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Sidney Gospe

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Raquel Y Salinas; Sheila A Baker; Sidney M Gospe; Vadim Y Arshavsky
A single valine residue plays an essential role in peripherin/rds targeting to photoreceptor outer segments.
Heather C Mefford; Joseph Cook; Sidney M Gospe
Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy.
Clara D M van Karnebeek; Eduard A Struys; Johanna H van der Lee; Johan L K Van Hove; Levinus A Bok; Barb Cheng; Jean-Paul Collet; Mary Connolly; Curtis R Coughlin; Anibh M Das; Sidney M Gospe; Hans Hartmann; Sravan Jaggumantri; Cornelis Jakobs; Saadet Mercimek-Mahmutoglu; Uta Meyer; Barbara R Plecko; Graham Sinclair; Sylvia Stockler
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.

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All Publications

2013: Raquel Y Salinas; Sheila A Baker; Sidney M Gospe; Vadim Y Arshavsky
A single valine residue plays an essential role in peripherin/rds targeting to photoreceptor outer segments.
PloS one 2013;8(1):e54292.
2012: Heather C Mefford; Joseph Cook; Sidney M Gospe
Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy.
American journal of medical genetics. Part A 2012;158A(12):3190-5.
2012: Clara D M van Karnebeek; Eduard A Struys; Johanna H van der Lee; Johan L K Van Hove; Levinus A Bok; Barb Cheng; Jean-Paul Collet; Mary Connolly; Curtis R Coughlin; Anibh M Das; Sidney M Gospe; Hans Hartmann; Sravan Jaggumantri; Cornelis Jakobs; Saadet Mercimek-Mahmutoglu; Uta Meyer; Barbara R Plecko; Graham Sinclair; Sylvia Stockler
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.
Molecular genetics and metabolism 2012;107(3):335-44.
2012: Sidney M Gospe
Natural history of pyridoxine-dependent epilepsy: tools for prognostication.
Developmental medicine and child neurology 2012;54(9):781-2.
2012: Karin Tuschl; Ron A Wevers; Maha S Zaki; Victoria Price; Reinaldo T Ribeiro; Andrea Rideout; Pratibha Singhi; ROOSY AULAKH; Orlando G Barsottini; W K Kling Chong; Peter T Clayton; Maria Luz Del Rosario; Sarah Dyack; Kevin Gordon; Sidney M Gospe; Shamshad Gulab; Shahnaz Ibrahim; Philippa B Mills
Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.
American journal of human genetics 2012;90(3):457-66.
2011: Sidney M Gospe; Christopher Kessler; Joan R Winter; Sheila A Baker; Martha F Brucato; Marie E Burns; Vadim Y Arshavsky
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 2011;31(41):14660-8.
2011: Sylvia Stockler; Eduard Struijs; Ingrid Tein; Clara van Karnebeek; Peter Clayton; Mary Connolly; Marion B Coulter-Mackie; Sidney M Gospe; Hans Hartmann; Cornelis Jakobs; Saadet Mercimek-Mahmutoglu; Barbara Plecko; Gunter Scharer; Johan L K Van Hove
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
Molecular genetics and metabolism 2011;104(1-2):48-60.
2011: Eric B Segal; Zachary M Grinspan; Arthur M Mandel; Sidney M Gospe
Biomarkers aiding diagnosis of atypical presentation of pyridoxine-dependent epilepsy.
Pediatric neurology 2011;44(4):289-91.
2010: Emily T Martin; Tara Kerin; Dimitri A Christakis; Heidi K Blume; Sidney M Gospe; Jan Vinjé; Michael D Bowen; Jon Gentsch; Danielle M Zerr
Redefining outcome of first seizures by acute illness.
Pediatrics 2010;126(6):e1477-84.
2010: Sidney M Gospe; Sheila A Baker; Vadim Y Arshavsky
Facilitative glucose transporter Glut1 is actively excluded from rod outer segments.
Journal of cell science 2010;123(Pt 21):3639-44.
2010: Payam Soltanzadeh; Michael J Friez; Diane Dunn; Andrew von Niederhausern; Olga L Gurvich; Kathryn J Swoboda; Jacinda B Sampson; Alan Pestronk; Anne M Connolly; Julaine M Florence; Richard S Finkel; Carsten G Bönnemann; Livija Medne; Jerry R Mendell; Katherine D Mathews; Brenda L Wong; Michael D Sussman; Jonathan (Jon) Zonana; Karen Kovak; Sidney M Gospe; Eduard Gappmaier; Laura E Taylor; Michael T Howard; Robert B Weiss; Kevin M Flanigan
Clinical and genetic characterization of manifesting carriers of DMD mutations.
