| Year |
Citation |
Score |
| 2024 |
Tokatly Latzer I, Bertoldi M, Blau N, DiBacco ML, Elsea SH, García-Cazorla À, Gibson KM, Gropman AL, Hanson E, Hoffman C, Jeltsch K, Juliá-Palacios N, Knerr I, Lee HHC, Malaspina P, ... ... Pearl PL, et al. Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency. Molecular Genetics and Metabolism. 142: 108363. PMID 38452608 DOI: 10.1016/j.ymgme.2024.108363 |
0.321 |
|
| 2024 |
Latzer IT, Pearl PL. Treatable inherited metabolic epilepsies. Epilepsy & Behavior : E&B. 151: 109621. PMID 38237465 DOI: 10.1016/j.yebeh.2024.109621 |
0.347 |
|
| 2023 |
Pearl PL. Comment: Amenable Treatable Severe Pediatric Epilepsies. Seminars in Pediatric Neurology. 47: 101073. PMID 37919041 DOI: 10.1016/j.spen.2023.101073 |
0.369 |
|
| 2023 |
Latzer IT, Blau N, Ferreira CR, Pearl PL. Clinical and biochemical footprints of inherited metabolic diseases. XV. Epilepsies. Molecular Genetics and Metabolism. 140: 107690. PMID 37659319 DOI: 10.1016/j.ymgme.2023.107690 |
0.326 |
|
| 2023 |
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, et al. The Presence and Severity of Epilepsy Coincide with Reduced GABA and Cortical Excitatory Markers in SSADH Deficiency. Epilepsia. PMID 36961285 DOI: 10.1111/epi.17592 |
0.358 |
|
| 2022 |
Lee HHC, McGinty GE, Pearl PL, Rotenberg A. Understanding the Molecular Mechanisms of Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): Towards the Development of SSADH-Targeted Medicine. International Journal of Molecular Sciences. 23. PMID 35269750 DOI: 10.3390/ijms23052606 |
0.351 |
|
| 2021 |
Lee HHC, Pearl PL, Rotenberg A. Enzyme Replacement Therapy for Succinic Semialdehyde Dehydrogenase Deficiency: Relevance in γ-Aminobutyric Acid Plasticity. Journal of Child Neurology. 883073821993000. PMID 33624531 DOI: 10.1177/0883073821993000 |
0.319 |
|
| 2020 |
Coughlin CR, 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, ... ... Pearl PL, et al. Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency. Journal of Inherited Metabolic Disease. PMID 33200442 DOI: 10.1002/jimd.12332 |
0.571 |
|
| 2020 |
Bernstock JD, Olsen HE, Segar D, Huang K, Kappel AD, Essayed W, Pearl PL, Madsen JR. Corpus callosotomy for refractory epilepsy in Aicardi syndrome: a case report and focused review of the literature. World Neurosurgery. PMID 32652281 DOI: 10.1016/J.Wneu.2020.06.230 |
0.304 |
|
| 2019 |
Brown M, Ashcraft P, Arning E, Bottiglieri T, McClintock W, Giancola F, Lieberman D, Hauser NS, Miller R, Roullet JB, Pearl P, Gibson KM. Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female. Molecular Genetics & Genomic Medicine. e629. PMID 30829465 DOI: 10.1002/Mgg3.629 |
0.329 |
|
| 2019 |
Hegde AU, Karnavat PK, Vyas R, DiBacco ML, Grant PE, Pearl PL. GABA Transaminase Deficiency With Survival Into Adulthood. Journal of Child Neurology. 883073818823359. PMID 30644311 DOI: 10.1177/0883073818823359 |
0.333 |
|
| 2018 |
Pearl PL. Epilepsy Syndromes in Childhood. Continuum (Minneapolis, Minn.). 24: 186-209. PMID 29432243 DOI: 10.1212/CON.0000000000000568 |
