Publikationen
- Yasa S, Butz ES, Colombo A, Chandrachud U, Montore L, Tschirner S, Prestel M, Sheridan SD, Müller SA, Groh J, Lichtenthaler SF, Tahirovic S, Cotman SL. Loss of CLN3 in microglia leads to impaired lipid metabolism and myelin turnover.Commun Biol. 2024 Oct 22;7(1):1373. doi: 10.1038/s42003-024-07057-w. PMID: 39438652; PMCID: PMC11496662.
- Sigutova V, Xiang W, Regensburger M, Winner B, Prots I. Alpha-synuclein fine-tunes neuronal response to pro-inflammatory cytokines. Brain Behav Immun. 2024 Aug 14;122:216-230. doi: 10.1016/j.bbi.2024.08.015. Epub ahead of print. PMID: 39128571.
- Mächtel R, Dobert JP, Hehr U, Weiss A, Kettwig M, Laugwitz L, Groeschel S, Schmidt M, Arnold P, Regensburger M, Zunke F. Late-onset Krabbe disease presenting as spastic paraplegia - implications of GCase and CTSB/D. Ann Clin Transl Neurol. 2024 Jul;11(7):1715-1731. https://doi.org/10.1002/acn3.52078
- Manibarathi K, Pham T, Hengel H, Synofzik M, Nagel M, Schüle R. An iPSC model for POLR3A-associated spastic ataxia: Generation of three unrelated patient cell lines. Stem Cell Researc 2024; Apr; 76:103363. https://doi.org/10.1016/j.scr.2024.103363
- Dobert JP, Bub S, Mächtel R, Januliene D, Steger L, Regensburger M, Wilfling S, Chen JX, Dejung M, Plötz S, Hehr U, Moeller A, Arnold P, Zunke F. Activation and Purification of ß-Glucocerebrosidase by Exploiting its Transporter LIMP-2 - Implications for Novel Treatment Strategies in Gaucher's and Parkinson's Disease. Advanced Science 2024; Apr 26:e2401641. https://doi.org/10.1002/advs.202401641
- Korneck M, Leonhardt A, Schöls L, Hauser S. Generation of homozygous and heterozygous REEP1 knockout induced pluripotent stem cell lines by CRISPR/Cas9 gene editing. Stem Cell Research 2024; Mar 5;77:103378. https://doi.org/10.1016/j.scr.2024.103378
- Krumm L, Winkler J, Winner B, Regensburger M. Plasma Neurofilaments: Potential Biomarkers of SPG11‐Related Hereditary Spastic Paraplegia. Movement Disorders 2024 Apr;39(4):755-757. https://doi.org/10.1002/mds.29755
- Hörner M, Popp S, Branchu J, Stevanin G, Darios F, Klebe S, Groh J, Martini R. Clinically approved immunomodulators ameliorate behavioral changes in a mouse model of hereditary spastic paraplegia type 11. Frontiers in Neuroscience 2024; 18: 1299554. https://doi.org/10.3389/fnins.2024.1299554
- Graessner H, Reinhard C, Bäumer T, Baumgärtner A, Brockmann K, Brüggemann N, Bültmann E, Erdmann J, Heise K, Höglinger G, Hüning I, Kaiser FJ, Klein C, Klopstock T, Krägeloh-Mann I, Kraemer M, Luedtke K, Mücke M, Musacchio T, Nadke A, Osmanovic A, Ritter G, Röse K, Schippers C, Schöls L, Schüle R, Schulz JB, Sproß J, Stasch E, Wunderlich G, Münchau A. Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases. Orphanet journal of rare diseases 2024; 19(1): 62. https://doi.org/10.1186/s13023-024-03023-1
- Krumm L, Pozner T, Zagha N, Coras R, Arnold P, Tsaktanis T, Scherpelz K, Davis MY, Kaindl J, Stolzer I, Süß P, Khundadze M, Hübner CA, Riemenschneider MJ, Baets J, Günther C, Jayadev S, Rothhammer V, Krach F, Winkler J, Winner B, Regensburger M. Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients. Acta Neuropathologica 2024; 147(1): 28. https://doi.org/10.1007%2Fs00401-023-02675-w
