Works by Beetz, Christian

Results: 83
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    Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots.

    Published in:
    Journal of Clinical Medicine, 2020, v. 9, n. 7, p. 2234, doi. 10.3390/jcm9072234
    By:
    • Auer-Grumbach, Michaela;
    • Rettl, Rene;
    • Ablasser, Klemens;
    • Agis, Hermine;
    • Beetz, Christian;
    • Duca, Franz;
    • Gattermeier, Martin;
    • Glaser, Franz;
    • Hacker, Markus;
    • Kain, Renate;
    • Kaufmann, Birgit;
    • Kovacs, Gabor G.;
    • Lampl, Christian;
    • Ljevakovic, Neira;
    • Nagele, Jutta;
    • Pölzl, Gerhard;
    • Quasthoff, Stefan;
    • Raimann, Bernadette;
    • Rauschka, Helmut;
    • Reiter, Christian
    Publication type:
    Article
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    Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology.

    Published in:
    Annals of Medicine, 2021, v. 53, n. 1, p. 1787, doi. 10.1080/07853890.2021.1988696
    By:
    • Skrahina, Volha;
    • Grittner, Ulrike;
    • Beetz, Christian;
    • Skripuletz, Thomas;
    • Juenemann, Martin;
    • Krämer, Heidrun H.;
    • Hahn, Katrin;
    • Rieth, Andreas;
    • Schaechinger, Volker;
    • Patten, Monica;
    • Tanislav, Christian;
    • Achenbach, Stephan;
    • Assmus, Birgit;
    • Knebel, Fabian;
    • Gingele, Stefan;
    • Skrahin, Aliaksandr;
    • Hartkamp, Jörg;
    • Förster, Toni M.;
    • Roesner, Sabine;
    • Pereira, Catarina
    Publication type:
    Article
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    Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology.

    Published in:
    Annals of Medicine, 2021, v. 53, n. 1, p. 1787, doi. 10.1080/07853890.2021.1988696
    By:
    • Skrahina, Volha;
    • Grittner, Ulrike;
    • Beetz, Christian;
    • Skripuletz, Thomas;
    • Juenemann, Martin;
    • Krämer, Heidrun H.;
    • Hahn, Katrin;
    • Rieth, Andreas;
    • Schaechinger, Volker;
    • Patten, Monica;
    • Tanislav, Christian;
    • Achenbach, Stephan;
    • Assmus, Birgit;
    • Knebel, Fabian;
    • Gingele, Stefan;
    • Skrahin, Aliaksandr;
    • Hartkamp, Jörg;
    • Förster, Toni M.;
    • Roesner, Sabine;
    • Pereira, Catarina
    Publication type:
    Article
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    The Rostock International Parkinson's Disease (ROPAD) Study: Protocol and Initial Findings.

    Published in:
    Movement Disorders, 2021, v. 36, n. 4, p. 1005, doi. 10.1002/mds.28416
    By:
    • Skrahina, Volha;
    • Gaber, Hanaa;
    • Vollstedt, Eva‐Juliane;
    • Förster, Toni M.;
    • Usnich, Tatiana;
    • Curado, Filipa;
    • Brüggemann, Norbert;
    • Paul, Jefri;
    • Bogdanovic, Xenia;
    • Zülbahar, Selen;
    • Olmedillas, Maria;
    • Skobalj, Snezana;
    • Ameziane, Najim;
    • Bauer, Peter;
    • Csoti, Ilona;
    • Koleva‐Alazeh, Natalia;
    • Grittner, Ulrike;
    • Westenberger, Ana;
    • Kasten, Meike;
    • Beetz, Christian
    Publication type:
    Article
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    ADAMTS19‐associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype.

    Published in:
    Clinical Genetics, 2020, v. 98, n. 1, p. 56, doi. 10.1111/cge.13760
    By:
    • Massadeh, Salam;
    • Alhashem, Amal;
    • Laar, Ingrid M.B.H.;
    • Alhabshan, Fahad;
    • Ordonez, Natalia;
    • Alawbathani, Salem;
    • Khan, Suliman;
    • Kabbani, Mohamed S.;
    • Chaikhouni, Farah;
    • Sheereen, Atia;
    • Almohammed, Iman;
    • Alghamdi, Bader;
    • Frohn‐Mulder, Ingrid;
    • Ahmad, Salim;
    • Beetz, Christian;
    • Bauer, Peter;
    • Wessels, Marja W.;
    • Alaamery, Manal;
    • Bertoli‐Avella, Aida M.
    Publication type:
    Article
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    A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).

    Published in:
    European Journal of Human Genetics, 2010, v. 18, n. 9, p. 1065, doi. 10.1038/ejhg.2010.68
    By:
    • Schlipf, Nina A.;
    • Beetz, Christian;
    • Schüle, Rebecca;
    • Stevanin, Giovanni;
    • Erichsen, Anne Kjersti;
    • Forlani, Sylvie;
    • Zaros, Cécile;
    • Karle, Kathrin;
    • Klebe, Stephan;
    • Klimpe, Sven;
    • Durr, Alexandra;
    • Otto, Susanne;
    • Tallaksen, Chantal M. E.;
    • Riess, Olaf;
    • Brice, Alexis;
    • Bauer, Peter;
    • Schöls, Ludger
    Publication type:
    Article
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    A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree.

