Showing 1 - 20 results of 62 for search 'Matthis Synofzik', query time: 0.09s
Refine Results
-
1
Sensorimotor recalibration depends on attribution of sensory prediction errors to internal causes. by Carlo Wilke, Matthis Synofzik, Axel Lindner
Published 2013-01-01
Article -
2
Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay by Parham Habibzadeh, Zahra Tabatabaei, Soroor Inaloo, Muhammad Mahdi Nashatizadeh, Matthis Synofzik, Matthis Synofzik, Vahid Reza Ostovan, Mohammad Ali Faghihi, Mohammad Ali Faghihi
Published 2020-12-01
Article -
3
-
4
-
5
-
6
-
7
Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort by 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
Published 2016-10-01
Article -
8
Case Report: Deep brain stimulation improves tremor in FGF-14 associated spinocerebellar ataxia by 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
Published 2022-12-01
Article -
9
Intracellular Lipid Accumulation and Mitochondrial Dysfunction Accompanies Endoplasmic Reticulum Stress Caused by Loss of the Co-chaperone DNAJC3 by 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
Published 2021-10-01
Article -
10
-
11
-
12
-
13
-
14
Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports by Katja Kloth, Matthis Synofzik, Christoph Kernstock, Simone Schimpf-Linzenbold, Frank Schuettauf, Axel Neu, Bernd Wissinger, Nicole Weisschuh
Published 2019-04-01
Article -
15
Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C? by María-Jesús Sobrido, Peter Bauer, Tom de Koning, Thomas Klopstock, Yann Nadjar, Marc C Patterson, Matthis Synofzik, Chris J Hendriksz
Published 2019-01-01
Article -
16
Effects of Exergaming on Attentional Deficits and Dual-Tasking in Parkinson's Disease by 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
Published 2019-06-01
Article -
17
Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function by Benjamin Röeben, Justus Marquetand, Benjamin Bender, Heiko Billing, Tobias B. Haack, Iciar Sanchez-Albisua, Ludger Schöls, Henk J. Blom, Matthis Synofzik
Published 2017-08-01
Article -
18
P171: Developing an approach to screening rare genetic diagnoses for amenability to bespoke genetic therapy development by David Cheerie, Marlen Lauffer, Danique Beijer, Matthis Synofzik, Annemieke Aartsma-Rus, Michael Szego, Kimberly Amburgey, Brian Kalish, James Dowling, Gregory Costain
Published 2024-01-01
Article -
19
Effects of Cellular Pathway Disturbances on Misfolded Superoxide Dismutase-1 in Fibroblasts Derived from ALS Patients. by Isil Keskin, Elin Forsgren, Dale J Lange, Markus Weber, Anna Birve, Matthis Synofzik, Jonathan D Gilthorpe, Peter M Andersen, Stefan L Marklund
Published 2016-01-01
Article -
20
Item performance of the scale for the assessment and rating of ataxia in rare and ultra‐rare genetic ataxias by Alzahra Hamdan, Andrew C. Hooker, Xiaomei Chen, Andreas Traschütz, Rebecca Schüle, ARCA Study Group, EVIDENCE‐RND consortium, Matthis Synofzik, Mats O. Karlsson
Published 2024-08-01
Article