- Méreaux JL, Davoine CS, Pellerin D, Coarelli G, Coutelier M, Ewenczyk C, Monin ML, Anheim M, Le Ber I, Thobois S, Gobert F, Guillot-Noël L, Forlani S, Jornea L, Heinzmann A, Sangare A, Gaymard B, Guyant-Maréchal L, Charles P, Marelli C, Honnorat J, Degos B, Tison F, Sangla S, Simonetta-Moreau M, Salachas F, Tchikviladzé M, Castelnovo G, Mochel F, Klebe S, Castrioto A, Fenu S, Meneret A, Bourdain F, Wandzel M, Roth V, Bonnet C, Riant F, Stevanin G, Noël S, Fauret-Amsellem AL, Bahlo M, Lockhart PJ, Brais B, Renaud M, Brice A, Durr A. Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions. EBioMedicine 2024; 99: 104931. https://doi.org/10.1016/j.ebiom.2023.104931
- German A, Jukic J, Laner A, Arnold P, Socher E, Mennecke A, Schmidt MA, Winkler J, Abicht A, Regensburger M. Novel Homozygous FA2H Variant Causing the Full Spectrum of Fatty Acid Hydroxylase-Associated Neurodegeneration (SPG35).Genes 2023; 15(1): 14. https://doi.org/10.3390/genes15010014
- Regensburger M, Kinfe TM. Role of the adipocyte immune brain axis in Parkinson's disease: friend or foe? Natural Regeneration Research 2023; 18(11): 2399-2400. doi: 10.4103/1673-5374.369112
- Montoro-Gámez C, Nolte H, Molinié T, Evangelista G, Tröder SE, Barth E, Popovic M, Trifunovic A, Zevnik B, Langer T, Rugarli EI. SARM1 deletion delays cerebellar but not spinal cord degeneration in an enhanced mouse model of SPG7 deficiency. Brain 2023; 146(10): 4117-4131. DOI: 10.1093/brain/awad136
Ollenschläger M, Höfner P, Ullrich M, Kluge F, Greinwalder T, Loris E, Regensburger M, Eskofier BM, Winkler J, Gaßner H. Automated assessment of foot elevation in adults with hereditary spastic paraplegia using inertial measurements and machine learning. Orphanet Journal of Rare Diseases 2023; 18(1): 249. https://doi.org/10.1186/s13023-023-02854-8
Foronda H, Fu Y, Covarrubias-Pinto A, Bocker HT, González A, Seemann E, Franzka P, Bock A, Bhaskara RM, Liebmann L, Hoffmann ME, Katona I, Koch N, Weis J, Kurth I, Gleeson JG, Reggiori F, Hummer G, Kessels MM, Qualmann B, Mari M, Dikić I, Hübner CA. Heteromeric clusters of ubiquitinated ER-shaping proteins drive ER-phagy. Nature 2023; 618(7964): 402-410. https://doi.org/10.1038/s41586-023-06090-9
Traschütz A, Adarmes-Gomez AD, Anheim M, Baets J, Brais B, Gagnon C, Gburek-Augustat J, Doss S, Hanagasi HA, Kamm C, Klivenyi P, Klockgether T, Klopstock T, Minnerop M, Münchau A, Renaud M, Santorelli FM, Schöls L, Thieme A, Vielhaber S, van de Warrenburg BP, Zanni G, Hilgers RD, consortium P, Synofzik M. Responsiveness of the SARA and natural history in 884 recessive and early onset ataxia patients. Annals of Neurology 2023 Sep;94(3):470-485. DOI: 10.1002/ana.26712
Traschütz A, Adarmes-Gómez AD, Anheim M, Baets J, Brais B, Gagnon C, Gburek-Augustat J, Doss S, Hanağası HA, Kamm C, Klivenyi P, Klockgether T, Klopstock T, Minnerop M, Münchau A, Renaud M, Santorelli FM, Schöls L, Thieme A, Vielhaber S, van de Warrenburg BP, Zanni G, Hilgers RD, Consortium P, Synofzik M. Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients. Annals of Neurology 2023 Sep;94(3):470-485. DOI: 10.1002/ana.26712
