Resultats de la cerca - Lüdger Schöls

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  1. 1
    Friedreich's ataxia. Revision of the phenotype according to molecular genetics

    Friedreich's ataxia. Revision of the phenotype according to molecular genetics per Lüdger Schöls

    Publicat 1997
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  2. 2
    Towards Personalized Allele-Specific Antisense Oligonucleotide Therapies for Toxic Gain-of-Function Neurodegenerative Diseases

    Towards Personalized Allele-Specific Antisense Oligonucleotide Therapies for Toxic Gain-of-Function Neurodegenerative Diseases per Jacob Helm, Lüdger Schöls, Stefan Hauser

    Publicat 2022
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  3. 3
    Autosomal Recessive Cerebellar Ataxias: Paving the Way toward Targeted Molecular Therapies

    Autosomal Recessive Cerebellar Ataxias: Paving the Way toward Targeted Molecular Therapies per Matthis Synofzik, Hélène Puccio, Fanny Mochel, Lüdger Schöls

    Publicat 2019
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  4. 4
    Axonal transport deficit in a KIF5A –/– mouse model

    Axonal transport deficit in a KIF5A –/– mouse model per Kathrin N. Karle, Diana Möckel, Evan Reid, Lüdger Schöls

    Publicat 2012
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  5. 5
    Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation.

    Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation. per Lüdger Schöls, G. Amoiridis, Jörg T. Epplen, M Langkafel, H. Przuntek, Olaf Rieß

    Publicat 1996
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  6. 6
    Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds

    Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds per Lüdger Schöls, Rejko Krüger, G. Amoiridis, H. Przuntek, Jörg T. Epplen, O. Riess

    Publicat 1998
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  7. 7
    Quantitative Assessment of Brain Stem and Cerebellar Atrophy in Spinocerebellar Ataxia Types 3 and 6: Impact on Clinical Status

    Quantitative Assessment of Brain Stem and Cerebellar Atrophy in Spinocerebellar Ataxia Types 3 and 6: Impact on Clinical Status per Lars Eichler, Barbara Bellenberg, Horst K. Hahn, O. Köster, Lüdger Schöls, Carsten Lukas

    Publicat 2011
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  8. 8
    Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity

    Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity per Bettina Ebbing, Klaudiusz Mann, Agata L. Starosta, Johann Jaud, Lüdger Schöls, Rebecca Schüle, Günther Woehlke

    Publicat 2008
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  9. 9
    Motor cortex activation by transcranial magnetic stimulation in ataxia patients depends on the genetic defect

    Motor cortex activation by transcranial magnetic stimulation in ataxia patients depends on the genetic defect per Peter Schwenkreis, Martin Tegenthoff, Katja Witscher, Christian Börnke, H. Przuntek, J.-P. Malin, Lüdger Schöls

    Publicat 2002
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  10. 10
    Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1

    Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1 per Tobias Bonifert, Irene González-Menéndez, Florian Battke, Yvonne Theurer, Matthis Synofzik, Lüdger Schöls, Bernd Wissinger

    Publicat 2016
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  11. 11
    Fampridine and Acetazolamide in EA2 and Related Familial EA

    Fampridine and Acetazolamide in EA2 and Related Familial EA per Carolin Muth, Julian Teufel, Lüdger Schöls, Matthis Synofzik, Christiana Franke, Dagmar Timmann, Ulrich Mansmann, Michael Strupp

    Publicat 2020
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  12. 12
    Cerebellar pathology in Friedreich's ataxia: Atrophied dentate nuclei with normal iron content

    Cerebellar pathology in Friedreich's ataxia: Atrophied dentate nuclei with normal iron content per K. Solbach, Oliver Kraff, Martina Minnerop, Andreas Beck, Lüdger Schöls, Elke R. Gizewski, Mark E. Ladd, Dagmar Timmann

    Publicat 2014
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  13. 13
    The aetiology of sporadic adult‐onset ataxia

    The aetiology of sporadic adult‐onset ataxia per Michael Abele, Katrin Bürk, Lüdger Schöls, Simó Schwartz, I. Besenthal, J. Dichgans, Christine Zühlke, Olaf Rieß, Thomas Klockgether

    Publicat 2002
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  14. 14
    As Frequent as Polyglutamine Spinocerebellar Ataxias: <scp>SCA27B</scp> in a Large German Autosomal Dominant Ataxia Cohort

    As Frequent as Polyglutamine Spinocerebellar Ataxias: <scp>SCA27B</scp> in a Large German Autosomal Dominant Ataxia Cohort per Holger Hengel, David Pellerin, Carlo Wilke, Zofia Fleszar, Bernard Brais, Tobias B. Haack, Andreas Traschütz, Lüdger Schöls, Matthis Synofzik

    Publicat 2023
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  15. 15
    Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort

    Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort per Stefanie Krüger, Florian Battke, Andrea Sprecher, Marita Munz, Matthis Synofzik, Lüdger Schöls, Thomas Gasser, Torsten Grehl, Johannes Prudlo, Saskia Biskup

    Publicat 2016
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  16. 16
    Involvement of the cerebellum in Parkinson disease and dementia with Lewy bodies

    Involvement of the cerebellum in Parkinson disease and dementia with Lewy bodies per Kay Seidel, Mohamed Bouzrou, Nina Heidemann, Rejko Krüger, Lüdger Schöls, Wilfred F.A. den Dunnen, Horst‐Werner Korf, Udo Rüb

    Publicat 2017
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  17. 17
    Real‐Life Turning Movements Capture Subtle Longitudinal and Preataxic Changes in Cerebellar Ataxia

    Real‐Life Turning Movements Capture Subtle Longitudinal and Preataxic Changes in Cerebellar Ataxia per Annika Thierfelder, Jens Seemann, Natalie John, Florian Harmuth, Martin A. Giese, Rebecca Schüle, Lüdger Schöls, Dagmar Timmann, Matthis Synofzik, Winfried Ilg

    Publicat 2022
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  18. 18
    Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis

    Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis per Rebecca Schüle, Teepu Siddique, Han‐Xiang Deng, Yi Yang, Sandra Donkervoort, Magnus Hansson, R. E. Madrid, Nailah Siddique, Lüdger Schöls, Ingemar Björkhem

    Publicat 2009
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  19. 19
    Side Chain-oxidized Oxysterols Regulate the Brain Renin-Angiotensin System through a Liver X Receptor-dependent Mechanism

    Side Chain-oxidized Oxysterols Regulate the Brain Renin-Angiotensin System through a Liver X Receptor-dependent Mechanism per Laura Mateos, Muhammad-Al-Mustafa Ismail, Francisco J. Gil‐Bea, Rebecca Schüle, Lüdger Schöls, Maura Heverin, Ronnie Folkesson, Ingemar Björkhem, Ángel Cedazo-Mı́nguez

    Publicat 2011
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  20. 20
    Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54)

    Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54) per Michael Gonzalez, Sheela Nampoothiri, Cornelia Kornblum, Andrés Caballero-Oteyza, Jochen Walter, Ioanna Konidari, William Hulme, Fiorella Speziani, Lüdger Schöls, Stephan Züchner, Rebecca Schüle

    Publicat 2013
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