Neuromuscular disorders : NMD 2010;20(8):499-504.
2010: Sidney M Gospe
Pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency: unique clinical symptoms and non-specific EEG characteristics.
Developmental medicine and child neurology 2010;52(7):602-3.
2010: Sidney M Gospe
Neonatal vitamin-responsive epileptic encephalopathies.
Chang Gung medical journal 2010;33(1):1-12.
2009: Katerina Sadilkova; Sidney M Gospe; Si Houn Hahn
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 2009;184(1):136-41.
2009: Gregory J Basura; Shawn P Hagland; Anna M Wiltse; Sidney M Gospe
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 2009;168(6):697-704.
2009: Nigel S Bamford; Klane K White; Stephanie A Robinett; Randolph K Otto; Sidney M Gospe
Neuromuscular hip dysplasia in Charcot-Marie-Tooth disease type 1A.
Developmental medicine and child neurology 2009;51(5):408-11.
2009: Craig L Bennett; Yingzhang Chen; Sihoun Hahn; Ian A Glass; Sidney M Gospe
Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
Epilepsia 2009;50(5):1167-75.
2009: Sidney M Gospe; John A Joyce; Joseph R Siebert; Rhona M Jack; Kent E Pinkerton
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.) 2009;27(1):22-7.
2008: Sheila A Baker; Mohammad Haeri; Peter Yoo; Sidney M Gospe; Nikolai P Skiba; Barry E Knox; Vadim Y Arshavsky
The outer segment serves as a default destination for the trafficking of membrane proteins in photoreceptors.
The Journal of cell biology 2008;183(3):485-98.
2007: Anthony A Bouldin; Melissa A Parisi; Nigel Laing; Kathleen Patterson; Sidney M Gospe
Variable presentation of nemaline myopathy: novel mutation of alpha actin gene.
Muscle & nerve 2007;35(2):254-8.
2006: Sidney M Gospe
Pyridoxine-dependent seizures: new genetic and biochemical clues to help with diagnosis and treatment.
Current opinion in neurology 2006;19(2):148-53.
2006: Peter A Barry; Kristen M Lockridge; Shariar Salamat; Steven Tinling; Yujuan Yue; Shan Shan Zhou; Sidney M Gospe; William J Britt; Alice Tarantal
Nonhuman primate models of intrauterine cytomegalovirus infection.
ILAR journal / National Research Council, Institute of Laboratory Animal Resources 2006;47(1):49-64.
2005: Sidney M Gospe; Robert M S Bell
Hospital pharmacy and emergency department availability of parenteral pyridoxine.
Pediatric emergency care 2005;21(9):586-8.
2005: Craig L Bennett; Huy M Huynh; Phillip F Chance; Ian A Glass; Sidney M Gospe
Genetic heterogeneity for autosomal recessive pyridoxine-dependent seizures.
Neurogenetics 2005;6(3):143-9.
2005: Danielle M Zerr; Heidi K Blume; Anne T Berg; Mark A Del Beccaro; Sidney M Gospe; Amanda L Allpress; Dimitri A Christakis
Nonfebrile illness seizures: a unique seizure category?
Epilepsia 2005;46(6):952-5.
2005: Walter C Allan; Sidney M Gospe
Seizures, syncope, or breath-holding presenting to the pediatric neurologist--when is the etiology a life-threatening arrhythmia?
Seminars in pediatric neurology 2005;12(1):2-9.
2003: Kathleen Baynes; Sarah Tomaszewski Farias; Sidney M Gospe
Pyridoxine-dependent seizures and cognition in adulthood.
Developmental medicine and child neurology 2003;45(11):782-5.
2002: Sidney M Gospe
Pyridoxine-dependent seizures: findings from recent studies pose new questions.
Pediatric neurology 2002;26(3):181-5.
2000: Sidney M Gospe; R D Caruso; Michael S Clegg; Carl L Keen; N R Pimstone; Jonathan M Ducore; Sharmeen Gettner; R A Kreutzer
Paraparesis, hypermanganesaemia, and polycythaemia: a novel presentation of cirrhosis.
Archives of disease in childhood 2000;83(5):439-42.
2000: Sidney M Gospe; Shan Shan Zhou
Prenatal exposure to toluene results in abnormal neurogenesis and migration in rat somatosensory cortex.
Pediatric research 2000;47(3):362-8.
1998: Sidney M Gospe; M el-Schahawi; Sara Shanske; Claudio Bruno; Salvatore DiMauro; Elaine Hoye; Donal A Walsh; Fredric A Gorin
Asymptomatic McArdle's disease associated with hyper-creatine kinase-emia and absence of myophosphorylase.
Neurology 1998;51(4):1228-9.
