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Number of items: 65.

Asadollahi, Reza; Strauss, Justin E; Zenker, Martin; Beuing, Oliver; Edvardson, Simon; Elpeleg, Orly; Strom, Tim M; Joset, Pascal; Niedrist, Dunja; Otte, Christine; Oneda, Beatrice; Boonsawat, Paranchai; Azzarello-Burri, Silvia; Bartholdi, Deborah; Papik, Michael; Zweier, Markus; Haas, Cordula; Ekici, Arif B; Baumer, Alessandra; Boltshauser, Eugen; Steindl, Katharina; Nothnagel, Michael; Schinzel, Albert; Stoeckli, Esther T; Rauch, Anita (2018). Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. European Journal of Human Genetics, 26(2):197-209.

Hackenberg, Annette; Boltshauser, Eugen; Gerth-Kahlert, Christina; Stahr, Nikolai; Azzarello-Burri, Silvia; Plecko, Barbara (2017). Horizontal gaze palsy in two brothers with compound heterozygous ROBO3 gene mutations. Neuropediatrics, 48(01):57-58.

Romaniello, Romina; Arrigoni, Filippo; Panzeri, Elena; Poretti, Andrea; Micalizzi, Alessia; Citterio, Andrea; Bedeschi, Maria Francesca; Berardinelli, Angela; Cusmai, Raffaella; D'Arrigo, Stefano; Ferraris, Alessandro; Hackenberg, Annette; Kuechler, Alma; Mancardi, Margherita; Nuovo, Sara; Oehl-Jaschkowitz, Barbara; Rossi, Andrea; Signorini, Sabrina; Tüttelmann, Frank; Wahl, Dagmar; Hehr, Ute; Boltshauser, Eugen; Bassi, Maria Teresa; Valente, Enza Maria; Borgatti, Renato (2017). Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation. European Radiology, 27(12):5093.

Boltshauser, Eugen (2017). In Memoriam Andrea Poretti. Cerebellum, 16(5-6):986-987.

Romaniello, Romina; Arrigoni, Filippo; Panzeri, Elena; Poretti, Andrea; Micalizzi, Alessia; Citterio, Andrea; Bedeschi, Maria Francesca; Berardinelli, Angela; Cusmai, Raffaella; D'Arrigo, Stefano; Ferraris, Alessandro; Hackenberg, Annette; Kuechler, Alma; Mancardi, Margherita; Nuovo, Sara; Oehl-Jaschkowitz, Barbara; Rossi, Andrea; Signorini, Sabrina; Tüttelmann, Frank; Wahl, Dagmar; Hehr, Ute; Boltshauser, Eugen; Bassi, Maria Teresa; Valente, Enza Maria; Borgatti, Renato (2017). Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation. European Radiology, 27(12):5080-5092.

Boltshauser, Eugen; Bauder, Florian; Giarrana, Miriam; Hackenberg, Anette; Lebon, Sébastien; Roulet-Perez, Eliane; Schmid, Regula; Schmitt-Mechelke, Thomas; Poretti, Andrea (2017). Prenatal Brainstem Disruptions: Small Lesions-Big Problems. Neuropediatrics, 48(5):350-355.

Boltshauser, Eugen; Huisman, Thierry A G M (2017). Prof. Andrea Poretti, MD (12.04.1977-22.03.2017). Neuropediatrics, 48(5):325-326.

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.

Boltshauser, Eugen (2017). MR Neuroimaging: Brain, Spine, Peripheral Nerves. Neuropediatrics, 48(3):207-208.

Ravindran, Ethiraj; Hu, Hao; Yuzwa, Scott A; Hernandez-Miranda, Luis R; Kraemer, Nadine; Ninnemann, Olaf; Musante, Luciana; Boltshauser, Eugen; Schindler, Detlev; Hübner, Angela; Reinecker, Hans-Christian; Ropers, Hans-Hilger; Birchmeier, Carmen; Miller, Freda D; Wienker, Thomas F; Hübner, Christoph; Kaindl, Angela M (2017). Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation. PLoS Genetics, 13(4):e1006746.