Jacobi H, Weiler M, Sam G, Heiland S, Hayes JM, Bendszus M, Schüle R, Hayes JC. Peripheral nerve involvement in hereditary spastic paraplegia characterized by quantitative magnetic resonance neurography. European Journal of Neurology 2023; 30(8): 2442-2452. DOI: 10.1111/ene.15841
- Traschütz A, Adarmes-Gomez AD, Anheim M, Baets J, Falkenburger BH, Gburek-Augustat J, Doss S, Kamm C, Klivenyi P, Grobe-Einsler M, Klopstock T, Minnerop M, Münchau A, Pane C, Renaud M, Santorelli FM, Schöls L, Timmann D, Vielhaber S, Haack TB, van de Warrenburg BP, Zanni G, Synofzik M. Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients. Movement Disorders 2023; 38(6): 1109-1112. https://doi.org/10.1002/mds.29397
- Pellerin D, Danzi MC, Wilke C, Renaud M, Fazal S, Dicaire MJ, Scriba CK, Ashton C, Yanick C, Beijer D, Rebelo A, Rocca C, Jaunmuktane Z, Sonnen JA, Larivière R, Genís D, Molina Porcel L, Choquet K, Sakalla R, Provost S, Robertson R, Allard-Chamard X, Tetreault M, Reiling SJ, Nagy S, Nishadham V, Purushottam M, Vengalil S, Bardhan M, Nalini A, Chen Z, Mathieu J, Massie R, Chalk CH, Lafontaine AL, Evoy F, Rioux MF, Ragoussis J, Boycott KM, Dube MP, Duquette A, Houlden H, Ravenscroft G, Laing NG, Lamont PJ, Saporta MA, Schüle R, Schöls L, La Piana R, Synofzik M, Zuchner S, Brais B. Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia. New England Journal of Medicine 2023; 388(2): 128-141. https://doi.org/10.5334/tohm.835
- Loris E, Ollenschläger M, Greinwalder T, Eskofier B, Winkler J, Gaßner H, Regensburger M. Mobile digital gait analysis objectively measures progression in hereditary spastic paraplegia. Annals of Clinical and Translational Neurology 2023; 10(3): 447-452. DOI: 10.1002/acn3.51725
- Regensburger M, Rasul Chaudhry S, Yasin H, Zhao Y, Stadlbauer A, Buchfelder M, Kinfe T. Emerging roles of leptin in Parkinson's disease: Chronic inflammation, neuroprotection and more? Brain Behavior and Immunity 2023; 107: 53-61. DOI: 10.1016/j.bbi.2022.09.010
- Hörner M, Groh J, Klein D, Ilg W, Schöls L, Dos Santos S, Bergmann A, Klebe S, Cauhape M, Branchu J, El Hachimi KH, Stevanin G, Darios F, Martini R. CNS-associated T-lymphocytes in a mouse model of Hereditary Spastic Paraplegia type 11 (SPG11) are therapeutic targets for established immunomodulators. Experimental Neurology 2022, 355:114119. DOI: 10.1016/j.expneurol.2022.114119
- Gaßner H, Friedrich J, Masuch A, Jukic J, Stallforth S, Regensburger M, Marxreiter F, Winkler J, Klucken J. The Effects of an Individualized Smartphone-Based Exercise Program on Self-defined Motor Tasks in Parkinson Disease: Pilot Interventional Study. Jmir Rehabilitation Assistive Technologies 2022; 9(4): e38994. DOI: 10.2196/38994
- Laßmann C, Ilg W, Schneider M, Völker M, Haeufle DFB, Schüle R, Giese M, Synofzik M, Schöls L, Rattay TW. Specific Gait Changes in Prodromal Hereditary Spastic Paraplegia Type 4: preSPG4 Study. Movement Disorders 2022; 37(12): 2417-2426. DOI: 10.1002/mds.29199
