Sidney M. Gospe, M.D., Ph.D. - Publications

Affiliations: 
Neurology and Pediatrics University of Washington, Seattle, Seattle, WA 
Area:
child neurology, neurotoxicology, neurogenetics
Website:
http://depts.washington.edu/neurolog/directory/faculty/facultypage.php?id=30

32/152 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 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, 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  0.499
2018 Coughlin CR, Swanson MA, Spector E, Meeks NJL, Kronquist KE, Aslamy M, Wempe MF, van Karnebeek CDM, Gospe SM, Aziz VG, Tsai BP, Gao H, Nagy PL, Hyland K, van Dooren SJM, et al. The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy. Journal of Inherited Metabolic Disease. PMID 30043187 DOI: 10.1002/Jimd.12045  0.354
2018 Gospe SM. Developmental outcome in pyridoxine-dependent epilepsy: Better late (onset) than early. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. 22: 575-576. PMID 29887411 DOI: 10.1016/j.ejpn.2018.05.004  0.301
2018 Oesch G, Maga AM, Friedman SD, Poliachik SL, Budech CB, Wright JN, Bok LA, Gospe SM. Geometric morphometrics reveal altered corpus callosum shape in pyridoxine-dependent epilepsy. Neurology. PMID 29875223 DOI: 10.1212/Wnl.0000000000005748  0.335
2015 Mefford HC, Zemel M, Geraghty E, Cook J, Clayton PT, Paul K, Plecko B, Mills PB, Nordli DR, Gospe SM. Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination. Neurology. 85: 756-62. PMID 26224730 DOI: 10.1212/Wnl.0000000000001883  0.369
2014 Friedman SD, Ishak GE, Poliachik SL, Poliakov AV, Otto RK, Shaw DW, Willemsen MA, Bok LA, Gospe SM. Callosal alterations in pyridoxine-dependent epilepsy. Developmental Medicine and Child Neurology. 56: 1106-10. PMID 24942048 DOI: 10.1111/Dmcn.12511  0.351
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  0.541
2013 Tully HM, Dempsey JC, Ishak GE, Adam MP, Mink JW, Dobyns WB, Gospe SM, Weiss A, Phillips JO, Doherty D. Persistent figure-eight and side-to-side head shaking is a marker for rhombencephalosynapsis. Movement Disorders : Official Journal of the Movement Disorder Society. 28: 2019-23. PMID 24105968 DOI: 10.1002/Mds.25634  0.462
2013 Tuschl K, Clayton P, Gospe S, Shamshad G, Ibrahim S, Singhi P, Ribeiro R, Zaki, Rosario MLd, Dyack S, Price V, Wevers R, Mills P. The first inborn error of manganese metabolism caused by mutations in SLC30A10, a newly identified manganese transporter The Lancet. 381. DOI: 10.1016/S0140-6736(13)60550-4  0.311
2012 Mefford HC, Cook J, Gospe SM. Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy. American Journal of Medical Genetics. Part A. 158: 3190-5. PMID 23166088 DOI: 10.1002/ajmg.a.35633  0.396
2012 van Karnebeek CD, Hartmann H, Jaggumantri S, Bok LA, Cheng B, Connolly M, Coughlin CR, Das AM, Gospe SM, Jakobs C, van der Lee JH, Mercimek-Mahmutoglu S, Meyer U, Struys E, Sinclair G, et al. Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials. Molecular Genetics and Metabolism. 107: 335-44. PMID 23022070 DOI: 10.1016/j.ymgme.2012.09.006  0.333
2012 Gospe SM. Natural history of pyridoxine-dependent epilepsy: tools for prognostication. Developmental Medicine and Child Neurology. 54: 781-2. PMID 22803601 DOI: 10.1111/j.1469-8749.2012.04354.x  0.312
2011 Stockler S, Plecko B, Gospe SM, Coulter-Mackie M, Connolly M, van Karnebeek C, Mercimek-Mahmutoglu S, Hartmann H, Scharer G, Struijs E, Tein I, Jakobs C, Clayton P, Van Hove JL. Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. Molecular Genetics and Metabolism. 104: 48-60. PMID 21704546 DOI: 10.1016/j.ymgme.2011.05.014  0.352
2011 Segal EB, Grinspan ZM, Mandel AM, Gospe SM. Biomarkers aiding diagnosis of atypical presentation of pyridoxine-dependent epilepsy. Pediatric Neurology. 44: 289-91. PMID 21397171 DOI: 10.1016/j.pediatrneurol.2010.11.012  0.394
2010 Martin ET, Kerin T, Christakis DA, Blume HK, Gospe SM, Vinje J, Bowen MD, Gentsch J, Zerr DM. Redefining outcome of first seizures by acute illness. Pediatrics. 126: e1477-84. PMID 21098153 DOI: 10.1542/Peds.2010-1138  0.352
2010 Gospe SM. Pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency: unique clinical symptoms and non-specific EEG characteristics. Developmental Medicine and Child Neurology. 52: 602-3. PMID 20412262 DOI: 10.1111/j.1469-8749.2010.03668.x  0.319
