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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
Menkes disease and response to copper histidine: An Indian case series.
Yoganathan S, Sudhakar SV, Arunachal G, Thomas M, Subramanian A, George R, Danda S. Yoganathan S, et al. Among authors: arunachal g. Ann Indian Acad Neurol. 2017 Jan-Mar;20(1):62-68. doi: 10.4103/0972-2327.199907. Ann Indian Acad Neurol. 2017. PMID: 28298846 Free PMC article.
A Treatable Cause of Intellectual Disability and Autism in a Young Child.
Yoganathan S, Sharma S, Varman M, Malhotra M, Chandran M, Arunachal G, Thomas M. Yoganathan S, et al. Among authors: arunachal g. Indian J Pediatr. 2020 Oct;87(10):850-851. doi: 10.1007/s12098-020-03225-y. Epub 2020 Mar 24. Indian J Pediatr. 2020. PMID: 32207074 No abstract available.
Guanidinoacetate Methyltransferase (GAMT) Deficiency, A Cerebral Creatine Deficiency Syndrome: A Rare Treatable Metabolic Disorder.
Yoganathan S, Arunachal G, Kratz L, Varman M, Sudhakar SV, Oommen SP, Jain S, Thomas M, Babuji M. Yoganathan S, et al. Among authors: arunachal g. Ann Indian Acad Neurol. 2020 May-Jun;23(3):419-421. doi: 10.4103/aian.AIAN_172_19. Epub 2020 Jan 3. Ann Indian Acad Neurol. 2020. PMID: 32606564 Free PMC article. No abstract available.
Metabolic Or Ischemic Stroke in Succinic Semi-Aldehyde Dehydrogenase Deficiency Due to the Homozygous Variant c. 1343 + 1_1343 + 3delGTAinsTT in ALDH5A1.
Yoganathan S, Arunachal G, Kratz L, Varman M, Thomas M, Sudhakar SV, Oommen SP, Danda S. Yoganathan S, et al. Among authors: arunachal g. Ann Indian Acad Neurol. 2021 Mar-Apr;24(2):259-261. doi: 10.4103/aian.AIAN_360_20. Epub 2021 Apr 28. Ann Indian Acad Neurol. 2021. PMID: 34220078 Free PMC article. No abstract available.
Attenuated form of Glycine Encephalopathy: An Unusual Cause of Neurodevelopmental Disorder.
Yoganathan S, Srinivasaraghavan R, Chandran M, Kratz L, Koshy B, Sudhakar SV, Arunachal G, Thomas M, Danda S. Yoganathan S, et al. Among authors: arunachal g. Ann Indian Acad Neurol. 2021 Mar-Apr;24(2):261-264. doi: 10.4103/aian.AIAN_361_20. Epub 2021 Apr 28. Ann Indian Acad Neurol. 2021. PMID: 34220079 Free PMC article. No abstract available.
91 results