Výsledky vyhledávání - "Shyam K, Akula"

Akademický článek

The spectrum of movement disorders in young children with ARX‐related epilepsy‐dyskinesia syndrome

Autor: Shyam K. Akula, Vicente Quiroz, Alissa M. D'Gama, Michelle Y. Chiu, Hyun Yong Koh, Afshin Saffari, Zainab Zaman, Amy Tam, Rasha Srouji, Rozalia Valentine, Kimberly Wiltrout, Anna Pinto, Chellamani Harini, Phillip L. Pearl, Annapurna Poduri, Darius Ebrahimi‐Fakhari

Publikováno v: Annals of Clinical and Translational Neurology, Vol 11, Iss 6, Pp 1643-1647 (2024)

Abstract Children with developmental and epileptic encephalopathies often present with co‐occurring dyskinesias. Pathogenic variants in ARX cause a pleomorphic syndrome that includes infantile epilepsy with a variety of movement disorders ranging f

Externí odkaz: https://doaj.org/article/d1cd414298344b90bc8fbe11f9b1e808

Zobrazit plný text záznamu

Plný text ve formátu HTML

Akademický článek

The trajectory of gait development in mice

Autor: Shyam K. Akula, Katherine B. McCullough, Claire Weichselbaum, Joseph D. Dougherty, Susan E. Maloney

Publikováno v: Brain and Behavior, Vol 10, Iss 6, Pp n/a-n/a (2020)

Abstract Objective Gait irregularities are prevalent in neurodevelopmental disorders (NDDs). However, there is a paucity of information on gait phenotypes in NDD experimental models. This is in part due to the lack of understanding of the normal deve

Externí odkaz: https://doaj.org/article/be5b9003fdb64e6aa8645370643d7cdd

Zobrazit plný text záznamu

Plný text ve formátu HTML

Glial dysregulation in human brain in Fragile X-related disorders

Autor: Caroline M. Dias, Maya Talukdar, Shyam K. Akula, Katherine Walsh, Christopher A. Walsh

While large trinucleotide repeat expansions at the FMR1 locus cause Fragile X Syndrome (FXS), smaller “premutations” are associated with the late-onset condition Fragile X-associated tremor/ataxia syndrome (FXTAS), which shows very different clin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::08e05eb0565f074a564ce1e392aaac57
https://doi.org/10.1101/2022.03.29.486195

Zobrazit plný text záznamu

Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder

Publikováno v: American Journal of Human Genetics, 109, 2, pp. 345-360
American Journal of Human Genetics, 109, 345-360
American Journal of Human Genetics
American Journal of Human Genetics, 2022, The American Journal of Human Genetics, 109, ⟨10.1016/j.ajhg.2021.12.010⟩

International audience; Free oligosaccharides (fOSs) are soluble oligosaccharide species generated during N-glycosylation of proteins. Although little is knownabout fOS metabolism, the recent identification of NGLY1 deficiency, a congenital disorder

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ade79422f56e0a567e70b2ea5e783406
https://biblio.vub.ac.be/vubir/impaired-catabolism-of-free-oligosaccharides-due-to-man2c1-variants-causes-a-neurodevelopmental-disorder(96caf5ec-f9c4-429e-bb48-d636ee0ac948).html

Zobrazit plný text záznamu

Early role for a Na

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America

Significance By evaluating children with a malformed cerebral cortex, we identified an ATPase pump (ATP1A3) with an early role in brain development. The ATP1A3 pump maintains the physiological concentration of sodium and potassium ions in cells, a pr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::af1f9e50c5fbe1aa916dee7cbe8759c7
https://pubmed.ncbi.nlm.nih.gov/34161264

Zobrazit plný text záznamu

Early role for a Na + ,K + -ATPase ( ATP1A3 ) in brain development

Publikováno v: Proceedings of the National Academy of Sciences. 118

Osmotic equilibrium and membrane potential in animal cells depend on concentration gradients of sodium (Na+) and potassium (K+) ions across the plasma membrane, a function catalyzed by the Na+,K+-ATPase α-subunit. Here, we describe ATP1A3 variants e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c6de18d8331d117633975f361d3c7aa2
https://doi.org/10.1073/pnas.2023333118

Zobrazit plný text záznamu

Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia

Autor: Darius, Ebrahimi-Fakhari, Julian E, Alecu, Marvin, Ziegler, Gregory, Geisel, Catherine, Jordan, Angelica, D'Amore, Rebecca C, Yeh, Shyam K, Akula, Afshin, Saffari, Sanjay P, Prabhu, Mustafa, Sahin, Edward, Yang, Conny M A, van Ravenswaaij-Arts

Publikováno v: Neurology

Background and ObjectivesAP-4-associated hereditary spastic paraplegia (AP-4-HSP: SPG47, SPG50, SPG51, SPG52) is an emerging cause of childhood-onset hereditary spastic paraplegia and mimic of cerebral palsy. This study aims to define the spectrum of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcfcacb2aaf18a724159e2e69ac27c77
https://pubmed.ncbi.nlm.nih.gov/34544818

Zobrazit plný text záznamu

Parallel RNA and DNA analysis after deep sequencing (PRDD-seq) reveals cell type-specific lineage patterns in human brain

Autor: Ed Lein, Eunjung Lee, Rachel E. Rodin, Shyam K. Akula, Peter J. Park, Christopher A. Walsh, Rebecca D. Hodge, August Yue Huang, Connor J. Kenny, Jeremy A. Miller, Sonia N. Kim, Yanmei Dou, Pengpeng Li, Trygve E. Bakken

Publikováno v: Proc Natl Acad Sci U S A

Elucidating the lineage relationships among different cell types is key to understanding human brain development. Here we developedParallelRNA andDNA analysis afterDeep-sequencing (PRDD-seq), which combines RNA analysis of neuronal cell types with an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f723a51870aca86dc37ad00f8bf9c447
https://pubmed.ncbi.nlm.nih.gov/32522880

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání