AG Schöls
Clinical Neurogenetics
Also known as:AG Schoels 1; AG Schöls; Klinische Neurogenetik
⇧ TÜ DZNE ⇧
Recent Publications
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Journal Article
Maas, R. P. P. W. M. ; Garcia-Moreno, H. ; Faber, J.DZNE* ; Gonzalez, C. ; Schöls, L.DZNE* ; de Vries, J. J. ; Bushara, K. ; Reetz, K. ; Onyike, C. U. ; Jacobi, H. ; Erdlenbruch, F. ; Infante, J. ; Santana, M. M. ; Hübener-Schmid, J. ; de Almeida, L. P. ; Lima, M. ; Giunti, P. ; Klockgether, T.DZNE* ; group, E. s. (Collaboration Author) ; van de Warrenburg, B. P. C.
Cognitive impairment in SCA3: A multi-center cohort study with demographic, imaging, and biomarker correlates.
Neurobiology of disease 220, 107301 (2026) [10.1016/j.nbd.2026.107301]2026
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Journal Article
Zang, T. (First author)DZNE* ; Haack, T. B. ; Schlotterbek, M.Extern* ; Zeltner, L. ; Schöls, L.DZNE* ; Hengel, H.
Teaching NeuroImage: Honeycomb Appearance of the Basal Ganglia Suggests Biallelic Nitrilase-1 Variants.
Neurology 106(6), e214692 (2026) [10.1212/WNL.0000000000214692]2026
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Journal Article
Menden, B. ; Incebacak Eltemur, R. D. ; Demidov, G. ; et al
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.
Nature Communications 17(1), 1698 (2026) [10.1038/s41467-026-69337-9]2026
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Journal Article
Lischewski, S. A. ; Dogan, I. ; Giunti, P. ; Parkinson, M. H. ; Mariotti, C. ; Durr, A. ; Ewenczyk, C. ; Boesch, S. ; Nachbauer, W. ; Klopstock, T.DZNE* ; Stendel, C.DZNE* ; de Rivera Garrido, F. J. R. ; Schöls, L.DZNE* ; Fleszar, Z.Extern* ; Klockgether, T.DZNE* ; Grobe-Einsler, M.DZNE* ; Giordano, I.Extern* ; Rai, M. ; Pandolfo, M. ; Jacobi, H. ; Hilgers, R.-D. ; Schulz, J. B. ; Reetz, K. ; Group, E. S. (Collaboration Author) ; Indelicato, E. (Contributor) ; Amprosi, M. (Contributor) ; Gellera, C. (Contributor) ; Mongelli, A. (Contributor) ; Castaldo, A. (Contributor) ; Fichera, M. (Contributor) ; Bertini, E. (Contributor) ; Vasco, G. (Contributor) ; Biet, M. (Contributor) ; Monin, M. L. (Contributor) ; Holtbernd, F. (Contributor) ; Brcina, N. (Contributor) ; Hohenfeld, C. (Contributor) ; Radelfahr, F. (Contributor) ; Bischoff, A. (Contributor)Extern* ; Hayer, S. (Contributor)Extern* ; Koutsis, G. (Contributor) ; Breza, M. (Contributor) ; Palau, F. (Contributor) ; O'Callaghan, M. (Contributor) ; Thomas-Black, G. (Contributor) ; Manso, K. (Contributor) ; Solanky, N. (Contributor) ; Labrum, R. (Contributor)
Analysis of a Modified Version of the Inventory of Non-Ataxia Signs Over 12 Years in Patients with Friedreich's Ataxia in the EFACTS Study.
Movement disorders 41(1), 200 - 211 (2026) [10.1002/mds.70084]2026
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Journal Article
Kessler, C. ; Wilke, C.DZNE* ; Hengel, H.DZNE* ; Rattay, T. W.DZNE* ; Maleska Maceski, A. ; Kuhle, J. ; Schöls, L.DZNE* ; Schüle, R. (Last author)DZNE*
Serum NfL, but not GFAP, differentiates primary lateral sclerosis from adrenomyeloneuropathy and hereditary spastic paraplegia type 4.
