Anzahl der Publikationen: 34
Zeitschriftenartikel
Dinkel, Lina ORCID: https://orcid.org/0000-0002-5380-3152; Hummel, Selina ORCID: https://orcid.org/0009-0001-2902-6082; Zenatti, Valerio ORCID: https://orcid.org/0009-0007-2127-6267; Malara, Mariagiovanna ORCID: https://orcid.org/0000-0001-6417-9685; Tillmann, Yannik; Colombo, Alessio; Monasor, Laura Sebastian ORCID: https://orcid.org/0000-0001-7864-7400; Suh, Jung H. ORCID: https://orcid.org/0000-0001-8119-326X; Logan, Todd ORCID: https://orcid.org/0000-0003-2081-782X; Roth, Stefan ORCID: https://orcid.org/0000-0001-6823-2981; Paeger, Lars ORCID: https://orcid.org/0000-0001-8716-3483; Hoffelner, Patricia ORCID: https://orcid.org/0009-0009-9728-8162; Bludau, Oliver ORCID: https://orcid.org/0009-0005-9426-0325; Schmidt, Andree ORCID: https://orcid.org/0000-0002-8254-0777; Müller, Stephan A. ORCID: https://orcid.org/0000-0003-3414-307X; Schifferer, Martina ORCID: https://orcid.org/0000-0002-0500-8218; Nuscher, Brigitte; Njavro, Jasenka Rudan; Prestel, Matthias; Bartos, Laura M. ORCID: https://orcid.org/0009-0007-6158-319X; Wind-Mark, Karin ORCID: https://orcid.org/0000-0002-5461-1873; Slemann, Luna; Hoermann, Leonie ORCID: https://orcid.org/0009-0006-9074-3474; Kunte, Sebastian T. ORCID: https://orcid.org/0009-0007-3543-5329; Gnörich, Johannes ORCID: https://orcid.org/0000-0003-1554-7765; Lindner, Simon ORCID: https://orcid.org/0009-0007-4379-4436; Simons, Mikael; Herms, Jochen; Paquet, Dominik ORCID: https://orcid.org/0000-0003-2065-1639; Lichtenthaler, Stefan F. ORCID: https://orcid.org/0000-0003-2211-2575; Bartenstein, Peter ORCID: https://orcid.org/0009-0005-0734-4994; Franzmeier, Nicolai ORCID: https://orcid.org/0000-0001-9736-2283; Liesz, Arthur ORCID: https://orcid.org/0000-0002-9069-2594; Grosche, Antje ORCID: https://orcid.org/0000-0003-0338-7530; Bremova-Ertl, Tatiana ORCID: https://orcid.org/0000-0002-7397-045X; Catarino, Claudia ORCID: https://orcid.org/0000-0002-6528-7570; Beblo, Skadi; Bergner, Caroline; Schneider, Susanne A.; Strupp, Michael ORCID: https://orcid.org/0000-0002-9544-2279; Di Paolo, Gilbert ORCID: https://orcid.org/0000-0003-1032-1265; Brendel, Matthias ORCID: https://orcid.org/0000-0002-9247-2843 und Tahirovic, Sabina ORCID: https://orcid.org/0000-0003-4403-9559
(2024):
Myeloid cell–specific loss of NPC1 in mice recapitulates microgliosis and neurodegeneration in patients with Niemann-Pick type C disease.
In: Science Translational Medicine, Bd. 16, Nr. 776, eadl4616
Iankova, Vassilena; Sparber, Peter; Rohani, Mohammad; Dusek, Petr; Buechner, Boriana; Karin, Ivan; Schneider, Susanne A.; Gorriz, Juan M.; Kmiec, Tomasz und Klopstock, Thomas
(2024):
Phenotype and natural history of mitochondrial membrane protein-associated neurodegeneration.
In: Brain, Bd. 147, Nr. 4: S. 1389-1398
Schneider, Susanne A. ORCID: https://orcid.org/0000-0001-7283-1995; Desai, Soaham; Phokaewvarangkul, Onanong; Rosca, Elena Cecilia; Sringean, Jirada; Anand, Pria; Bravo, Gary Álvarez; Cardoso, Francisco; Cervantes-Arslanian, Anna M.; Chovatiya, Harshad; Crosiers, David; Dijkstra, Femke; Fearon, Conor; Grandas, Francisco; Guedj, Eric; Méndez-Guerrero, Antonio; Hassan, Muhammad; Jankovic, Joseph; Lang, Anthony E.; Makhoul, Karim; Muccioli, Lorenzo; O’Shea, Sarah A.; Ostovan, Vahid Reza; Perez-Sanchez, Javier Ricardo; Ramdhani, Ritesh; Ros-Castelló, Victoria; Schulte, Christina; Shah, Priyank; Wojtecki, Lars und Pal, Pramod Kumar
(2023):
COVID19-associated new-onset movement disorders: a follow-up study.
