Roberta L Beauchamp
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Explore the profile of Roberta L Beauchamp including associated specialties, affiliations and a list of published articles.
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26
Citations
311
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Recent Articles
1.
Martin P, Szkop K, Robert F, Bhattacharyya S, Beauchamp R, Brenner J, et al.
Brain
. 2025 Mar;
PMID: 40037376
Tuberous sclerosis complex (TSC) is an inherited multi-system neurocutaneous disorder where patients often present with neurodevelopmental manifestations such as epilepsy and TSC-associated neuropsychiatric disorder (TAND) that includes autism spectrum disorder...
2.
Martin P, Szkop K, Robert F, Bhattacharyya S, Beauchamp R, Brenner J, et al.
bioRxiv
. 2024 Jun;
PMID: 38895292
Tuberous sclerosis complex (TSC) is an inherited neurodevelopmental disorder (NDD) with frequent manifestations of epilepsy and autism spectrum disorder (ASD). TSC is caused by inactivating mutations in or tumor suppressor...
3.
Prabhakar S, Beauchamp R, Cheah P, Yoshinaga A, Haidar E, Lule S, et al.
Mol Ther Methods Clin Dev
. 2024 May;
32(2):101262.
PMID: 38745896
[This corrects the article DOI: 10.1016/j.omtm.2022.06.012.].
4.
Bhattacharyya S, Oblinger J, Beauchamp R, Kosa L, Robert F, Plotkin S, et al.
Neurooncol Adv
. 2024 Mar;
6(1):vdae024.
PMID: 38476930
Background: NF2-associated meningiomas are progressive, highly morbid, and nonresponsive to chemotherapies, highlighting the need for improved treatments. We have established aberrant activation of the mechanistic target of rapamycin (mTOR) signaling...
5.
Aksoylu I, Martin P, Robert F, Szkop K, Redmond N, Bhattacharyya S, et al.
Mol Autism
. 2023 Oct;
14(1):39.
PMID: 37880800
Background: Tuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder caused by mutations in the TSC1 or TSC2 genes, with patients often exhibiting neurodevelopmental (ND) manifestations termed TSC-associated neuropsychiatric disorders...
6.
Jordan J, Orr C, Thalheimer R, Cambillo J, Beauchamp R, Shaikh G, et al.
Neurooncol Adv
. 2023 May;
5(1):vdad041.
PMID: 37215956
Background: Meningiomas occur in 80% of persons with neurofibromatosis 2 (NF2) and cause significant mortality and morbidity, yet there are no effective medical treatments. -deficient tumors have constitutive activation of...
7.
Aksoylu I, Martin P, Robert F, Szkop K, Redmond N, Chen S, et al.
Res Sq
. 2023 Apr;
PMID: 37034588
Tuberous sclerosis complex (TSC) is an inherited neurocutaneous disorder caused by mutations in or genes, with patients often exhibiting neurodevelopmental (ND) manifestations termed TSC-associated neuropsychiatric disorders (TAND) including autism spectrum...
8.
Bhattacharyya S, Oblinger J, Beauchamp R, Yin Z, Erdin S, Koundinya P, et al.
Neuro Oncol
. 2023 Feb;
25(9):1617-1630.
PMID: 36806881
Background: Neurofibromatosis 2 (NF2) is an inherited disorder caused by bi-allelic inactivation of the NF2 tumor suppressor gene. NF2-associated tumors, including schwannoma and meningioma, are resistant to chemotherapy, often recurring...
9.
Prabhakar S, Beauchamp R, Cheah P, Yoshinaga A, Haidar E, Lule S, et al.
Mol Ther Methods Clin Dev
. 2022 Jul;
26:169-180.
PMID: 35846573
Loss of function of the neurofibromatosis type 2 (NF2) tumor suppressor gene leads to the formation of schwannomas, meningiomas, and ependymomas, comprising ∼50% of all sporadic cases of primary nervous...
10.
Cheng C, Reis S, Adams E, Fass D, Angus S, Stuhlmiller T, et al.
Sci Rep
. 2021 Aug;
11(1):17029.
PMID: 34426604
Mutations in MAPT (microtubule-associated protein tau) cause frontotemporal dementia (FTD). MAPT mutations are associated with abnormal tau phosphorylation levels and accumulation of misfolded tau protein that can propagate between neurons...