2009 Sadilkova K, Gospe SM, Hahn SH. Simultaneous determination of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate and pipecolic acid by LC-MS/MS for pyridoxine-dependent seizures and folinic acid-responsive seizures. Journal of Neuroscience Methods. 184: 136-41. PMID 19631689 DOI: 10.1016/j.jneumeth.2009.07.019  0.304
2009 Basura GJ, Hagland SP, Wiltse AM, Gospe SM. Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry. European Journal of Pediatrics. 168: 697-704. PMID 18762976 DOI: 10.1007/s00431-008-0823-x  0.369
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  0.567
2006 Gospe SM. Pyridoxine-dependent seizures: new genetic and biochemical clues to help with diagnosis and treatment. Current Opinion in Neurology. 19: 148-53. PMID 16538088 DOI: 10.1097/01.wco.0000218230.81301.12  0.41
2005 Zerr DM, Blume HK, Berg AT, Del Beccaro MA, Gospe SM, Allpress AL, Christakis DA. Nonfebrile illness seizures: a unique seizure category? Epilepsia. 46: 952-5. PMID 15946338 DOI: 10.1111/j.1528-1167.2005.65204.x  0.355
2005 Allan WC, Gospe SM. Seizures, syncope, or breath-holding presenting to the pediatric neurologist--when is the etiology a life-threatening arrhythmia? Seminars in Pediatric Neurology. 12: 2-9. PMID 15929459 DOI: 10.1016/j.spen.2004.11.004  0.332
2003 Baynes K, Farias ST, Gospe SM. Pyridoxine-dependent seizures and cognition in adulthood. Developmental Medicine and Child Neurology. 45: 782-5. PMID 14580135 DOI: 10.1017/S0012162203001440  0.359
2002 Gospe SM. Pyridoxine-dependent seizures: findings from recent studies pose new questions. Pediatric Neurology. 26: 181-5. PMID 11955923 DOI: 10.1016/S0887-8994(01)00407-6  0.373
1998 Gospe SM, El-Schahawi M, Shanske S, Bruno C, DiMauro S, Hoye E, Walsh DA, Gorin FA. Asymptomatic McArdle's disease associated with hyper-creatine kinase-emia and absence of myophosphorylase. Neurology. 51: 1228-9. PMID 9781574 DOI: 10.1212/Wnl.51.4.1228  0.3
1998 Gospe SM, Hecht ST. Longitudinal MRI findings in pyridoxine-dependent seizures. Neurology. 51: 74-8. PMID 9674782 DOI: 10.1212/Wnl.51.1.74  0.391
1998 Gospe SM. Current perspectives on pyridoxine-dependent seizures. The Journal of Pediatrics. 132: 919-23. PMID 9627579 DOI: 10.1016/S0022-3476(98)70384-1  0.333
1994 Gospe SM, Olin KL, Keen CL. Reduced GABA synthesis in pyridoxine-dependent seizures. Lancet. 343: 1133-4. PMID 7910233 DOI: 10.1016/0887-8994(94)90157-0  0.331
1990 Gospe SM, Gabor AJ. Electroencephalography laboratory diagnosis of prolonged QT interval. Annals of Neurology. 28: 387-90. PMID 2241121 DOI: 10.1002/ana.410280315  0.317
1989 Gospe SM, Choy M. Hereditary long Q-T syndrome presenting as epilepsy: electroencephalography laboratory diagnosis. Annals of Neurology. 25: 514-6. PMID 2774493 DOI: 10.1002/ana.410250518  0.312
1982 Gospe SM, Wilson WA. Burst-firing inhibition of cell R 15 in Aplysia californica: Pharmacological studies of the effects of tyramine, β-phenethylamine and D-amphetamine Comparative Biochemistry and Physiology. Part C, Comparative. 71: 249-254. DOI: 10.1016/0306-4492(82)90044-2  0.534
1981 Gospe SM, Cook LL, Crutcher KA, Wilson WA. Biochemical and histochemical studies of the effect of reserpine in Aplysia californica Comparative Biochemistry and Physiology. Part C, Comparative. 70: 273-276. DOI: 10.1016/0306-4492(81)90063-0  0.527
Low-probability matches (unlikely to be authored by this person)
2016 Byers HM, Beatty CW, Hahn SH, Gospe SM. Dramatic Response After Lamotrigine in a Patient With Epileptic Encephalopathy and a De NovoCACNA1A Variant. Pediatric Neurology. PMID 27212419 DOI: 10.1016/j.pediatrneurol.2016.03.012  0.299
2015 Bertini E, Gospe SM. SSADH deficiency in an adult: Venturing outside of the diagnostic box and inside of the registry. Neurology. 85: 842-3. PMID 26268899 DOI: 10.1212/WNL.0000000000001916  0.298
2000 Battaglioli G, Rosen DR, Gospe SM, Martin DL. Glutamate decarboxylase is not genetically linked to pyridoxine-dependent seizures. Neurology. 55: 309-11. PMID 10908915 DOI: 10.1212/Wnl.55.2.309  0.296
1992 Gospe SM. Routine monitoring of the electrocardiogram Q-T interval in the EEG laboratory American Journal of Eeg Technology. 32: 58-64. DOI: 10.1080/00029238.1992.11080392  0.296
2014 Jansen LA, Hevner RF, Roden WH, Hahn SH, Jung S, Gospe SM. Glial localization of antiquitin: implications for pyridoxine-dependent epilepsy. Annals of Neurology. 75: 22-32. PMID 24122892 DOI: 10.1002/ana.24027  0.29
