Bibliotecas PUC-SP - Busca Integrada

Motor Training in Degenerative Spinocerebellar Disease: Ataxia-Specific Improvements by Intensive Physiotherapy and Exergames

von Matthis Synofzik, Winfried Ilg
Veröffentlicht 2014-01-01

Electrodes in the brain—Ethical criteria for research and treatment with deep brain stimulation for neuropsychiatric disorders

von Matthis Synofzik, Thomas E. Schlaepfer
Veröffentlicht in Brain Stimulation (2011-01-01)

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

von Carlo Wilke, Matthis Synofzik, Axel Lindner
Veröffentlicht in PLoS ONE (2013-01-01)

A neuromodulation experience registry for deep brain stimulation studies in psychiatric research: Rationale and recommendations for implementation

von Matthis Synofzik, Joseph J. Fins, Thomas E. Schlaepfer
Veröffentlicht in Brain Stimulation (2012-10-01)

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
Veröffentlicht in Frontiers in Genetics (2020-12-01)

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
Veröffentlicht in Stem Cell Research (2016-09-01)

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
Veröffentlicht in Stem Cell Research (2024-04-01)

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
Veröffentlicht in Stem Cell Research (2018-05-01)

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
Veröffentlicht in Annals of Clinical and Translational Neurology (2022-08-01)

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
Veröffentlicht in Frontiers in Neurology (2022-12-01)

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
Veröffentlicht in Frontiers in Molecular Neuroscience (2016-10-01)

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
Veröffentlicht in Frontiers in Cell and Developmental Biology (2021-10-01)

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

von Dietmar R. Thal, Stephan Züchner, Stephan Gierer, Claudia Schulte, Ludger Schöls, Rebecca Schüle, Matthis Synofzik
Veröffentlicht in International Journal of Molecular Sciences (2015-10-01)

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
Veröffentlicht in Clinical and Translational Medicine (2024-01-01)

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
Veröffentlicht in PLoS ONE (2017-01-01)

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
Veröffentlicht in Molecular Therapy: Nucleic Acids (2016-01-01)

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
Veröffentlicht in Annals of Clinical and Translational Neurology (2024-05-01)

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
Veröffentlicht in BMC Medical Genetics (2019-04-01)

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
Veröffentlicht in Orphanet Journal of Rare Diseases (2019-01-01)

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
Veröffentlicht in Frontiers in Neurology (2019-06-01)