- Rebelo AP, Ruiz A, Dohrn MF, Wayand M, Farooq A, Danzi MC, Beijer D, Aaron B, Vandrovcova J, Houlden H, Matalonga L, Abreu L, Rouleau G, Estiar MA, Van de Vondel L, Gan-Or Z, Baets J, Schüle R, Zuchner S. BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease. Genetics in Medicine 2022; 24(12): 2487-2500. DOI: 10.1016/j.gim.2022.08.019
- Regensburger M, Krumm L, Schmidt MA, Schmid A, Spatz IT, Marterstock DC, Kopp C, Kohl Z, Doerfler A, Karrasch T, Winner B, Winkler J. Neurometabolic Dysfunction in SPG11 Hereditary Spastic Paraplegia. Nutrients 2022; 14(22): 4803. DOI: 10.3390/nu14224803
- Krach F, Stemick J, Boerstler T, Weiss A, Lingos I, Reischl S, Meixner H, Ploetz S, Farrell M, Hehr U, Kohl Z, Winner B, Winkler J. An alternative splicing modulator decreases mutant HTT and improves the molecular fingerprint in Huntington's disease patient neurons. Nature Communications 2022; 13(1): 6797. DOI: 10.1038/s41467-022-34419-x
- Kessler C, Ruschil C, Abdelhak A, Wilke C, Maleska A, Kuhle J, Krumbholz M, Kowarik MC, Schüle R. Serum Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Biomarkers in Primary Progressive Multiple Sclerosis and Hereditary Spastic Paraplegia Type 4. International Journal of Molecular Sciences 2022; 23(21): 13466. DOI: 10.3390/ijms232113466
- Nagel M, Noss M, Xu J, Horn N, Ueffing M, Boldt K, Schüle R. The kinesin motor KIF1C is a putative transporter of the exon junction complex in neuronal cells. RNA 2022; 29(1): 55-68. DOI: 10.1261/rna.079426.122
- Marrone L, Marchi PM, Webster CP, Marroccella R, Coldicott I, Reynolds S, Alves-Cruzeiro J, Yang ZL, Higginbottom A, Khundadze M, Shaw PJ, Hübner CA, Livesey MR, Azzouz M. SPG15 protein deficits are at the crossroads between lysosomal abnormalities, altered lipid metabolism and synaptic dysfunction. Human Molecular Genetics 2022; 31(16): 2693-2710. DOI: 10.1093/hmg/ddac063
- Ollenschläger M, Küderle A, Mehringer W, Seifer AK, Winkler J, Gassner H, Kluge F, Eskofier BM. MaD GUI: An Open-Source Python Package for Annotation and Analysis of Time-Series Data. Sensors (Basel) 2022; 22(15): 5849
- Utz KS, Kohl Z, Marterstock DC, Doerfler A, Winkler J, Schmidt M, Regensburger M. Neuropsychology and MRI correlates of neurodegeneration in SPG11 hereditary spastic paraplegia. Orphanet Journal of Rare Diseases 2022; 17(1): 301. DOI: 10.1186/s13023-022-02451-1
- Tönges L, Klebe S. SARS-CoV-2, COVID-19 and Neurodegeneration. Brain Sciences 2022; 12(7): 897. https://doi.org/10.3390/brainsci12070897
- Krach F, Wheeler EC, Regensburger M, Boerstler T, Wend H, Vu AQ, Wang R, Reischl S, Boldt K, Batra R, Aigner S, Ravits J, Winkler J, Yeo GW, Winner B. Aberrant NOVA1 function disrupts alternative splicing in early stages of amyotrophic lateral sclerosis. Acta Neuropathologica Communications 2022; 144(3): 413-435. DOI: 10.1007/s00401-022-02450-3
- Leupold L, Sigutova V, Gerasimova E, Regensburger M, Zundler S, Zunke F, Xiang W, Winner B, Prots I. The Quest for Anti-α-Synuclein Antibody Specificity-Lessons Learnt From Flow Cytometry Analysis. Frontiers in Neurology 2022; 13: 869103. https://doi.org/10.3389/fneur.2022.869103
