Maintenance Infos

Browse by Creators

Navigate back| Up a level
Export as
Number of items: 33.

Varvagiannis, K; Hanquinet, S; Billieux, M H; De Luca, R; Rimensberger, P; Lidgren, M; Guipponi, M; Makrythanasis, P; Blouin, J L; Antonarakis, S E; Steinfeld, R; Kern, I; Poretti, A; Fluss, J; Fokstuen, S (2018). Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder. Neuropediatrics, 49(2):150-153.

Barth, P G; Aronica, E; Fox, S; Fluiter, K; Weterman, M A J; Poretti, A; Miller, D C; Boltshauser, Eugen; Harding, B; Santi, M; Baas, F (2017). Deregulated expression of EZH2 in congenital brainstem disconnection. Neuropathology and Applied Neurobiology, 43(4):358-365.

Meoded, A T; Bosemani, T; Botshauser, E; Scheer, I; Huisman, T A; Poretti, A (2017). Diffusion tensor Imaging and fiber tractography of pediatric posterior fossa malformations. Neurographics, 7(4):243-261.

Bosemani, T; Baum, J; Meoded, A; Boltshauser, E; Huisman, T A; Poretti, A (2015). Impaired growth and abnormal microstructure of supratentorial gray and white matter regions in a child with Joubert syndrome. Neurographics, 5(5):209-213.

Boltshauser, E; Poretti, A (2015). Normvarianten und Zufallsbefunde in der pädiatrischen MR-Diagnostik. Neuropaediatrie in Klinik und Praxis, 14(2):40-44.

Poretti, A; Häusler, Martin; von Moers, A; Baumgartner, B (2014). Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease? Cerebellum, 12(1):79-88.

Bolthauser, E; Poretti, A (2014). Cerebellum – small brain but large confusion: reappraisal 10 years later. In: D'Arrigo, S; Riva, D; Valente, E M. Paediatric Neurological disorders with cerebellar involvement. Montrouge: Editions John Libbey Eurotext, 3-8.

Poretti, A; Huisman, T A; Boltshauser, C (2014). Cystic malformations of the posterior fossa. In: D'Arrigo, S; Riva, D; Valente, E M. Paediatric Neurological Disorders with Cerebellar involvement. Montrouge: s.n., 109-120.

Poretti, A; Risen, S; Meoded, A; Northington, F J; Johnston, M V; Boltshauser, E; Huisman, T A (2013). Cerebellar agenesis: An extreme form of cerebellar disruption in preterm neonates. Journal of Pediatric Neuroradiology, 2(2):163-167.

Poretti, A; Palla, A; Tarnutzer, A A; Petersen, J A; Weber, K P; Straumann, D; Jung, H H (2013). Vestibular impairment in patients with Charcot-Marie-Tooth disease. Neurology, 80(23):2099-105.

Poretti, A; Boltshauser, E (2011). "Arima syndrome and bilateral retinoblastoma in interstitial deletion of 13q14.13-q32.3": where is the molar tooth sign? Brain and Development, 33(5):445-447.

Harting, I; Kotzaeridou, U; Poretti, A; Seitz, A; Pietz, J; Bendszus, M; Boltshauser, E (2011). Interpeduncular heterotopia in Joubert syndrome: a previously undescribed MR finding. AJNR. American Journal of Neuroradiology, 32(7):1286-1289.

Poretti, A; Huisman, T A G M; Scheer, I; Boltshauser, E (2011). Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. AJNR. American Journal of Neuroradiology, 32(8):1459-1463.

Poretti, A; Singhi, S; Huisman, T A G M; Meoded, A; Jallo, G; Ozturk, A; Boltshauser, E; Tekes, A (2011). Tecto-cerebellar dysraphism with occipital encephalocele: not a distinct disorder, but part of the Joubert syndrome spectrum? Neuropediatrics, 42(4):170-174.

Sukhudyan, B; Jaladyan, V; Melikyan, G; Schlump, J U; Boltshauser, E; Poretti, A (2010). Gómez-López-Hernández syndrome: reappraisal of the diagnostic criteria. European Journal of Pediatrics, 169(12):1523-1528.

Sturm, V; Leiba, H; Menke, M N; Valente, E M; Poretti, A; Landau, K; Boltshauser, E (2010). Ophthalmological findings in Joubert syndrome. Eye, 24(2):222-225.

