| Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man K Tuschl, PT Clayton, SM Gospe, S Gulab, S Ibrahim, P Singhi, R Aulakh, ... The American Journal of Human Genetics 90 (3), 457-466, 2012 | 390 | 2012 |
| Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up S Stockler, B Plecko, SM Gospe Jr, M Coulter-Mackie, M Connolly, ... Molecular genetics and metabolism 104 (1-2), 48-60, 2011 | 347 | 2011 |
| Familial X-linked myalgia and cramps: A non-progressive myopathy associated with a deletion in the dystrophin gene SM Gospe, RP Lazaro, NS Lava, PM Grootscholten, MO Scott, ... Neurology 39, 1277-1280, 1989 | 195 | 1989 |
| Clinical and genetic characterization of manifesting carriers of DMD mutations P Soltanzadeh, MJ Friez, D Dunn, A von Niederhausern, OL Gurvich, ... Neuromuscular Disorders 20 (8), 499-504, 2010 | 186 | 2010 |
| Multiple organ failure after ingestion of pennyroyal oil from herbal tea in two infants JA Bakerink, SM Gospe Jr, RJ Dimand, MW Eldridge Pediatrics 98 (5), 944-947, 1996 | 162 | 1996 |
| Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry GJ Basura, SP Hagland, AM Wiltse, SM Gospe European journal of pediatrics 168, 697-704, 2009 | 138 | 2009 |
| Nonhuman primate models of intrauterine cytomegalovirus infection PA Barry, KM Lockridge, S Salamat, SP Tinling, Y Yue, SS Zhou, ... ILAR journal 47 (1), 49-64, 2006 | 131 | 2006 |
| Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials CDM van Karnebeek, H Hartmann, S Jaggumantri, LA Bok, B Cheng, ... Molecular genetics and metabolism 107 (3), 335-344, 2012 | 116 | 2012 |
| Pyridoxine-dependent seizures: new genetic and biochemical clues to help with diagnosis and treatment SM Gospe Jr Current opinion in neurology 19 (2), 148-153, 2006 | 107 | 2006 |
| Pyridoxine-dependent seizures: findings from recent studies pose new questions SM Gospe Jr Pediatric neurology 26 (3), 181-185, 2002 | 97 | 2002 |
| Current perspectives on pyridoxine-dependent seizures SM Gospe Jr The Journal of pediatrics 132 (6), 919-923, 1998 | 95 | 1998 |
| Neonatal vitamin-responsive epileptic encephalopathies SM Gospe Jr Chang Gung Med J 33 (1), 1-12, 2010 | 91 | 2010 |
| Prevalence of ALDH7A1 mutations in 18 North American pyridoxine‐dependent seizure (PDS) patients CL Bennett, Y Chen, S Hahn, IA Glass, SM Gospe Jr Epilepsia 50 (5), 1167-1175, 2009 | 90 | 2009 |
| Reduced GABA synthesis in pyridoxine-dependent seizures SM Gospe Jr, KL Olin, CL Keen The Lancet 343 (8906), 1133-1134, 1994 | 88 | 1994 |
| Fulminant demyelinating neuropathy mimicking cerebral death N Bakshi, RA Maselli, SM Gospe Jr, WG Ellis, C McDonald, RN Mandler Muscle & Nerve: Official Journal of the American Association of …, 1997 | 84 | 1997 |
| Proton magnetic resonance spectroscopic imaging in childhood ataxia with diffuse central nervous system hypomyelination G Tedeschi, HHLS R Schiffmann, NW Barton, ROB SM Gospe, JR Alger, ... Neurology 45, 1526-1532, 1995 | 82 | 1995 |
| Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency CR Coughlin, LA Tseng, JE Abdenur, C Ashmore, F Boemer, LA Bok, ... Journal of inherited metabolic disease 44 (1), 178-192, 2021 | 81 | 2021 |
| The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy CR Coughlin, MA Swanson, E Spector, NJL Meeks, KE Kronquist, ... Journal of inherited metabolic disease 42 (2), 353-361, 2019 | 80 | 2019 |
| Paraparesis, hypermanganesaemia, and polycythaemia: a novel presentation of cirrhosis SM Gospe, RD Caruso, MS Clegg, CL Keen, NR Pimstone, JM Ducore, ... Archives of disease in childhood 83 (5), 439-442, 2000 | 74 | 2000 |
| Longitudinal MRi findings in pyridoxine-dependent seizures SM Gospe, ST Hecht Neurology 51, 74-78, 1998 | 74 | 1998 |
