Peer-reviewedCC BY 4.0BMJ Neurology Open5 Oct 2026

Bi-allelic intermediate ATXN2 repeat expansions are associated with slow progressing, leg-onset familial ALS

Koen Cedric Demaegd
Wouter Koole
Joke Jfa van Vugt
Jan Willem Dankbaar
Jeroen Hendrikse
A Nazlı Başak
Mamede de Carvalho
Philippe Corcia
Philippe Codron
Emilien Bernard
Claire Guissart
Philippe Couratier

10 more authors

Mónica Povedano Panades
Pieter A van Doorn
Bart P Warrenburg
Johnathan Cooper-Knock
R Jeroen Pasterkamp
Wouter van Rheenen
Philip van Damme
Leonard H van den Berg
Jan Herman Veldink
Michael A van Es

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BibTeX

@article{demaegd2026biallelic,
  title = {{Bi-allelic intermediate ATXN2 repeat expansions are associated with slow progressing, leg-onset familial ALS}},
  author = {Koen Cedric Demaegd and Wouter Koole and Joke Jfa van Vugt and Jan Willem Dankbaar and Jeroen Hendrikse and A Nazlı Başak and Mamede de Carvalho and Philippe Corcia and Philippe Codron and Emilien Bernard and Claire Guissart and Philippe Couratier and Mónica Povedano Panades and Pieter A van Doorn and Bart P Warrenburg and Johnathan Cooper-Knock and R Jeroen Pasterkamp and Wouter van Rheenen and Philip van Damme and Leonard H van den Berg and Jan Herman Veldink and Michael A van Es},
  journal = {BMJ Neurology Open},
  year = {2026},
  month = oct,
  doi = {10.1136/bmjno-2025-001417},
  url = {https://hal.science/hal-05777539v1},
  note = {CC BY 4.0},
}

RIS

TY  - JOUR
TI  - Bi-allelic intermediate ATXN2 repeat expansions are associated with slow progressing, leg-onset familial ALS
AU  - Koen Cedric Demaegd
AU  - Wouter Koole
AU  - Joke Jfa van Vugt
AU  - Jan Willem Dankbaar
AU  - Jeroen Hendrikse
AU  - A Nazlı Başak
AU  - Mamede de Carvalho
AU  - Philippe Corcia
AU  - Philippe Codron
AU  - Emilien Bernard
AU  - Claire Guissart
AU  - Philippe Couratier
AU  - Mónica Povedano Panades
AU  - Pieter A van Doorn
AU  - Bart P Warrenburg
AU  - Johnathan Cooper-Knock
AU  - R Jeroen Pasterkamp
AU  - Wouter van Rheenen
AU  - Philip van Damme
AU  - Leonard H van den Berg
AU  - Jan Herman Veldink
AU  - Michael A van Es
PY  - 2026
DA  - 2026/10/05
JO  - BMJ Neurology Open
DO  - 10.1136/bmjno-2025-001417
UR  - https://hal.science/hal-05777539v1
SN  - 2632-6140
SN  - 2632-6140
ER  -

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