- Regensburger M, Spatz IT, Ollenschläger M, Martindale CF, Lindeburg P, Kohl Z, Eskofier B, Klucken J, Schüle R, Klebe S, Winkler J, Gaßner H. Inertial Gait Sensors to Measure Mobility and Functioning in Hereditary Spastic Paraplegia: A Cross-Sectional Multicenter Clinical Study. Neurology 2022; 99(10): e1079-e1089. DOI: 10.1212/WNL.0000000000200819
- Goerttler T, Zanetti L, Regoni M, Egger K, Kellner E, Deuschl C, Kleinschnitz C, Sassone J, Klebe S. Adult-Onset Alexander Disease: New Causal Sequence Variant in the GFAP Gene. Neurology: Genetics 2022; 8(3): e681. doi: 10.1212/NXG.0000000000000681
- Lanfer J, Kaindl J, Krumm L, Acera MG, Neurath M, Regensburger M, Krach F, Winner B. Efficient and Easy Conversion of Human iPSCs into Functional Induced Microglia-like Cells. International Journal of Molecular Sciences 2022; 23(9): 12. DOI: 10.3390/ijms23094526
- Wilke C, Mengel D, Schöls L, Hengel H, Rakowicz M, Klockgether T, Durr A, Filla A, Melegh B, Schüle R, Reetz K, Jacobi H, Synofzik M. Levels of Neurofilament Light at the Preataxic and Ataxic Stages of Spinocerebellar Ataxia Type. Neurology 2022; 98(20): E1985-E1996. DOI: 10.1212/WNL.0000000000200257
- Korneck M, Wiora L, Schöls L, Hauser S. Generation of two SPAST knockout human induced pluripotent stem cell lines to create a model for Hereditary Spastic Paraplegia type 4. Stem Cell Research 2022; 60: 102741. DOI: 10.1016/j.scr.2022.102741
- Goerttler T, Kwon EH, Fleischer M, Stettner M, Tönges L, Klebe S. SARS-CoV-2, COVID-19 and Parkinson's Disease-Many Issues Need to Be Clarified-A Critical Review. Brain Sciences 2022; 12(4): 456. https://doi.org/10.3390/brainsci12040456
- Tönges L, Kwon EH, Klebe S. Monogenetic Forms of Parkinson's Disease - Bridging the Gap Between Genetics and Biomarkers. Frontiers in Aging Neuroscience 2022; 14: 822949. https://doi.org/10.3389/fnagi.2022.822949
- Van de Vondel L, De Winter J, Beijer D, Coarelli G, Wayand M, Palvadeau R, Pauly MG, Klein K, Rautenberg M, Guillot-Noël L, Deconinck T, Vural A, Ertan S, Dogu O, Uysal H, Brankovic V, Herzog R, Brice A, Durr A, Klebe S, Stock F, Bischoff AT, Rattay TW, Sobrido MJ, De Michele G, De Jonghe P, Klopstock T, Lohmann K, Zanni G, Santorelli FM, Timmerman V, Haack TB, Züchner S, Schüle R, Stevanin G, Synofzik M, Basak AN, Baets J. De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia. Movement Disorders 2022; 37(6): 1175-1186. https://doi.org/10.1002/mds.28959
- Kessler C, Serna-Higuita LM, Wilke C, Rattay TW, Hengel H, Reichbauer J, Stransky E, Leyva-Gutiérrez A, Mengel D, Synofzik M, Schöls L, Martus P, Schüle R. Characteristics of serum neurofilament light chain as a biomarker in hereditary spastic paraplegia type 4. Annals of Clinical and Translational Neurology 2022; 9(3): 326-338. DOI: 10.1002/acn3.51518
- Thierfelder A, Seemann J, John N, Harmuth F, Giese M, Schüle R, Schöls L, Timmann D, Synofzik M, Ilg W. Real-Life Turning Movements Capture Subtle Longitudinal and Preataxic Changes in Cerebellar Ataxia. Movement Disorders 2022; 37(5): 1047-1058. https://doi.org/10.1002/mds.28930