1995 Pranzatelli MR, Huang Y, Tate E, Stanley M, Noetzel MJ, Gospe SM, Banasiak K. Cerebrospinal fluid 5-hydroxyindoleacetic acid and homovanillic acid in the pediatric opsoclonus-myoclonus syndrome. Annals of Neurology. 37: 189-97. PMID 7531417 DOI: 10.1002/Ana.410370209  0.29
2014 Lechpammer M, Clegg MS, Muzar Z, Huebner PA, Jin LW, Gospe SM. Pathology of inherited manganese transporter deficiency. Annals of Neurology. 75: 608-12. PMID 24599576 DOI: 10.1002/Ana.24131  0.289
2013 Karnebeek Cv, Hartmann H, Jaggumantri S, Bok L, Das A, Gospe S, Jakobs C, Meyer U, Hove JV, Struys E, Stöckler S, Plecko B. Lysine restricted diet for pyridoxine-dependent epilepsy: First reports and future trial Neuropediatrics. 44. DOI: 10.1055/S-0033-1337718  0.288
2018 Lo MD, Gospe SM. Telemedicine and Child Neurology. Journal of Child Neurology. 883073818807516. PMID 30394826 DOI: 10.1177/0883073818807516  0.282
2014 Beatty CW, Ko PR, Nixon J, Gospe SM. Delayed-onset movement disorder and encephalopathy after oxycodone ingestion. Seminars in Pediatric Neurology. 21: 160-5. PMID 25149954 DOI: 10.1016/j.spen.2014.06.009  0.281
1997 Bakshi N, Maselli RA, Gospe SM, Ellis WG, McDonald C, Mandler RN. Fulminant demyelinating neuropathy mimicking cerebral death. Muscle & Nerve. 20: 1595-7. PMID 9390675 DOI: 10.1002/(SICI)1097-4598(199712)20:12<1595::AID-MUS17>3.0.CO;2-#  0.28
2010 Soltanzadeh P, Friez MJ, Dunn D, von Niederhausern A, Gurvich OL, Swoboda KJ, Sampson JB, Pestronk A, Connolly AM, Florence JM, Finkel RS, Bönnemann CG, Medne L, Mendell JR, Mathews KD, ... ... Gospe SM, et al. Clinical and genetic characterization of manifesting carriers of DMD mutations. Neuromuscular Disorders : Nmd. 20: 499-504. PMID 20630757 DOI: 10.1016/j.nmd.2010.05.010  0.279
2007 Bouldin AA, Parisi MA, Laing N, Patterson K, Gospe SM. Variable presentation of nemaline myopathy: novel mutation of alpha actin gene. Muscle & Nerve. 35: 254-8. PMID 16967490 DOI: 10.1002/mus.20662  0.278
2014 Wallace SE, Conta JH, Winder TL, Willer T, Eskuri JM, Haas R, Patterson K, Campbell KP, Moore SA, Gospe SM. A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations. Neuromuscular Disorders : Nmd. 24: 312-20. PMID 24491487 DOI: 10.1016/J.Nmd.2014.01.001  0.275
2012 Tuschl K, Clayton PT, Gospe SM, Gulab S, Ibrahim S, Singhi P, Aulakh R, Ribeiro RT, Barsottini OG, Zaki MS, Del Rosario ML, Dyack S, Price V, Rideout A, Gordon K, et al. Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man. American Journal of Human Genetics. 90: 457-66. PMID 22341972 DOI: 10.1016/J.Ajhg.2012.01.018  0.275
2009 Bamford NS, White KK, Robinett SA, Otto RK, Gospe SM. Neuromuscular hip dysplasia in Charcot-Marie-Tooth disease type 1A. Developmental Medicine and Child Neurology. 51: 408-11. PMID 19388151 DOI: 10.1111/j.1469-8749.2008.03234.x  0.274
1987 Hrachovy RA, Frost JD, Gospe SM, Glaze DG. Infantile spasms following near-drowning: a report of two cases. Epilepsia. 28: 45-8. PMID 3792289 DOI: 10.1111/J.1528-1157.1987.Tb03621.X  0.274
1989 Gospe SM, Lazaro RP, Lava NS, Grootscholten PM, Scott MO, Fischbeck KH. Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene. Neurology. 39: 1277-80. PMID 2677830 DOI: 10.1212/WNL.39.10.1277  0.273
1986 Gospe SM, Jankovic J. Drug-induced dystonia in neuronal ceroid-lipofuscinosis. Pediatric Neurology. 2: 236-7. PMID 3508694 DOI: 10.1016/0887-8994(86)90054-8  0.267
1995 Gospe SM. Transient cortical blindness in an infant exposed to methamphetamine. Annals of Emergency Medicine. 26: 380-2. PMID 7661433 DOI: 10.1016/S0196-0644(95)70090-0  0.267
1993 Kurowski HL, Gospe SM, Zeman FJ, Grivetti LE. Nutritional factors and anticonvulsant therapies: effect on growth in children with epilepsy. The American Journal of Clinical Nutrition. 58: 858-61. PMID 8249867 DOI: 10.1093/Ajcn/58.6.858  0.266
1995 Tedeschi G, Schiffmann R, Barton NW, Shih HH, Gospe SM, Brady RO, Alger JR, Di Chiro G. Proton magnetic resonance spectroscopic imaging in childhood ataxia with diffuse central nervous system hypomyelination. Neurology. 45: 1526-32. PMID 7644053 DOI: 10.1212/Wnl.45.8.1526  0.261
2015 Arredondo J, Lara M, Gospe SM, Mazia CG, Vaccarezza M, Garcia-Erro M, Bowe CM, Chang CH, Mezei MM, Maselli RA. Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations. Human Mutation. PMID 26080897 DOI: 10.1002/humu.22823  0.261
1994 Gospe SM, Saeed DB, Zhou SS, Zeman FJ. The effects of high-dose toluene on embryonic development in the rat. Pediatric Research. 36: 811-5. PMID 7898990 DOI: 10.1203/00006450-199412000-00023  0.261
