Resultados de búsqueda - Katja Lohmann

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  1. 1
    Next Generation Sequencing and the Future of Genetic Diagnosis

    Next Generation Sequencing and the Future of Genetic Diagnosis por Katja Lohmann, Christine Klein

    Publicado 2014
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  2. 2
    Fixing the broken system of genetic locus symbols

    Fixing the broken system of genetic locus symbols por Connie Marras, Katja Lohmann, Anthony E. Lang, Christine Klein

    Publicado 2012
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  3. 3
    <scp>MDSGene</scp>: Extending the List of Isolated Dystonia Genes by <scp><i>VPS16</i></scp>, <scp><i>EIF2AK2</i></scp>, and <scp><i>AOPEP</i></scp>

    <scp>MDSGene</scp>: Extending the List of Isolated Dystonia Genes by <scp><i>VPS16</i></scp>, <scp><i>EIF2AK2</i></scp>, and <scp><i>AOPEP</i></scp> por Mirja Thomsen, Lara M. Lange, Christine Klein, Katja Lohmann

    Publicado 2023
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  4. 4
    Genetics and Pathogenesis of Dystonia

    Genetics and Pathogenesis of Dystonia por Mirja Thomsen, Lara M. Lange, Michael Zech, Katja Lohmann

    Publicado 2023
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  5. 5
    PINK1-Interacting Proteins: Proteomic Analysis of Overexpressed PINK1

    PINK1-Interacting Proteins: Proteomic Analysis of Overexpressed PINK1 por Aleksandar Raković, Anne Grünewald, Lisa Voges, Sarah Hofmann, Slobodanka Orolicki, Katja Lohmann, Christine Klein

    Publicado 2011
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  6. 6
    Mutations in PINK1 and Parkin Impair Ubiquitination of Mitofusins in Human Fibroblasts

    Mutations in PINK1 and Parkin Impair Ubiquitination of Mitofusins in Human Fibroblasts por Aleksandar Raković, Anne Grünewald, Jan Kottwitz, Norbert Brüggemann, Peter P. Pramstaller, Katja Lohmann, Christine Klein

    Publicado 2011
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  7. 7
    Novel <i>GNB1</i> missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability

    Novel <i>GNB1</i> missense mutation in a patient with generalized dystonia, hypotonia, and intellectual disability por Sofia Steinrücke, Katja Lohmann, Aloysius Domingo, Arndt Rolfs, Tobias Bäumer, Juliane Spiegler, Corinna Hartmann, Alexander Münchau

    Publicado 2016
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  8. 8
    Exome sequencing identifies a de novo <i><scp>SCN</scp>2<scp>A</scp></i> mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities

    Exome sequencing identifies a de novo <i><scp>SCN</scp>2<scp>A</scp></i> mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hy... por Anna‐Lena Baasch, Irina Hüning, Christian Gilissen, Joerg Klepper, Joris A. Veltman, Gabriele Gillessen‐Kaesbach, Alexander Hoischen, Katja Lohmann

    Publicado 2014
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  9. 9
    Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders

    Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders por Joanne Trinh, Krishna Kumar Kandaswamy, Martin Werber, Maximilian E. R. Weiss, Gabriela Oprea, Shivendra Kishore, Katja Lohmann, Arndt Rolfs

    Publicado 2019
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  10. 10
    Functional movement disorders in dopa-responsive dystonia

    Functional movement disorders in dopa-responsive dystonia por Feline Hamami, Jannik Prasuhn, Leon-Claas van Well, Katja Lohmann, Christine Klein, Norbert Brüggemann, Tobias Bäumer, Alexander Münchau, Anne Weißbach

    Publicado 2025
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  11. 11
    Blastic plasmacytoid dendritic cell neoplasm and cerebral toxoplasmosis: a case report

    Blastic plasmacytoid dendritic cell neoplasm and cerebral toxoplasmosis: a case report por Florescu, Anna Maria, Sørensen, Anne Louise Tølbøll, Nielsen, Henrik Vedel, Tolnai, Daniel, Sjö, Lene Dissing, Larsen, Katja Lohmann, Al-Karagholi, Mohammad Al-Mahdi

    Publicado 2022
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  12. 12
    <i>Shaking Up Ataxia</i>: <scp><i>FGF14</i></scp> and <scp><i>RFC1</i></scp> Repeat Expansions in Affected and Unaffected Members of a Chilean Family

    <i>Shaking Up Ataxia</i>: <scp><i>FGF14</i></scp> and <scp><i>RFC1</i></scp> Repeat Expansions in Affected and Unaffected Members of a Chilean Family por Paula Saffie Awad, Katja Lohmann, Yasmin Hirmas, Frauke Hinrichs, Mirja Thomsen, Marcelo Kauffman, Theresa Lüth, Joanne Trinh, Ana Westenberger, Pedro Chaná‐Cuevas, Christine Klein