Picker-Minh, Sylvie; Hartenstein, Sebastian; Proquitté, Hans; Fröhler, Sebastian; Raile, Vera; Kraemer, Nadine; Apeshiotis, Sarah; Leipoldt, Michael; Kalache, Karim D; Morris-Rosendahl, Deborah; Boltshauser, Eugen; Chen, Wei; Kaindl, Angela M (2017). Pontine Tegmental Cap Dysplasia in an Extremely Preterm Infant and Review of the Literature. Journal of Child Neurology, 32(3):334-340.

Kornfeld, Salome; Studer, Martina; Winkelbeiner, Stephanie; Regényi, Mária; Boltshauser, Eugen; Steinlin, Maja; Swiss Neuropediatric Stroke Group (2017). Quality of life after paediatric ischaemic stroke. Developmental Medicine and Child Neurology, 59(1):45-51.

Boltshauser, Eugen (2016). Book Review of Neuroendocrine disorders in children. Neuropediatrics, 47(6):413-414.

Poretti, Andrea; Capone, Andrea; Hackenberg, Anette; Kraegeloh-Mann, Ingeborg; Kurlemann, Gerhard; Laube, Guido; Pietz, Joachim; Schimmel, Mareike; Schwindt, Wolfram; Scheer, Ianina; Boltshauser, Eugen (2016). Cerebellar bottom-of-fissure dysplasia-a novel cerebellar gray matter neuroimaging pattern. Cerebellum, 15(6):705-709.

Roosing, Susanne; Romani, Marta; Isrie, Mala; Rosti, Rasim Ozgur; Micalizzi, Alessia; Musaev, Damir; Mazza, Tommaso; Al-Gazali, Lihadh; Altunoglu, Umut; Boltshauser, Eugen; D'Arrigo, Stefano; De Keersmaecker, Bart; Kayserili, Hülya; Brandenberger, Sarah; Kraoua, Ichraf; Mark, Paul R; McKanna, Trudy; Van Keirsbilck, Joachim; Moerman, Philippe; Poretti, Andrea; Puri, Ratna; Van Esch, Hilde; Gleeson, Joseph G; Valente, Enza Maria (2016). Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. Journal of Medical Genetics, 53(9):608-615.

Boltshauser, Eugen (2016). Book Review of The placenta and neurodisability. Neuropediatrics, 47(4):280.

Poretti, Andrea; Boltshauser, Eugen; Huisman, Thierry A G M (2016). Cerebellar and brainstem malformations. Neuroimaging clinics of North America, 26(3):341-357.

Micalizzi, Alessia; Poretti, Andrea; Romani, Marta; Ginevrino, Monia; Mazza, Tommaso; Aiello, Chiara; Zanni, Ginevra; Baumgartner, Bastian; Borgatti, Renato; Brockmann, Knut; Camacho, Ana; Cantalupo, Gaetano; Haeusler, Martin; Hikel, Christiane; Klein, Andrea; Mandrile, Giorgia; Mercuri, Eugenio; Rating, Dietz; Romaniello, Romina; Santorelli, Filippo Maria; Schimmel, Mareike; Spaccini, Luigina; Teber, Serap; von Moers, Arpad; Wente, Sarah; Ziegler, Andreas; Zonta, Andrea; Bertini, Enrico; Boltshauser, Eugen; Valente, Enza Maria (2016). Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome). European Journal of Human Genetics, 24(9):1262-1267.

Poretti, Andrea; Boltshauser, Eugen; Huisman, Thierry A G M (2016). Prenatal cerebellar disruptions: neuroimaging spectrum of findings in correlation with likely mechanisms and etiologies of injury. Neuroimaging clinics of North America, 26(3):359-372.

Wente, Sarah; Schröder, Simone; Buckard, Johannes; Büttel, Hans-Martin; von Deimling, Florian; Diener, Wilfried; Häussler, Martin; Hübschle, Susanne; Kinder, Silvia; Kurlemann, Gerhard; Kretzschmar, Christoph; Lingen, Michael; Maroske, Wiebke; Mundt, Dirk; Sánchez-Albisua, Iciar; Seeger, Jürgen; Toelle, Sandra P; Boltshauser, Eugen; Brockmann, Knut (2016). Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study. Orphanet Journal of Rare Diseases, 11(1):104.

Bosemani, Thangamadhan; Steinlin, Maja; Toelle, Sandra P; Beck, Jürgen; Boltshauser, Eugen; Huisman, Thierry A G M; Poretti, Andrea (2016). Pseudotumoral hemicerebellitis as a mimicker of Lhermitte-Duclos disease in children: does neuroimaging help to differentiate them? Child's Nervous System, 32(5):865-871.