2005 Bennett CL, Huynh HM, Chance PF, Glass IA, Gospe SM. Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures. Neurogenetics. 6: 143-9. PMID 16075246 DOI: 10.1007/s10048-005-0221-8  0.261
2015 Poliachik SL, Friedman SD, Poliakov AV, Budech CB, Ishak GE, Shaw DW, Gospe SM. Corpus Callosum Diffusion and Connectivity Features in High Functioning Subjects With Pyridoxine-Dependent Epilepsy. Pediatric Neurology. PMID 26547255 DOI: 10.1016/J.Pediatrneurol.2015.09.012  0.259
1989 McGuire SA, Gospe SM, Dahl G. Acute vincristine neurotoxicity in the presence of hereditary motor and sensory neuropathy type I. Medical and Pediatric Oncology. 17: 520-3. PMID 2685529 DOI: 10.1002/Mpo.2950170534  0.258
2000 Gospe SM, Caruso RD, Clegg MS, Keen CL, Pimstone NR, Ducore JM, Gettner SS, Kreutzer RA. Paraparesis, hypermanganesaemia, and polycythaemia: a novel presentation of cirrhosis. Archives of Disease in Childhood. 83: 439-42. PMID 11040156 DOI: 10.1136/Adc.83.5.439  0.258
1993 Wennberg RP, Gospe SM, Rhine WD, Seyal M, Saeed D, Sosa G. Brainstem bilirubin toxicity in the newborn primate may be promoted and reversed by modulating PCO2. Pediatric Research. 34: 6-9. PMID 8356020 DOI: 10.1203/00006450-199307000-00002  0.257
1987 Gospe SM, Armstrong DL, Gresik MV, Hawkins HK. Life-threatening congestive heart failure as the presentation of centronuclear myopathy. Pediatric Neurology. 3: 117-20. PMID 3508053 DOI: 10.1016/0887-8994(87)90040-3  0.257
2010 Gospe SM. Neonatal vitamin-responsive epileptic encephalopathies. Chang Gung Medical Journal. 33: 1-12. PMID 20184790  0.256
1996 Gospe SM, Zhou SS, Saeed DB, Zeman FJ. Development of a rat model of toluene-abuse embryopathy. Pediatric Research. 40: 82-7. PMID 8798251 DOI: 10.1203/00006450-199607000-00015  0.256
2000 Gospe SM, Zhou SS. Prenatal exposure to toluene results in abnormal neurogenesis and migration in rat somatosensory cortex. Pediatric Research. 47: 362-8. PMID 10709736 DOI: 10.1203/00006450-200003000-00013  0.255
2014 Richardson RC, Tarleton JC, Bird TD, Gospe SM. Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance. Muscle & Nerve. 49: 593-600. PMID 23893571 DOI: 10.1002/Mus.23976  0.252
1990 Gospe SM, Mora BJ, Glick SD. Measurement of spontaneous rotational movement (circling) in normal children. Journal of Child Neurology. 5: 31-4. PMID 2299137 DOI: 10.1177/088307389000500106  0.25
2014 van Karnebeek CD, Stockler-Ipsiroglu S, Jaggumantri S, Assmann B, Baxter P, Buhas D, Bok LA, Cheng B, Coughlin CR, Das AM, Giezen A, Al-Hertani W, Ho G, Meyer U, Mills P, ... ... Gospe SM, et al. Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations. Jimd Reports. 15: 1-11. PMID 24748525 DOI: 10.1007/8904_2014_296  0.249
1988 Van Antwerpen CL, Gospe SM, Dentinger MP. Nemaline myopathy associated with hypertrophic cardiomyopathy. Pediatric Neurology. 4: 306-8. PMID 3242535 DOI: 10.1016/0887-8994(88)90071-9  0.249
2009 Gospe SM, Joyce JA, Siebert JR, Jack RM, Pinkerton KE. Exposure to environmental tobacco smoke during pregnancy in rats yields less effect on indices of brain cell number and size than does postnatal exposure. Reproductive Toxicology (Elmsford, N.Y.). 27: 22-7. PMID 19059474 DOI: 10.1016/j.reprotox.2008.11.049  0.243
2006 Barry PA, Lockridge KM, Salamat S, Tinling SP, Yue Y, Zhou SS, Gospe SM, Britt WJ, Tarantal AF. Nonhuman primate models of intrauterine cytomegalovirus infection. Ilar Journal / National Research Council, Institute of Laboratory Animal Resources. 47: 49-64. PMID 16391431 DOI: 10.1093/Ilar.47.1.49  0.242
1998 Gospe SM, Zhou SS. Toluene abuse embryopathy: longitudinal neurodevelopmental effects of prenatal exposure to toluene in rats. Reproductive Toxicology (Elmsford, N.Y.). 12: 119-26. PMID 9535505 DOI: 10.1016/S0890-6238(97)00128-7  0.238
2015 Mann PC, Gospe SM, Steinman KJ, Wilfond BS. Integrating neurocritical care approaches into neonatology: should all infants be treated equitably? Journal of Perinatology : Official Journal of the California Perinatal Association. PMID 26248128 DOI: 10.1038/Jp.2015.95  0.236
1988 Van Antwerpen CL, Gospe SM, Wade NA. Myeloradiculopathy associated with wasp sting. Pediatric Neurology. 4: 379-80. PMID 2854472 DOI: 10.1016/0887-8994(88)90088-4  0.234
2013 Jung S, Tran NT, Gospe SM, Hahn SH. Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS. Molecular Genetics and Metabolism. 110: 237-40. PMID 23953072 DOI: 10.1016/j.ymgme.2013.07.017  0.234
