Editorial: Networks in Movement Disorders. To Move or Not to Move

por Graessner, Holm, Albanese, Alberto, Schöls, Ludger
Publicado 2021

Towards Personalized Allele-Specific Antisense Oligonucleotide Therapies for Toxic Gain-of-Function Neurodegenerative Diseases

por Helm, Jacob, Schöls, Ludger, Hauser, Stefan
Publicado 2022

Chromium and cobalt intoxication mimicking mitochondriopathy

por Rattay, Tim W., Kluba, Torsten, Schöls, Ludger
Publicado 2021

Axonal transport deficit in a KIF5A(–/–) mouse model

por Karle, Kathrin N., Möckel, Diana, Reid, Evan, Schöls, Ludger
Publicado 2012

Retinal nerve fibre layer loss in hereditary spastic paraplegias is restricted to complex phenotypes

por Wiethoff, Sarah, Zhour, Ahmad, Schöls, Ludger, Fischer, Manuel Dominik
Publicado 2012

Chitotriosidase is a biomarker for adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia

por Hayer, Stefanie N., Santhanakumaran, Vidiyaah, Böhringer, Judith, Schöls, Ludger
Publicado 2022

Sanfilippo type A: new clinical manifestations and neuro-imaging findings in patients from the same family in Israel: a case report

por Sharkia, Rajech, Mahajnah, Muhammad, Zalan, Abdelnaser, Sourlis, Chrysovalantis, Bauer, Peter, Schöls, Ludger
Publicado 2014

Parental mosaicism in another case of Dravet syndrome caused by a novel SCN1A deletion: a case report

por Sharkia, Rajech, Hengel, Holger, Schöls, Ludger, Athamna, Muhammad, Bauer, Peter, Mahajnah, Muhammad
Publicado 2016

Allele-specific targeting of mutant ataxin-3 by antisense oligonucleotides in SCA3-iPSC-derived neurons

por Hauser, Stefan, Helm, Jacob, Kraft, Melanie, Korneck, Milena, Hübener-Schmid, Jeannette, Schöls, Ludger
Publicado 2021

Supracubital perineurioma misdiagnosed as carpal tunnel syndrome: case report

por Saft, Carsten, Andrich, Juergen E, Neuen-Jacob, Eva, Schmid, Gebhard, Schols, Ludger, Amoiridis, Georgios
Publicado 2004

Home‐based biofeedback speech treatment improves dysarthria in repeat‐expansion SCAs

por Vogel, Adam P., Graf, Lisa H., Magee, Michelle, Schöls, Ludger, Rommel, Natalie, Synofzik, Matthis
Publicado 2022

Short-read genome sequencing allows ‘en route’ diagnosis of patients with atypical Friedreich ataxia

por Fleszar, Zofia, Dufke, Claudia, Sturm, Marc, Schüle, Rebecca, Schöls, Ludger, Haack, Tobias B., Synofzik, Matthis
Publicado 2023

Dysfunctional neuro-muscular mechanisms explain gradual gait changes in prodromal spastic paraplegia

por Lassmann, Christian, Ilg, Winfried, Rattay, Tim W., Schöls, Ludger, Giese, Martin, Haeufle, Daniel F. B.
Publicado 2023

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

por Thal, Dietmar R., Züchner, Stephan, Gierer, Stephan, Schulte, Claudia, Schöls, Ludger, Schüle, Rebecca, Synofzik, Matthis
Publicado 2015

Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1

por Bonifert, Tobias, Gonzalez Menendez, Irene, Battke, Florian, Theurer, Yvonne, Synofzik, Matthis, Schöls, Ludger, Wissinger, Bernd
Publicado 2016

Absence of EEG correlates of self-referential processing depth in ALS

por Fomina, Tatiana, Weichwald, Sebastian, Synofzik, Matthis, Just, Jenifer, Schöls, Ludger, Schölkopf, Bernhard, Grosse-Wentrup, Moritz
Publicado 2017

NfL and pNfH are increased in Friedreich’s ataxia

por Hayer, Stefanie Nicole, Liepelt, Inga, Barro, Christian, Wilke, Carlo, Kuhle, Jens, Martus, Peter, Schöls, Ludger
Publicado 2020

Effective splicing restoration of a deep-intronic ABCA4 variant in cone photoreceptor precursor cells by CRISPR/SpCas9 approaches

por De Angeli, Pietro, Reuter, Peggy, Hauser, Stefan, Schöls, Ludger, Stingl, Katarina, Wissinger, Bernd, Kohl, Susanne
Publicado 2022

Proof of principle for the clinical use of a CE-certified automatic imaging analysis tool in rare diseases studying hereditary spastic paraplegia type 4 (SPG4)

por Lindig, Tobias, Bender, Benjamin, Bürkle, Eva, Kumar, Vinod, Ernemann, Ulrike, Schöls, Ludger, Rattay, Tim W.
Publicado 2022

Hepatic mitochondrial dysfunction in Friedreich Ataxia

por Stüwe, Sven H, Goetze, Oliver, Arning, Larissa, Banasch, Matthias, Schmidt, Wolfgang E, Schöls, Ludger, Saft, Carsten
Publicado 2011