Poretti, Andrea; Boltshauser, Eugen; Huisman, Thierry A G M (2016). Chiari malformations and syringohydromyelia in children. Seminars in Ultrasound, Ct, and Mr, 37(2):129-142.

Poretti, Andrea; Boltshauser, Eugen; Huisman, Thierry A G M (2016). Pre- and postnatal neuroimaging of congenital cerebellar abnormalities. Cerebellum, 15(1):5-9.

Neubauer, Bernd; Plecko, Barbara; Boltshauser, Eugen (2016). A message to the readers of neuropediatrics. Neuropediatrics, 47(1):1-2.

Amir, Tali; Poretti, Andrea; Boltshauser, Eugen; Huisman, Thierry A G M (2016). Differential diagnosis of ventriculomegaly and brainstem kinking on fetal MRI. Brain & Development, 38(1):103-108.

Klein, Jessica L; Lemmon, Monica E; Northington, Frances J; Boltshauser, Eugen; Huisman, Thierry A G M; Poretti, Andrea (2016). Clinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvement. Cerebellum & Ataxias, 3(1):online.

Chong, Jessica X; Yu, Joon-Ho; Lorentzen, Peter; Park, Karen M; Jamal, Seema M; Tabor, Holly K; Rauch, Anita; Saenz, Margarita Sifuentes; Boltshauser, Eugen; Patterson, Karynne E; Nickerson, Deborah A; Bamshad, Michael J (2016). Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features. Genetics in Medicine, 18(8):788-795.

Schmidt, Wolfgang M; Rutledge, S Lane; Schüle, Rebecca; Mayerhofer, Benjamin; Züchner, Stephan; Boltshauser, Eugen; Bittner, Reginald E (2015). Disruptive SCYL1 mutations underlie a syndrome characterized by recurrent episodes of liver failure, peripheral neuropathy, cerebellar atrophy, and ataxia. American Journal of Human Genetics, 97(6):855-861.

Toelle, Sandra P; Poretti, Andrea; Weber, Peter; Seute, Tatjana; Bromberg, Jacoline E C; Scheer, Ianina; Boltshauser, Eugen (2015). Cerebellar Hypoplasia and Dysmorphia in Neurofibromatosis Type 1. Cerebellum, 14(6):642-649.

Poretti, Andrea; Wolf, Nicole I; Boltshauser, Eugen (2015). Differential Diagnosis of Cerebellar Atrophy in Childhood: An Update. Neuropediatrics, 46(6):359-370.

Poretti, Andrea; Boltshauser, Eugen (2015). Fetal Diagnosis of Rhombencephalosynapsis. Neuropediatrics, 46(6):357-358.

Boltshauser, Eugen; Scheer, Ianina; Huisman, Thierry A G M; Poretti, Andrea (2015). Cerebellar cysts in children: a pattern recognition approach. Cerebellum, 14(3):308-316.

Elsayed, Solaf M; Phillips, Jennifer B; Heller, Raoul; Thoenes, Michaela; Elsobky, Ezzat; Nürnberg, Gudrun; Nürnberg, Peter; Seland, Saskia; Ebermann, Inga; Altmüller, Janine; Thiele, Holger; Toliat, Mohammad; Körber, Friederike; Hu, Xue-Jia; Wu, Yun-Dong; Zaki, Maha S; Abdel-Salam, Ghada; Gleeson, Joseph; Boltshauser, Eugen; Westerfield, Monte; Bolz, Hanno J (2015). Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene. Human Molecular Genetics, 24(9):2594-2603.

Grunt, Sebastian; Mazenauer, Lea; Buerki, Sarah E; Boltshauser, Eugen; Mori, Andrea Capone; Datta, Alexandre N; Fluss, Joël; Mercati, Danielle; Keller, Elmar; Maier, Oliver; Poloni, Claudia; Ramelli, Gian-Paolo; Schmitt-Mechelke, Thomas; Steinlin, Maja (2015). Incidence and outcomes of symptomatic neonatal arterial ischemic stroke. Pediatrics, 135(5):e1220-e1228.