0.315 |
|
| 2018 |
Tamilia E, Alhilani M, Park E, Grant E, Pearl P, Madsen J, Papadelis C. Platform Session – Electroencephalography/Epilepsy: Onset of interictal ripple high-frequency oscillations in intracranial electroencephalography predicts outcome in children undergoing epilepsy surgery Clinical Neurophysiology. 129. DOI: 10.1016/J.Clinph.2018.04.597 |
0.342 |
|
| 2018 |
Alhilani M, Tamilia E, Grant E, Stufflebeam S, Madsen J, Pearl P, Tanaka N, Papadelis C. T161. Correlating magnetoencephalography (MEG) and high-density electroencephalography (EEG) with invasive recordings in pediatric patients undergoing epilepsy surgery Clinical Neurophysiology. 129. DOI: 10.1016/J.Clinph.2018.04.162 |
0.328 |
|
| 2017 |
Sansevere AJ, Avalone J, Strauss LD, Patel AA, Pinto A, Ramachandran M, Sanchez Fernandez I, Bergin AM, Kimia A, Pearl PL, Loddenkemper T. Diagnostic and Therapeutic Management of a First Unprovoked Seizure in Children and Adolescents With a Focus on the Revised Diagnostic Criteria for Epilepsy. Journal of Child Neurology. 883073817706028. PMID 28503985 DOI: 10.1177/0883073817706028 |
0.302 |
|
| 2016 |
Vogel KR, Ainslie GR, Pearl PL, Gibson KM. Aberrant mTOR Signaling and Disrupted Autophagy: the Missing Link in Potential Vigabatrin-Associated Ocular Toxicity? Clinical Pharmacology and Therapeutics. PMID 27864823 DOI: 10.1002/Cpt.581 |
0.411 |
|
| 2016 |
Attri SV, Singhi P, Wiwattanadittakul N, Goswami JN, Sankhyan N, Salomons GS, Roullett JB, Hodgeman R, Parviz M, Gibson KM, Pearl PL. Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency. Jimd Reports. PMID 27815844 DOI: 10.1007/8904_2016_14 |
0.633 |
|
| 2016 |
Pearl PL. Amenable Treatable Severe Pediatric Epilepsies. Seminars in Pediatric Neurology. 23: 158-66. PMID 27544473 DOI: 10.1016/j.spen.2016.06.004 |
0.369 |
|
| 2016 |
Zeiger WA, Sun LR, Bosemani T, Pearl PL, Stafstrom CE. Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency. Pediatric Neurology. 58: 113-5. PMID 27268762 DOI: 10.1016/j.pediatrneurol.2015.10.009 |
0.566 |
|
| 2016 |
Pinto A, Sahin M, Pearl PL. Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome. F1000research. 5. PMID 27019697 DOI: 10.12688/F1000Research.7605.1 |
0.311 |
|
| 2015 |
Sansevere A, Duncan E, Loddenkemper T, Pearl P, Tasker R. 525: CONTINUOUS EEG FOR SEIZURES IN PEDIATRIC CRITICAL CARE: YIELD AND EFFICIENCY OF IDENTIFICATION. Critical Care Medicine. 43: 133. PMID 26570186 DOI: 10.1097/01.Ccm.0000474353.80653.Cb |
0.331 |
|
| 2015 |
Lapalme-Remis S, Lewis EC, De Meulemeester C, Chakraborty P, Gibson KM, Torres C, Guberman A, Salomons GS, Jakobs C, Ali-Ridha A, Parviz M, Pearl PL. Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood. Neurology. PMID 26268900 DOI: 10.1212/Wnl.0000000000001906 |
0.586 |
|
| 2015 |
Yuskaitis CJ, Parviz M, Loui P, Wan CY, Pearl PL. Neural Mechanisms Underlying Musical Pitch Perception and Clinical Applications Including Developmental Dyslexia. Current Neurology and Neuroscience Reports. 15: 574. PMID 26092314 DOI: 10.1007/S11910-015-0574-9 |