1998: Sidney M Gospe; ST Hecht
Longitudinal MRI findings in pyridoxine-dependent seizures.
Neurology 1998;51(1):74-8.
1998: Sidney M Gospe
Current perspectives on pyridoxine-dependent seizures.
The Journal of pediatrics 1998;132(6):919-23.
1998: Sidney M Gospe; Shan Shan Zhou
Toluene abuse embryopathy: longitudinal neurodevelopmental effects of prenatal exposure to toluene in rats.
Reproductive toxicology (Elmsford, N.Y.) 1998;12(2):119-26.
1997: N Bakshi; Ricardo A Maselli; Sidney M Gospe; William G Ellis; Craig M McDonald; RN Mandler
Fulminant demyelinating neuropathy mimicking cerebral death.
Muscle & nerve 1997;20(12):1595-7.
1996: J A Bakerink; Sidney M Gospe; R J Dimand; M W Eldridge
Multiple organ failure after ingestion of pennyroyal oil from herbal tea in two infants.
Pediatrics 1996;98(5):944-7.
1996: Sidney M Gospe; Shan Shan Zhou; D B Saeed; F J Zeman
Development of a rat model of toluene-abuse embryopathy.
Pediatric research 1996;40(1):82-7.
1996: D W Lowe; Sidney M Gospe; S T Hecht
Spinal arteriovenous malformation presenting as meningitis.
Developmental medicine and child neurology 1996;38(6):549-53.
1996: Sidney M Gospe; Shan Shan Zhou; Kent E Pinkerton
Effects of environmental tobacco smoke exposure in utero and/or postnatally on brain development.
Pediatric research 1996;39(3):494-8.
1995: Sidney M Gospe; Dorothy W Gietzen; P J Summers; Jennine M Lunetta; Joshua Miller; J Selhub; William G Ellis; Andrew J Clifford
Behavioral and neurochemical changes in folate-deficient mice.
Physiology & behavior 1995;58(5):935-41.
1995: Sidney M Gospe
Transient cortical blindness in an infant exposed to methamphetamine.
Annals of emergency medicine 1995;26(3):380-2.
1995: D G Engel; Sidney M Gospe; K A Tracy; William G Ellis; J T Lie
Fatal infantile polyarteritis nodosa with predominant central nervous system involvement.
Stroke; a journal of cerebral circulation 1995;26(4):699-701.
1994: Sidney M Gospe; D B Saeed; Shan Shan Zhou; F J Zeman
The effects of high-dose toluene on embryonic development in the rat.
Pediatric research 1994;36(6):811-5.
1994: A Daniel Jones; M R Dunlap; Sidney M Gospe
Stable-isotope dilution GC-MS for determination of toluene in submilliliter volumes of whole blood.
Journal of analytical toxicology 1994;18(5):251-4.
1994: Sidney M Gospe; K L Olin; Carl L Keen
Reduced GABA synthesis in pyridoxine-dependent seizures.
Lancet 1994;343(8906):1133-4.
1993: H L Kurowski; Sidney M Gospe; F J Zeman; Louis E Grivetti
Nutritional factors and anticonvulsant therapies: effect on growth in children with epilepsy.
The American journal of clinical nutrition 1993;58(6):858-61.
1993: Robin Hansen; J M Struthers; Sidney M Gospe
Visual evoked potentials and visual processing in stimulant drug-exposed infants.
Developmental medicine and child neurology 1993;35(9):798-805.
1993: R P Wennberg; Sidney M Gospe; W D Rhine; masud seyal; D Saeed; G Sosa
Brainstem bilirubin toxicity in the newborn primate may be promoted and reversed by modulating PCO2.
Pediatric research 1993;34(1):6-9.
1993: D Saeed; B W Goetzman; Sidney M Gospe
Brain injury and protective effects of hypothermia using triphenyltetrazolium chloride in neonatal rat.
Pediatric neurology 1993;9(4):263-7.
1990: Sidney M Gospe; A J Gabor
Electroencephalography laboratory diagnosis of prolonged QT interval.
Annals of neurology 1990;28(3):387-90.
1989: Sidney M Gospe; R P Lazaro; N S Lava; P M Grootscholten; M O Scott; Kenneth H Fischbeck
Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene.
Neurology 1989;39(10):1277-80.
1989: Sidney M Gospe; M Choy
Hereditary long Q-T syndrome presenting as epilepsy: electroencephalography laboratory diagnosis.
Annals of neurology 1989;25(5):514-6.
1989: S A McGuire; Sidney M Gospe; G Dahl
Acute vincristine neurotoxicity in the presence of hereditary motor and sensory neuropathy type I.
Medical and pediatric oncology 1989;17(6):520-3.