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The molar tooth sign is pathognomonic for Joubert syndrome!
Poretti A, Boltshauser E, Valente EM. Poretti A, et al. Among authors: boltshauser e. 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.
Morning glory disc anomaly in neurofibromatosis type 2.
Brodsky MC, Landau K, Wilson RS, Boltshauser E. Brodsky MC, et al. Among authors: boltshauser e. Arch Ophthalmol. 1999 Jun;117(6):839-41. Arch Ophthalmol. 1999. PMID: 10369605 No abstract available.
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
Valente EM, Brancati F, Silhavy JL, Castori M, Marsh SE, Barrano G, Bertini E, Boltshauser E, Zaki MS, Abdel-Aleem A, Abdel-Salam GM, Bellacchio E, Battini R, Cruse RP, Dobyns WB, Krishnamoorthy KS, Lagier-Tourenne C, Magee A, Pascual-Castroviejo I, Salpietro CD, Sarco D, Dallapiccola B, Gleeson JG; International JSRD Study Group. Valente EM, et al. Among authors: boltshauser e. Ann Neurol. 2006 Mar;59(3):527-34. doi: 10.1002/ana.20749. Ann Neurol. 2006. PMID: 16453322
Distinguishing the four genetic causes of Jouberts syndrome-related disorders.
Valente EM, Marsh SE, Castori M, Dixon-Salazar T, Bertini E, Al-Gazali L, Messer J, Barbot C, Woods CG, Boltshauser E, Al-Tawari AA, Salpietro CD, Kayserili H, Sztriha L, Gribaa M, Koenig M, Dallapiccola B, Gleeson JG. Valente EM, et al. Among authors: boltshauser e. Ann Neurol. 2005 Apr;57(4):513-9. doi: 10.1002/ana.20422. Ann Neurol. 2005. PMID: 15786477
Acute ischemic stroke in children versus young adults.
Bigi S, Fischer U, Wehrli E, Mattle HP, Boltshauser E, Bürki S, Jeannet PY, Fluss J, Weber P, Nedeltchev K, El-Koussy M, Steinlin M, Arnold M. Bigi S, et al. Among authors: boltshauser e. Ann Neurol. 2011 Aug;70(2):245-54. doi: 10.1002/ana.22427. Ann Neurol. 2011. PMID: 21823153
Outcome of severe unilateral cerebellar hypoplasia.
Poretti A, Limperopoulos C, Roulet-Perez E, Wolf NI, Rauscher C, Prayer D, Müller A, Weissert M, Kotzaeridou U, Du Plessis AJ, Huisman TA, Boltshauser E. Poretti A, et al. Among authors: boltshauser e. Dev Med Child Neurol. 2010 Aug;52(8):718-24. doi: 10.1111/j.1469-8749.2009.03522.x. Epub 2009 Oct 23. Dev Med Child Neurol. 2010. PMID: 19863638
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