- Rizo T, Gebhardt L, Riedlberger J, Eberhardt E, Fester L, Alansary D, Winkler J, Turan S, Arnold P, Niemeyer BA, Fischer MJM, Winner B. Store-operated calcium entry is reduced in spastin-linked hereditary spastic paraplegia. Brain 2022; 145(9): 3131-3146. DOI: 10.1093/brain/awac122
- Khundadze M, Ribaudo F, Hussain A, Stahlberg H, Brocke-Ahmadinejad N, Franzka P, Varga RE, Zarkovic M, Pungsrinont T, Kokal M, Ganley IG, Beetz C, Sylvester M, Hübner CA. Mouse models for hereditary spastic paraplegia uncover a role of PI4K2A in autophagic lysosome reformation. Autophagy 2021; 17(11): 3690-3706. DOI: 10.1080/15548627.2021.1891848
- Gaßner H, List J, Martindale CF, Regensburger M, Klucken J, Winkler J, Kohl Z. Functional gait measures correlate to fear of falling, and quality of life in patients with Hereditary Spastic Paraplegia: A cross-sectional study. Clinical Neurology and Neurosurgery 2021; 209: 106888. DOI: 10.1016/j.clineuro.2021.106888
- Synofzik M, Van Roon-Mom WMC, Marckmann G, van Duyvenvoorde HA, Graessner H, Schüle R, Aartsma-Rus A, consortium botMM. Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical Perspectives. Nucleic Acid Therapeutics Epub 2021 Sep 29. DOI: 10.1089/nat.2021.0039
- Krumm L, Pozner T, Kaindl J, Regensburger M, Günther C, Turan S, Asadollahi R, Rauch A, Winner B. Generation and characterization of an endogenously tagged SPG11-human iPSC line by CRISPR/Cas9 mediated knock-in. Stem Cell Research2021; 56: 102520. DOI: 10.1016/j.scr.2021.102520
- Güner F, Pozner T, Krach F, Prots I, Loskarn S, Schlötzer-Schrehardt U, Winkler J, Winner B, Regensburger M. Axon-Specific Mitochondrial Pathology in SPG11 Alpha Motor Neurons. Frontiers in Neuroscience 2021; 15: 680572. DOI: 10.3389/fnins.2021.680572
- Traschütz A, Reich S, Adarmes AD, Anheim M, Ashrafi MR, Baets J, Basak AN, Bertini E, Brais B, Gagnon C, Gburek-Augustat J, Hanagasi HA, Heinzmann A, Horvath R, de Jonghe P, Kamm C, Klivenyi P, Klopstock T, Minnerop M, Münchau A, Renaud M, Roxburgh RH, Santorelli FM, Schirinzi T, Sival DA, Timmann D, Vielhaber S, Wallner M, van de Warrenburg BP, Zanni G, Zuchner S, Klockgether T, Schüle R, Schöls L, Synofzik M, Consortium P. The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias. Frontiers in Neurology 2021; 12: 677551. https://doi.org/10.3389/fneur.2021.677551
- Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M, van de Warrenburg B, Schöls L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Matalonga L, Graessner H, Synofzik M, Solve-RD-DITF-RND, Consortium S-R. Solving unsolved rare neurological diseases-a Solve-RD viewpoint. European Journal of Human Genetics 2021; 29(9): 1332-1336. DOI: 10.1038/s41431-021-00901-1
- Tadepalle N, Rugarli EI. Lipid Droplets in the Pathogenesis of Hereditary Spastic Paraplegia. Frontiers in Molecular Biosciences 2021; 8: 673977. https://doi.org/10.3389/fmolb.2021.673977