    Published in:
    European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1276, doi. 10.1038/sj.ejhg.5201924
    By:
    • Mitne-Neto, Miguel;
    • Kok, Fernando;
    • Beetz, Christian;
    • Pessoa, André;
    • Bueno, Clarissa;
    • Graciani, Zodja;
    • Martyn, Marcilia;
    • Monteiro, Carlos B. M.;
    • Mitne, Guilherme;
    • Hubert, Paulo;
    • Nygren, Anders O. H.;
    • Valadares, Marcos;
    • Cerqueira, Antonia M. P.;
    • Starling, Alessandra;
    • Deufel, Thomas;
    • Zatz, Mayana
    Publication type:
    Article
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    In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11.

    Published in:
    PLoS Genetics, 2015, v. 11, n. 8, p. 1, doi. 10.1371/journal.pgen.1005454
    By:
    • Varga, Rita-Eva;
    • Khundadze, Mukhran;
    • Damme, Markus;
    • Nietzsche, Sandor;
    • Hoffmann, Birgit;
    • Stauber, Tobias;
    • Koch, Nicole;
    • Hennings, J. Christopher;
    • Franzka, Patricia;
    • Huebner, Antje K.;
    • Kessels, Michael M.;
    • Biskup, Christoph;
    • Jentsch, Thomas J.;
    • Qualmann, Britta;
    • Braulke, Thomas;
    • Kurth, Ingo;
    • Beetz, Christian;
    • Hübner, Christian A.
    Publication type:
    Article
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    A Hereditary Spastic Paraplegia Mouse Model Supports a Role of ZFYVE26/SPASTIZIN for the Endolysosomal System.

    Published in:
    PLoS Genetics, 2013, v. 9, n. 12, p. 1, doi. 10.1371/journal.pgen.1003988
    By:
    • Khundadze, Mukhran;
    • Kollmann, Katrin;
    • Koch, Nicole;
    • Biskup, Christoph;
    • Nietzsche, Sandor;
    • Zimmer, Geraldine;
    • Hennings, J. Christopher;
    • Huebner, Antje K.;
    • Symmank, Judit;
    • Jahic, Amir;
    • Ilina, Elena I.;
    • Karle, Kathrin;
    • Schöls, Ludger;
    • Kessels, Michael;
    • Braulke, Thomas;
    • Qualmann, Britta;
    • Kurth, Ingo;
    • Beetz, Christian;
    • Hübner, Christian A.
    Publication type:
    Article
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    A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.

    Published in:
    2013
    By:
    • Beetz, Christian;
    • Koch, Nicole;
    • Khundadze, Mukhran;
    • Zimmer, Geraldine;
    • Nietzsche, Sandor;
    • Hertel, Nicole;
    • Huebner, Antje-Kathrin;
    • Mumtaz, Rizwan;
    • Schweizer, Michaela;
    • Dirren, Elisabeth;
    • Karle, Kathrin N;
    • Irintchev, Andrey;
    • Alvarez, Victoria;
    • Redies, Christoph;
    • Westermann, Martin;
    • Kurth, Ingo;
    • Deufel, Thomas;
    • Kessels, Michael M;
    • Qualmann, Britta;
    • Hübner, Christian A
    Publication type:
    journal article
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    A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.

    Published in:
    Journal of Clinical Investigation, 2013, v. 123, n. 10, p. 4273, doi. 10.1172/JCI65665
    By:
    • Beetz, Christian;
    • Koch, Nicole;
    • Khundadze, Mukhran;
    • Zimmer, Geraldine;
    • Nietzsche, Sandor;
    • Hertel, Nicole;
    • Huebner, Antje-Kathrin;
    • Mumtaz, Rizwan;
    • Schweizer, Michaela;
    • Dirren, Elisabeth;
    • Karle, Kathrin N.;
    • Irintchev, Andrey;
    • Alvarez, Victoria;
    • Redies, Christoph;
    • Westermann, Martin;
    • Kurth, Ingo;
    • Deufel, Thomas;
    • Kessels, Michael M.;
    • Qualmann, Britta;
    • Hübner, Christian A.
    Publication type:
    Article
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    Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 18, p. 3083, doi. 10.1093/hmg/ddac098
    By:
    • Riedhammer, Korbinian M;
    • Burgemeister, Anna L;
    • Cantagrel, Vincent;
    • Amiel, Jeanne;
    • Siquier-Pernet, Karine;
    • Boddaert, Nathalie;
    • Hertecant, Jozef;
    • Kannouche, Patricia L;
    • Pouvelle, Caroline;
    • Htun, Stephanie;
    • Slavotinek, Anne M;
    • Beetz, Christian;
    • Diego-Alvarez, Dan;
    • Kampe, Kapil;
    • Fleischer, Nicole;
    • Awamleh, Zain;
    • Weksberg, Rosanna;
    • Kopajtich, Robert;
    • Meitinger, Thomas;
    • Suleiman, Jehan
    Publication type:
    Article
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    The LRRK2 p.L1795F variant causes Parkinson's disease in the European population.

