Phillip Pearl - Publications

Affiliations: 
2014- Neurology Harvard Medical School - Boston Children's Hospital 

120 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2020 Kirby T, Walters DC, Shi X, Turgeon C, Rinaldo P, Arning E, Ashcraft P, Bottiglieri T, DiBacco M, Pearl PL, Roullet JB, Gibson KM. Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency. Orphanet Journal of Rare Diseases. 15: 261. PMID 32967698 DOI: 10.1186/s13023-020-01522-5  0.4
2020 DiBacco ML, Pop A, Salomons GS, Hanson E, Roullet JB, Gibson KM, Pearl PL. Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency. Neurology. PMID 32887777 DOI: 10.1212/WNL.0000000000010730  0.48
2020 Vernau KM, Struys E, Letko A, Woolard KD, Aguilar M, Brown EA, Cissell DD, Dickinson PJ, Shelton GD, Broome MR, Gibson KM, Pearl PL, König F, Van Winkle TJ, O'Brien D, et al. A Missense Variant in Associated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki Dog. Genes. 11. PMID 32887425 DOI: 10.3390/genes11091033  0.4
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  0.4
2019 DiBacco ML, Roullet JB, Kapur K, Brown MN, Walters DC, Gibson KM, Pearl PL. Age-related phenotype and biomarker changes in SSADH deficiency. Annals of Clinical and Translational Neurology. 6: 114-120. PMID 30656189 DOI: 10.1002/acn3.696  0.4
2017 Koenig MK, Hodgeman R, Riviello JJ, Chung W, Bain J, Chiriboga CA, Ichikawa K, Osaka H, Tsuji M, Gibson KM, Bonnen PE, Pearl PL. Phenotype of GABA-transaminase deficiency. Neurology. PMID 28411234 DOI: 10.1212/WNL.0000000000003936  0.48
2017 Johansen SS, Wang X, Sejer Pedersen D, Pearl PL, Roullet JB, Ainslie GR, Vogel KR, Gibson KM. Gamma-Hydroxybutyrate (GHB) Content in Hair Samples Correlates Negatively with Age in Succinic Semialdehyde Dehydrogenase Deficiency. Jimd Reports. PMID 28213850 DOI: 10.1007/8904_2017_3  0.4
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  0.4
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  0.48
2016 Jansen EE, Vogel KR, Salomons GS, Pearl PL, Roullet JB, Gibson KM. Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism. Journal of Inherited Metabolic Disease. PMID 27686230 DOI: 10.1007/s10545-016-9980-7  0.48
2016 Schreiber JM, Pearl PL, Dustin I, Wiggs E, Barrios E, Wassermann EM, Gibson KM, Theodore WH. Biomarkers in a Taurine Trial for Succinic Semialdehyde Dehydrogenase Deficiency. Jimd Reports. PMID 27338723 DOI: 10.1007/8904_2015_524  0.4
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  0.48
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  0.48
2015 Rodan LH, Gibson KM, Pearl PL. Clinical Use of CSF Neurotransmitters. Pediatric Neurology. PMID 26194033 DOI: 10.1016/j.pediatrneurol.2015.04.016  0.4
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  0.4
2015 Whitehead MT, Nagaraj UD, Pearl PL. Neuroimaging features of Cornelia de Lange syndrome. Pediatric Radiology. 45: 1198-205. PMID 25701113 DOI: 10.1007/s00247-015-3300-5  0.96
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  0.96
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  0.48
2014 Pearl PL, McConnell ER, Fernandez R, Brooks-Kayal A. Survey of the professors of child neurology: neurology versus pediatrics home for child neurology. Pediatric Neurology. 51: 344-7. PMID 24993248 DOI: 10.1016/j.pediatrneurol.2014.05.028  0.96
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  0.96
