AG Schöls

Clinical Neurogenetics Also known as:AG Schoels 1; AG Schöls; Klinische Neurogenetik
IDI:(DE-2719)5000005

TÜ DZNE

Recent Publications

All known publications ...
Download: BibTeX | EndNote XML,  Text | RIS | 

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;
Cognitive impairment in SCA3: A multi-center cohort study with demographic, imaging, and biomarker correlates.
Neurobiology of disease 220, 107301 () [10.1016/j.nbd.2026.107301] OpenAccess  Download fulltext Files BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article  ;  ;  ;  ;  ;
Teaching NeuroImage: Honeycomb Appearance of the Basal Ganglia Suggests Biallelic Nitrilase-1 Variants.
Neurology 106(6), e214692 () [10.1212/WNL.0000000000214692]  Download fulltext Files BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article  ;  ;  ; et al
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.
Nature Communications 17(1), 1698 () [10.1038/s41467-026-69337-9] OpenAccess  Download fulltext Files BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;
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 () [10.1002/mds.70084] OpenAccess  Download fulltext Files  Download fulltextFulltext by Pubmed Central BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article  ;  ;  ;  ;  ;  ;  ;
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 () [10.1080/21678421.2025.2557936] BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;
The Medication Patterns of Spinocerebellar Ataxia Type 3 Mutation Carriers Enrolled in the ESMI Cohort.
CNS drugs 40(2), 233 - 246 () [10.1007/s40263-025-01237-w] OpenAccess  Download fulltext Files BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article (Letter)  ;
Case report: hypophosphatemia as a rare cause of tremor in a 29-year-old female patient.
Neurological sciences 47(2), 185 () [10.1007/s10072-025-08735-1]  Download fulltext Files BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article  ;  ;  ; et al
Brain atrophy staging in spinocerebellar ataxia type 3 for clinical prognosis and trial enrichment.
EBioMedicine 123, 106090 () [10.1016/j.ebiom.2025.106090] OpenAccess  Download fulltext Files  Download fulltextFulltext by Pubmed Central BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;
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 () [10.1016/j.lanepe.2025.101552] OpenAccess  Download fulltext Files BibTeX | EndNote: XML, Text | RIS

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article (Review Article)  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;  ;
Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter.
Neurology 105(11), e214320 () [10.1212/WNL.0000000000214320] OpenAccess  Download fulltext Files  Download fulltextFulltext by Pubmed Central BibTeX | EndNote: XML, Text | RIS

All known publications ...
Download: BibTeX | EndNote XML,  Text | RIS | 


 Record created 2020-02-18, last modified 2024-08-16



Rate this document:

Rate this document:
1
2
3
 
(Not yet reviewed)