Skip to content
DraconiticResearch
Search Sources API
197,768 studies31 sourcesUpdated 3 min ago
PreprintAll rights reservedmedRxiv

A coding CAG repeat expansion in EP400 causes Spinocerebellar Ataxia

  • S. V. Weckesser
  • N. Dragasevic-Miskovic
  • M. Thomsen
  • M. Moller
  • A. Milovanovic
  • F. Hinrichs
  • M. Borsche
  • A. Dalski
  • A. L. de Almeida Marcelino
  • S. Franzenburg
  • V. Kostic
  • N. Kresojevic
15 more authors
  • S.-Y. Lim
  • S. Loens
  • A. Marjanovic
  • A. Maver
  • N. Mazalica
  • A. Munchau
  • M. G. Pauly
  • A. Salamon
  • I. Stankovic
  • A. H. Tan
  • N. Bruggemann
  • C. Klein
  • H. Busch
  • A. Westenberger
  • K. Lohmann1
  1. 1Institute of Neurogenetics, University of Luebeck and University Hospital Schleswig-Holstein, 23562 Luebeck, Germany
Read full textPDFDOICite

Related

  1. ATXN8OS Intermediate Expansion Acts as a Genetic Modifier in Spinocerebellar Ataxia Type 48 ( SCA48 / STUB1 )
    Charlotte Mouraux, Jean‐loup Méreaux, Claire‐sophie Davoine +9
    Movement DisordersPeer-reviewedCC BY-NC-ND 4.0Full textGenetics & genomicsNeuroscienceHAL
  2. Stage‐Specific Patterns of Imaging and Non‐Motor Biomarkers in Spinocerebellar Ataxia Type 3
    Chun Li, Zhi‐Xian Ye, Xuan‐Yu Chen +15
    Annals of clinical and translational neurologyPeer-reviewedCC BYFull textGeneral medicineEurope PMC
  3. Somatic instability of the C9orf72 repeat expansion in blood differs between patients with amyotrophic lateral sclerosis or frontotemporal dementia.
    M. Barbier, M. Ichalalen, M.-D.-M. Amador +26
    medRxivPreprintAll rights reservedFull textHuman geneticsmedRxiv
  4. Accurate repeat expansion genotyping from whole-genome and real-time targeted nanopore sequencing with Mahi-mahi
    S. B. Gibson, R. N. Palmer, S. Hollizeck +28
    medRxivPreprintCC BY-NC-NDFull textHuman geneticsmedRxiv
  5. Clinical Meaningfulness of Individual Items of the Brief Ataxia Rating Scale and the Scale for the Assessment and Rating of Ataxia
    D. Apaydin, J. D. Schmahmann
    medRxivPreprintAll rights reservedFull textNeurologymedRxiv

Cite

BibTeXRIS
BibTeX
@misc{weckesser2026coding,
  title = {{A coding CAG repeat expansion in EP400 causes Spinocerebellar Ataxia}},
  author = {S. V. Weckesser and N. Dragasevic-Miskovic and M. Thomsen and M. Moller and A. Milovanovic and F. Hinrichs and M. Borsche and A. Dalski and A. L. de Almeida Marcelino and S. Franzenburg and V. Kostic and N. Kresojevic and S.-Y. Lim and S. Loens and A. Marjanovic and A. Maver and N. Mazalica and A. Munchau and M. G. Pauly and A. Salamon and I. Stankovic and A. H. Tan and N. Bruggemann and C. Klein and H. Busch and A. Westenberger and K. Lohmann},
  howpublished = {medRxiv},
  year = {2026},
  month = oct,
  doi = {10.64898/2026.10.16.26365393},
  url = {https://www.medrxiv.org/content/10.64898/2026.10.16.26365393v1},
}
RIS
TY  - UNPB
TI  - A coding CAG repeat expansion in EP400 causes Spinocerebellar Ataxia
AU  - S. V. Weckesser
AU  - N. Dragasevic-Miskovic
AU  - M. Thomsen
AU  - M. Moller
AU  - A. Milovanovic
AU  - F. Hinrichs
AU  - M. Borsche
AU  - A. Dalski
AU  - A. L. de Almeida Marcelino
AU  - S. Franzenburg
AU  - V. Kostic
AU  - N. Kresojevic
AU  - S.-Y. Lim
AU  - S. Loens
AU  - A. Marjanovic
AU  - A. Maver
AU  - N. Mazalica
AU  - A. Munchau
AU  - M. G. Pauly
AU  - A. Salamon
AU  - I. Stankovic
AU  - A. H. Tan
AU  - N. Bruggemann
AU  - C. Klein
AU  - H. Busch
AU  - A. Westenberger
AU  - K. Lohmann
PY  - 2026
DA  - 2026/10/16
PB  - medRxiv
DO  - 10.64898/2026.10.16.26365393
UR  - https://www.medrxiv.org/content/10.64898/2026.10.16.26365393v1
ER  -