2014 Pearl PL, Schreiber J, Theodore WH, McCarter R, Barrios ES, Yu J, Wiggs E, He J, Gibson KM. Taurine trial in succinic semialdehyde dehydrogenase deficiency and elevated CNS GABA. Neurology. 82: 940-4. PMID 24523482 DOI: 10.1212/WNL.0000000000000210  0.96
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  0.96
2014 Bosemani T, Anghelescu C, Boltshauser E, Hoon AH, Pearl PL, Craiu D, Johnston MV, Huisman TA, Poretti A. Subthalamic nucleus involvement in children: a neuroimaging pattern-recognition approach. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. 18: 249-56. PMID 24149100 DOI: 10.1016/j.ejpn.2013.09.010  0.96
2014 Vanderver A, Simons C, Schmidt JL, Pearl PL, Bloom M, Lavenstein B, Miller D, Grimmond SM, Taft RJ. Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy. Pediatric Neurology. 50: 112-4. PMID 24120652 DOI: 10.1016/j.pediatrneurol.2013.06.024  0.96
2014 Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Anselm I, Collins A, Cohen BH, DeBrosse SD, Dimmock D, Falk MJ, Ganesh J, ... ... Pearl PL, et al. Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges. Mitochondrion. 14: 26-33. PMID 23891656 DOI: 10.1016/j.mito.2013.07.116  0.96
2014 Pearl PL, Gibson KM. Gamma-Amino butyric acid pathway disorders Congenital Neurotransmitter Disorders: a Clinical Approach. 133-147.  0.4
2013 Pearl PL, McCarter R, McGavin CL, Yu Y, Sandoval F, Trzcinski S, Atabaki SM, Tsuchida T, van den Anker J, He J, Klein P. Results of phase II levetiracetam trial following acute head injury in children at risk for posttraumatic epilepsy. Epilepsia. 54: e135-7. PMID 23876024 DOI: 10.1111/epi.12326  0.96
2013 Forni S, Pearl PL, Gibson KM, Yu Y, Sweetman L. Response to Stove and colleagues concerning newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency in dried blood spots. Molecular Genetics and Metabolism. 110: 196. PMID 23867525 DOI: 10.1016/j.ymgme.2013.06.018  0.96
2013 Forni S, Pearl PL, Gibson KM, Yu Y, Sweetman L. Quantitation of gamma-hydroxybutyric acid in dried blood spots: feasibility assessment for newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency. Molecular Genetics and Metabolism. 109: 255-9. PMID 23742746 DOI: 10.1016/j.ymgme.2013.05.002  0.96
2013 Salpekar JA, Berl MM, Havens K, Cushner-Weinstein S, Conry JA, Pearl PL, Yaun AL, Gaillard WD. Psychiatric symptoms in children prior to epilepsy surgery differ according to suspected seizure focus. Epilepsia. 54: 1074-82. PMID 23662984 DOI: 10.1111/epi.12205  0.96
2013 Pearl PL. Monoamine neurotransmitter deficiencies. Handbook of Clinical Neurology. 113: 1819-25. PMID 23622404 DOI: 10.1016/B978-0-444-59565-2.00051-4  0.96
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  0.4
2013 Vogel KR, Pearl PL, Theodore WH, McCarter RC, Jakobs C, Gibson KM. Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. Journal of Inherited Metabolic Disease. 36: 401-10. PMID 22739941 DOI: 10.1007/s10545-012-9499-5  0.96
2013 Pearl PL, Yu Y. Inherited pediatric metabolic epilepsies Expert Opinion On Orphan Drugs. 1: 115-129. DOI: 10.1517/21678707.2013.758580  0.96
2012 Pearl PL. Comment: Right-sizing adult neurology training for the child neurologist. Neurology. 79: 819. PMID 22786598 DOI: 10.1212/WNL.0b013e31825f9d2a  0.96
