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Page 1
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder.
Tokatly Latzer I, Roullet JB, Afshar-Saber W, Lee HHC, Bertoldi M, McGinty GE, DiBacco ML, Arning E, Tsuboyama M, Rotenberg A, Opladen T, Jeltsch K, García-Cazorla À, Juliá-Palacios N, Gibson KM, Sahin M, Pearl PL. Tokatly Latzer I, et al. Among authors: tsuboyama m. J Neurodev Disord. 2024 Apr 24;16(1):21. doi: 10.1186/s11689-024-09538-9. J Neurodev Disord. 2024. PMID: 38658850 Free PMC article.
Reduced evoked cortical beta and gamma activity and neuronal synchronization in succinic semialdehyde dehydrogenase deficiency, a disorder of γ-aminobutyric acid metabolism.
Papadelis C, Ntolkeras G, Tokatly Latzer I, DiBacco ML, Afacan O, Warfield S, Shi X, Roullet JB, Gibson KM; SSADH Deficiency Investigators Consortium; Pearl PL. Papadelis C, et al. Brain Commun. 2023 Oct 25;5(6):fcad291. doi: 10.1093/braincomms/fcad291. eCollection 2023. Brain Commun. 2023. PMID: 37953848 Free PMC article.
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
Koh HY, Smith L, Wiltrout KN, Podury A, Chourasia N, D'Gama AM, Park M, Knight D, Sexton EL, Koh JJ, Oby B, Pinsky R, Shao DD, French CE, Shao W, Rockowitz S, Sliz P, Zhang B, Mahida S, Moufawad El Achkar C, Yuskaitis CJ, Olson HE, Sheidley BR, Poduri AH; BCH Neurology Referral and Phenotyping Group. Koh HY, et al. JAMA Netw Open. 2023 Jul 3;6(7):e2324380. doi: 10.1001/jamanetworkopen.2023.24380. JAMA Netw Open. 2023. PMID: 37471090 Free PMC article.
Focal drug-resistant temporal lobe epilepsy associated with an ipsilateral anterior choroidal artery aneurysm: illustrative case.
Phillips HW, Rangwala SD, Papadakis J, Segar DJ, Tsuboyama M, Pinto ALR, Harmon JP, Soriano SG, Munoz CJ, Madsen JR, See AP, Stone SS. Phillips HW, et al. Among authors: tsuboyama m. J Neurosurg Case Lessons. 2023 Jun 26;5(26):CASE23156. doi: 10.3171/CASE23156. Print 2023 Jun 26. J Neurosurg Case Lessons. 2023. PMID: 37399139 Free PMC article.
Autism spectrum disorder and GABA levels in children with succinic semialdehyde dehydrogenase deficiency.
Tokatly Latzer I, Hanson E, Bertoldi M, García-Cazorla À, Tsuboyama M, MacMullin P, Rotenberg A, Roullet JB, Pearl PL; SSADH Deficiency Investigators Consortium. Tokatly Latzer I, et al. Among authors: tsuboyama m. Dev Med Child Neurol. 2023 Dec;65(12):1596-1606. doi: 10.1111/dmcn.15659. Epub 2023 May 28. Dev Med Child Neurol. 2023. PMID: 37246331
The presence and severity of epilepsy coincide with reduced γ-aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency.
Tokatly Latzer I, Bertoldi M, DiBacco ML, Arning E, Tsuboyama M, MacMullin P, Sachee D, Rotenberg A, Lee HHC, Aygun D, Opladen T, Jeltsch K, García-Cazorla À, Roullet JB, Gibson KM, Pearl PL. Tokatly Latzer I, et al. Among authors: tsuboyama m. Epilepsia. 2023 Jun;64(6):1516-1526. doi: 10.1111/epi.17592. Epub 2023 Apr 4. Epilepsia. 2023. PMID: 36961285
Stereoelectroencephalography followed by combined electrode removal and MRI-guided laser interstitial thermal therapy or open resection: a single-center series in pediatric patients with medically refractory epilepsy.
Slingerland AL, Chua MMJ, Bolton J, Staffa SJ, Tsuboyama M, Prabhu SP, Pearl PL, Madsen JR, Stone SSD. Slingerland AL, et al. Among authors: tsuboyama m. J Neurosurg Pediatr. 2022 Dec 9;31(3):206-211. doi: 10.3171/2022.11.PEDS22262. Print 2023 Mar 1. J Neurosurg Pediatr. 2022. PMID: 36681974
26 results