AG Schöls
Clinical Neurogenetics
Also known as:AG Schoels 1; AG Schöls; Klinische Neurogenetik
⇧ TÜ DZNE ⇧
Recent Publications
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Journal Article (Letter)
Roller, J. R.DZNE* ; Yahia, A. ; Stevanin, G. ; Ahmed, A. E. ; Alawadhi, A. M. T. ; Almannai, M. ; Busehail, M. Y. ; Choi, A. H. ; Elhassan, A. A. ; Elsayed, L. E. O. ; Goode, C. ; Hammer, L. H. ; Laukaitis, C. ; Begtrup, A. ; Paul, R. A. ; Roohi, J. ; Tomoum, H. Y. ; Bauer, P. ; Schöls, L.DZNE* ; Basto, J. P. ; Synofzik, M.DZNE* ; Hengel, H. (Last author)DZNE*
The RAB3A hot spot variant R83W causes spasticity as part of the ataxia-spasticity spectrum.
Brain 149(4), e36 - e38 (2026) [10.1093/brain/awaf482]2026
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Journal Article
Meyer, C. C. ; de Mattos, E. P. ; Burger, R. M. ; Blumenstock, G. ; Pereira Sena, P. ; Gordon, C. ; Zaltzman, R. ; França, M. C. ; Saraiva-Pereira, M.-L. ; Cornejo-Olivas, M. R. ; Bauer, P. ; Schöls, L.DZNE* ; van de Warrenburg, B. P. ; Durr, A. ; Brice, A. ; Klockgether, T.DZNE* ; Jardim, L. B. ; Riess, O. ; Network, E. (Collaboration Author) ; Schmidt, T. ; Bauer, P. (Contributor) ; Berciano, J. (Contributor) ; Boesch, S. (Contributor) ; Brice, A. (Contributor) ; Durr, A. (Contributor) ; Forlani, S. (Contributor) ; Giunti, P. (Contributor) ; Jacobi, H. (Contributor) ; Klockgether, T. (Contributor)Extern* ; Melegh, B. (Contributor) ; Pandolfo, M. (Contributor) ; Riess, O. (Contributor) ; Schmitz-Hübsch, T. (Contributor) ; Schöls, L. (Contributor)Extern* ; Schulz, J. B. (Contributor) ; Stevanin, G. (Contributor) ; Szymanski, S. (Contributor) ; du Montcel, S. T. (Contributor) ; Timmann, D. (Contributor) ; van de Warrenburg, B. P. C. (Contributor)
Association of rare apolipoprotein E ε4 homozygosity with an earlier age at onset in spinocerebellar ataxia type 3.
Human molecular genetics 35(5), ddag016 (2026) [10.1093/hmg/ddag016]2026
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Journal Article
Pontillo, G. ; Penna, S. ; Arrigoni, F. ; Bender, B. ; Boesch, S. ; Brunetti, A. ; Cendes, F. ; Chopra, S. ; Corben, L. A. ; Deistung, A. ; Delatycki, M. B. ; Diciotti, S. ; Dogan, I. ; Egan, G. F. ; França, M. C. ; Georgiou-Karistianis, N. ; Göricke, S. L. ; Henry, P.-G. ; Hernandez-Castillo, C. R. ; Hutter, D. ; Joers, J. M. ; Lenglet, C. ; Lindig, T. ; Lodi, R. ; Manners, D. N. ; Martinez, A. R. M. ; Martinuzzi, A. ; Marzi, C. ; Mascalchi, M. ; Nachbauer, W. ; Pane, C. ; Peruzzo, D. ; Pishardy, P. K. ; Reetz, K. ; Rezende, T. J. R. ; Romanzetti, S. ; Saccà, F. ; Schoels, L.DZNE* ; Schulz, J. B. ; Stefani, A. ; Synofzik, M.DZNE* ; Thomopoulos, S. I. ; Thompson, P. M. ; Timmann, D. ; Tonon, C. ; Vavla, M. ; Harding, I. H. ; Cocozza, S.
Identification of Biological Subtypes of Friedreich Ataxia with Structural MRI-based Machine Learning.
Radiology 318(3), e251386 (2026) [10.1148/radiol.251386]2026
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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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All known publications ...
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