2012 Klein P, Herr D, Pearl PL, Natale J, Levine Z, Nogay C, Sandoval F, Trzcinski S, Atabaki SM, Tsuchida T, van den Anker J, Soldin SJ, He J, McCarter R. Results of phase 2 safety and feasibility study of treatment with levetiracetam for prevention of posttraumatic epilepsy. Archives of Neurology. 69: 1290-5. PMID 22777131 DOI: 10.1001/archneurol.2012.445  0.96
2012 Klein P, Herr D, Pearl PL, Natale J, Levine Z, Nogay C, Sandoval F, Trzcinsky S, Atabaki SM, Tsuchida T, van den Anker J, Soldin SJ, He J, McCarter R. Results of phase II pharmacokinetic study of levetiracetam for prevention of post-traumatic epilepsy. Epilepsy & Behavior : E&B. 24: 457-61. PMID 22771222 DOI: 10.1016/j.yebeh.2012.05.011  0.96
2012 Reis J, Cohen LG, Pearl PL, Fritsch B, Jung NH, Dustin I, Theodore WH. GABAB-ergic motor cortex dysfunction in SSADH deficiency. Neurology. 79: 47-54. PMID 22722631 DOI: 10.1212/WNL.0b013e31825dcf71  0.96
2012 Duke ES, Tesfaye M, Berl MM, Walker JE, Ritzl EK, Fasano RE, Conry JA, Pearl PL, Sato S, Theodore WH, Gaillard WD. The effect of seizure focus on regional language processing areas. Epilepsia. 53: 1044-50. PMID 22554135 DOI: 10.1111/j.1528-1167.2012.03490.x  0.96
2012 Combs SE, Pearl PL. Classification and Definition of Seizures and Epilepsy Syndromes in Childhood Epilepsy in Children and Adolescents. 17-36. DOI: 10.1002/9781119998600.ch2  0.96
2011 Pearl PL, Drillings IM, Conry JA. Herbs in epilepsy: evidence for efficacy, toxicity, and interactions. Seminars in Pediatric Neurology. 18: 203-8. PMID 22062945 DOI: 10.1016/j.spen.2011.06.007  0.96
2011 Pearl PL, Shukla L, Theodore WH, Jakobs C, Michael Gibson K. Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. Brain & Development. 33: 796-805. PMID 21664777 DOI: 10.1016/j.braindev.2011.04.013  0.96
2011 Pearl PL, Pettiford JM, Combs SE, Heffron A, Healton S, Hovaguimian A, Macri CJ. Assessment of genetics knowledge and skills in medical students: insight for a clinical neurogenetics curriculum. Biochemistry and Molecular Biology Education : a Bimonthly Publication of the International Union of Biochemistry and Molecular Biology. 39: 191-5. PMID 21618382 DOI: 10.1002/bmb.20489  0.96
2011 Freilich ER, Jones JM, Gaillard WD, Conry JA, Tsuchida TN, Reyes C, Dib-Hajj S, Waxman SG, Meisler MH, Pearl PL. Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy. Archives of Neurology. 68: 665-71. PMID 21555645 DOI: 10.1001/archneurol.2011.98  0.96
2011 Pearl PL, Miller AK, Khademian Z. Uveitis and pediatric sarcoidosis: Does IgG really matter? Reply Archives of Neurology. 68: 136-137. PMID 21220689 DOI: 10.1001/archneurol.2010.329  0.96
2011 Packer RJ, Villongco J, Batshaw M, Holbrook P, Gaillard WD, Pearl PL, Weinstein S, Zechman E. Center for Neuroscience and Behavioral Medicine: an innovative administrative structure and possible paradigm for the future. Pediatric Neurology. 44: 1-9. PMID 21147380 DOI: 10.1016/j.pediatrneurol.2010.07.007  0.96
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  0.96
2010 Miller AK, Khademian Z, Pearl PL. Uveitis and white matter abnormalities in pediatric sarcoidosis. Archives of Neurology. 67: 890-1. PMID 20625101 DOI: 10.1001/archneurol.2010.127  0.96
2010 Acosta MT, Munasinghe J, Pearl PL, Gupta M, Finegersh A, Gibson KM, Theodore WH. Cerebellar atrophy in human and murine succinic semialdehyde dehydrogenase deficiency. Journal of Child Neurology. 25: 1457-61. PMID 20445195 DOI: 10.1177/0883073810368137  0.96
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  0.96
