Zobrazeno 1 - 10 of 17 pro vyhledávání: '"Akilandeswari Aravindhan"'
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Akademický článek
Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay due to Novel Mutations in the Gene
Autor: Rohan Sharma MD, Akilandeswari Aravindhan MD, Clara Puente BS, Aravindhan Veerapandiyan MD
Publikováno v: Journal of Investigative Medicine High Impact Case Reports, Vol 10 (2022)
Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is characterized by triad of progressive cerebellar ataxia, progressive spasticity, and axonal/demyelinating peripheral neuropathy. Other manifestations include dysarthria, weakness
Externí odkaz: https://doaj.org/article/b37591b0bdc947c089933e6dc4044f27
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Dystrophinopathy in a Family Due to a Rare Nonsense Mutation Causing Predominant Behavioral Phenotype
Autor: Yohei Harada, Akilandeswari Aravindhan, Aravindhan Veerapandiyan, Seth T. Sorensen, Vikki Stefans
Publikováno v: Journal of Pediatric Neurology. 18:210-213
Dystrophinopathies are a group of X-linked neuromuscular disorders resulting from mutations in DMD gene that encodes dystrophin. The clinical spectrum includes Duchenne muscular dystrophy, Becker muscular dystrophy, X-linked cardiomyopathy, and intel
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::25623a2175c480fb535ba7b960ae8dd1
https://doi.org/10.1055/s-0039-1698437
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8
Autosomal Recessive Spastic Ataxia of Charlevoix–Saguenay due to Novel Mutations in the SACS Gene
Autor: Rohan Sharma, Akilandeswari Aravindhan, Clara Puente, Aravindhan Veerapandiyan
Publikováno v: Journal of Investigative Medicine High Impact Case Reports. 10:232470962211396
Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is characterized by triad of progressive cerebellar ataxia, progressive spasticity, and axonal/demyelinating peripheral neuropathy. Other manifestations include dysarthria, weakness
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f506456dc4647defce486cdebc81afc6
https://doi.org/10.1177/23247096221139670
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Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in FKRP Gene
Autor: Erin Willis, Steven A. Moore, Mary O. Cox, Vikki Stefans, Akilandeswari Aravindhan, Murat Gokden, Aravindhan Veerapandiyan
Publikováno v: Child Neurology Open. 9:2329048X2210975
Limb-girdle muscular dystrophy R9 (LGMD2I, LGMDR9) is an autosomal recessive disorder caused by pathogenic variants in the fukutin-related protein ( FKRP) gene. We describe a 17 year old boy with LGMDR9 whose symptoms began at age 5 years. Muscle his
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::70041318f473ae9ded37d542a829a41d
https://doi.org/10.1177/2329048x221097518
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10
Early-onset epileptic encephalopathy with myoclonic seizures related to 9q33.3-q34.11 deletion involving STXBP1 and SPTAN1 genes
Autor: Aravindhan Veerapandiyan, Kinal Shah, Jayoung Pak, Akilandeswari Aravindhan
Publikováno v: Epileptic Disorders. 20:214-218
We describe a 10-month-old boy with early-onset epileptic encephalopathy who was found to have a hemizygous deletion in 9q33.3-q34.11 involving STXBP1 and SPTAN1 genes. He presented at the age of 2.5 months with frequent upper extremity myoclonus, hy
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e11464874d26233399bddac4ed198da
https://doi.org/10.1684/epd.2018.0969
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