Amyotrophic lateral sclerosis & frontotemporal degeneration 27(1-2), 110 - 117 (2026) [10.1080/21678421.2025.2557936]2026
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Journal Article
Silva, P. ; Costa, M. A. ; Gaspar, L. ; Durães, J. ; Cunha, I. ; Ribeiro, J. A. ; Januário, C. ; Oliveiros, B. ; Hübener-Schmid, J. ; Faber, J.DZNE* ; Raposo, M. ; Lima, M. ; Garcia-Moreno, H. ; Giunti, P. ; Beichert, L. ; Schöls, L.DZNE* ; van de Warrenburg, B. P. ; de Vries, J. ; Thieme, A. ; Reetz, K. ; Jacobi, H. ; Infante, J. ; Klockgether, T.DZNE* ; Group, E. S. (Collaboration Author) ; de Almeida, L. P. ; Santana, M. M. ; Ferreira, A. (Contributor) ; Rosa, A. (Contributor) ; Gonzalez, C. (Contributor) ; Gonzalez-Robles, C. (Contributor) ; Timmann, D. (Contributor) ; Erdlenbruch, F. (Contributor) ; Lemos, J. (Contributor) ; Vasconcelos, J. (Contributor) ; Teves, L. (Contributor) ; Pires, P. (Contributor) ; Lopes, P. (Contributor) ; Coelho, P. (Contributor) ; Kay, T. (Contributor)
The Medication Patterns of Spinocerebellar Ataxia Type 3 Mutation Carriers Enrolled in the ESMI Cohort.
CNS drugs 40(2), 233 - 246 (2026) [10.1007/s40263-025-01237-w]2026
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Journal Article (Letter)
Zimmermann, M. (First author)DZNE* ; Schöls, L. (Last author)DZNE*
Case report: hypophosphatemia as a rare cause of tremor in a 29-year-old female patient.
Neurological sciences 47(2), 185 (2026) [10.1007/s10072-025-08735-1]2026
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Journal Article
Baumeister, H. (First author)DZNE* ; Wegner, P.DZNE* ; Ferreira, M.DZNE* ; et al
Brain atrophy staging in spinocerebellar ataxia type 3 for clinical prognosis and trial enrichment.
EBioMedicine 123, 106090 (2026) [10.1016/j.ebiom.2025.106090]2026
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Journal Article
Grobe-Einsler, M. (First author)DZNE* ; Borel, S. ; Buchholz, M.DZNE* ; Sayah, S. ; Hilab, R. ; Pierron, L. ; Iskandar, A.DZNE* ; Humphries, B. ; Ewenczyk, C. ; Heinzmann, A. ; Atencio, M. ; Feldmann, K.DZNE* ; Maas, V.DZNE* ; Faber, J.DZNE* ; Boesch, S. ; Indelicato, E. ; Reetz, K. ; Schulz, J. B. ; Bischoff, A. T.DZNE* ; Klopstock, T.DZNE* ; Schöls, L.DZNE* ; Minnerop, M. ; Timmann, D. ; Davies, E. H. ; Klockgether, T.DZNE* ; Durr, A. ; Xie, F. ; Michalowsky, B. (Last author)DZNE*
Patient-reported, psychosocial and health economic outcomes in mild to moderate Friedreich's ataxia: baseline results of the PROFA study
The lancet / Regional health. Europe 61, 101552 (2026) [10.1016/j.lanepe.2025.101552]2026
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Journal Article (Review Article)
van Voorst, R. J. ; Schoenmakers, D. H. ; Bonkowsky, J. L. ; Vanderver, A. ; Krägeloh-Mann, I. ; Bernard, G. ; Bertini, E. ; Fatemi, A. ; Sgobbi, P. V. ; Wolf, N. I. ; Groeschel, S. ; Tonduti, D. ; Sevin, C. ; Orthmann-Murphy, J. L. ; Schöls, L.DZNE* ; Salsano, E. ; Brais, B. ; Jaffe, N. ; Ter Horst, K. W. ; Hannema, S. E. ; Hayes, K. G. ; Meyburg, J. ; van Heerde, M. ; Sbrocchi, A. M. ; van Spaendonk, R. ; Thiffault, I. ; Hofsteenge, G. H. ; Sudmeier-Broek, C. ; Timmer, C. ; Skwirut, D. ; Buck, A. ; Hollberg, B. ; Chapleau, R. ; Dekker, H. ; Campbell, S. G. ; Abbink, T. E. M. ; Leferink, P. S. ; van der Knaap, M. S.
Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter.
Neurology 105(11), e214320 (2025) [10.1212/WNL.0000000000214320]2025
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All known publications ...
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