SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis von 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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Incidence and outcomes of symptomatic neonatal arterial ischemic stroke von 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

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Pontocerebellar Hypoplasia: a Pattern Recognition Approach von Rüsch, Christina T., Bölsterli, Bigna K., Kottke, Raimund, Steinfeld, Robert, Boltshauser, Eugen

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Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia von Schmidt, Wolfgang M., Rutledge, S. Lane, Schüle, Rebecca, Mayerhofer, Benjamin, Züchner, Stephan, Boltshauser, Eugen, Bittner, Reginald E.

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Mutations in INPP5E , encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies von Al-Gazali, Lihadh, Silhavy, Jennifer L, Kayserili, Hulya, Fazzi, Elisa, Bertini, Enrico, Bayoumi, Riad A, Abdel-Aleem, Alice, Travaglini, Lorena, Valente, Enza Maria, Gleeson, Joseph G, Field, Seth J, Sztriha, Laszlo, Boltshauser, Eugen, Majerus, Philip W, Brancati, Francesco, Schurmans, Stephane, Scott, Lesley C, Gayral, Stephanie, Jacoby, Monique, Dallapiccola, Bruno, Bielas, Stephanie L, Kisseleva, Marina V, Rosti, Rasim Ozgur, Swistun, Dominika, Zaki, Maha S

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Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome von 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

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Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes von Travaglini, Lorena, Shalev, Stavit, Attié-Bitach, Tania, Alkindy, Adila, Sagie, Tally Lerman, Mazzotta, Annalisa, Lee, Ji Eun, Hildebrandt, Friedhelm, Lev, Dorit, Elkhartoufi, Nadia, Michelson, Marina, Inglehearn, Chris, Munnich, Arnold, Thomas, Sophie, Ben-Zeev, Bruria, Russ, Carsten, Dallapiccola, Bruno, Fede, Carmelo, Gleeson, Joseph G, Tolentino, Jerlyn C, Yaron, Yuval, Krause, Amanda, Mougou-Zerelli, Soumaya, Johnson, Colin A, Otto, Edgar A, Silhavy, Jennifer L, Cibulskis, Kristian, Salpietro, Carmelo D, Diplas, Bill H, Davis, Erica E, Sougnez, Carrie, Lee, Jeong Ho, Saad, Ali, Illi, Barbara, Swistun, Dominika, Saunier, Sophie, Boltshauser, Eugen, Vekemans, Michel, Gabriel, Stacey, Szymanska, Katarzyna, Adams, Matthew, Logan, Clare V, Romani, Sveva, Valente, Enza Maria, Brancati, Francesco, Mikula, Mario, Strom, Charles M, Katsanis, Nicholas, Iannicelli, Miriam, Roume, Joelle, Held, Susanne

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Acute ischemic stroke in children versus young adults von Bigi, Sandra, Fischer, Urs, Wehrli, Edith, Mattle, Heinrich P., Boltshauser, Eugen, Bürki, Sarah, Jeannet, Pierre-Yves, Fluss, Joel, Weber, Peter, Nedeltchev, Krassen, El-Koussy, Marwan, Steinlin, Maja, Arnold, Marcel

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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 von Bader, Ingrid, McTiernan, Nina, Darbakk, Christine, Boltshauser, Eugen, Ree, Rasmus, Ebner, Sabine, Mayr, Johannes A., Arnesen, Thomas

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The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis von Arrigoni, Filippo, Romaniello, Romina, Peruzzo, Denis, Poretti, Andrea, Bassi, Maria Teresa, Pierpaoli, Carlo, Valente, Enza Maria, Nuovo, Sara, Boltshauser, Eugen, Huisman, Thierry André Gerard Marie, Triulzi, Fabio, Borgatti, Renato

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Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia von 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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Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation von Rymen, Daisy, Lindhout, Martijn, Spanou, Maria, Ashrafzadeh, Farah, Benkel, Ira, Betzler, Cornelia, Coubes, Christine, Hartmann, Hans, Kaplan, Julie D., Ballhausen, Diana, Koch, Johannes, Lotte, Jan, Mohammadi, Mohammad Hasan, Rohrbach, Marianne, Dinopoulos, Argirios, Wermuth, Marieke, Willis, Daniel, Brugger, Karin, Wevers, Ron A., Boltshauser, Eugen, Bierau, Jörgen, Mayr, Johannes A., Wortmann, Saskia B.

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The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued von Schröder, Simone, Yigit, Gökhan, Li, Yun, Altmüller, Janine, Büttel, Hans-Martin, Fiedler, Barbara, Kretzschmar, Christoph, Nürnberg, Peter, Seeger, Jürgen, Serpieri, Valentina, Valente, Enza Maria, Wollnik, Bernd, Boltshauser, Eugen, Brockmann, Knut

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Mutations in CEP290 , which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome von Valente, Enza Maria, Gleeson, Joseph G, Silhavy, Jennifer L, Brancati, Francesco, Barrano, Giuseppe, Krishnaswami, Suguna Rani, Castori, Marco, Lancaster, Madeline A, Boltshauser, Eugen, Boccone, Loredana, Al-Gazali, Lihadh, Fazzi, Elisa, Signorini, Sabrina, Louie, Carrie M, Bellacchio, Emanuele, Related Disorders Study Group, International Joubert Syndrome, Bertini, Enrico, Dallapiccola, Bruno

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Neonatal neuroimaging findings in inborn errors of metabolism von 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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The Molar Tooth Sign Is Pathognomonic for Joubert Syndrome von Poretti, Andrea, MD, Boltshauser, Eugen, MD, Valente, Enza Maria, MD, PhD

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Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation von 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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Clinical utility gene card for: Joubert syndrome--update 2013 von Valente, Enza Maria, Brancati, Francesco, Boltshauser, Eugen, Dallapiccola, Bruno

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Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia von Wiame, Elsa, Tyteca, Donatienne, Pierrot, Nathalie, Collard, François, Amyere, Mustapha, Noel, Gaëtane, Desmedt, Jonathan, Nassogne, Marie-Cécile, Vikkula, Miikka, Octave, Jean-Noël, Vincent, Marie-Françoise, Courtoy, Pierre J, Boltshauser, Eugen, van Schaftingen, Emile

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Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies von Zimoń, Magdalena, Baets, Jonathan, Auer-Grumbach, Michaela, Berciano, José, Garcia, Antonio, Lopez-Laso, Eduardo, Merlini, Luciano, Hilton-Jones, David, McEntagart, Meriel, Crosby, Andrew H., Barisic, Nina, Boltshauser, Eugen, Shaw, Christopher E., Landouré, Guida, Ludlow, Christy L., Gaudet, Rachelle, Houlden, Henry, Reilly, Mary M., Fischbeck, Kenneth H., Sumner, Charlotte J., Timmerman, Vincent, Jordanova, Albena, Jonghe, Peter De

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