Resultados da pesquisa - Christian Beetz

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  1. 1
    Functional Mutation Analysis Provides Evidence for a Role of REEP1 in Lipid Droplet Biology

    Functional Mutation Analysis Provides Evidence for a Role of REEP1 in Lipid Droplet Biology Por Julia Falk, Magdalena Rohde, Mohamed M. Bekhite, Sophie Neugebauer, Peter Hemmerich, Michael Kiehntopf, Thomas Deufel, Christian A. Hübner, Christian Beetz

    Publicado em 2014
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  2. 2
    Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features

    Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features Por Matthis Synofzik, Christian Beetz, Claudia Bauer, Marc Bonin, Elena Sánchez-Ferrero, Tanja Schmitz‐Hübsch, Ullrich Wüllner, Thomas Nägele, Olaf Rieß, Lüdger Schöls, Peter Bauer

    Publicado em 2011
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  3. 3
    Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm?

    Gaucher Disease Diagnosis Using Lyso-Gb1 on Dry Blood Spot Samples: Time to Change the Paradigm? Por Tama Dinur, Peter Bauer, Christian Beetz, Guido Kramp, Claudia Cozma, Marius‐Ionuţ Iuraşcu, Michal Becker‐Cohen, Majdolen Istaiti, Arndt Rolfs, Ari Zimran, Shoshana Revel‐Vilk

    Publicado em 2022
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  4. 4
    Novel clinical and genetic insight into CXorf56-associated intellectual disability

    Novel clinical and genetic insight into CXorf56-associated intellectual disability Por María Eugenia Rocha, Tainá Regina Damaceno Silveira, Erina Sasaki, Daíse Moreno Sás, Charles Marques Lourenço, Krishna Kumar Kandaswamy, Christian Beetz, Arndt Rolfs, Peter Bauer, William Reardon, Aida M. Bertoli‐Avella

    Publicado em 2019
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  5. 5
    Defects in ER–endosome contacts impact lysosome function in hereditary spastic paraplegia

    Defects in ER–endosome contacts impact lysosome function in hereditary spastic paraplegia Por Rachel Allison, James R. Edgar, Guy Pearson, Tania Rizo, Timothy Mark Newton, Sven Günther, Fiamma Berner, Jennifer Hague, James W. Connell, Jürgen Winkler, Jennifer Lippincott‐Schwartz, Christian Beetz, Beate Winner, Evan Reid

    Publicado em 2017
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  6. 6
    Association of Genetic Predisposition With Solitary Schwannoma or Meningioma in Children and Young Adults

    Association of Genetic Predisposition With Solitary Schwannoma or Meningioma in Children and Young Adults Por Omar Pathmanaban, Katherine V. Sadler, Ian Kamaly-Asl, Andrew T. King, Scott Rutherford, Charlotte Hammerbeck-Ward, Martin G. McCabe, John‐Paul Kilday, Christian Beetz, Nicola K. Poplawski, D. Gareth Evans, Miriam J. Smith

    Publicado em 2017
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  7. 7
    Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting

    Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting Por Aida M. Bertoli‐Avella, Mandy Radefeldt, Ruslan Al‐Ali, Luba M. Pardo, Sabrina Lemke, Anika Leubauer, D.L. Polla, Rebecca Hörnicke, Lígia S. Almeida, Krishna Kumar Kandaswamy, Christian Beetz, Jorge Pinto Basto, Peter Bauer

    Publicado em 2025
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  8. 8
    Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V

    Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V Por Christian Beetz, Thomas R. Pieber, Nicole Hertel, Maria Schabhüttl, Carina Fischer, Slave Trajanoski, Elisabeth Graf, Silke Keiner, Ingo Kurth, Thomas Wieland, Rita-Eva Varga, Vincent Timmerman, Mary M. Reilly, Tim M. Strom, Michaela Auer‐Grumbach

    Publicado em 2012
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  9. 9
    Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure

    Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure Por Christian Beetz, Adam Johnson, Amber L. Schuh, Seema Thakur, Rita-Eva Varga, Thomas Fothergill, Nicole Hertel, Ewa Bomba-Warczak, Hölger Thiele, Gudrun Nürnberg, Janine Altmüller, Renu Saxena, Edwin R. Chapman, Erik W. Dent, Peter Nürnberg, Anjon Audhya

    Publicado em 2013
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  10. 10
    A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree

    A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree Por Miguel Mitne‐Neto, Fernando Kok, Christian Beetz, André Luiz Santos Pessoa, Clarissa Bueno, Zódja Graciani, Marcília Lima Martyn, Carlos Bandeira de Mello Monteiro, Guilherme Mitne, Paulo Hubert, Anders O.H. Nygren, Marcos Valadares, Antonia Cerqueira, Alessandra Starling, Thomas Deufel, Mayana Zatz

    Publicado em 2007
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  11. 11
    In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11

    In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11 Por Rita-Eva Varga, Mukhran Khundadze, Markus Daμμe, Sándor Nietzsche, Birgit Hoffmann, Tobias Stauber, Nicole Koch, J. Christopher Hennings, Patricia Franzka, Antje K. Huebner, Michael M. Kessels, Christoph Biskup, Thomas J. Jentsch, Britta Qualmann, Thomas Braulke, Ingo Kurth, Christian Beetz, Christian A. Hübner

    Publicado em 2015
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  12. 12
    A Hereditary Spastic Paraplegia Mouse Model Supports a Role of ZFYVE26/SPASTIZIN for the Endolysosomal System

    A Hereditary Spastic Paraplegia Mouse Model Supports a Role of ZFYVE26/SPASTIZIN for the Endolysosomal System Por Mukhran Khundadze, Katrin Kollmann, Nicole Koch, Christoph Biskup, Sándor Nietzsche, Geraldine Zimmer‐Bensch, J. Christopher Hennings, Antje K. Huebner, Judit Symmank, Amir Jahić, Elena I. Ilina, Kathrin N. Karle, Lüdger Schöls, Michael M. Kessels, Thomas Braulke, Britta Qualmann, Ingo Kurth, Christian Beetz, Christian A. Hübner

    Publicado em 2013
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  13. 13
    A spastic paraplegia mouse model reveals REEP1-dependent ER shaping

    A spastic paraplegia mouse model reveals REEP1-dependent ER shaping Por Christian Beetz, Nicole Koch, Mukhran Khundadze, Geraldine Zimmer‐Bensch, Sándor Nietzsche, Nicole Hertel, Antje-Kathrin Huebner, Rizwan Mumtaz, Michaela Schweizer, Elisabeth Dirren, Kathrin N. Karle, Andrey Irintchev, Victoria Álvarez, Christoph Redies, Martin Westermann, Ingo Kurth, Thomas Deufel, Michael M. Kessels, Britta Qualmann, Christian A. Hübner

    Publicado em 2013
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  14. 14
    Mutations in <i>LZTR1</i> add to the complex heterogeneity of schwannomatosis

    Mutations in <i>LZTR1</i> add to the complex heterogeneity of schwannomatosis Por Miriam J. Smith, B. Isidor, Christian Beetz, Simon G. Williams, Sanjeev S. Bhaskar, Wilfrid Richer, James O’Sullivan, Beverly Anderson, Sarah B. Daly, Jill Urquhart, Alan Fryer, Cecilie F. Rustad, Samantha J. Mills, Amir Samii, Daniel du Plessis, Dorothy Halliday, S. Barbarot, Franck Bourdeaut, William G. Newman, D. Gareth Evans

    Publicado em 2014
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  15. 15
    The Rostock International Parkinson's Disease (<scp>ROPAD</scp>) Study: Protocol and Initial Findings

