Novel mutation points to a hot spot in CDKN1C causing Silver–Russell syndrome

par Binder, Gerhard, Ziegler, Julian, Schweizer, Roland, Habhab, Wisam, Haack, Tobias B., Heinrich, Tilman, Eggermann, Thomas
Publié dans Clin Epigenetics (2020)

Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants

par Weisschuh, Nicole, Mazzola, Pascale, Bertrand, Miriam, Haack, Tobias B., Wissinger, Bernd, Kohl, Susanne, Stingl, Katarina
Publié dans Int J Mol Sci (2021)

LINS1-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum

par Neuhofer, Christiane M., Catarino, Claudia B., Schmidt, Heinrich, Seelos, Klaus, Alhaddad, Bader, Haack, Tobias B., Klopstock, Thomas
Publié dans Neurol Genet (2020)

Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb

par Umair, Muhammad, Shah, Khadim, Alhaddad, Bader, Haack, Tobias B, Graf, Elisabeth, Strom, Tim M, Meitinger, Thomas, Ahmad, Wasim
Publié dans Eur J Hum Genet (2017)

A Case of Beta-propeller Protein-associated Neurodegeneration due to a Heterozygous Deletion of WDR45

par Hermann, Andreas, Kitzler, Hagen H., Pollack, Tobias, Biskup, Saskia, Krüger, Stefanie, Funke, Claudia, Terrile, Caterina, Haack, Tobias B.
Publié dans Tremor Other Hyperkinet Mov (N Y) (2017)

Zonisamide‐responsive myoclonus in SEMA6B‐associated progressive myoclonic epilepsy

par Herzog, Rebecca, Hellenbroich, Yorck, Brüggemann, Norbert, Lohmann, Katja, Grimmel, Mona, Haack, Tobias B., von Spiczak, Sarah, Münchau, Alexander
Publié dans Ann Clin Transl Neurol (2021)

Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis

par Zimmermann, Milan, Deininger, Natalie, Willikens, Sophia, Haack, Tobias B., Grundmann-Hauser, Kathrin, Streubel, Berthold, Schreiber, Melanie, Lerche, Holger, Grimm, Alexander
Publié dans Neurol Sci (2020)

Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function

par Röeben, Benjamin, Marquetand, Justus, Bender, Benjamin, Billing, Heiko, Haack, Tobias B., Sanchez-Albisua, Iciar, Schöls, Ludger, Blom, Henk J., Synofzik, Matthis
Publié dans Orphanet J Rare Dis (2017)

Novel HIVEP2 Variants in Patients with Intellectual Disability

par Park, Joohyun, Colombo, Roberto, Schäferhoff, Karin, Janiri, Luigi, Grimmel, Mona, Sturm, Marc, Grasshoff, Ute, Dufke, Andreas, Haack, Tobias B., Kehrer, Martin
Publié dans Mol Syndromol (2019)

Correspondence on “Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment” by Roux...

par Park, Joohyun, Deininger, Natalie, Rautenberg, Maren, Saft, Carsten, Harmuth, Florian, Sturm, Marc, Riess, Olaf, Schöls, Ludger, Synofzik, Matthis, Haack, Tobias B.
Publié dans Genet Med (2021)

Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families

par Grünert, Sarah C., Hannibal, Luciana, Schumann, Anke, Rosenbaum-Fabian, Stefanie, Beck-Wödl, Stefanie, Haack, Tobias B., Grimmel, Mona, Bertrand, Miriam, Spiekerkoetter, Ute
Publié dans Diagnostics (Basel) (2021)

Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9

par Danhauser, Katharina, Herebian, Diran, Haack, Tobias B, Rodenburg, Richard J, Strom, Tim M, Meitinger, Thomas, Klee, Dirk, Mayatepek, Ertan, Prokisch, Holger, Distelmaier, Felix
Publié dans Eur J Hum Genet (2016)

Long‐term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort

par Beck‐Wödl, Stefanie, Kehrer, Christiane, Harzer, Klaus, Haack, Tobias B., Bürger, Friederike, Haas, Dorothea, Rieß, Angelika, Groeschel, Samuel, Krägeloh‐Mann, Ingeborg, Böhringer, Judith
Publié dans JIMD Rep (2020)

Thiamine Pyrophosphokinase Deficiency in Encephalopathic Children with Defects in the Pyruvate Oxidation Pathway

par Mayr, Johannes A., Freisinger, Peter, Schlachter, Kurt, Rolinski, Boris, Zimmermann, Franz A., Scheffner, Thomas, Haack, Tobias B., Koch, Johannes, Ahting, Uwe, Prokisch, Holger, Sperl, Wolfgang
Publié 2011

Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities

par Herebian, Diran, Alhaddad, Bader, Seibt, Annette, Schwarzmayr, Thomas, Danhauser, Katharina, Klee, Dirk, Harmsen, Stefani, Meitinger, Thomas, Strom, Tim M, Schulz, Ansgar, Mayatepek, Ertan, Haack, Tobias B, Distelmaier, Felix
Publié dans Eur J Hum Genet (2017)

Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis

par Ghezzi, Daniele, Baruffini, Enrico, Haack, Tobias B., Invernizzi, Federica, Melchionda, Laura, Dallabona, Cristina, Strom, Tim M., Parini, Rossella, Burlina, Alberto B., Meitinger, Thomas, Prokisch, Holger, Ferrero, Ileana, Zeviani, Massimo
Publié 2012

X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation

par Synofzik, Matthis, Müller vom Hagen, Jennifer, Haack, Tobias B, Wilhelm, Christian, Lindig, Tobias, Beck-Wödl, Stefanie, Nabuurs, Sander B, van Kuilenburg, André BP, de Brouwer, Arjan PM, Schöls, Ludger
Publié 2014

A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy

par Iuso, Arcangela, Alhaddad, Bader, Weigel, Corina, Kotzaeridou, Urania, Mastantuono, Elisa, Schwarzmayr, Thomas, Graf, Elisabeth, Terrile, Caterina, Prokisch, Holger, Strom, Tim M., Hoffmann, Georg F., Meitinger, Thomas, Haack, Tobias B.
Publié dans JIMD Rep (2018)

Spectrum of combined respiratory chain defects

par Mayr, Johannes A., Haack, Tobias B., Freisinger, Peter, Karall, Daniela, Makowski, Christine, Koch, Johannes, Feichtinger, René G., Zimmermann, Franz A., Rolinski, Boris, Ahting, Uwe, Meitinger, Thomas, Prokisch, Holger, Sperl, Wolfgang
Publié dans J Inherit Metab Dis (2015)

Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?

par Thiels, Charlotte, Fleger, Martin, Huemer, Martina, Rodenburg, Richard J., Vaz, Frederic M., Houtkooper, Riekelt H., Haack, Tobias B., Prokisch, Holger, Feichtinger, René G., Lücke, Thomas, Mayr, Johannes A., Wortmann, Saskia B.
Publié dans JIMD Rep (2016)