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The molar tooth sign is pathognomonic for Joubert syndrome!
Poretti A, Boltshauser E, Valente EM. Poretti A, et al. Pediatr Neurol. 2014 Jun;50(6):e15-6. doi: 10.1016/j.pediatrneurol.2013.11.003. Epub 2013 Nov 14. Pediatr Neurol. 2014. PMID: 24731480 No abstract available.
Differential diagnosis of cerebellar atrophy in childhood.
Poretti A, Wolf NI, Boltshauser E. Poretti A, et al. Eur J Paediatr Neurol. 2008 May;12(3):155-67. doi: 10.1016/j.ejpn.2007.07.010. Epub 2007 Sep 14. Eur J Paediatr Neurol. 2008. PMID: 17869142 Review.
Diffusion tensor imaging in Joubert syndrome.
Poretti A, Boltshauser E, Loenneker T, Valente EM, Brancati F, Il'yasov K, Huisman TA. Poretti A, et al. AJNR Am J Neuroradiol. 2007 Nov-Dec;28(10):1929-33. doi: 10.3174/ajnr.A0703. Epub 2007 Sep 26. AJNR Am J Neuroradiol. 2007. PMID: 17898198
Gomez-Lopez-Hernandez syndrome: an easily missed diagnosis.
Poretti A, Bartholdi D, Gobara S, Alber FD, Boltshauser E. Poretti A, et al. Eur J Med Genet. 2008 May-Jun;51(3):197-208. doi: 10.1016/j.ejmg.2008.01.004. Epub 2008 Feb 8. Eur J Med Genet. 2008. PMID: 18342593
Cognitive outcome in children with rhombencephalosynapsis.
Poretti A, Alber FD, Bürki S, Toelle SP, Boltshauser E. Poretti A, et al. Eur J Paediatr Neurol. 2009 Jan;13(1):28-33. doi: 10.1016/j.ejpn.2008.02.005. Epub 2008 Apr 14. Eur J Paediatr Neurol. 2009. PMID: 18407532
Cerebellar cleft: a form of prenatal cerebellar disruption.
Poretti A, Leventer RJ, Cowan FM, Rutherford MA, Steinlin M, Klein A, Scheer I, Huisman TA, Boltshauser E. Poretti A, et al. Neuropediatrics. 2008 Apr;39(2):106-12. doi: 10.1055/s-2008-1081460. Neuropediatrics. 2008. PMID: 18671186
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