    Publicado 2023
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  13. 13
    Updated MDSGene review on the clinical and genetic spectrum of LRRK2 variants in Parkinson´s disease

    Updated MDSGene review on the clinical and genetic spectrum of LRRK2 variants in Parkinson´s disease por Cleusa Adriane Menegassi Bianchi Krüger, Shen‐Yang Lim, Alissa Buhrmann, Fenja L. Fahrig, Carolin Gabbert, Natascha Bahr, Harutyun Madoev, Connie Marras, Christine Klein, Katja Lohmann

    Publicado 2025
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  14. 14
    Etiology of musician’s dystonia

    Etiology of musician’s dystonia por Alexander Schmidt, H.‐C. Jabusch, Eckart Altenmüller, J. Hagenah, Norbert Brüggemann, Katja Lohmann, Leonie Enders, P. L. Kramer, Rachel Saunders‐Pullman, Susan Bressman, Alexander Münchau, Christine Klein

    Publicado 2009
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  15. 15
    <scp><i>RFC1</i></scp> and <scp><i>FGF14</i></scp> Repeat Expansions in Serbian Patients with Cerebellar Ataxia

    <scp><i>RFC1</i></scp> and <scp><i>FGF14</i></scp> Repeat Expansions in Serbian Patients with Cerebellar Ataxia por Andona Milovanović, Nataša Dragaševic‐Mišković, Mirja Thomsen, Max Borsche, Frauke Hinrichs, Ana Westenberger, Christine Klein, Norbert Brüggemann, Marija Branković, Ana Marjanović, Marina Svetel, Vladimir Kostić, Katja Lohmann

    Publicado 2024
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  16. 16
    Heterozygous carriers of a <i>Parkin</i> or <i>PINK1</i> mutation share a common functional endophenotype

    Heterozygous carriers of a <i>Parkin</i> or <i>PINK1</i> mutation share a common functional endophenotype por Bart F.L. van Nuenen, Manuel Weiß, Bastiaan R. Bloem, Kathrin Reetz, Thilo van Eimeren, Katja Lohmann, J. Hagenah, Peter P. Pramstaller, Ferdinand Binkofski, Christine Klein, Hartwig R. Siebner

    Publicado 2008
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  17. 17
    Mutant Parkin Impairs Mitochondrial Function and Morphology in Human Fibroblasts

    Mutant Parkin Impairs Mitochondrial Function and Morphology in Human Fibroblasts por Anne Grünewald, Lisa Voges, Aleksandar Raković, Meike Kasten, Himesha Vandebona, Claudia Hemmelmann, Katja Lohmann, Slobodanka Orolicki, Alfredo Ramı́rez, Anthony H.V. Schapira, Peter P. Pramstaller, Carolyn M. Sue, Christine Klein

    Publicado 2010
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  18. 18
    Multi‐omic landscaping of human midbrains identifies disease‐relevant molecular targets and pathways in advanced‐stage Parkinson's disease

    Multi‐omic landscaping of human midbrains identifies disease‐relevant molecular targets and pathways in advanced‐stage Parkinson's disease por Lucas Caldi Gomes, Ana Galhoz, Gaurav Jain, Anna‐Elisa Roser, Fabian Maass, Eleonora Carboni, Elisabeth Barski, Christof Lenz, Katja Lohmann, Christine Klein, Mathias Bähr, André Fischer, Michael P. Menden, Paul Lingor

    Publicado 2022
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  19. 19
    Genotype–Phenotype Relations in Primary Familial Brain Calcification: Systematic <scp>MDSGene</scp> Review

    Genotype–Phenotype Relations in Primary Familial Brain Calcification: Systematic <scp>MDSGene</scp> Review por Alexander Balck, Susen Schaake, Neele Kuhnke, Aloysius Domingo, Harutyun Madoev, Jason Margolesky, Valerija Dobričić, Daniel Alvarez‐Fischer, Björn‐Hergen Laabs, Meike Kasten, Wei Luo, Gaël Nicolas, Connie Marras, Katja Lohmann, Christine Klein, Ana Westenberger

    Publicado 2021
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  20. 20
    <scp><i>GBA</i></scp> Variants in Parkinson's Disease: Clinical, Metabolomic, and Multimodal Neuroimaging Phenotypes

    <scp><i>GBA</i></scp> Variants in Parkinson's Disease: Clinical, Metabolomic, and Multimodal Neuroimaging Phenotypes por Andrea Greuel, Jean‐Pierre Trezzi, Enrico Glaab, Marina C. Ruppert, Franziska Maier, Christian Jäger, Zdenka Hodak, Katja Lohmann, Yilong Ma, David Eidelberg, Lars Timmermann, Karsten Hiller, Marc Tittgemeyer, Alexander Drzezga, Nico J. Diederich, Carsten Eggers

    Publicado 2020
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