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222 results

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Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder.
Varvagiannis K, Hanquinet S, Billieux MH, De Luca R, Rimensberger P, Lidgren M, Guipponi M, Makrythanasis P, Blouin JL, Antonarakis SE, Steinfeld R, Kern I, Poretti A, Fluss J, Fokstuen S. Varvagiannis K, et al. Among authors: poretti a. Neuropediatrics. 2018 Apr;49(2):150-153. doi: 10.1055/s-0037-1613681. Epub 2017 Dec 28. Neuropediatrics. 2018. PMID: 29284168
Prenatal Brainstem Disruptions: Small Lesions-Big Problems.
Boltshauser E, Bauder F, Giarrana M, Hackenberg A, Lebon S, Roulet-Perez E, Schmid R, Schmitt-Mechelke T, Poretti A. Boltshauser E, et al. Among authors: poretti a. Neuropediatrics. 2017 Oct;48(5):350-355. doi: 10.1055/s-0037-1603516. Epub 2017 Jun 1. Neuropediatrics. 2017. PMID: 28571098 No abstract available.
Postnatal in-vivo MRI findings in anencephaly.
Poretti A, Meoded A, Ceritoglu E, Boltshauser E, Huisman TA. Poretti A, et al. Neuropediatrics. 2010 Dec;41(6):264-6. doi: 10.1055/s-0031-1271658. Epub 2011 Mar 28. Neuropediatrics. 2010. PMID: 21445817
Christianson syndrome: spectrum of neuroimaging findings.
Bosemani T, Zanni G, Hartman AL, Cohen R, Huisman TA, Bertini E, Poretti A. Bosemani T, et al. Among authors: poretti a. Neuropediatrics. 2014 Aug;45(4):247-51. doi: 10.1055/s-0033-1363091. Epub 2013 Nov 27. Neuropediatrics. 2014. PMID: 24285247
Fetal Diagnosis of Rhombencephalosynapsis.
Poretti A, Boltshauser E. Poretti A, et al. Neuropediatrics. 2015 Dec;46(6):357-8. doi: 10.1055/s-0035-1566754. Epub 2015 Nov 4. Neuropediatrics. 2015. PMID: 26535873 No abstract available.
222 results