2014 Segal MM, Williams MS, Gropman AL, Torres AR, Forsyth R, Connolly AM, El-Hattab AW, Perlman SJ, Samanta D, Parikh S, Pavlakis SG, Feldman LK, Betensky RA, Gospe SM. Evidence-based decision support for neurological diagnosis reduces errors and unnecessary workup. Journal of Child Neurology. 29: 487-92. PMID 23576414 DOI: 10.1177/0883073813483365  0.231
2005 Gospe SM, Bell RM. Hospital pharmacy and emergency department availability of parenteral pyridoxine. Pediatric Emergency Care. 21: 586-8. PMID 16160662 DOI: 10.1097/01.pec.0000177194.37914.6c  0.231
1993 Saeed D, Goetzman BW, Gospe SM. Brain injury and protective effects of hypothermia using triphenyltetrazolium chloride in neonatal rat. Pediatric Neurology. 9: 263-7. PMID 7692864 DOI: 10.1016/0887-8994(93)90061-G  0.231
2021 Engelke UF, van Outersterp RE, Merx J, van Geenen FA, van Rooij A, Berden G, Huigen MC, Kluijtmans LA, Peters TM, Al-Shekaili HH, Leavitt BR, de Vrieze E, Broekman S, van Wijk E, Tseng LA, ... ... Gospe SM, et al. Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy. The Journal of Clinical Investigation. PMID 34138754 DOI: 10.1172/JCI148272  0.23
1993 Hansen RL, Struthers JM, Gospe SM. Visual evoked potentials and visual processing in stimulant drug-exposed infants. Developmental Medicine and Child Neurology. 35: 798-805. PMID 8354431 DOI: 10.1111/J.1469-8749.1993.Tb11731.X  0.229
1983 Gospe SM. Studies of dopamine pharmacology in molluscs. Life Sciences. 33: 1945-57. PMID 6139725 DOI: 10.1016/0024-3205(83)90732-4  0.227
1999 Gospe SM, Zhou SS. Prenatal Exposure to Toluene Results in Abnormal Neuronal Proliferation and Migration Pediatric Research. 45. DOI: 10.1203/00006450-199904020-02031  0.226
1988 Gospe SM, Calaban MJ. Central nervous system distribution of inhaled toluene. Fundamental and Applied Toxicology : Official Journal of the Society of Toxicology. 11: 540-5. PMID 3220222 DOI: 10.1093/toxsci/11.1.540  0.225
1996 Lowe DW, Gospe SM, Hecht ST. Spinal arteriovenous malformation presenting as meningitis. Developmental Medicine and Child Neurology. 38: 549-53. PMID 8647335 DOI: 10.1111/J.1469-8749.1996.Tb12116.X  0.221
1995 Gospe SM, Gietzen DW, Summers PJ, Lunetta JM, Miller JW, Selhub J, Ellis WG, Clifford AJ. Behavioral and neurochemical changes in folate-deficient mice. Physiology & Behavior. 58: 935-41. PMID 8577891 DOI: 10.1016/0031-9384(95)00156-D  0.221
1994 Gospe SM, Al-Bayati MAS. Comparison of oral and inhalation exposures to toluene Journal of the American College of Toxicology. 13: 21-32. DOI: 10.3109/10915819409140651  0.219
2016 Weisleder P, Gospe SM, Ng YT, Sahin M. The Pediatric Neurology Trainee Publication Award for 2015. Pediatric Neurology. 63: 1-2. PMID 28847386 DOI: 10.1016/J.Pediatrneurol.2016.07.004  0.217
2005 Gospe SM, Camfield P. Cardiac causes of sudden death: Virtual panel discussion of posed questions Seminars in Pediatric Neurology. 12: 67-69. PMID 15929467 DOI: 10.1016/j.spen.2005.02.004  0.216
1994 Jones AD, Dunlap MR, Gospe SM. Stable-isotope dilution GC-MS for determination of toluene in submilliliter volumes of whole blood. Journal of Analytical Toxicology. 18: 251-4. PMID 7990441 DOI: 10.1093/Jat/18.5.251  0.215
2015 Ng YT, Gospe SM, Sahin M. Pediatric Neurology 2014 Trainee Publication Award Winner: Dr. Mitchel T. Williams. Pediatric Neurology. PMID 26047694 DOI: 10.1016/J.Pediatrneurol.2015.04.010  0.209
1998 Zhou SS, Gospe SM. Double Labeling of Proliferating Neurons with Anti-BrdU and Anti-NeuN: An Improved Immunohistochemical Technique Utilizing Microwave Irradiation Journal of Histotechnology. 21: 201-204. DOI: 10.1179/His.1998.21.3.201  0.206
2015 Burns TM, Smith GA, Allen JA, Amato AA, Arnold WD, Barohn R, Benatar M, Bird SJ, Bromberg M, Chahin N, Ciafaloni E, Cohen JA, Corse A, Crum BA, David WS, ... ... Gospe SM, et al. Editorial by concerned physicians: Unintended effect of the Orphan Drug Act on the potential cost of 3,4-diaminopyridine. Muscle & Nerve. PMID 26662952 DOI: 10.1002/Mus.25009  0.194
2022 Tseng LA, Abdenur JE, Andrews A, Aziz VG, Bok LA, Boyer M, Buhas D, Hartmann H, Footitt EJ, Grønborg S, Janssen MCH, Longo N, Lunsing RJ, MacKenzie AE, Wijburg FA, ... Gospe SM, et al. Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy. Molecular Genetics and Metabolism. 135: 350-356. PMID 35279367 DOI: 10.1016/j.ymgme.2022.02.005  0.189
