Search Results - Boltshauser, Eugen

Terminology in morphological anomalies of the cerebellum does matter by Poretti, Andrea, Boltshauser, Eugen

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Clinical utility gene card for: Joubert syndrome by Valente, Enza Maria, Brancati, Francesco, Boltshauser, Eugen, Dallapiccola, Bruno

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Clinical utility gene card for: Joubert Syndrome - update 2013 by Valente, Enza Maria, Brancati, Francesco, Boltshauser, Eugen, Dallapiccola, Bruno

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Diffusion Tensor Imaging in Progressive Multifocal Leukoencephalopathy: Early Predictor for Demyelination? by Huisman, Thierry A.G.M., Boltshauser, Eugen, Martin, Ernst, Nadal, David

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Delayed fenestration of Blake’s pouch with or without vermian hypoplasia: fetal MRI at 3 tesla versus 1.5 tesla by Kau, Thomas, Birnbacher, Robert, Schwärzler, Peter, Habernig, Sandra, Deutschmann, Hannes, Boltshauser, Eugen

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Diffusion Tensor Imaging in Cases of Adrenoleukodystrophy: Preliminary Experience as a Marker for Early Demyelination? by Schneider, Jacques F. L., Il’yasov, Kamil A., Boltshauser, Eugen, Hennig, Jürgen, Martin, Ernst

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Disruption of Cerebellar Development: Potential Complication of Extreme Prematurity by Messerschmidt, Agnes, Brugger, Peter C., Boltshauser, Eugen, Zoder, Gerlinde, Sterniste, Walter, Birnbacher, Robert, Prayer, Daniela

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Severe syndromic ID and skewed X-inactivation in a girl with NAA10 dysfunction and a novel heterozygous de novo NAA10 p.(His16Pro) variant - a case report by Bader, Ingrid, McTiernan, Nina, Darbakk, Christine, Boltshauser, Eugen, Ree, Rasmus, Ebner, Sabine, Mayr, Johannes A., Arnesen, Thomas

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Neonatal Neuroimaging Findings in Inborn Errors of Metabolism by Poretti, Andrea, Blaser, Susan I., Lequin, Maarten H., Fatemi, Ali, Meoded, Avner, Northington, Frances J., Boltshauser, Eugen, Huisman, Thierry A.G.M.

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RPGRIP1L mutations are mainly associated with the cerebellorenal phenotype of Joubert Syndrome Related Disorders by Brancati, Francesco, Travaglini, Lorena, Zablocka, Dominika, Boltshauser, Eugen, Accorsi, Patrizia, Montagna, Giorgia, Silhavy, Jennifer L., Barrano, Giuseppe, Bertini, Enrico, Emma, Francesco, Rigoli, Luciana, Dallapiccola, Bruno, Gleeson, Joseph G, Valente, Enza Maria

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SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis by Park, Julien H, Elpers, Christiane, Reunert, Janine, McCormick, Michael L, Mohr, Julia, Biskup, Saskia, Schwartz, Oliver, Rust, Stephan, Grüneberg, Marianne, Seelhöfer, Anja, Schara, Ulrike, Boltshauser, Eugen, Spitz, Douglas R, Marquardt, Thorsten

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Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features by 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.

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Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit by Hoffmann, Katrin, Müller, Juliane S., Stricker, Sigmar, Megarbane, Andre, Rajab, Anna, Lindner, Tom H., Cohen, Monika, Chouery, Eliane, Adaimy, Lynn, Ghanem, Ismat, Delague, Valerie, Boltshauser, Eugen, Talim, Beril, Horvath, Rita, Robinson, Peter N., Lochmüller, Hanns, Hübner, Christoph, Mundlos, Stefan

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eIF2B-Related Disorders: Antenatal Onset and Involvement of Multiple Organs by van der Knaap, Marjo S., van Berkel, Carola G. M., Herms, Jochen, van Coster, Rudy, Baethmann, Martina, Naidu, Sakkubai, Boltshauser, Eugen, Willemsen, Michèl A. A. P., Plecko, Barbara, Hoffmann, Georg F., Proud, Christopher G., Scheper, Gert C., Pronk, Jan C.

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Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics by Dafinger, Claudia, Liebau, Max Christoph, Elsayed, Solaf Mohamed, Hellenbroich, Yorck, Boltshauser, Eugen, Korenke, Georg Christoph, Fabretti, Francesca, Janecke, Andreas Robert, Ebermann, Inga, Nürnberg, Gudrun, Nürnberg, Peter, Zentgraf, Hanswalter, Koerber, Friederike, Addicks, Klaus, Elsobky, Ezzat, Benzing, Thomas, Schermer, Bernhard, Bolz, Hanno Jörn

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Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome by Powell, Laura, Olinger, Eric, Wedderburn, Sarah, Ramakumaran, Vijayalakshmi Salem, Kini, Usha, Clayton-Smith, Jill, Ramsden, Simon C, Rice, Sarah J, Barroso-Gil, Miguel, Wilson, Ian, Cowley, Lorraine, Johnson, Sally, Harris, Elizabeth, Montgomery, Tara, Bertoli, Marta, Boltshauser, Eugen, Sayer, John A

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Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study by 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

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Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation by 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.

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Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia by Schröder, Simone, Li, Yun, Yigit, Gökhan, Altmüller, Janine, Bader, Ingrid, Bevot, Andrea, Biskup, Saskia, Dreha-Kulaczewski, Steffi, Christoph Korenke, G., Kottke, Raimund, Mayr, Johannes A., Preisel, Martin, Toelle, Sandra P., Wente-Schulz, Sarah, Wortmann, Saskia B., Hahn, Heidi, Boltshauser, Eugen, Uhmann, Anja, Wollnik, Bernd, Brockmann, Knut

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Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene by 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.

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