Pearl PL - Search Results

1

Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency.

Lee HHC, Latzer IT, Bertoldi M, Gao G, Pearl PL, Sahin M, Rotenberg A. Lee HHC, et al. Among authors: pearl pl. J Inherit Metab Dis. 2024 May;47(3):476-493. doi: 10.1002/jimd.12735. Epub 2024 Apr 6. J Inherit Metab Dis. 2024. PMID: 38581234 Review.

2

Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men.

Pearl PL, Gibson KM, Cortez MA, Wu Y, Carter Snead O 3rd, Knerr I, Forester K, Pettiford JM, Jakobs C, Theodore WH. Pearl PL, et al. J Inherit Metab Dis. 2009 Jun;32(3):343-52. doi: 10.1007/s10545-009-1034-y. Epub 2009 Jan 28. J Inherit Metab Dis. 2009. PMID: 19172412 Free PMC article. Review.

3

Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome.

Pinto A, Sahin M, Pearl PL. Pinto A, et al. Among authors: pearl pl. F1000Res. 2016 Mar 18;5:F1000 Faculty Rev-370. doi: 10.12688/f1000research.7605.1. eCollection 2016. F1000Res. 2016. PMID: 27019697 Free PMC article. Review.

4

Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.

Jansen EE, Vogel KR, Salomons GS, Pearl PL, Roullet JB, Gibson KM. Jansen EE, et al. Among authors: pearl pl. J Inherit Metab Dis. 2016 Nov;39(6):795-800. doi: 10.1007/s10545-016-9980-7. Epub 2016 Sep 29. J Inherit Metab Dis. 2016. PMID: 27686230 Free PMC article.

5

Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.

Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM. Coughlin CR 2nd, et al. Among authors: pearl pl. J Inherit Metab Dis. 2021 Jan;44(1):178-192. doi: 10.1002/jimd.12332. Epub 2020 Dec 1. J Inherit Metab Dis. 2021. PMID: 33200442

6

Enzyme Replacement Therapy for Succinic Semialdehyde Dehydrogenase Deficiency: Relevance in γ-Aminobutyric Acid Plasticity.

Lee HHC, Pearl PL, Rotenberg A. Lee HHC, et al. Among authors: pearl pl. J Child Neurol. 2021 Nov;36(13-14):1200-1209. doi: 10.1177/0883073821993000. Epub 2021 Feb 24. J Child Neurol. 2021. PMID: 33624531 Free PMC article.

7

Transcranial Magnetic Stimulation in Succinic Semialdehyde Dehydrogenase Deficiency: A Measure of Maturational Trajectory of Cortical Excitability.

Tsuboyama M, Liu J, Kaye H, DiBacco M, Pearl PL, Rotenberg A. Tsuboyama M, et al. Among authors: pearl pl. J Child Neurol. 2021 Nov;36(13-14):1169-1176. doi: 10.1177/08830738211008735. Epub 2021 May 31. J Child Neurol. 2021. PMID: 34058900 Free PMC article.

8

Quantitative Electroencephalography for Early Detection of Elevated Intracranial Pressure in Critically Ill Children: Case Series and Proposed Protocol.

Sansevere AJ, DiBacco ML, Pearl PL, Rotenberg A. Sansevere AJ, et al. Among authors: pearl pl. J Child Neurol. 2022 Jan;37(1):5-11. doi: 10.1177/08830738211015012. Epub 2021 Nov 22. J Child Neurol. 2022. PMID: 34809499

9

Understanding the Molecular Mechanisms of Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): Towards the Development of SSADH-Targeted Medicine.

Lee HHC, McGinty GE, Pearl PL, Rotenberg A. Lee HHC, et al. Among authors: pearl pl. Int J Mol Sci. 2022 Feb 26;23(5):2606. doi: 10.3390/ijms23052606. Int J Mol Sci. 2022. PMID: 35269750 Free PMC article. Review.

10

Single-stage resection of bottom-of-a-sulcus dysplasia involving eloquent cortex using navigated transcranial magnetic stimulation and intraoperative modalities.

Barrit S, Park EH, Rotenberg A, Kaye H, Pearl PL, Madsen JR. Barrit S, et al. Among authors: pearl pl. Childs Nerv Syst. 2022 Jul;38(7):1365-1370. doi: 10.1007/s00381-022-05532-5. Epub 2022 Apr 21. Childs Nerv Syst. 2022. PMID: 35449311

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