2009 Bennett CL, Chen Y, Hahn S, Glass IA, Gospe SM. Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients. Epilepsia. 50: 1167-75. PMID 19128417 DOI: 10.1111/j.1528-1167.2008.01816.x  0.187
2019 Bearer C, Agostoni C, Anand KJS, Ambalavanan N, Bhandari V, Bliss JM, Bloomfield F, Bonifacio SL, Buhimschi I, Cilio MR, Coppes M, Czinn SJ, El-Khuffash A, Embleton N, Felderhoff-Müser U, ... ... Gospe SM, et al. Toward the elimination of bias in Pediatric Research. Pediatric Research. PMID 31533126 DOI: 10.1038/S41390-019-0583-5  0.184
2022 Coughlin CR, Tseng LA, Bok LA, Hartmann H, Footitt E, Striano P, Tabarki BM, Lunsing RJ, Stockler-Ipsiroglu S, Gordon S, Van Hove JLK, Abdenur JE, Boyer M, Longo N, Andrews A, ... ... Gospe SM, et al. Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy. Neurology. PMID 36008148 DOI: 10.1212/WNL.0000000000201222  0.176
2024 Foley AR, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, McCarty RM, Sarathy A, Norato G, Cummings BB, Lek M, Sarkozy A, Butterfield RJ, Kirschner J, Nascimento A, ... ... Gospe SM, et al. The recurrent deep intronic pseudoexon-inducing variant c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. Medrxiv : the Preprint Server For Health Sciences. PMID 38585825 DOI: 10.1101/2024.03.29.24304673  0.172
2022 Gupta PR, Gospe SM. Ophthalmic manifestations of MEPAN syndrome. Ophthalmic Genetics. 1-6. PMID 36262091 DOI: 10.1080/13816810.2022.2135112  0.16
2022 Tseng LA, Engelke UFH, Huigen MCDG, Kluijtmans LAJ, Haaxma CA, Koolen DA, Bok LA, Wright JN, Gospe SM, Janssen MCH, van Karnebeek CDM, Coene KLM. Targeting the Diagnosis in an Adolescent with Epilepsy and Intellectual Disability through Next-Generation Metabolic Screening. Clinical Chemistry. 68: 732-735. PMID 36189752 DOI: 10.1093/clinchem/hvab276  0.133
2020 Gospe SM, Chen JJ, Bhatti MT. Neuromyelitis optica spectrum disorder and myelin oligodendrocyte glycoprotein associated disorder-optic neuritis: a comprehensive review of diagnosis and treatment. Eye (London, England). PMID 33323985 DOI: 10.1038/s41433-020-01334-8  0.132
2016 Gospe SM, Todorich B, Foster YG, Legault G, Woods SK, Proia AD, Daluvoy M. Keratomalacia in a Patient With Psychogenic Vitamin A Deficiency. Cornea. PMID 26785304 DOI: 10.1097/ICO.0000000000000732  0.117
2018 Lira J, Gospe SM, Bhatti MT, Wynn DP, Warner JEA. Fourth Down and Five. Survey of Ophthalmology. PMID 29959965 DOI: 10.1016/j.survophthal.2018.06.005  0.114
2016 Tuschl K, Clayton PT, Gospe SM, Gulab S, Ibrahim S, Singhi P, Aulakh R, Ribeiro RT, Barsottini OG, Zaki MS, Del Rosario ML, Dyack S, Price V, Rideout A, Gordon K, et al. Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man. American Journal of Human Genetics. 99: 521. PMID 27486784 DOI: 10.1016/j.ajhg.2016.07.015  0.106
2019 Gospe SM, Travis AM, Kolesnikov AV, Klingeborn M, Wang L, Kefalov VJ, Arshavsky VY. Photoreceptors in a Mouse Model of Leigh Syndrome are Capable of Normal Light-Evoked Signaling. The Journal of Biological Chemistry. PMID 31248988 DOI: 10.1074/Jbc.Ra119.007945  0.101
1996 Gospe SM, Zhou SS, Pinkerton KE. Effects of environmental tobacco smoke exposure in utero and/or postnatally on brain development. Pediatric Research. 39: 494-8. PMID 8929871 DOI: 10.1203/00006450-199603000-00018  0.101
1995 Engel DG, Gospe SM, Tracy KA, Ellis WG, Lie JT. Fatal infantile polyarteritis nodosa with predominant central nervous system involvement. Stroke; a Journal of Cerebral Circulation. 26: 699-701. PMID 7709420  0.097
2015 Gospe SM, Bhatti MT, Chavis PS. Tug of war. Survey of Ophthalmology. 60: 366-72. PMID 25891028 DOI: 10.1016/j.survophthal.2014.08.006  0.095
2021 Warwick AM, Gospe SM, Chen JJ. At this Junction…. Survey of Ophthalmology. PMID 34364902 DOI: 10.1016/j.survophthal.2021.08.001  0.094
1980 Gospe SM, Wilson WA. Dopamine inhibits burst-firing of neurosecretory cell R 15 in Aplysia californica: establishment of a dose-response relationship. The Journal of Pharmacology and Experimental Therapeutics. 214: 112-8. PMID 7391963  0.092
2019 Gospe SM, Santiago-Turla C, DeArmey SM, Cummings TJ, Kishnani PS, Bhatti MT. Ectopic Ocular Surface Calcification in Patients With Hypophosphatasia Treated With Asfotase Alfa. Cornea. PMID 30969260 DOI: 10.1097/Ico.0000000000001947  0.092
1981 Gospe SM, Wilson WA. Pharmacological studies of a novel dopamine-sensitive receptor mediating burst-firing inhibition of neurosecretory cell R 15 in Aplysia californica. The Journal of Pharmacology and Experimental Therapeutics. 216: 368-77. PMID 6109774  0.09