2009 Pearl PL, Shamim S, Theodore WH, Gibson KM, Forester K, Combs SE, Lewin D, Dustin I, Reeves-Tyer P, Jakobs C, Sato S. Polysomnographic abnormalities in succinic semialdehyde dehydrogenase (SSADH) deficiency. Sleep. 32: 1645-8. PMID 20041601  0.96
2009 Pearl PL, Gibson KM, Quezado Z, Dustin I, Taylor J, Trzcinski S, Schreiber J, Forester K, Reeves-Tyer P, Liew C, Shamim S, Herscovitch P, Carson R, Butman J, Jakobs C, et al. Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency. Neurology. 73: 423-9. PMID 19667317 DOI: 10.1212/WNL.0b013e3181b163a5  0.96
2009 Pearl PL. Neurological problems of jazz legends. Journal of Child Neurology. 24: 1037-42. PMID 19666887 DOI: 10.1177/0883073809332765  0.96
2009 Rosenberger LR, Zeck J, Berl MM, Moore EN, Ritzl EK, Shamim S, Weinstein SL, Conry JA, Pearl PL, Sato S, Vezina LG, Theodore WH, Gaillard WD. Interhemispheric and intrahemispheric language reorganization in complex partial epilepsy. Neurology. 72: 1830-6. PMID 19470965 DOI: 10.1212/WNL.0b013e3181a7114b  0.96
2009 Hsieh DT, Pearl PL. Teaching Video NeuroImages: preserved awareness in a frontal seizure with bilateral motor involvement: a psychogenic mimic. Neurology. 72: e56. PMID 19307535 DOI: 10.1212/01.wnl.0000345004.84188.b9  0.96
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  0.96
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  0.96
2009 Mbwana J, Berl MM, Ritzl EK, Rosenberger L, Mayo J, Weinstein S, Conry JA, Pearl PL, Shamim S, Moore EN, Sato S, Vezina LG, Theodore WH, Gaillard WD. Limitations to plasticity of language network reorganization in localization related epilepsy. Brain : a Journal of Neurology. 132: 347-56. PMID 19059978 DOI: 10.1093/brain/awn329  0.96
2009 Pearl PL, Vezina LG, Saneto RP, McCarter R, Molloy-Wells E, Heffron A, Trzcinski S, McClintock WM, Conry JA, Elling NJ, Goodkin HP, de Menezes MS, Ferri R, Gilles E, Kadom N, et al. Cerebral MRI abnormalities associated with vigabatrin therapy. Epilepsia. 50: 184-94. PMID 18783433 DOI: 10.1111/j.1528-1167.2008.01728.x  0.96
2008 Hsieh DT, Gropman AL, Pearl PL. A 2-year-old male with developmental delay, irritability, and failure to thrive. Pediatric Annals. 37: 459-60, 463. PMID 18710135 DOI: 10.3928/00904481-20080701-01  0.96
2008 Knerr I, Gibson KM, Jakobs C, Pearl PL. Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients. Cns Spectrums. 13: 598-605. PMID 18622364  0.96
2008 Hsieh DT, Walker JM, Pearl PL. Infantile seizures: infants are not just little children. Current Neurology and Neuroscience Reports. 8: 139-44. PMID 18460282 DOI: 10.1007/s11910-008-0022-1  0.96
2008 Cushner-Weinstein S, Dassoulas K, Salpekar JA, Henderson SE, Pearl PL, Gaillard WD, Weinstein SL. Parenting stress and childhood epilepsy: the impact of depression, learning, and seizure-related factors. Epilepsy & Behavior : E&B. 13: 109-14. PMID 18442950 DOI: 10.1016/j.yebeh.2008.03.010  0.96
2008 Knerr I, Pearl PL. Ketogenic diet: stoking energy stores and still posing questions. Experimental Neurology. 211: 11-3. PMID 18374334 DOI: 10.1016/j.expneurol.2008.01.015  0.96
2008 Pearl PL, Conry JA, Yaun A, Taylor JL, Heffron AM, Sigman M, Tsuchida TN, Elling NJ, Bruce DA, Gaillard WD. Misidentification of vagus nerve stimulator for intravenous access and other major adverse events. Pediatric Neurology. 38: 248-51. PMID 18358402 DOI: 10.1016/j.pediatrneurol.2007.12.002  0.96
