Hasil Pencarian - Matthis Synofzik

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  1. 1
    Sensorimotor recalibration depends on attribution of sensory prediction errors to internal causes.

    Sensorimotor recalibration depends on attribution of sensory prediction errors to internal causes. oleh Carlo Wilke, Matthis Synofzik, Axel Lindner

    Diterbitkan 2013-01-01
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  2. 2
    Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

    Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay oleh Parham Habibzadeh, Zahra Tabatabaei, Soroor Inaloo, Muhammad Mahdi Nashatizadeh, Matthis Synofzik, Matthis Synofzik, Vahid Reza Ostovan, Mohammad Ali Faghihi, Mohammad Ali Faghihi

    Diterbitkan 2020-12-01
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  3. 3
    Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome)

    Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome) oleh Stefan Hauser, Stefanie Schuster, Yvonne Theurer, Matthis Synofzik, Ludger Schöls

    Diterbitkan 2016-09-01
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  4. 4
    An iPSC model for POLR3A-associated spastic ataxia: Generation of three unrelated patient cell lines

    An iPSC model for POLR3A-associated spastic ataxia: Generation of three unrelated patient cell lines oleh Kalaivani Manibarathi, Tam Pham, Holger Hengel, Matthis Synofzik, Maike Nagel, Rebecca Schüle

    Diterbitkan 2024-04-01
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  5. 5
    Establishment of STUB1/CHIP mutant induced pluripotent stem cells (iPSCs) from a patient with Gordon Holmes syndrome/SCAR16

    Establishment of STUB1/CHIP mutant induced pluripotent stem cells (iPSCs) from a patient with Gordon Holmes syndrome/SCAR16 oleh Stefanie Schuster, Yvonne Schelling, Matthis Synofzik, Philip Höflinger, Ludger Schöls, Stefan Hauser

    Diterbitkan 2018-05-01
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  6. 6
    Home‐based biofeedback speech treatment improves dysarthria in repeat‐expansion SCAs

    Home‐based biofeedback speech treatment improves dysarthria in repeat‐expansion SCAs oleh Adam P. Vogel, Lisa H. Graf, Michelle Magee, Ludger Schöls, Natalie Rommel, Matthis Synofzik

    Diterbitkan 2022-08-01
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  7. 7
    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 oleh Stefanie Krüger, Florian Battke, Andrea Sprecher, Marita Munz, Marita Munz, Matthis Synofzik, Matthis Synofzik, Ludger Schöls, Ludger Schöls, Thomas Gasser, Thomas Gasser, Torsten Grehl, Johannes Prudlo, Johannes Prudlo, Saskia Biskup, Saskia Biskup

    Diterbitkan 2016-10-01
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  8. 8
    Case Report: Deep brain stimulation improves tremor in FGF-14 associated spinocerebellar ataxia

    Case Report: Deep brain stimulation improves tremor in FGF-14 associated spinocerebellar ataxia oleh Moritz A. Loeffler, Moritz A. Loeffler, Matthis Synofzik, Matthis Synofzik, Idil Cebi, Idil Cebi, Philipp Klocke, Philipp Klocke, Mohammad Hormozi, Mohammad Hormozi, Thomas Gasser, Thomas Gasser, Alireza Gharabaghi, Daniel Weiss, Daniel Weiss

    Diterbitkan 2022-12-01
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  9. 9
    Intracellular Lipid Accumulation and Mitochondrial Dysfunction Accompanies Endoplasmic Reticulum Stress Caused by Loss of the Co-chaperone DNAJC3

    Intracellular Lipid Accumulation and Mitochondrial Dysfunction Accompanies Endoplasmic Reticulum Stress Caused by Loss of the Co-chaperone DNAJC3 oleh Matthew J. Jennings, Denisa Hathazi, Denisa Hathazi, Chi D. L. Nguyen, Benjamin Munro, Ute Münchberg, Robert Ahrends, Annette Schenck, Ilse Eidhof, Erik Freier, Matthis Synofzik, Matthis Synofzik, Rita Horvath, Andreas Roos, Andreas Roos