2020 Finkelstein S, Gospe SM, Schuhmann K, Shevchenko A, Arshavsky VY, Lobanova ES. Phosphoinositide Profile of the Mouse Retina. Cells. 9. PMID 32517352 DOI: 10.3390/Cells9061417  0.081
1996 Bakerink JA, Gospe SM, Dimand RJ, Eldridge MW. Multiple organ failure after ingestion of pennyroyal oil from herbal tea in two infants. Pediatrics. 98: 944-7. PMID 8909490  0.08
2021 O'Sullivan ML, Gospe SM. Traumatic chiasmopathy following mild trauma in a patient with thyroid orbitopathy. American Journal of Ophthalmology Case Reports. 21: 101021. PMID 33553807 DOI: 10.1016/j.ajoc.2021.101021  0.077
2019 Gospe SM, Amrhein TJ, Malinzak MD, Bhatti MT, Mettu P, El-Dairi MA. Magnetic Resonance Imaging Abnormalities of the Optic Nerve Sheath and Intracranial Internal Carotid Artery in Giant Cell Arteritis. Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society. PMID 31609845 DOI: 10.1097/Wno.0000000000000860  0.076
2020 Wang L, Klingeborn M, Travis AM, Hao Y, Arshavsky VY, Gospe SM. Progressive optic atrophy in a retinal ganglion cell-specific mouse model of complex I deficiency. Scientific Reports. 10: 16326. PMID 33004958 DOI: 10.1038/s41598-020-73353-0  0.073
2020 Michalak SM, Mukherjee N, Gospe SM. BILATERAL PARACENTRAL ACUTE MIDDLE MACULOPATHY AFTER CARDIOPULMONARY BYPASS. Retinal Cases & Brief Reports. PMID 32032289 DOI: 10.1097/ICB.0000000000000982  0.073
2022 Deputy SR, Khakoo Y, Gospe SM. Adverse Effects of War and Armed Conflict on Children. Pediatric Neurology. 130: 69-70. PMID 35428554 DOI: 10.1016/j.pediatrneurol.2022.03.006  0.073
2016 Weisleder P, Gospe SM, Ng YT, Sahin M. The Pediatric Neurology Trainee Publication Award for 2015. Pediatric Neurology. PMID 27543367 DOI: 10.1016/j.pediatrneurol.2016.07.004  0.07
2023 Sattarova V, Flowers A, Gospe SM, Chen JJ, Stunkel L, Bhatti MT, Dattilo M, Kedar S, Biousse V, McClelland CM, Lee MS. A multi-centre case series of patients with coexistent intracranial hypertension and malignant arterial hypertension. Eye (London, England). PMID 37491440 DOI: 10.1038/s41433-023-02672-z  0.069
2015 Gospe SM, Bhatti MT, El-Dairi MA. Anatomic and visual function outcomes in paediatric idiopathic intracranial hypertension. The British Journal of Ophthalmology. PMID 26269534 DOI: 10.1136/bjophthalmol-2015-307043  0.064
2021 Birnbaum FA, Gospe SM. Severe Leber Hereditary Optic Neuropathy Plus Disease in a Middle-Aged Man. Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society. PMID 33417421 DOI: 10.1097/WNO.0000000000001151  0.063
2013 Salinas RY, Baker SA, Gospe SM, Arshavsky VY. A single valine residue plays an essential role in peripherin/rds targeting to photoreceptor outer segments. Plos One. 8: e54292. PMID 23342122 DOI: 10.1371/Journal.Pone.0054292  0.06
2021 Ahuja AS, El-Dairi MA, Hadziahmetovic M, Gospe SM. Paracentral Acute Middle Maculopathy as a Manifestation of Giant Cell Arteritis. Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society. PMID 33449486 DOI: 10.1097/WNO.0000000000001170  0.059
1980 Gospe SM, Wilson WA. Inhibition of burst-firing in cell R 15 of Aplysia californica: Effects of catecholamine releasing agents Neuroscience Letters. 19: S364.  0.055
2017 Gospe SM, Bhatti MT, El-Dairi MA. Emerging Applications of Optical Coherence Tomography in Pediatric Optic Neuropathies. Seminars in Pediatric Neurology. 24: 135-142. PMID 28941529 DOI: 10.1016/j.spen.2017.04.008  0.054
2010 Gospe SM, Baker SA, Arshavsky VY. Facilitative glucose transporter Glut1 is actively excluded from rod outer segments. Journal of Cell Science. 123: 3639-44. PMID 20923839 DOI: 10.1242/Jcs.072389  0.05
2014 Van Karnebeek C, Gospe SM. Disorders of Pyridoxine Metabolism Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition. 541-555. DOI: 10.1016/B978-0-12-410529-4.00049-8  0.05
1979 Gospe SM, Bias RR, Winkler SR. The Edgemont Community Clinic: Durham's student-operated free clinic begins its second decade. North Carolina Medical Journal. 40: 357-61. PMID 381949  0.046
2011 Gospe SM, Baker SA, Kessler C, Brucato MF, Winter JR, Burns ME, Arshavsky VY. Membrane attachment is key to protecting transducin GTPase-activating complex from intracellular proteolysis in photoreceptors. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 31: 14660-8. PMID 21994382 DOI: 10.1523/Jneurosci.3516-11.2011  0.044