0.552 |
|
| 2014 |
Pearl PL, Parviz M, Vogel K, Schreiber J, Theodore WH, Gibson KM. Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification. Developmental Medicine and Child Neurology. PMID 25558043 DOI: 10.1111/Dmcn.12668 |
0.64 |
|
| 2014 |
Parviz M, Vogel K, Gibson KM, Pearl PL. Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies. Journal of Pediatric Epilepsy. 3: 217-227. PMID 25485164 DOI: 10.3233/Pep-14097 |
0.642 |
|
| 2014 |
Pearl PL, Gospe SM. Pyridoxine or pyridoxal-5'-phosphate for neonatal epilepsy: the distinction just got murkier. Neurology. 82: 1392-4. PMID 24658927 DOI: 10.1212/WNL.0000000000000351 |
0.565 |
|
| 2014 |
Vanderver A, Tonduti D, Kahn I, Schmidt J, Medne L, Vento J, Chapman KA, Lanpher B, Pearl P, Gropman A, Lourenco C, Bamforth JS, Sharpe C, Pineda M, Schallner J, et al. Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. American Journal of Medical Genetics. Part A. 164: 627-33. PMID 24375884 DOI: 10.1002/Ajmg.A.36309 |
0.338 |
|
| 2013 |
Vanadia E, Gibson KM, Pearl PL, Trapolino E, Mangano S, Vanadia F. Therapeutic efficacy of magnesium valproate in succinic semialdehyde dehydrogenase deficiency. Jimd Reports. 8: 133-7. PMID 23430529 DOI: 10.1007/8904_2012_170 |
0.368 |
|
| 2011 |
Kim KJ, Pearl PL, Jensen K, Snead OC, Malaspina P, Jakobs C, Gibson KM. Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance. Antioxidants & Redox Signaling. 15: 691-718. PMID 20973619 DOI: 10.1089/ars.2010.3470 |
0.35 |
|
| 2010 |
Knerr I, Gibson KM, Murdoch G, Salomons GS, Jakobs C, Combs S, Pearl PL. Neuropathology in succinic semialdehyde dehydrogenase deficiency. Pediatric Neurology. 42: 255-8. PMID 20304328 DOI: 10.1016/j.pediatrneurol.2009.11.011 |
0.367 |
|
| 2009 |
Pearl PL. New treatment paradigms in neonatal metabolic epilepsies. Journal of Inherited Metabolic Disease. 32: 204-13. PMID 19234868 DOI: 10.1007/s10545-009-1045-8 |
0.32 |
|
| 2009 |
Pearl PL, Gibson KM, Cortez MA, Wu Y, Carter Snead O, Knerr I, Forester K, Pettiford JM, Jakobs C, Theodore WH. Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men. Journal of Inherited Metabolic Disease. 32: 343-52. PMID 19172412 DOI: 10.1007/s10545-009-1034-y |
0.304 |
|
| 2007 |
Pearl PL, Gospe SM. Pyridoxal phosphate dependency, a newly recognized treatable catastrophic epileptic encephalopathy. Journal of Inherited Metabolic Disease. 30: 2-4. PMID 19165905 DOI: 10.1007/s10545-008-9974-1 |
0.572 |
|
| 2007 |
Pearl PL, Taylor JL, Trzcinski S, Sokohl A. The pediatric neurotransmitter disorders. Journal of Child Neurology. 22: 606-16. PMID 17690069 DOI: 10.1177/0883073807302619 |
0.355 |
|
| 2007 |
Knerr I, Pearl PL, Bottiglieri T, Snead OC, Jakobs C, Gibson KM. Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacology. Journal of Inherited Metabolic Disease. 30: 279-94. PMID 17457693 DOI: 10.1007/S10545-007-0574-2 |
0.329 |
|
| 2006 |