- Wiessner M, Maroofian R, Ni MY, Pedroni A, Müller JS, Stucka R, Beetz C, Efthymiou S, Santorelli FM, Alfares AA, Zhu CL, Meszarosova AU, Alehabib E, Bakhtiari S, Janecke AR, Otero MG, Chen JYH, Peterson JT, Strom TM, De Jonghe P, Deconinck T, De Ridder W, De Winter J, Pasquariello R, Ricca I, Alfadhel M, van de Warrenburg BP, Portier R, Bergmann C, Firouzabadi SG, Jin SC, Bilguvar K, Hamed S, Abdelhameed M, Haridy NA, Maqbool S, Rahman F, Anwar N, Carmichael J, Pagnamenta A, Wood NW, Mau-Them FT, Haack T, Di Rocco M, Ceccherini I, Iacomino M, Zara F, Salpietro V, Scala M, Rusmini M, Xu YR, Wang YH, Suzuki Y, Koh K, Nan HT, Ishiura H, Tsuji S, Lambert L, Schmitt E, Lacaze E, Küpper H, Dredge D, Skraban C, Goldstein A, Willis MJH, Grand K, Graham JM, Lewis RA, Millan F, Duman O, Dündar N, Uyanik G, Schöls L, Nürnberg P, Nürnberg G, Bordes AC, Seeman P, Kuchar M, Darvish H, Rebelo A, Bouçanova F, Medard JJ, Chrast R, Auer-Grumbach M, Alkuraya FS, Shamseldin H, Al Tala S, Varaghchi JR, Najafi M, Deschner S, Gläser D, Hüttel W, Kruer MC, Kamsteeg EJ, Takiyama Y, Zuchner S, Baets J, Synofzik M, Schüle R, Horvath R, Houlden H, Bartesaghi L, Lee HJ, Ampatzis K, Pierson TM, Senderek J, Consortium GER, Network P. Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. Brain 2021; 144(5): 1422-1434. DOI: 10.1093/brain/awab041
- Kessler C, Serna-Higuita LM, Rattay TW, Maetzler W, Wurster I, Hayer S, Wilke C, Hengel H, Reichbauer J, Armbruster M, Schöls L, Martus P, Schüle R. Neurofilament light chain is a cerebrospinal fluid biomarker in hereditary spastic paraplegia. Annals of Clinical and Translational Neurology 2021; 8(5): 1122-1131. https://doi.org/10.1002/acn3.51358
Nagel M, Müßig S, Höflinger P, Schöls L, Hauser S, Schüle R. Generation of the CRISPR/Cas9-mediated KIF1C knock-out human iPSC line HIHRSi003-A-1. Stem Cell Research 2020; 49: 102059. DOI: 10.1016/j.scr.2020.102059
Gaßner H, Sanders P, Dietrich A, Marxreiter F, Eskofier BM, Winkler J, Klucken J. Clinical Relevance of Standardized Mobile Gait Tests. Reliability Analysis Between Gait Recordings at Hospital and Home in Parkinson's Disease: A Pilot Study. Journal of Parkinson´s Disease 2020; 10(4): 1763-1773. DOI: 10.3233/JPD-202129
Regensburger M, Stemick J, Masliah E, Kohl Z, Winner B. Intracellular A53T Mutant alpha-Synuclein Impairs Adult Hippocampal Newborn Neuron Integration. Frontiers in Cell and Developmental Biology 2020; 8: 561963. DOI: 10.3389/fcell.2020.561963
Schuster S, Heuten E, Velic A, Admard J, Synofzik M, Ossowski S, Macek B, Hauser S, Schöls L. CHIP mutations affect the heat shock response differently in human fibroblasts and iPSC-derived neurons. Disease Models & Mechanisms 2020; 13(10): dmm045096. DOI: 10.1242/dmm.045096
Hauser S, Schuster S, Heuten E, Höflinger P, Admard J, Schelling Y, Velic A, Macek B, Ossowski S, Schöls L. Comparative Transcriptional Profiling of Motor Neuron Disorder-Associated Genes in Various Human Cell Culture Models. Frontiers in Cell and Developmental Biology 2020; 8: 544043. https://doi.org/10.3389/fcell.2020.544043
Pozner T, Regensburger M, Engelhorn T, Winkler J, Winner B. Janus-faced spatacsin (SPG11): involvement in neurodevelopment and multisystem neurodegeneration. Brain: A Journal of Neurology 2020; 143(8): 2369–2379. DOI: 10.1093/brain/awaa099
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