R01 NS077015/NS/NINDS NIH HHS/United States[Grants and Funding] - Search Results

Year	Number of Results
2011	2
2012	4
2013	3
2014	2
2015	1
2016	1
2017	1
2019	1
2020	2
2022	1
2023	5
2024	0

1

Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group.

Klepper J, Akman C, Armeno M, Auvin S, Cervenka M, Cross HJ, De Giorgis V, Della Marina A, Engelstad K, Heussinger N, Kossoff EH, Leen WG, Leiendecker B, Monani UR, Oguni H, Neal E, Pascual JM, Pearson TS, Pons R, Scheffer IE, Veggiotti P, Willemsen M, Zuberi SM, De Vivo DC. Klepper J, et al. Epilepsia Open. 2020 Aug 13;5(3):354-365. doi: 10.1002/epi4.12414. eCollection 2020 Sep. Epilepsia Open. 2020. PMID: 32913944 Free PMC article.

2

Cerebellar contribution to autism-relevant behaviors in fragile X syndrome models.

Gibson JM, Vazquez AH, Yamashiro K, Jakkamsetti V, Ren C, Lei K, Dentel B, Pascual JM, Tsai PT. Gibson JM, et al. Cell Rep. 2023 Dec 26;42(12):113533. doi: 10.1016/j.celrep.2023.113533. Epub 2023 Dec 3. Cell Rep. 2023. PMID: 38048226 Free PMC article.

3

Metabolic modulation of synaptic failure and thalamocortical hypersynchronization with preserved consciousness in Glut1 deficiency.

Rajasekaran K, Ma Q, Good LB, Kathote G, Jakkamsetti V, Liu P, Avila A, Primeaux S, Enciso Alva J, Markussen KH, Marin-Valencia I, Sirsi D, Hacker PMS, Gentry MS, Su J, Lu H, Pascual JM. Rajasekaran K, et al. Sci Transl Med. 2022 Oct 5;14(665):eabn2956. doi: 10.1126/scitranslmed.abn2956. Epub 2022 Oct 5. Sci Transl Med. 2022. PMID: 36197967 Free PMC article.

4

Impoverished Conceptions of Gene Causation and Therapy in Developmental Neurology.

Pascual JM, Jakkamsetti V, Málaga I, Noble D. Pascual JM, et al. Pediatr Neurol. 2023 Nov;148:198-205. doi: 10.1016/j.pediatrneurol.2023.07.017. Epub 2023 Jul 29. Pediatr Neurol. 2023. PMID: 37652816 Review.

5

Deregulation of mitochondrial F1FO-ATP synthase via OSCP in Alzheimer's disease.

Beck SJ, Guo L, Phensy A, Tian J, Wang L, Tandon N, Gauba E, Lu L, Pascual JM, Kroener S, Du H. Beck SJ, et al. Nat Commun. 2016 May 6;7:11483. doi: 10.1038/ncomms11483. Nat Commun. 2016. PMID: 27151236 Free PMC article.

6

A concise study of acetazolamide in glucose transporter type 1 deficiency (G1D) epilepsy.

Málaga I, Avila A, Primeaux S, Park JY, Pascual JM. Málaga I, et al. Epilepsia. 2023 Sep;64(9):e184-e189. doi: 10.1111/epi.17684. Epub 2023 Jul 10. Epilepsia. 2023. PMID: 37335529 Free PMC article.

7

Triheptanoin Mitigates Brain ATP Depletion and Mitochondrial Dysfunction in a Mouse Model of Alzheimer's Disease.

Yuan X, Wang L, Tandon N, Sun H, Tian J, Du H, Pascual JM, Guo L. Yuan X, et al. J Alzheimers Dis. 2020;78(1):425-437. doi: 10.3233/JAD-200594. J Alzheimers Dis. 2020. PMID: 33016909 Free PMC article.

8

Glucose Transporter Type I Deficiency (G1D) at 25 (1990-2015): Presumptions, Facts, and the Lives of Persons With This Rare Disease.

Pascual JM, Ronen GM. Pascual JM, et al. Pediatr Neurol. 2015 Nov;53(5):379-93. doi: 10.1016/j.pediatrneurol.2015.08.001. Epub 2015 Aug 10. Pediatr Neurol. 2015. PMID: 26341673 Free PMC article. Review.

9

Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet.

Ulate-Campos A, Fons C, Artuch R, Castejón E, Martorell L, Ozelius L, Pascual J, Campistol J. Ulate-Campos A, et al. Pediatr Neurol. 2014 Apr;50(4):377-9. doi: 10.1016/j.pediatrneurol.2013.11.017. Epub 2013 Dec 4. Pediatr Neurol. 2014. PMID: 24491413 Free article.

10

Brain metabolism modulates neuronal excitability in a mouse model of pyruvate dehydrogenase deficiency.

Jakkamsetti V, Marin-Valencia I, Ma Q, Good LB, Terrill T, Rajasekaran K, Pichumani K, Khemtong C, Hooshyar MA, Sundarrajan C, Patel MS, Bachoo RM, Malloy CR, Pascual JM. Jakkamsetti V, et al. Sci Transl Med. 2019 Feb 20;11(480):eaan0457. doi: 10.1126/scitranslmed.aan0457. Sci Transl Med. 2019. PMID: 30787166 Free PMC article.

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