    The Rostock International Parkinson's Disease (<scp>ROPAD</scp>) Study: Protocol and Initial Findings Por Volha Skrahina, Hanaa Gaber, Eva‐Juliane Vollstedt, Toni M. Förster, Tatiana Usnich, Filipa Curado, Norbert Brüggemann, Jefri J Paul, Xenia Bogdanovic, Selen Zülbahar, Maria Olmedillas, Snezana Skobalj, Najim Ameziane, Peter Bauer, Ilona Csóti, Natalia Koleva‐Alazeh, Ulrike Grittner, Ana Westenberger, Meike Kasten, Christian Beetz, Christine Klein, Arndt Rolfs

    Publicado em 2020
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  16. 16
    Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia

    Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia Por Victoria Álvarez, Elena Sánchez-Ferrero, Christian Beetz, Marta Díaz, Belén Alonso, Ana I. Corao, Josep Gámez, Jesús Esteban‐Pérez, Juan Francisco Gonzalo, Samuel Ignacio Pascual Pascual, Adolfo López de Munaín, Germán Morís, Renne Ribacoba, Celedonio Márquez, Jordi Rosell, Rosario Marín, María J. García‐Barcina, Emilia del Castillo, Carmen Benito, Eliécer Coto

    Publicado em 2010
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  17. 17
    Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3

    Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3 Por Uwe Kornak, Inès Mademan, Marte Schinke, Martin Voigt, Peter Krawitz, Jochen Hecht, Florian Barvencik, Thorsten Schinke, Sebastian Gießelmann, Frank Timo Beil, A Pou-Serradell, Juan J. Vílchez, Christian Beetz, Tine Deconinck, Vincent Timmerman, Christoph Kaether, Peter De Jonghe, Christian A. Hübner, Andreas Gal, Michael Amling, Stefan Mundlos, Jonathan Baets, Ingo Kurth

    Publicado em 2014
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  18. 18
    <scp><i>GGPS1</i></scp>‐associated muscular dystrophy with and without hearing loss

    <scp><i>GGPS1</i></scp>‐associated muscular dystrophy with and without hearing loss Por Rauan Kaiyrzhanov, Luke Perry, Clarissa Rocca, Maha S. Zaki, Heba Hosny, Cristiane Araújo Martins Moreno, Rahul Phadke, Irina Zaharieva, Clara Camelo Gontijo, Christian Beetz, Veronica Pini, Mojtaba Movahedinia, Edmar Zanoteli, Stephanie DiTroia, Sandrine Vuillaumier‐Barrot, Arnaud Isapof, Mohammad Yahya Vahidi Mehrjardi, Nasrin Ghasemi, Anna Sárközy, Francesco Muntoni, Sandra Whalen, Barbara Vona, Henry Houlden, Reza Maroofian

    Publicado em 2022
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  19. 19
    CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5

    CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5 Por Cyril Goizet, A. Boukhris, A. Dürr, Christian Beetz, Jérémy Truchetto, Christelle Tesson, Maria K. Tsaousidou, Sylvie Forlani, Lucie Guyant‐Maréchal, B. Fontaine, João Tiago Guimarães, Bertrand Isidor, O. Chazouillères, Dominique Wendum, Djamel Grid, Françoise Chevy, Patrick F. Chinnery, Paula Coutinho, Jean‐Philippe Azulay, Imed Feki, Fanny Mochel, Claude Wolf, Chokri Mhiri, Andrew H. Crosby, Alexis Brice, Giovanni Stévanin

    Publicado em 2009
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  20. 20
    Autosomal dominant mitochondrial membrane protein‐associated neurodegeneration (MPAN)

    Autosomal dominant mitochondrial membrane protein‐associated neurodegeneration (MPAN) Por Allison Gregory, Mitesh Lotia, Suh Young Jeong, Rachel Fox, Dolly Zhen, Lynn Sanford, Jeff Hamada, Amir Jahić, Christian Beetz, Alison Freed, Manju A. Kurian, Thomas Cullup, Marlous C. M. van der Weijden, Vy Nguyen, Naly Setthavongsack, Daphne Garcia, Victoria Krajbich, Thao Pham, Randy Woltjer, Benjamin P. George, Kelly Q. Minks, Alexander Paciorkowski, Penelope Hogarth, Joseph Jankovic, Susan J. Hayflick

    Publicado em 2019
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