Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene

por Tomforde, Maike, Steinbach, Meike, Haack, Tobias B., Kuhlenbäumer, Gregor
Publicado 2023

Short-read genome sequencing allows ‘en route’ diagnosis of patients with atypical Friedreich ataxia

por Fleszar, Zofia, Dufke, Claudia, Sturm, Marc, Schüle, Rebecca, Schöls, Ludger, Haack, Tobias B., Synofzik, Matthis
Publicado 2023

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

por Binder, Gerhard, Ziegler, Julian, Schweizer, Roland, Habhab, Wisam, Haack, Tobias B., Heinrich, Tilman, Eggermann, Thomas
Publicado 2020

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

por Weisschuh, Nicole, Mazzola, Pascale, Bertrand, Miriam, Haack, Tobias B., Wissinger, Bernd, Kohl, Susanne, Stingl, Katarina
Publicado 2021

Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process

por Braun, Frederik, Gangfuß, Andrea, Stöbe, Petra, Haack, Tobias B., Schweiger, Bernd, Roos, Andreas, Schara, Ulrike
Publicado 2021

Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms

por Weisschuh, Nicole, Marino, Valerio, Schäferhoff, Karin, Richter, Paul, Park, Joohyun, Haack, Tobias B, Dell’Orco, Daniele
Publicado 2021

Long-term benefit of pallidal deep brain stimulation in a patient with VPS16-associated dystonia

por Petry-Schmelzer, Jan Niklas, Park, Joohyun, Haack, Tobias B., Visser-Vandewalle, Veerle, Barbe, Michael T., Wunderlich, Gilbert
Publicado 2022

Characterization of a novel non‐canonical splice site variant (c.886‐5T>A) in NBAS and description of the associated phenotype

por Priglinger, Claudia S., Rudolph, Günter, Schmid, Irene, Mazzola, Pascale, Haack, Tobias B., Reith, Milda, Stingl, Katarina, Weisschuh, Nicole
Publicado 2022

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

por Neuhofer, Christiane M., Catarino, Claudia B., Schmidt, Heinrich, Seelos, Klaus, Alhaddad, Bader, Haack, Tobias B., Klopstock, Thomas
Publicado 2020

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

por Hermann, Andreas, Kitzler, Hagen H., Pollack, Tobias, Biskup, Saskia, Krüger, Stefanie, Funke, Claudia, Terrile, Caterina, Haack, Tobias B.
Publicado 2017

Zonisamide‐responsive myoclonus in SEMA6B‐associated progressive myoclonic epilepsy

por Herzog, Rebecca, Hellenbroich, Yorck, Brüggemann, Norbert, Lohmann, Katja, Grimmel, Mona, Haack, Tobias B., von Spiczak, Sarah, Münchau, Alexander
Publicado 2021

A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype

por Mengel, David, Traschütz, Andreas, Reich, Selina, Leyva-Gutiérrez, Alejandra, Bender, Friedemann, Hauser, Stefan, Haack, Tobias B., Synofzik, Matthis
Publicado 2021

Characterization of cognitive impairment in adult polyglucosan body disease

por Zebhauser, Paul Theo, Cordts, Isabell, Hengel, Holger, Haslinger, Bernhard, Lingor, Paul, Akman, Hasan Orhan, Haack, Tobias B., Deschauer, Marcus
Publicado 2022

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

por Zimmermann, Milan, Deininger, Natalie, Willikens, Sophia, Haack, Tobias B., Grundmann-Hauser, Kathrin, Streubel, Berthold, Schreiber, Melanie, Lerche, Holger, Grimm, Alexander
Publicado 2020

Variant in the PLCG2 Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review

por Welzel, Tatjana, Oefelein, Lea, Holzer, Ursula, Müller, Amelie, Menden, Benita, Haack, Tobias B., Groβ, Miriam, Kuemmerle-Deschner, Jasmin B.
Publicado 2022

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

por Röeben, Benjamin, Marquetand, Justus, Bender, Benjamin, Billing, Heiko, Haack, Tobias B., Sanchez-Albisua, Iciar, Schöls, Ludger, Blom, Henk J., Synofzik, Matthis
Publicado 2017

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

por Park, Joohyun, Deininger, Natalie, Rautenberg, Maren, Saft, Carsten, Harmuth, Florian, Sturm, Marc, Riess, Olaf, Schöls, Ludger, Synofzik, Matthis, Haack, Tobias B.
Publicado 2021

Molecular Properties of Human Guanylate Cyclase-Activating Protein 3 (GCAP3) and Its Possible Association with Retinitis Pigmentosa

por Avesani, Anna, Bielefeld, Laura, Weisschuh, Nicole, Marino, Valerio, Mazzola, Pascale, Stingl, Katarina, Haack, Tobias B., Koch, Karl-Wilhelm, Dell’Orco, Daniele
Publicado 2022

Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort

por Nasser, Fadi, Kohl, Susanne, Kurtenbach, Anne, Kempf, Melanie, Biskup, Saskia, Zuleger, Theresia, Haack, Tobias B., Weisschuh, Nicole, Stingl, Katarina, Zrenner, Eberhart
Publicado 2022

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

por Grünert, Sarah C., Hannibal, Luciana, Schumann, Anke, Rosenbaum-Fabian, Stefanie, Beck-Wödl, Stefanie, Haack, Tobias B., Grimmel, Mona, Bertrand, Miriam, Spiekerkoetter, Ute
Publicado 2021