Pearl PL, Hartka TR, Cabalza JL, Taylor J, Gibson MK. Inherited disorders of GABA metabolism. Future Neurology. 1: 631-636. PMID 23842532 DOI: 10.2217/14796708.1.5.631 |
0.311 |
|
| 2006 |
Pearl PL, Hartka TR, Taylor J. Diagnosis and treatment of neurotransmitter disorders. Current Treatment Options in Neurology. 8: 441-50. PMID 17032564 DOI: 10.1007/s11940-006-0033-7 |
0.359 |
|
| 2005 |
Pearl PL, Capp PK, Novotny EJ, Gibson KM. Inherited disorders of neurotransmitters in children and adults. Clinical Biochemistry. 38: 1051-8. PMID 16298354 DOI: 10.1016/j.clinbiochem.2005.09.012 |
0.352 |
|
| 2005 |
Gibson KM, Jakobs C, Pearl PL, Snead OC. Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotype. Iubmb Life. 57: 639-44. PMID 16203683 DOI: 10.1080/15216540500264588 |
0.314 |
|
| 2005 |
Delorme R, Betancur C, Wagner M, Krebs MO, Gorwood P, Pearl P, Nygren G, Durand CM, Buhtz F, Pickering P, Melke J, Ruhrmann S, Anckarsäter H, Chabane N, Kipman A, et al. Support for the association between the rare functional variant I425V of the serotonin transporter gene and susceptibility to obsessive compulsive disorder. Molecular Psychiatry. 10: 1059-61. PMID 16088327 DOI: 10.1038/Sj.Mp.4001728 |
0.308 |
|
| 2005 |
Pearl PL, Bennett HD, Khademian Z. Seizures and metabolic disease. Current Neurology and Neuroscience Reports. 5: 127-33. PMID 15743550 |
0.311 |
|
| 2004 |
Dervent A, Gibson KM, Pearl PL, Salomons GS, Jakobs C, Yalcinkaya C. Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency. Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology. 115: 1417-22. PMID 15134710 DOI: 10.1016/j.clinph.2004.01.002 |
0.37 |
|
| 2004 |
Pearl PL, Gibson KM. Clinical aspects of the disorders of GABA metabolism in children. Current Opinion in Neurology. 17: 107-13. PMID 15021235 DOI: 10.1097/00019052-200404000-00005 |
0.48 |
|
| 2004 |
Pearl PL, Wallis DD, Gibson KM. Pediatric neurotransmitter diseases. Current Neurology and Neuroscience Reports. 4: 147-52. PMID 14984687 |
0.323 |
|
| 2003 |
Pearl PL, Novotny EJ, Acosta MT, Jakobs C, Gibson KM. Succinic semialdehyde dehydrogenase deficiency in children and adults. Annals of Neurology. 54: S73-80. PMID 12891657 DOI: 10.1002/ana.10629 |
0.376 |
|
| 2003 |
Pearl PL, Gibson KM, Acosta MT, Vezina LG, Theodore WH, Rogawski MA, Novotny EJ, Gropman A, Conry JA, Berry GT, Tuchman M. Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. Neurology. 60: 1413-7. PMID 12743223 DOI: 10.1212/01.Wnl.0000059549.70717.80 |
0.333 |
|
| 2001 |
Pearl PL, Carrazana EJ, Holmes GL. The Landau-Kleffner Syndrome. Epilepsy Currents / American Epilepsy Society. 1: 39-45. PMID 15309183 DOI: 10.1046/j.1535-7597.2001.00012.x |
0.498 |
|
| 2001 |
Pearl PL, Krasnewich D. Neurologic course of congenital disorders of glycosylation Journal of Child Neurology. 16: 409-413. PMID 11417605 |
0.311 |
|
| 1988 |
Butler IJ, Rouah E, Pearl P. Dementia, rigidity and seizures in an adolescent boy. Pediatric Neuroscience. 14: 307-14. PMID 3270052 DOI: 10.1159/000120410 |
0.315 |
|
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