2018 Weng CY, Khimani KS, Foroozan R, Gospe SM, Bhatti MT. A Sticky Situation. Survey of Ophthalmology. PMID 29705174 DOI: 10.1016/j.survophthal.2018.04.004  0.044
2020 Dixon SM, Binkley MM, Gospe SM, Guerriero RM. Child Neurology Applicants Place Increasing Emphasis on Quality of Life Factors. Pediatric Neurology. 114: 42-46. PMID 33212334 DOI: 10.1016/j.pediatrneurol.2020.09.012  0.044
2017 Gospe SM, Walter SD, Bhatti MT. A Woman With a Spot in Her Vision. Jama Ophthalmology. PMID 28617913 DOI: 10.1001/jamaophthalmol.2017.0426  0.043
2021 Ahuja AS, El-Dairi MA, Hadziahmetovic M, Gospe SM. Pellegrini et al-"Reply to: Paracentral Acute Middle Maculopathy as a Manifestation of Giant Cell Arteritis": Response. Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society. PMID 34803138 DOI: 10.1097/WNO.0000000000001335  0.037
1953 BISKIND GR, BERNSTEIN DE, GOSPE SM. The effect of exogenous gonadotrophins on the development of experimental ovarian tumors in rats. Cancer Research. 13: 216-20. PMID 13042809  0.037
2020 McNabb RP, Liu AS, Gospe SM, El-Dairi M, Meekins LC, James C, Vann RR, Izatt JA, Kuo AN. Quantitative topographic curvature maps of the posterior eye utilizing optical coherence tomography. Retina (Philadelphia, Pa.). PMID 32568982 DOI: 10.1097/Iae.0000000000002897  0.033
2023 Peters KS, Schuman SG, Sengupta S, Maheswaranathan M, Gospe SM. Papilledema and Combined Central Retinal Artery and Central Retinal Vein Occlusion as a Manifestation of Behçet Disease. Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society. PMID 37418630 DOI: 10.1097/WNO.0000000000001941  0.033
1934 Gospe SM. Treatment of Trichomonas Vaginitis. California and Western Medicine. 41: 172-3. PMID 18743016  0.033
2018 Umunakwe OC, Zhang W, Chen X, Grewal DS, Gospe SM. Neurofibromatosis Type 1 Vasculopathy Presenting as Impending Central Retinal Artery Occlusion. Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society. PMID 30540635 DOI: 10.1097/WNO.0000000000000739  0.032
2022 Warwick AM, Bomze HM, Wang L, Klingeborn M, Hao Y, Stinnett SS, Gospe SM. Continuous Hypoxia Reduces Retinal Ganglion Cell Degeneration in a Mouse Model of Mitochondrial Optic Neuropathy. Investigative Ophthalmology & Visual Science. 63: 21. PMID 36538003 DOI: 10.1167/iovs.63.13.21  0.031
1990 Gospe SM. A pediatrician's personal reflections on varicella. Pediatrics. 86: 494. PMID 2388806  0.027
2008 Baker SA, Haeri M, Yoo P, Gospe SM, Skiba NP, Knox BE, Arshavsky VY. The outer segment serves as a default destination for the trafficking of membrane proteins in photoreceptors. The Journal of Cell Biology. 183: 485-98. PMID 18981232 DOI: 10.1085/Jgp1326Oia4  0.026
2020 Weisleder P, Gospe SM. Withholding Childhood Immunizations: A Parent's Right or a Child's Neglect? Pediatric Neurology. 113: 80-81. PMID 33190688 DOI: 10.1016/j.pediatrneurol.2020.09.010  0.022
2018 Thompson AC, Bhatti MT, Gospe SM. Spectral Domain-Optical Coherence Tomography of the Vitreopapillary Interface in Acute Non-Arteritic Anterior Ischemic Optic Neuropathy. American Journal of Ophthalmology. PMID 30098345 DOI: 10.1016/j.ajo.2018.08.002  0.021
2009 Gospe SM. Other organic chemicals Clinical Neurotoxicology: Syndromes, Substances, Environments. 415-420. DOI: 10.1016/B978-032305260-3.50042-3  0.02
1977 Snapp BD, Heller HC, Gospe SM. Hypothalamic thermosensitivity in California quail (Lophortyx californicus) Journal of Comparative Physiology ■ B. 117: 345-357. DOI: 10.1007/BF00691560  0.017
1960 GOSPE SM, ZIPSER A, WEIL BJ, FINKLE AL. Fibrinolysin dissolution of renal pelvic clot post partum. The New England Journal of Medicine. 263: 957-9. PMID 13707360 DOI: 10.1056/NEJM196011102631908  0.014
2018 Gospe SM, Bhatti MT. Orbital Anatomy. International Ophthalmology Clinics. 58: 5-23. PMID 29517643 DOI: 10.1097/IIO.0000000000000214  0.01
2014 Roach ES, Gospe S, Ng YT, Sahin M. Trust but verify: the introduction of plagiarism detection software. Pediatric Neurology. 50: 287. PMID 24630278 DOI: 10.1016/J.Pediatrneurol.2013.12.021  0.01
2009 Firestone JA, Gospe SM. Organic solvents Clinical Neurotoxicology: Syndromes, Substances, Environments. 401-414. DOI: 10.1016/B978-032305260-3.50041-1  0.01
1999 Gospe SM. Reply The Journal of Pediatrics. 134: 795-6. PMID 10356241  0.01
1990 Gospe SM. Toluene dementia. Neurology. 40: 1320-1. PMID 2381549 DOI: 10.1212/WNL.40.8.1320-b  0.01
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