurol India. 2024. PMID: 38443007 Free article.
Childhood-Onset Myopathy With Preserved Ambulation Caused by a Recurrent ADSSL1 Missense Variant.
Baskar D, Polavarapu K, Preethish-Kumar V, Vengalil S, Nashi S, Töpf A, Thomas A, Sanka SB, Menon D, Srivastava K, Arunachal G, Nandeesh BN, Lochmüller H, Nalini A. Baskar D, et al. Among authors: arunachal g. Neurol Genet. 2024 Jan 3;10(1):e200122. doi: 10.1212/NXG.0000000000200122. eCollection 2024 Feb. Neurol Genet. 2024. PMID: 38229919 Free PMC article.
76 results