2008 Melke J, Goubran Botros H, Chaste P, Betancur C, Nygren G, Anckarsäter H, Rastam M, Ståhlberg O, Gillberg IC, Delorme R, Chabane N, Mouren-Simeoni MC, Fauchereau F, Durand CM, Chevalier F, ... ... Pearl PL, et al. Abnormal melatonin synthesis in autism spectrum disorders Molecular Psychiatry. 13: 90-98. PMID 17505466 DOI: 10.1038/sj.mp.4002016  0.96
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  0.96
2007 Gaillard WD, Berl MM, Moore EN, Ritzl EK, Rosenberger LR, Weinstein SL, Conry JA, Pearl PL, Ritter FF, Sato S, Vezina LG, Vaidya CJ, Wiggs E, Fratalli C, Risse G, et al. Atypical language in lesional and nonlesional complex partial epilepsy. Neurology. 69: 1761-71. PMID 17967992 DOI: 10.1212/01.wnl.0000289650.48830.1a  0.96
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  0.96
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  0.96
2007 Gaillard WD, Weinstein S, Conry J, Pearl PL, Fazilat S, Fazilat S, Vezina LG, Reeves-Tyer P, Theodore WH. Prognosis of children with partial epilepsy: MRI and serial 18FDG-PET. Neurology. 68: 655-9. PMID 17325271 DOI: 10.1212/01.wnl.0000255942.25101.8d  0.96
2007 Cushner-Weinstein S, Berl M, Salpekar JA, Johnson JL, Pearl PL, Conry JA, Kolodgie M, Scully A, Gaillard WD, Weinstein SL. The benefits of a camp designed for children with epilepsy: evaluating adaptive behaviors over 3 years. Epilepsy & Behavior : E&B. 10: 170-8. PMID 17145202 DOI: 10.1016/j.yebeh.2006.10.007  0.96
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  0.96
2006 Salpekar JA, Conry JA, Doss W, Cushner-Weinstein S, Pearl PL, Weinstein SL, Gaillard WD. Clinical experience with anticonvulsant medication in pediatric epilepsy and comorbid bipolar spectrum disorder. Epilepsy & Behavior : E&B. 9: 327-34. PMID 16861047 DOI: 10.1016/j.yebeh.2006.06.004  0.96
2006 Pearl PL, McClintock WM. Addendum to assessment: prevention of post-lumbar puncture headaches: report of the TTAS of the AAN. Neurology. 66: 1285; author reply 1. PMID 16636263 DOI: 10.1212/01.wnl.0000222493.48454.93  0.96
2006 Donarum EA, Stephan DA, Larkin K, Murphy EJ, Gupta M, Senephansiri H, Switzer RC, Pearl PL, Snead OC, Jakobs C, Gibson KM. Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency. Journal of Inherited Metabolic Disease. 29: 143-56. PMID 16601881 DOI: 10.1007/s10545-006-0247-6  0.96
2005 Berl MM, Balsamo LM, Xu B, Moore EN, Weinstein SL, Conry JA, Pearl PL, Sachs BC, Grandin CB, Frattali C, Ritter FJ, Sato S, Theodore WH, Gaillard WD. Seizure focus affects regional language networks assessed by fMRI. Neurology. 65: 1604-11. PMID 16301489 DOI: 10.1212/01.wnl.0000184502.06647.28  0.96
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  0.96
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  0.96
2005 Pearl PL, Robbins EL, Bennett HD, Conry JA. Use of complementary and alternative therapies in epilepsy: cause for concern. Archives of Neurology. 62: 1472-5. PMID 16157759 DOI: 10.1001/archneur.62.9.1472  0.96
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  0.96
2005 Capp PK, Pearl PL, Conlon C. Methylphenidate HCl: therapy for attention deficit hyperactivity disorder. Expert Review of Neurotherapeutics. 5: 325-31. PMID 15938665 DOI: 10.1586/14737175.5.3.325  0.96
2005 Capp PK, Pearl PL, Lewin D. Pediatric sleep disorders. Primary Care. 32: 549-62. PMID 15935200 DOI: 10.1016/j.pop.2005.02.005  0.96