Poretti, A; Limperopoulos, C; Roulet-Perez, E; Wolf, N I; Rauscher, C; Prayer, D; Müller, A; Weissert, M; Kotzaeridou, U; Du Plessis, A J; Huisman, T A G M; Boltshauser, E (2010). Outcome of severe unilateral cerebellar hypoplasia. Developmental Medicine and Child Neurology, 52(8):718-724.

Poretti, A; Balmer, C (2010). Wolff-Parkinson-White syndrome in a child with recurrent seizures. Cardiology in the Young, 20(1):78-79.

Poretti, A; Boltshauser, E (2009). "Rhombencephalosynapsis associated with Dandy-Walker malformation" is a molar tooth malformation. Journal of Neuroimaging, 19(2):198.

Poretti, A; Huisman, T A G M; Cowan, F M; Del Giudice, E; Jeannet, P Y; Prayer, D; Rutherford, M A; du Plessis, A J; Limperopoulos, C; Boltshauser, E (2009). Cerebellar cleft: confirmation of the neuroimaging pattern. Neuropediatrics, 40(5):228-233.

Poretti, A; Dietrich Alber, F; Bürki, S; Toelle, S P; Boltshauser, E (2009). Cognitive outcome in children with rhombencephalosynapsis. European Journal of Paediatric Neurology, 13(1):28-33.

Dill, P; Poretti, A; Boltshauser, E; Huisman, T A G M (2009). Fetal magnetic resonance imaging in midline malformations of the central nervous system and review of the literature. Journal of Neuroradiology, 36(3):138-146.

Poretti, A; Prayer, D; Boltshauser, E (2009). Morphological spectrum of prenatal cerebellar disruptions. European Journal of Paediatric Neurology, 13(5):397-407.

Poretti, A; Lips, U; Belvedere, M; Schmitt, B (2009). Onychomadesis: a rare side-effect of valproic Acid medication? Pediatric Dermatology, 26(6):749-750.

Rauscher, C; Poretti, A; Neuhann, T M; Forstner, R; Hahn, G; Koch, J; Tinschert, S; Boltshauser, E (2009). Pontine tegmental cap dysplasia: the severe end of the clinical spectrum. Neuropediatrics, 40(1):43-46.

Poretti, A; Anheier, T; Zimmermann, R; Boltshauser, E; Swiss Pediatric Surveillance Unit (SPSU) (2008). Neural tube defects in Switzerland from 2001 to 2007: are periconceptual folic acid recommendations being followed? Swiss Medical Weekly, 138(41-42):608-613.

Poretti, A; Leventer, R J; Cowan, F M; Rutherford, M A; Steinlin, M; Klein, A; Scheer, I; Huisman, T A G M; Boltshauser, E (2008). Cerebellar cleft: a form of prenatal cerebellar disruption. Neuropediatrics, 39(2):106-112.

Poretti, A; Wolf, N I; Boltshauser, E (2008). Differential diagnosis of cerebellar atrophy in childhood. European Journal of Paediatric Neurology, 12(3):155-167.

Poretti, A; Bartholdi, D; Gobara, S; Alber, F D; Boltshauser, E (2008). Gomez-Lopez-Hernandez syndrome: an easily missed diagnosis. European Journal of Medical Genetics, 51(3):197-208.

Poretti, A; Zehnder, D; Boltshauser, E; Grotzer, M A (2008). Long-term complications and quality of life in children with intraspinal tumors. Pediatric Blood & Cancer, 50(4):844-848.

Gerber, N U; Zehnder, D; Zuzak, T J; Poretti, A; Boltshauser, E; Grotzer, M A (2008). Outcome in children with brain tumours diagnosed in the first year of life: long-term complications and quality of life. Archives of Disease in Childhood, 93(7):582-589.

Zuzak, T J; Poretti, A; Drexel, B; Zehnder, D; Boltshauser, E; Grotzer, M A (2008). Outcome of children with low-grade cerebellar astrocytoma: long-term complications and quality of life. Child's Nervous System, 24(12):1447-1455.

Poretti, A; Brehmer, U; Scheer, I; Bernet, V; Boltshauser, E (2008). Prenatal and neonatal MR imaging findings in oral-facial-digital syndrome type VI. American Journal of Neuroradiology, 29(6):1090-1091.

This list was generated on Mon Sep 23 17:36:28 2019 CEST.