Resultados da busca - Matthis Synofzik

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

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

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

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

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

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

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Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort por 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

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Case Report: Deep brain stimulation improves tremor in FGF-14 associated spinocerebellar ataxia por 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

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Intracellular Lipid Accumulation and Mitochondrial Dysfunction Accompanies Endoplasmic Reticulum Stress Caused by Loss of the Co-chaperone DNAJC3 por 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

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Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1 por Tobias Bonifert, Irene Gonzalez Menendez, Florian Battke, Yvonne Theurer, Matthis Synofzik, Ludger Schöls, Bernd Wissinger

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

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

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

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

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Digital Motor Outcomes Capture Upper Limb and Mild Stage Impairment in Hereditary Spastic Paraplegia por Malin Schulze, Dominik Hermle, Robin Schubert, Pascal Barallon, Winfried Ilg, Rebecca Schüle, Ralf Reilmann, Matthis Synofzik, Andreas Traschütz

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

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Effects of Exergaming on Attentional Deficits and Dual-Tasking in Parkinson's Disease por 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

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

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

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

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