2005 Pearl PL, Bennett HD, Khademian Z. Seizures and metabolic disease. Current Neurology and Neuroscience Reports. 5: 127-33. PMID 15743550  0.96
2004 Acosta MT, Pearl PL. Imaging data in autism: from structure to malfunction. Seminars in Pediatric Neurology. 11: 205-13. PMID 15575415 DOI: 10.1016/j.spen.2004.07.004  0.96
2004 Gaillard WD, Balsamo L, Xu B, McKinney C, Papero PH, Weinstein S, Conry J, Pearl PL, Sachs B, Sato S, Vezina LG, Frattali C, Theodore WH. fMRI language task panel improves determination of language dominance. Neurology. 63: 1403-8. PMID 15505156  0.96
2004 Barakat AJ, Pearl PL, Acosta MT, Runkle BP. 22q13 deletion syndrome with central diabetes insipidus: a previously unreported association. Clinical Dysmorphology. 13: 191-4. PMID 15194959 DOI: 10.1097/01.mcd.0000134479.65125.08  0.96
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  0.96
2004 Pearl PL, Gropman A. Monitoring gamma-hydroxybutyric acid levels in succinate-semialdehyde dehydrogenase deficiency. Annals of Neurology. 55: 599; author reply 59. PMID 15048909 DOI: 10.1002/ana.20084  0.96
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  0.96
2004 Pearl PL, Wallis DD, Gibson KM. Pediatric neurotransmitter diseases. Current Neurology and Neuroscience Reports. 4: 147-52. PMID 14984687  0.96
2003 Stein MA, Sarampote CS, Waldman ID, Robb AS, Conlon C, Pearl PL, Black DO, Seymour KE, Newcorn JH. A dose-response study of OROS methylphenidate in children with attention-deficit/hyperactivity disorder. Pediatrics. 112: e404. PMID 14595084  0.96
2003 Pearl PL. Sleep problems, stimulants, and ADHD: true, true, unrelated? Sleep Medicine. 4: 271-2. PMID 14592297 DOI: 10.1016/S1389-9457(03)00070-4  0.96
2003 Gibson KM, Gupta M, Pearl PL, Tuchman M, Vezina LG, Snead OC, Smit LM, Jakobs C. Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria). Biological Psychiatry. 54: 763-8. PMID 14512218 DOI: 10.1016/S0006-3223(03)00113-6  0.96
2003 Gupta M, Hogema BM, Grompe M, Bottiglieri TG, Concas A, Biggio G, Sogliano C, Rigamonti AE, Pearl PL, Snead OC, Jakobs C, Gibson KM. Murine succinate semialdehyde dehydrogenase deficiency. Annals of Neurology. 54: S81-90. PMID 12891658 DOI: 10.1002/ana.10625  0.96
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  0.96
2003 Novotny EJ, Fulbright RK, Pearl PL, Gibson KM, Rothman DL. Magnetic resonance spectroscopy of neurotransmitters in human brain. Annals of Neurology. 54: S25-31. PMID 12891651 DOI: 10.1002/ana.10697  0.96
2003 Rotenberg J, Pearl PL. Landau-Kleffner syndrome. Archives of Neurology. 60: 1019-21. PMID 12873863 DOI: 10.1001/archneur.60.7.1019  0.96
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  0.96
2003 Jamain S, Quach H, Betancur C, RÃ¥stam M, Colineaux C, Gillberg IC, Soderstrom H, Giros B, Leboyer M, Gillberg C, Bourgeron T. Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nature Genetics. 34: 27-9. PMID 12669065 DOI: 10.1038/ng1136  0.96
2003 Efron LA, Pearl PL. Too much energy for rest. Sleep problems in children with ADHD. Advance For Nurse Practitioners. 11: 57-8, 91. PMID 12640820  0.96
2003 Acosta MT, Pearl PL. The neurobiology of autism: new pieces of the puzzle. Current Neurology and Neuroscience Reports. 3: 149-56. PMID 12583844  0.96
2002 Pearl PL, LaFleur BJ, Reigle SC, Rich AS, Freeman AA, McCutchen C, Sato S. Sawtooth wave density analysis during REM sleep in normal volunteers. Sleep Medicine. 3: 255-8. PMID 14592215 DOI: 10.1016/S1389-9457(01)00142-3  0.96
