Search Results - Haack, Tobias

First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy – a case report by Weisschuh, Nicole, Mazzola, Pascale, Heinrich, Tilman, Haack, Tobias, Wissinger, Bernd, Tonagel, Felix, Kelbsch, Carina

Get full text Get full text Get full text

Novel mutation points to a hot spot in CDKN1C causing Silver–Russell syndrome by Binder, Gerhard, Ziegler, Julian, Schweizer, Roland, Habhab, Wisam, Haack, Tobias B., Heinrich, Tilman, Eggermann, Thomas

Get full text Get full text Get full text

Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants by Weisschuh, Nicole, Mazzola, Pascale, Bertrand, Miriam, Haack, Tobias B., Wissinger, Bernd, Kohl, Susanne, Stingl, Katarina

Get full text Get full text Get full text

Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process by Braun, Frederik, Gangfuß, Andrea, Stöbe, Petra, Haack, Tobias B., Schweiger, Bernd, Roos, Andreas, Schara, Ulrike

Get full text Get full text Get full text

Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms by Weisschuh, Nicole, Marino, Valerio, Schäferhoff, Karin, Richter, Paul, Park, Joohyun, Haack, Tobias B, Dell’Orco, Daniele

Get full text Get full text Get full text

Long-term benefit of pallidal deep brain stimulation in a patient with VPS16-associated dystonia by Petry-Schmelzer, Jan Niklas, Park, Joohyun, Haack, Tobias B., Visser-Vandewalle, Veerle, Barbe, Michael T., Wunderlich, Gilbert

Get full text Get full text Get full text

LINS1-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum by Neuhofer, Christiane M., Catarino, Claudia B., Schmidt, Heinrich, Seelos, Klaus, Alhaddad, Bader, Haack, Tobias B., Klopstock, Thomas

Get full text Get full text Get full text

Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb by Umair, Muhammad, Shah, Khadim, Alhaddad, Bader, Haack, Tobias B, Graf, Elisabeth, Strom, Tim M, Meitinger, Thomas, Ahmad, Wasim

Get full text Get full text Get full text

A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of WDR45 by Hermann, Andreas, Kitzler, Hagen H., Pollack, Tobias, Biskup, Saskia, Krüger, Stefanie, Funke, Claudia, Terrile, Caterina, Haack, Tobias B.

Get full text Get full text Get full text

Zonisamide‐responsive myoclonus in SEMA6B‐associated progressive myoclonic epilepsy by Herzog, Rebecca, Hellenbroich, Yorck, Brüggemann, Norbert, Lohmann, Katja, Grimmel, Mona, Haack, Tobias B., von Spiczak, Sarah, Münchau, Alexander

Get full text Get full text Get full text

A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype by Mengel, David, Traschütz, Andreas, Reich, Selina, Leyva-Gutiérrez, Alejandra, Bender, Friedemann, Hauser, Stefan, Haack, Tobias B., Synofzik, Matthis

Get full text Get full text Get full text

Characterization of cognitive impairment in adult polyglucosan body disease by Zebhauser, Paul Theo, Cordts, Isabell, Hengel, Holger, Haslinger, Bernhard, Lingor, Paul, Akman, Hasan Orhan, Haack, Tobias B., Deschauer, Marcus

Get full text Get full text Get full text

Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis by Zimmermann, Milan, Deininger, Natalie, Willikens, Sophia, Haack, Tobias B., Grundmann-Hauser, Kathrin, Streubel, Berthold, Schreiber, Melanie, Lerche, Holger, Grimm, Alexander

Get full text Get full text Get full text

Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function by Röeben, Benjamin, Marquetand, Justus, Bender, Benjamin, Billing, Heiko, Haack, Tobias B., Sanchez-Albisua, Iciar, Schöls, Ludger, Blom, Henk J., Synofzik, Matthis

Get full text Get full text Get full text

Novel HIVEP2 Variants in Patients with Intellectual Disability by Park, Joohyun, Colombo, Roberto, Schäferhoff, Karin, Janiri, Luigi, Grimmel, Mona, Sturm, Marc, Grasshoff, Ute, Dufke, Andreas, Haack, Tobias B., Kehrer, Martin

Get full text Get full text Get full text

Correspondence on “Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment” by Roux... by Park, Joohyun, Deininger, Natalie, Rautenberg, Maren, Saft, Carsten, Harmuth, Florian, Sturm, Marc, Riess, Olaf, Schöls, Ludger, Synofzik, Matthis, Haack, Tobias B.

Get full text Get full text Get full text

Molecular Properties of Human Guanylate Cyclase-Activating Protein 3 (GCAP3) and Its Possible Association with Retinitis Pigmentosa by Avesani, Anna, Bielefeld, Laura, Weisschuh, Nicole, Marino, Valerio, Mazzola, Pascale, Stingl, Katarina, Haack, Tobias B., Koch, Karl-Wilhelm, Dell’Orco, Daniele

Get full text Get full text Get full text

Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort by Nasser, Fadi, Kohl, Susanne, Kurtenbach, Anne, Kempf, Melanie, Biskup, Saskia, Zuleger, Theresia, Haack, Tobias B., Weisschuh, Nicole, Stingl, Katarina, Zrenner, Eberhart

Get full text Get full text Get full text

Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families by Grünert, Sarah C., Hannibal, Luciana, Schumann, Anke, Rosenbaum-Fabian, Stefanie, Beck-Wödl, Stefanie, Haack, Tobias B., Grimmel, Mona, Bertrand, Miriam, Spiekerkoetter, Ute

Get full text Get full text Get full text

Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data by Demidov, German, Park, Joohyun, Armeanu‐Ebinger, Sorin, Roggia, Cristiana, Faust, Ulrike, Cordts, Isabell, Blandfort, Maria, Haack, Tobias B., Schroeder, Christopher, Ossowski, Stephan

Get full text Get full text Get full text