| 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 |
0.5 |
|
| 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 |
0.302 |
|
| 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 |
0.336 |
|
| 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 |
0.542 |
|
| 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 |
0.334 |
|
| 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 |
0.568 |
|
| 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 |
|
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