In: Journal of Neurology, Bd. 270, Nr. 5: S. 2409-2415
[PDF, 711kB]
Majovska, Jitka; Hennig, Anita; Nestrasil, Igor; Schneider, Susanne A.; Jahnova, Helena; Vaneckova, Manuela; Magner, Martin und Dusek, Petr
(2021):
Pontocerebellar atrophy is the hallmark neuroradiological finding in late-onset Tay-Sachs disease.
In: Neurological Sciences, Bd. 43, Nr. 5: S. 3273-3281
Bremova-Ertl, Tatiana; Claassen, Jens; Foltan, Tomas; Gascon-Bayarri, Jordi; Gissen, Paul; Hahn, Andreas; Hassan, Anhar; Hennig, Anita; Jones, Simon A.; Kolnikova, Miriam; Martakis, Kyriakos; Raethjen, Jan; Ramaswami, Uma; Sharma, Reena und Schneider, Susanne A.
(2021):
Efficacy and safety of N-acetyl-l-leucine in Niemann-Pick disease type C.
In: Journal of Neurology, Bd. 269, Nr. 3: S. 1651-1662
Colombo, Alessio; Dinkel, Lina; Mueller, Stephan A.; Monasor, Laura Sebastian; Schifferer, Martina; Cantuti-Castelvetri, Ludovico; Koenig, Jasmin; Vidatic, Lea; Bremova-Ertl, Tatiana; Lieberman, Andrew P.; Hecimovic, Silva; Simons, Mikael; Lichtenthaler, Stefan F.; Strupp, Michael; Schneider, Susanne A. und Tahirovic, Sabina
(2021):
Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia.
In: Nature Communications, Bd. 12, Nr. 1, 1158
[PDF, 7MB]
Magrinelli, Francesca; Mehta, Sahil; Di Lazzaro, Giulia; Latorre, Anna; Edwards, Mark J.; Balint, Bettina; Basu, Purba; Kobylecki, Christopher; Groppa, Sergiu; Hegde, Anaita; Mulroy, Eoin; Estevez-Fraga, Carlos; Arora, Anshita; Kumar, Hrishikesh; Schneider, Susanne A.; Lewis, Patrick A.; Jaunmuktane, Zane; Revesz, Tamas; Gandhi, Sonia; Wood, Nicholas W.; Hardy, John A.; Tinazzi, Michele; Lal, Vivek; Houlden, Henry und Bhatia, Kailash P.
(2021):
Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism.
In: Movement Disorders, Bd. 37, Nr. 1: S. 148-161
Zech, Michael; Jech, Robert; Boesch, Sylvia; Skorvanek, Matej; Necpal, Jan; Svantnerova, Jana; Wagner, Matias; Sadr-Nabavi, Ariane; Distelmaier, Felix; Krenn, Martin; Serranova, Tereza; Rektorova, Irena; Havrankova, Petra; Mosejova, Alexandra; Prihodova, Iva; Sarlakova, Jana; Kulcsarova, Kristina; Ulmanova, Olga; Bechyne, Karel; Ostrozovicova, Miriam; Han, Vladimir; Ventosa, Joaquim Ribeiro; Brunet, Theresa; Berutti, Riccardo; Shariati, Mohammad; Shoeibi, Ali; Schneider, Susanne A.; Kuster, Alice; Baumann, Matthias; Weise, David; Wilbert, Friederike; Janzarik, Wibke G.; Eckenweiler, Matthias; Mall, Volker; Haslinger, Bernhard; Berweck, Steffen; Winkelmann, Juliane und Oexle, Konrad
(2021):
Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study.
In: Movement Disorders, Bd. 36, Nr. 8: S. 1959-1964
[PDF, 488kB]
Dusek, Petr; Mekle, Ralf; Skowronska, Marta; Acosta‐Cabronero, Julio; Huelnhagen, Till; Robinson, Simon Daniel; Schubert, Florian; Deschauer, Marcus; Els, Antje; Ittermann, Bernd; Schottmann, Gudrun; Madai, Vince I.; Paul, Friedemann; Klopstock, Thomas; Kmiec, Tomasz; Niendorf, Thoralf; Wuerfel, Jens und Schneider, Susanne A.
(2020):
Brain Iron and Metabolic Abnormalities in C19orf12 Mutation Carriers: A 7.0 Tesla MRI Study in Mitochondrial Membrane Protein–Associated Neurodegeneration.
In: Movement Disorders, Bd. 35, Nr. 1: S. 142-150
[PDF, 903kB]
Henke, Christine; Töllner, Kathrin; Dijk, R. Maarten van; Miljanovic, Nina; Cordes, Thekla; Twele, Friederike; Bröer, Sonja; Ziesak, Vanessa; Rohde, Marco; Hauck, Stefanie M.; Vogel, Charlotte; Welzel, Lisa; Schumann, Tina; Willmes, Diana M.; Kurzbach, Anica; El-Agroudy, Nermeen N.; Bornstein, Stefan R.; Schneider, Susanne A.; Jordan, Jens; Potschka, Heidrun; Metallo, Christian M.; Köhling, Rüdiger; Birkenfeld, Andreas L. und Löscher, Wolfgang
(2020):
Disruption of the sodium-dependent citrate transporter SLC13A5 in mice causes alterations in brain citrate levels and neuronal network excitability in the hippocampus.