2002 Krebs MO, Betancur C, Leroy S, Bourdel MC, Gillberg C, Leboyer M, Philippe A, Colineaux C, Chabane N, Mouren-Siméoni MC, Brice A, Råstam M, Nydén A, Sponheim E, Spurkland I, ... ... Pearl PL, et al. Absence of association between a polymorphic GGC repeat in the 5′ untranslated region of the reelin gene and autism Molecular Psychiatry. 7: 801-804. PMID 12192627 DOI: 10.1038/sj.mp.4001071  0.96
2002 Gaillard WD, Balsamo L, Xu B, Grandin CB, Braniecki SH, Papero PH, Weinstein S, Conry J, Pearl PL, Sachs B, Sato S, Jabbari B, Vezina LG, Frattali C, Theodore WH. Language dominance in partial epilepsy patients identified with an fMRI reading task. Neurology. 59: 256-65. PMID 12136067  0.96
2002 Sarampote CS, Efron LA, Robb AS, Pearl PL, Stein MA. Can stimulant rebound mimic pediatric bipolar disorder? Journal of Child and Adolescent Psychopharmacology. 12: 63-7. PMID 12014597 DOI: 10.1089/10445460252943588  0.96
2002 Pearl PL, Efron L, Stein MA. Children, sleep, and behavior: a complex association. Minerva Pediatrica. 54: 79-91. PMID 11981523  0.96
2002 Pearl PL. Childhood sleep disorders: diagnostic and therapeutic approaches. Current Neurology and Neuroscience Reports. 2: 150-7. PMID 11898482  0.96
2002 Gaillard WD, Kopylev L, Weinstein S, Conry J, Pearl PL, Spanaki MV, Fazilat S, Fazilat S, Venzina LG, Dubovsky E, Theodore WH. Low incidence of abnormal (18)FDG-PET in children with new-onset partial epilepsy: a prospective study. Neurology. 58: 717-22. PMID 11889233  0.96
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  0.48
2001 Pearl PL, Weiss RE, Stein MA. Medical mimics. Medical and neurological conditions simulating ADHD. Annals of the New York Academy of Sciences. 931: 97-112. PMID 11462759  0.96
2001 Pearl PL, Krasnewich D. Neurologic course of congenital disorders of glycosylation Journal of Child Neurology. 16: 409-413. PMID 11417605  0.96
1999 Cadavid D, Pearl PL, Dubovsky EC, Angiolillo A, Vezina LG. Stroke after zoster ophthalmicus in a 12-year-old girl with protein C deficiency Neurology. 53: 1128-1129. PMID 10496280  0.96
1999 Philippe A, Martinez M, Guilloud-Bataille M, Gillberg C, RÃ¥stam M, Sponheim E, Coleman M, Zappella M, Aschauer H, Van Maldergem L, Penet C, Feingold J, Brice A, Leboyer M, van Malldergerme L. Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study. Human Molecular Genetics. 8: 805-12. PMID 10196369  0.96
1996 Pearl P, Coleman M. Autosomal chromosome disorders and autism Developmental Brain Dysfunction. 9: 224-229.  0.96
1990 Pearl PL, Abu-Farsakh H, Starke JR, Dreyer Z, Louis PT, Kirkpatrick JB. Neuropathology of two fatal cases of measles in the 1988-1989 Houston epidemic. Pediatric Neurology. 6: 126-30. PMID 2340030 DOI: 10.1016/0887-8994(90)90046-4  0.96
1988 Butler IJ, Rouah E, Pearl P. Dementia, rigidity and seizures in an adolescent boy. Pediatric Neuroscience. 14: 307-14. PMID 3270052  0.96
1988 Pearl PL, Percy AK. Rett syndrome Current Opinion in Neurology and Neurosurgery. 1: 327-331.  0.96
1987 Pearl PL. Childhood stroke following intraoral trauma The Journal of Pediatrics. 110: 574-575. PMID 3559807 DOI: 10.1016/S0022-3476(87)80554-1  0.96
1979 Frees LC, Pearl PL, Koski WS. Cross section for the reaction Cl+ (CO,O) CCl+: heat of formation of CCl+ Chemical Physics Letters. 63: 108-110. DOI: 10.1016/0009-2614(79)80468-6  0.96
Show low-probability matches.