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799 results
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Epilepsy in inherited metabolic disorders.
Pascual JM, Campistol J, Gil-Nagel A. Pascual JM, et al. Among authors: campistol j. Neurologist. 2008 Nov;14(6 Suppl 1):S2-S14. doi: 10.1097/01.nrl.0000340787.30542.41. Neurologist. 2008. PMID: 19225367 Review.
[Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease].
Couce ML, Pérez-Cerdá C, García Silva MT, García Cazorla A, Martín-Hernández E, Castiñeiras D, Pineda M, Navarrete R, Campistol J, Fraga JM, Pérez B, Ugarte M. Couce ML, et al. Among authors: campistol j. Med Clin (Barc). 2011 Oct 22;137(11):500-3. doi: 10.1016/j.medcli.2011.01.018. Epub 2011 Jul 12. Med Clin (Barc). 2011. PMID: 21752405 Spanish.
Alternating hemiplegia of childhood: metabolic studies in the largest European series of patients.
Fons C, Campistol J, Panagiotakaki E, Giannotta M, Arzimanoglou A, Gobbi G, Neville B, Ebinger F, Nevšímalová S, Laan L, Casaer P, Spiel G, Ninan M, Sange G, Artuch R, Schyns T, Vavassori R, Poncelin D; ENRAH Consortium. Fons C, et al. Among authors: campistol j. Eur J Paediatr Neurol. 2012 Jan;16(1):10-4. doi: 10.1016/j.ejpn.2011.08.006. Epub 2011 Sep 25. Eur J Paediatr Neurol. 2012. PMID: 21945173
Creatine Defects and Central Nervous System.
Fons C, Campistol J. Fons C, et al. Among authors: campistol j. Semin Pediatr Neurol. 2016 Nov;23(4):285-289. doi: 10.1016/j.spen.2016.11.003. Epub 2016 Nov 17. Semin Pediatr Neurol. 2016. PMID: 28284390 Review.
Identifying the cortical substrates of interictal epileptiform activity in patients with extratemporal epilepsy: An EEG-fMRI sequential analysis and FDG-PET study.
Donaire A, Capdevila A, Carreño M, Setoain X, Rumià J, Aparicio J, Campistol J, Padilla N, Sanmartí F, Vernet O, Pintor L, Boget T, Ortells J, Bargalló N. Donaire A, et al. Among authors: campistol j. Epilepsia. 2013 Apr;54(4):678-90. doi: 10.1111/epi.12091. Epub 2013 Jan 30. Epilepsia. 2013. PMID: 23362864
Encephalopathies with intracranial calcification in children: clinical and genetic characterization.
Tonduti D, Panteghini C, Pichiecchio A, Decio A, Carecchio M, Reale C, Moroni I, Nardocci N, Campistol J, Garcia-Cazorla A, Perez Duenas B; Cerebral Calcification International Study Group, Chiapparini L, Garavaglia B, Orcesi S. Tonduti D, et al. Among authors: campistol j. Orphanet J Rare Dis. 2018 Aug 16;13(1):135. doi: 10.1186/s13023-018-0854-y. Orphanet J Rare Dis. 2018. PMID: 30111349 Free PMC article.
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