Shyam K Akula
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Explore the profile of Shyam K Akula including associated specialties, affiliations and a list of published articles.
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13
Citations
128
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Recent Articles
1.
Lim Y, Akula S, Myers A, Chen C, Rafael K, Walsh C, et al.
bioRxiv
. 2024 Jun;
PMID: 38895467
Mutations in aristaless-related homeobox ( ) are associated with neurodevelopmental disorders including developmental epilepsies, intellectual disabilities, and autism spectrum disorders, with or without brain malformations. Aspects of these disorders have...
2.
Akula S, Quiroz V, DGama A, Chiu M, Koh H, Saffari A, et al.
Ann Clin Transl Neurol
. 2024 May;
11(6):1643-1647.
PMID: 38711225
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...
3.
Akula S, Exposito-Alonso D, Walsh C
Dev Cell
. 2023 Dec;
58(24):2836-2849.
PMID: 38113850
The cerebral cortex-the brain's covering and largest region-has increased in size and complexity in humans and supports higher cognitive functions such as language and abstract thinking. There is a growing...
4.
Kim S, Viswanadham V, Doan R, Dou Y, Bizzotto S, Khoshkhoo S, et al.
bioRxiv
. 2023 Nov;
PMID: 37986891
The mammalian cerebral cortex shows functional specialization into regions with distinct neuronal compositions, most strikingly in the human brain, but little is known in about how cellular lineages shape cortical...
5.
Akula S, Chen A, Neil J, Shao D, Mo A, Hylton N, et al.
JAMA Neurol
. 2023 Jul;
80(9):980-988.
PMID: 37486637
Importance: Polymicrogyria is the most commonly diagnosed cortical malformation and is associated with neurodevelopmental sequelae including epilepsy, motor abnormalities, and cognitive deficits. Polymicrogyria frequently co-occurs with other brain malformations or...
6.
Dias C, Issac B, Sun L, Lukowicz A, Talukdar M, Akula S, et al.
Proc Natl Acad Sci U S A
. 2023 May;
120(23):e2300052120.
PMID: 37252957
Short trinucleotide expansions at the FMR1 locus are associated with the late-onset condition fragile X-associated tremor/ataxia syndrome (FXTAS), which shows very different clinical and pathological features from fragile X syndrome...
7.
Akula S, Marciano J, Lim Y, Exposito-Alonso D, Hylton N, Hwang G, et al.
Proc Natl Acad Sci U S A
. 2023 Jan;
120(4):e2209964120.
PMID: 36669111
Sonic hedgehog signaling regulates processes of embryonic development across multiple tissues, yet factors regulating context-specific Shh signaling remain poorly understood. Exome sequencing of families with polymicrogyria (disordered cortical folding) revealed...
8.
Qian X, DeGennaro E, Talukdar M, Akula S, Lai A, Shao D, et al.
Dev Cell
. 2022 Oct;
57(20):2381-2396.e13.
PMID: 36228617
Kinesins are canonical molecular motors but can also function as modulators of intracellular signaling. KIF26A, an unconventional kinesin that lacks motor activity, inhibits growth-factor-receptor-bound protein 2 (GRB2)- and focal adhesion...
9.
Maia N, Potelle S, Yildirim H, Duvet S, Akula S, Schulz C, et al.
Am J Hum Genet
. 2022 Jan;
109(2):345-360.
PMID: 35045343
Free oligosaccharides (fOSs) are soluble oligosaccharide species generated during N-glycosylation of proteins. Although little is known about fOS metabolism, the recent identification of NGLY1 deficiency, a congenital disorder of deglycosylation...
10.
Ebrahimi-Fakhari D, Alecu J, Ziegler M, Geisel G, Jordan C, DAmore A, et al.
Neurology
. 2021 Sep;
97(19):e1942-e1954.
PMID: 34544818
Background And Objectives: AP-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...