Poretti, Andrea; Denecke, Jonas; Miller, Douglas C; Schiffmann, Holger; Buhk, Jan Hendrik; Grange, Dorothy K; Doherty, Dan; Boltshauser, Eugen (2015). Brainstem disconnection: two additional patients and expansion of the phenotype. Neuropediatrics, 46(2):139-144.

Sorte, Danielle Eckart; Poretti, Andrea; Newsome, Scott D; Boltshauser, Eugen; Huisman, Thierry A G M; Izbudak, Izlem (2015). Longitudinally extensive myelopathy in children. Pediatric Radiology, 45(2):244-257.

Lange, Max; Kasper, Burkhard; Bohring, Axel; Rutsch, Frank; Kluger, Gerhard; Hoffjan, Sabine; Spranger, Stephanie; Behnecke, Anne; Ferbert, Andreas; Hahn, Andreas; Oehl-Jaschkowitz, Barbara; Graul-Neumann, Luitgard; Diepold, Katharina; Schreyer, Isolde; Bernhard, Matthias K; Mueller, Franziska; Siebers-Renelt, Ulrike; Beleza-Meireles, Ana; Uyanik, Goekhan; Janssens, Sandra; Boltshauser, Eugen; Winkler, Juergen; Schuierer, Gerhard; Hehr, Ute (2015). 47 patients with FLNA associated periventricular nodular heterotopia. Orphanet Journal of Rare Diseases, 10(134):online.

Bosemani, Thangamadhan; Orman, Gunes; Boltshauser, Eugen; Tekes, Aylin; Huisman, Thierry A G M; Poretti, Andrea (2015). Congenital abnormalities of the posterior fossa. Radiographics, 35(1):200-220.

Roosing, Susanne; Hofree, Matan; Kim, Sehyun; Scott, Eric; Copeland, Brett; Romani, Marta; Silhavy, Jennifer L; Rosti, Rasim O; Schroth, Jana; Mazza, Tommaso; Miccinilli, Elide; Zaki, Maha S; Swoboda, Kathryn J; Milisa-Drautz, Joanne; Dobyns, William B; Mikati, Mohamed A; İncecik, Faruk; Azam, Matloob; Borgatti, Renato; Romaniello, Romina; Boustany, Rose-Mary; Clericuzio, Carol L; D'Arrigo, Stefano; Strømme, Petter; Boltshauser, Eugen; Stanzial, Franco; Mirabelli-Badenier, Marisol; Moroni, Isabella; Bertini, Enrico; Emma, Francesco; Steinlin, Maja; Hildebrandt, Friedhelm; Johnson, Colin A; Freilinger, Michael; Vaux, Keith K; Gabriel, Stacey B; Aza-Blanc, Pedro; Heynen-Genel, Susanne; Ideker, Trey; Dynlacht, Brian D; Lee, Ji Eun; Valente, Enza Maria; Kim, Joon; Gleeson, Joseph G (2015). Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. eLife, 4:e06602.

Poretti, Andrea; Boltshauser, Eugen (2015). Terminology in morphological anomalies of the cerebellum does matter. Cerebellum & Ataxias, 2(8):online.

Poretti, Andrea; Christen, Hans-Jürgen; Elton, Lindsay E; Baumgartner, Manuela; Korenke, Georg Christoph; Sukhudyan, Biayna; Hethey, Sven; Cross, Elizabeth; Steinlin, Maja; Boltshauser, Eugen (2014). Horizontal head titubation in infants with Joubert syndrome: a new finding. Developmental Medicine and Child Neurology, 56(10):1016-1020.

Poretti, Andrea; Boltshauser, Eugen; Huisman, Thierry A G M (2014). Congenital brain abnormalities: an update on malformations of cortical development and infratentorial malformations. Seminars in Neurology, 34(3):239-248.

Poretti, Andrea; Boltshauser, Eugen; Doherty, Dan (2014). Cerebellar hypoplasia: differential diagnosis and diagnostic approach. American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 166C(2):211-226.

Poretti, Andrea; Boltshauser, Eugen; Valente, Enza Maria (2014). The molar tooth sign is pathognomonic for Joubert syndrome! Pediatric Neurology, 50(6):e15-e16.

Bosemani, Thangamadhan; Anghelescu, Cristina; Boltshauser, Eugen; Hoon, Alexander H; Pearl, Phillip L; Craiu, Dana; Johnston, Michael V; Huisman, Thierry A G M; Poretti, Andrea (2014). Subthalamic nucleus involvement in children: A neuroimaging pattern-recognition approach. European Journal of Paediatric Neurology, 18(3):249-256.

