Suchergebnisse - Matthis Synofzik

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext

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

Volltext