检索结果 - Arndt Rolfs

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  1. 1
    Idiopathic Small Fiber Neuropathy: Phenotype, Etiologies, and the Search for Fabry Disease

    Idiopathic Small Fiber Neuropathy: Phenotype, Etiologies, and the Search for Fabry Disease 由 Kristin Samuelsson, Konstantinos Kostulas, Magnus Vrethem, Arndt Rolfs, Rayomand Press

    出版 2014
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  2. 2
    Contribution of Established Stroke Risk Factors to the Burden of Stroke in Young Adults

    Contribution of Established Stroke Risk Factors to the Burden of Stroke in Young Adults 由 Annette Aigner, Ulrike Grittner, Arndt Rolfs, Bo Norrving, Bob Siegerink, Markus Busch

    出版 2017
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  3. 3
    A comprehensive global genotype–phenotype database for rare diseases

    A comprehensive global genotype–phenotype database for rare diseases 由 Daniel Trujillano, Gabriela Oprea, Yvonne Schmitz, Aida M. Bertoli‐Avella, Rami Abou Jamra, Arndt Rolfs

    出版 2016
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  4. 4
    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 由 Sofia Steinrücke, Katja Lohmann, Aloysius Domingo, Arndt Rolfs, Tobias Bäumer, Juliane Spiegler, Corinna Hartmann, Alexander Münchau

    出版 2016
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  5. 5
    Sidransky Syndrome—GBA1-Related Parkinson’s Disease and Its Targeted Therapies

    Sidransky Syndrome—GBA1-Related Parkinson’s Disease and Its Targeted Therapies 由 Majdolen Istaiti, Gilad Yahalom, Mikhal Cohen, Volha Skrahina, Aliaksandr Skrahin, Jan Lukáš, Arndt Rolfs, Ari Zimran

    出版 2025
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  6. 6
    Multifocal White Matter Lesions Associated with the D313Y Mutation of the α-Galactosidase A Gene

    Multifocal White Matter Lesions Associated with the D313Y Mutation of the α-Galactosidase A Gene 由 Malte Lenders, Thomas Duning, Michael Schelleckes, Boris Schmitz, Sonja Ständer, Arndt Rolfs, Stefan‐Martin Brand, Eva Brand

    出版 2013
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  7. 7
    Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease

    Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease 由 Markus Niemann, Arndt Rolfs, Anne‐Katrin Giese, Hermann Mascher, Frank Breunig, Georg Ertl, Christoph Wanner, Frank Weidemann

    出版 2012
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  8. 8
    Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease

    Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease 由 Jan Lukáš, Simone Scalia, Sabrina Eichler, Anne-Marie Pockrandt, Nicole Dehn, Claudia Cozma, Anne‐Katrin Giese, Arndt Rolfs

    出版 2015
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  9. 9
    Gene Mutations Versus Clinically Relevant Phenotypes

    Gene Mutations Versus Clinically Relevant Phenotypes 由 Markus Niemann, Arndt Rolfs, Stefan Störk, Bart Bijnens, Frank Breunig, Meinrad Beer, Georg Ertl, Christoph Wanner, Frank Weidemann

    出版 2014
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  10. 10
    Investigating function and connectivity of morphometric findings — Exemplified on cerebellar atrophy in spinocerebellar ataxia 17 (SCA17)

    Investigating function and connectivity of morphometric findings — Exemplified on cerebellar atrophy in spinocerebellar ataxia 17 (SCA17) 由 Kathrin Reetz, Imis Dogan, Arndt Rolfs, Ferdinand Binkofski, Jörg B. Schulz, Angela R. Laird, Peter T. Fox, Simon B. Eickhoff

    出版 2012
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  11. 11
    Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders

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

    出版 2019
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  12. 12
    Fabry Disease – Underestimated in the Differential Diagnosis of Multiple Sclerosis?

    Fabry Disease – Underestimated in the Differential Diagnosis of Multiple Sclerosis? 由 Tobias Böttcher, Arndt Rolfs, Christian Tanislav, Andreas Bitsch, Wolfgang Köhler, Jens Gaedeke, Anne‐Katrin Giese, Edwin H. Kolodny, Thomas Duning

    出版 2013
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  13. 13
    Effect of 3D-scaffold formation on differentiation and survival in human neural progenitor cells

    Effect of 3D-scaffold formation on differentiation and survival in human neural progenitor cells 由 Stefanie Ortinau, Jürgen Schmich, Stephan Block, Andrea Liedmann, Ludwig Jonas, Dieter G. Weiss, Christiane A. Helm, Arndt Rolfs, Moritz J. Frech

    出版 2010
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  14. 14
    Next-Generation Sequencing of the BRCA1 and BRCA2 Genes for the Genetic Diagnostics of Hereditary Breast and/or Ovarian Cancer

    Next-Generation Sequencing of the BRCA1 and BRCA2 Genes for the Genetic Diagnostics of Hereditary Breast and/or Ovarian Cancer 由 Daniel Trujillano, Maximilian E. R. Weiss, J Schneider, Julia Köster, Efstathios B. Papachristos, Viatcheslav Saviouk, Tetyana Zakharkina, Nahid Nahavandi, Lejla Kovačević, Arndt Rolfs

    出版 2014
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  15. 15
    Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease

    Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease 由 Noa Hurvitz, Tama Dinur, Michal Becker‐Cohen, Claudia Cozma, Marina Hovakimyan, Sebastian Oppermann, Laura Demuth, Arndt Rolfs, Aya Abramov, Ari Zimran, Shoshana Revel‐Vilk

    出版 2019
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  16. 16
    Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease

    Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease 由 Jan Lukáš, Anne‐Katrin Giese, Arseni Markoff, Ulrike Grittner, E. H. Kolodny, Hermann Mascher, Karl J. Lackner, Wolfgang Meyer, Phillip Wree, Viatcheslav Saviouk, Arndt Rolfs

    出版 2013
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  17. 17
    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? 由 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

    出版 2022
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  18. 18
    A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease

    A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease 由 Anne‐Katrin Giese, Hermann Mascher, Ulrike Grittner, Sabrina Eichler, Guido Kramp, Jan Lukáš, Daniëlle te Vruchte, Nada Al Eisa, Mario Cortina‐Borja, Forbes D. Porter, Frances M. Platt, Arndt Rolfs

    出版 2015
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  19. 19
    Novel clinical and genetic insight into CXorf56-associated intellectual disability

    Novel clinical and genetic insight into CXorf56-associated intellectual disability 由 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

    出版 2019
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  20. 20
    Glucosylsphingosine Is a Highly Sensitive and Specific Biomarker for Primary Diagnostic and Follow-Up Monitoring in Gaucher Disease in a Non-Jewish, Caucasian Cohort of Gaucher Disease Patients

    Glucosylsphingosine Is a Highly Sensitive and Specific Biomarker for Primary Diagnostic and Follow-Up Monitoring in Gaucher Disease in a Non-Jewish, Caucasian Cohort of Gaucher Dis... 由 Arndt Rolfs, Anne‐Katrin Giese, Ulrike Grittner, Daniel Mascher, Deborah Elstein, Ari Zimran, Tobias Böttcher, Jan Lukáš, Rayk Hübner, Uta Gölnitz, Anja Röhle, Aleš Dudešek, Wolfgang Meyer, Matthias Wittstock, Hermann Mascher

    出版 2013
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