Alqahtani, Eman; Huisman, Thierry A G M; Boltshauser, Eugen; Scheer, Ianina; Güngör, Tayfun; Tekes, Aylin; Maegawa, Gustavo H; Poretti, Andrea (2014). Mucopolysaccharidoses type I and II: New neuroimaging findings in the cerebellum. European Journal of Paediatric Neurology, 18(2):211-217.

Studer, Martina; Boltshauser, Eugen; Capone Mori, Andrea; Datta, Alexandre; Fluss, Joel; Mercati, Danielle; Hackenberg, Annette; Keller, Elmar; Maier, Oliver; Marcoz, Jean-Pierre; Ramelli, Gian-Paolo; Poloni, Claudia; Schmid, Regula; Schmitt-Mechelke, Thomas; Wehrli, Edith; Heinks, Theda; Steinlin, Maja (2014). Factors affecting cognitive outcome in early pediatric stroke. Neurology, 82(9):784-92.

Martin, Florence; Kana, Veronika; Mori, Andrea Capone; Fischer, Dirk; Parkin, Nicolas; Boltshauser, Eugen; Rushing, Elisabeth Jane; Klein, Andrea (2014). Neurofibromatosis type 1 (NF1) with an unusually severe phenotype due to digeny for NF1 and ryanodine receptor 1 associated myopathy. European Journal of Pediatrics, 173(12):1691-1694.

Poretti, Andrea; Meoded, Avner; Cohen, Kenneth J; Grotzer, Michael A; Boltshauser, Eugen; Huisman, Thierry A G M (2013). Apparent diffusion coefficient of pediatric cerebellar tumors: A biomarker of tumor grade? Pediatric Blood & Cancer, 60(12):2036-2041.

Zeilhofer, Ulrike B; Scheer, Ianina; Warmuth-Metz, Monika; Rushing, Elisabeth J; Pietsch, Torsten; Boltshauser, Eugen; Grotzer, Michael A; Gerber, Nicolas U (2013). Natural history of a medulloblastoma: 30 months of wait and see in a child with a cerebellar incidentaloma. Child's Nervous System, 29(7):1207-1210.

Poretti, Andrea; Benson, Jane E; Huisman, Thierry A G M; Boltshauser, Eugen (2013). Acute ataxia in children: approach to clinical presentation and role of additional investigations. Neuropediatrics, 44(3):127-141.

Goeggel Simonetti, Barbara; Ritter, Barbara; Gautschi, Matthias; Wehrli, Edith; Boltshauser, Eugen; Schmitt-Mechelke, Thomas; Weber, Peter; Weissert, Markus; El-Koussy, Marwan; Steinlin, Maja (2013). Basilar artery stroke in childhood. Developmental Medicine and Child Neurology, 55(1):65-70.

Poretti, Andrea; Boltshauser, Eugen (2013). Dominantly inherited nonprogressive cerebellar hypoplasia identified in utero: a note of doubt. Journal of Child Neurology, 28(2):278.

Poretti, Andrea; Blaser, Susan I; Lequin, Maarten H; Fatemi, Ali; Meoded, Avner; Northington, Frances J; Boltshauser, Eugen; Huisman, Thierry A G M (2013). Neonatal neuroimaging findings in inborn errors of metabolism. Journal of Magnetic Resonance Imaging (JMRI), 37(2):294-312.

Stettler, Sonja; El-Koussy, Marwan; Ritter, Barbara; Boltshauser, Eugen; Jeannet, Pierre-Y; Kolditz, Petra; Meyer-Heim, Andreas; Steinlin, Maja (2013). Non-traumatic spinal cord ischaemia in childhood - clinical manifestation, neuroimaging and outcome. European Journal of Paediatric Neurology, 17(2):176-184.

Abela, Lucia; Rushing, Elisabeth Jane; Ares, Carmen; Scheer, Ianina; Bozinov, Oliver; Boltshauser, Eugen; Grotzer, Michael A (2013). Pediatric papillary tumors of the pineal region: to observe or to treat following gross total resection? Child's Nervous System, 29(2):307-310.