In: Neurobiology of Disease, Bd. 143, 105018
Bremova-Ertl, Tatiana; Sztatecsny, Clara; Brendel, Matthias; Moser, Marlene; Moeller, Bettina; Clevert, Dirk A.; Beck-Woedl, Stefanie; Kun-Rodrigues, Celia; Bras, Jose; Rominger, Axel; Ninov, Dimitar; Strupp, Michael und Schneider, Susanne A.
(2020):
Clinical, ocular motor, and imaging profile of Niemann-Pick type C heterozygosity.
In: Neurology, Bd. 94, Nr. 16, E1702-E1715
Schneider, Susanne A.; Beckinger, Viktoria E.; Moeller, Bettina; Knuepfer, Stephanie; Hamann, Moritz und Deuschl, Guenther
(2019):
Urinary symptoms, quality of life, and patient satisfaction in genetic and sporadic hereditary spastic paraplegia.
In: Journal of Neurology, Bd. 266, Nr. 1: S. 207-211
Giesselmann, Pay; Braendl, Bjorn; Raimondeau, Etienne; Bowen, Rebecca; Rohrandt, Christian; Tandon, Rashmi; Kretzmer, Helene; Assum, Gunter; Galonska, Christina; Siebert, Reiner; Ammerpohl, Ole; Heron, Andrew; Schneider, Susanne A.; Ladewig, Julia; Koch, Philipp; Schuldt, Bernhard M.; Graham, James E.; Meissner, Alexander und Müller, Franz-Josef
(2019):
Analysis of short tandem repeat expansions and their methylation state with nanopore sequencing.
In: Nature Biotechnology, Bd. 37, Nr. 12
Dusek, Petr; Skoloudik, David; Maskova, Jana; Huelnhagen, Till; Bruha, Radan; Zahorakova, Daniela; Niendorf, Thoralf; Ruzicka, Evzen; Schneider, Susanne A. und Wuerfel, Jens
(2018):
Brain iron accumulation in Wilson's disease: A longitudinal imaging case study during anticopper treatment using 7.0T MRI and transcranial sonography.
In: Journal of Magnetic Resonance Imaging, Bd. 47, Nr. 1: S. 282-285
Lim, Shen-Yang; Tan, Ai Huey; Ahmad-Annuar, Azlina; Schneider, Susanne A.; Bee, Ping Chong; Lim, Jia Lun; Ramli, Norlisah und Idris, Mohamad Imran
(2018):
A Patient with Beta-Propeller Protein-Associated Neurodegeneration: Treatment with Iron Chelation Therapy.
In: Journal of Movement Disorders, Bd. 11, Nr. 2: S. 89-92
[PDF, 820kB]
Klettner, Alexa; Tholey, Andreas; Wiegandt, Alena; Richert, Elisabeth; Nölle, Bernhard; Deuschl, Guenther; Roider, Johann und Schneider, Susanne A.
(2017):
Reduction of GAPDH in Lenses of Parkinson's Disease Patients: A Possible New Biomarker.
In: Movement Disorders, Bd. 32, Nr. 3: S. 459-462
Franzen, Klaas; Fliegen, Sabine; Köster, Jelena; Martin, Rafael Campos; Deuschl, Günther; Reppel, Michael; Mortensen, Kai und Schneider, Susanne A.
(2017):
Central hemodynamics and arterial stiffness in idiopathic and multiple system atrophy.
In: Journal of Neurology, Bd. 264, Nr. 2: S. 327-332
Müller, Stefanie H.; Girard, Simon L.; Hopfner, Franziska; Merner, Nancy D.; Bourassa, Cynthia V.; Lorenz, Delia; Clark, Lorraine N.; Tittmann, Lukas; Soto-Ortolaza, Alexandra I.; Klebe, Stephan; Hallett, Mark; Schneider, Susanne A.; Hodgkinson, Colin A.; Lieb, Wolfgang; Wszolek, Zbigniew K.; Pendziwiat, Manuela; Lorenzo-Betancor, Oswaldo; Poewe, Werner; Ortega-Cubero, Sara; Seppi, Klaus; Rajput, Alex; Hussl, Anna; Rajput, Ali H.; Berg, Daniela; Dion, Patrick A.; Wurster, Isabel; Shulman, Joshua M.; Srulijes, Karin; Haubenberger, Dietrich; Pastor, Pau; Vilariño-Güell, Carles; Postuma, Ronald B.; Bernard, Geneviève; Ladwig, Karl-Heinz; Dupré, Nicolas; Jankovic, Joseph; Strauch, Konstantin; Panisset, Michel; Winkelmann, Juliane; Testa, Claudia M.; Zeuner, Kirsten E.; Reischl, Eva; Ross, Owen A.; Arzberger, Thomas; Chouinard, Sylvain; Deuschl, Günther; Louis, Elan D.; Kuhlenbäumer, Gregor und Rouleau, Guy A.
(2016):
Genome-wide association study in essential tremor identifies three new loci.
In: Brain, Bd. 139: S. 3163-3169
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