    Published in:
    NPJ Parkinson's Disease, 2025, v. 11, n. 1, p. 1, doi. 10.1038/s41531-025-00896-2
    By:
    • Lange, Lara M.;
    • Levine, Kristin;
    • Fox, Susan H.;
    • Marras, Connie;
    • Ahmed, Nazish;
    • Kuznetsov, Nicole;
    • Vitale, Dan;
    • Iwaki, Hirotaka;
    • Lohmann, Katja;
    • Marsili, Luca;
    • Espay, Alberto J.;
    • Bauer, Peter;
    • Beetz, Christian;
    • Martin, Jessica;
    • Factor, Stewart A.;
    • Higginbotham, Lenora A.;
    • Chen, Honglei;
    • Leonard, Hampton;
    • Nalls, Mike A.;
    • Mencacci, Niccolo E.
    Publication type:
    Article
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    Prevalence of Fabry Disease among Patients with Parkinson's Disease.

    Published in:
    Parkinson's Disease (20420080), 2022, p. 1, doi. 10.1155/2022/1014950
    By:
    • Lackova, Alexandra;
    • Beetz, Christian;
    • Oppermann, Sebastian;
    • Bauer, Peter;
    • Pavelekova, Petra;
    • Lorincova, Tatiana;
    • Ostrozovicova, Miriam;
    • Kulcsarova, Kristina;
    • Cobejova, Jana;
    • Cobej, Martin;
    • Levicka, Petra;
    • Liesenerova, Simona;
    • Sendekova, Daniela;
    • Sukovska, Viktoria;
    • Gdovinova, Zuzana;
    • Han, Vladimir;
    • Rizig, Mie;
    • Houlden, Henry;
    • Skorvanek, Matej
    Publication type:
    Article
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    Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause.

    Published in:
    Human Mutation, 2007, v. 28, n. 7, p. 739, doi. 10.1002/humu.20508
    By:
    • Beetz, Christian;
    • Zuchner, Stephan;
    • Ashley-Koch, Allison;
    • Auer-Grumbach, Michaela;
    • Byrne, Paula;
    • Chinnery, Patrick F.;
    • Hutchinson, Michael;
    • McDermott, Christopher J.;
    • Meijer, Inge A.;
    • Nygren, Anders O.H.;
    • Pericak-Vance, Margaret;
    • Pyle, Angela;
    • Rouleau, Guy A.;
    • Schickel, Jörg;
    • Shaw, Pamela J.;
    • Deufel, Thomas
    Publication type:
    Article
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    A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.

    Published in:
    Human Genetics, 2021, v. 140, n. 6, p. 915, doi. 10.1007/s00439-020-02254-z
    By:
    • Vona, Barbara;
    • Mazaheri, Neda;
    • Lin, Sheng-Jia;
    • Dunbar, Lucy A.;
    • Maroofian, Reza;
    • Azaiez, Hela;
    • Booth, Kevin T.;
    • Vitry, Sandrine;
    • Rad, Aboulfazl;
    • Rüschendorf, Franz;
    • Varshney, Pratishtha;
    • Fowler, Ben;
    • Beetz, Christian;
    • Alagramam, Kumar N.;
    • Murphy, David;
    • Shariati, Gholamreza;
    • Sedaghat, Alireza;
    • Houlden, Henry;
    • Petree, Cassidy;
    • VijayKumar, Shruthi
    Publication type:
    Article
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    Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy.

    Published in:
    Human Genetics, 2021, v. 140, n. 4, p. 579, doi. 10.1007/s00439-020-02226-3
    By:
    • Ahmed, Ashfaque;
    • Wang, Meng;
    • Bergant, Gaber;
    • Maroofian, Reza;
    • Zhao, Rongjuan;
    • Alfadhel, Majid;
    • Nashabat, Marwan;
    • AlRifai, Muhammad Talal;
    • Eyaid, Wafaa;
    • Alswaid, Abdulrahman;
    • Beetz, Christian;
    • Qin, Yan;
    • Zhu, Tengfei;
    • Tian, Qi;
    • Xia, Lu;
    • Wu, Huidan;
    • Shen, Lu;
    • Dong, Shanshan;
    • Yang, Xinyi;
    • Liu, Cenying
    Publication type:
    Article
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    Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.

    Published in:
    NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00150-z
    By:
    • Cheema, Huma;
    • Bertoli-Avella, Aida M.;
    • Skrahina, Volha;
    • Anjum, Muhammad Nadeem;
    • Waheed, Nadia;
    • Saeed, Anjum;
    • Beetz, Christian;
    • Perez-Lopez, Jordi;
    • Rocha, Maria Eugenia;
    • Alawbathani, Salem;
    • Pereira, Catarina;
    • Hovakimyan, Marina;
    • Patric, Irene Rosita Pia;
    • Paknia, Omid;
    • Ameziane, Najim;
    • Cozma, Claudia;
    • Bauer, Peter;
    • Rolfs, Arndt
    Publication type:
    Article
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