Travaglini, Lorena; Brancati, Francesco; Silhavy, Jennifer; Iannicelli, Miriam; Nickerson, Elizabeth; Elkhartoufi, Nadia; Scott, Eric; Spencer, Emily; Gabriel, Stacey; Thomas, Sophie; Ben-Zeev, Bruria; Bertini, Enrico; Boltshauser, Eugen; Chaouch, Malika; Cilio, Maria Roberta; de Jong, Mirjam M; Kayserili, Hulya; Ogur, Gonul; Poretti, Andrea; Signorini, Sabrina; Uziel, Graziella; Zaki, Maha S; Johnson, Colin; Attié-Bitach, Tania; Gleeson, Joseph G; Valente, Enza Maria (2013). Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. European Journal of Human Genetics, 21(10):1074-1078.

Wille, David-Alexander; Bozinov, Oliver; Scheer, Ianina; Grotzer, Michael A; Boltshauser, Eugen (2012). Isolated intraspinal juvenile Xanthogranuloma in an infant presenting as acute paraplegia. Neuropediatrics, 44(03):171-173.

Schneider, Christian; Vosbeck, Jürg; Grotzer, Michael A; Boltshauser, Eugen; Kothbauer, Karl F (2012). Anaplastic ganglioglioma: a very rare intramedullary spinal cord tumor. Pediatric Neurosurgery, 48(1):42-7.

Toelle, Sandra; Poretti, Andrea; Scheer, Ianina; Huisman, Thierry; Boltshauser, Eugen (2012). Bannayan-Riley-Ruvalcaba syndrome with progressive spinal epidural lipomatosis. Neuropediatrics, 43(4):221-224.

Lee, Ji Eun; Silhavy, Jennifer L; Zaki, Maha S; Schroth, Jana; Bielas, Stephanie L; Marsh, Sarah E; Olvera, Jesus; Brancati, Francesco; Iannicelli, Miriam; Ikegami, Koji; Schlossman, Andrew M; Merriman, Barry; Attié-Bitach, Tania; Logan, Clare V; Glass, Ian A; Cluckey, Andrew; Louie, Carrie M; Lee, Jeong Ho; Raynes, Hilary R; Rapin, Isabelle; Castroviejo, Ignacio P; Setou, Mitsutoshi; Barbot, Clara; Boltshauser, Eugen; Nelson, Stanley F; Hildebrandt, Friedhelm; Johnson, Colin A; Doherty, Daniel A; Valente, Enza Maria; Gleeson, Joseph G (2012). CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nature Genetics, 44(2):193-199.

Kau, Thomas; Veraguth, Dorothe; Schiegl, Heinrich; Scheer, Ianina; Boltshauser, Eugen (2012). Chudley-McCullough syndrome: case report and review of the neuroimaging spectrum. Neuropediatrics, 43(1):44-7.

Poretti, Andrea; Boltshauser, Eugen (2012). Crossed cerebro-cerebellar diaschisis. Neuropediatrics, 43(2):53-54.

Poretti, Andrea; Vitiello, Giuseppina; Hennekam, Raoul C M; Arrigoni, Filippo; Bertini, Enrico; Borgatti, Renato; Brancati, Francesco; D'Arrigo, Stefano; Faravelli, Francesca; Giordano, Lucio; Huisman, Thierry A G M; Iannicelli, Miriam; Kluger, Gerhard; Kyllerman, Marten; Landgren, Magnus; Lees, Melissa M; Pinelli, Lorenzo; Romaniello, Romina; Scheer, Ianina; Schwarz, Christoph E; Spiegel, Ronen; Tibussek, Daniel; Valente, Enza Maria; Boltshauser, Eugen (2012). Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. Orphanet Journal of Rare Diseases, 7:4.

Poretti, Andrea; Mall, Volker; Smitka, Martin; Grunt, Sebastian; Risen, Sarah; Toelle, Sandra P; Benson, Jane E; Yoshida, Shoko; Jung, Nikolai H; Tinschert, Sigrid; Neuhann, Teresa M; Rauch, Anita; Steinlin, Maja; Meoded, Avner; Huisman, Thierry A G M; Boltshauser, Eugen (2012). Macrocerebellum: significance and pathogenic considerations. Cerebellum, 11(4):1026-1036.

This list was generated on Tue Oct 16 07:39:54 2018 CEST.