    Diterbitkan 2021-10-01
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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 oleh Tobias Bonifert, Irene Gonzalez Menendez, Florian Battke, Yvonne Theurer, Matthis Synofzik, Ludger Schöls, Bernd Wissinger

    Diterbitkan 2016-01-01
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  11. 11
    Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation

    Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation oleh Dietmar R. Thal, Stephan Züchner, Stephan Gierer, Claudia Schulte, Ludger Schöls, Rebecca Schüle, Matthis Synofzik

    Diterbitkan 2015-10-01
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  12. 12
    Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia

    Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia oleh David Pellerin, Matt C. Danzi, Mathilde Renaud, Henry Houlden, Matthis Synofzik, Stephan Zuchner, Bernard Brais

    Diterbitkan 2024-01-01
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  13. 13
    Absence of EEG correlates of self-referential processing depth in ALS.

    Absence of EEG correlates of self-referential processing depth in ALS. oleh Tatiana Fomina, Sebastian Weichwald, Matthis Synofzik, Jenifer Just, Ludger Schöls, Bernhard Schölkopf, Moritz Grosse-Wentrup

    Diterbitkan 2017-01-01
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  14. 14
    Multifeature quantitative motor assessment of upper limb ataxia including drawing and reaching

    Multifeature quantitative motor assessment of upper limb ataxia including drawing and reaching oleh Dominik Hermle, Robin Schubert, Pascal Barallon, Winfried Ilg, Rebecca Schüle, Ralf Reilmann, Matthis Synofzik, Andreas Traschütz

    Diterbitkan 2024-05-01
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  15. 15
    Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports

    Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports oleh Katja Kloth, Matthis Synofzik, Christoph Kernstock, Simone Schimpf-Linzenbold, Frank Schuettauf, Axel Neu, Bernd Wissinger, Nicole Weisschuh

    Diterbitkan 2019-04-01
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  16. 16
    Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

    Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C? oleh María-Jesús Sobrido, Peter Bauer, Tom de Koning, Thomas Klopstock, Yann Nadjar, Marc C Patterson, Matthis Synofzik, Chris J Hendriksz

    Diterbitkan 2019-01-01
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  17. 17
    Effects of Exergaming on Attentional Deficits and Dual-Tasking in Parkinson's Disease

    Effects of Exergaming on Attentional Deficits and Dual-Tasking in Parkinson's Disease oleh Eva Schaeffer, Jan-Hinrich Busch, Benjamin Roeben, Sascha Otterbein, Pavel Saraykin, Edyta Leks, Inga Liepelt-Scarfone, Inga Liepelt-Scarfone, Matthis Synofzik, Matthis Synofzik, Morad Elshehabi, Morad Elshehabi, Morad Elshehabi, Walter Maetzler, Walter Maetzler, Walter Maetzler, Clint Hansen, Sarah Andris, Daniela Berg, Daniela Berg, Daniela Berg

    Diterbitkan 2019-06-01
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  18. 18
    Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function

    Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function oleh Benjamin Röeben, Justus Marquetand, Benjamin Bender, Heiko Billing, Tobias B. Haack, Iciar Sanchez-Albisua, Ludger Schöls, Henk J. Blom, Matthis Synofzik

    Diterbitkan 2017-08-01
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  19. 19
    P171: Developing an approach to screening rare genetic diagnoses for amenability to bespoke genetic therapy development

    P171: Developing an approach to screening rare genetic diagnoses for amenability to bespoke genetic therapy development oleh David Cheerie, Marlen Lauffer, Danique Beijer, Matthis Synofzik, Annemieke Aartsma-Rus, Michael Szego, Kimberly Amburgey, Brian Kalish, James Dowling, Gregory Costain

    Diterbitkan 2024-01-01
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  20. 20
    Effects of Cellular Pathway Disturbances on Misfolded Superoxide Dismutase-1 in Fibroblasts Derived from ALS Patients.

    Effects of Cellular Pathway Disturbances on Misfolded Superoxide Dismutase-1 in Fibroblasts Derived from ALS Patients. oleh Isil Keskin, Elin Forsgren, Dale J Lange, Markus Weber, Anna Birve, Matthis Synofzik, Jonathan D Gilthorpe, Peter M Andersen, Stefan L Marklund

    Diterbitkan 2016-01-01
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