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

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Title: Bi-allelic intermediate ATXN2 repeat expansions are associated with slow progressing, leg-onset familial ALS.
Authors: Demaegd KC; Department of Neurology, UMC Utrecht, Utrecht, the Netherlands.; Laboratory of Neurobiology, Department of Neuroscience, KU Leuven, Leuven, Belgium., Koole W; Department of Genetics, UMC Utrecht, Utrecht, Utrecht, the Netherlands., van Vugt JJ; Department of Neurology, UMC Utrecht, Utrecht, the Netherlands., Dankbaar JW; Department of Radiology, UMC Utrecht, Utrecht, the Netherlands., Hendrikse J; Department of Radiology, UMC Utrecht, Utrecht, the Netherlands., Nazlı Başak A; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), KUTTAM, Koç University School of Medicine, Istanbul, Turkey., de Carvalho M; University of Lisbon, Lisbon, Lisbon, Portugal., Corcia P; Universite de Tours Faculte de Medecine, Tours, Centre-Val de Loire, France., Codron P; Angers University Hospital, Angers, Pays de la Loire, France., Bernard E; Rare Disease Reference Center for ALS (CRMR SLA), Pierre Wertheimer Hospital, Hospices Civils de Lyon, Institut NeuroMyoGène-PGNM, Claude Bernard University, Lyon, France., Guissart C; Montpellier University, Montpellier, Occitanie, France., Couratier P; ALS Centre, Departement of Neurology, CHU Limoges, Limoges, Aquitaine-Limousin-Poitou-Charentes, France., Povedano Panades M; Department of Neurology, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat, Catalunya, Spain., van Doorn PA; Department of Neurology, Erasmus MC, Rotterdam, the Netherlands., Warrenburg BP; Department of Neurology, Radboudumc, Nijmegen, the Netherlands., Cooper-Knock J; Department of Neurology, Sheffield Institute for Translational Neuroscience (SITraN), Sheffield, South Yorkshire, UK., Pasterkamp RJ; Department of Translational Neuroscience, UMC Utrecht, Utrecht, Utrecht, the Netherlands., van Rheenen W; Department of Neurology, UMC Utrecht, Utrecht, the Netherlands., van Damme P; Laboratory of Neurobiology, Department of Neuroscience, KU Leuven, Leuven, Belgium.; Department of Neurology, University Hospitals Leuven, Leuven, Belgium., van den Berg LH; Department of Neurology, UMC Utrecht, Utrecht, the Netherlands., Veldink JH; Department of Neurology, UMC Utrecht, Utrecht, the Netherlands., van Es MA; Department of Neurology, UMC Utrecht, Utrecht, the Netherlands.
Corporate Authors: ALS Sequencing Consortium, Project MinE PI’s
Source: BMJ neurology open [BMJ Neurol Open] 2026 Feb 18; Vol. 8 (1), pp. e001417. Date of Electronic Publication: 2026 Feb 18 (Print Publication: 2026).
Publication Type: Journal Article
Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 101775450 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-6140 (Electronic) Linking ISSN: 26326140 NLM ISO Abbreviation: BMJ Neurol Open Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Bi-allelic intermediate ATXN2 repeat expansions are associated with slow progressing, leg-onset familial ALS.
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  Data: <searchLink fieldCode="AU" term="%22Demaegd+KC%22">Demaegd KC</searchLink>; Department of Neurology, UMC Utrecht, Utrecht, the Netherlands.; Laboratory of Neurobiology, Department of Neuroscience, KU Leuven, Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Koole+W%22">Koole W</searchLink>; Department of Genetics, UMC Utrecht, Utrecht, Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Vugt+JJ%22">van Vugt JJ</searchLink>; Department of Neurology, UMC Utrecht, Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Dankbaar+JW%22">Dankbaar JW</searchLink>; Department of Radiology, UMC Utrecht, Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Hendrikse+J%22">Hendrikse J</searchLink>; Department of Radiology, UMC Utrecht, Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Nazlı+Başak+A%22">Nazlı Başak A</searchLink>; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), KUTTAM, Koç University School of Medicine, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22de+Carvalho+M%22">de Carvalho M</searchLink>; University of Lisbon, Lisbon, Lisbon, Portugal.<br /><searchLink fieldCode="AU" term="%22Corcia+P%22">Corcia P</searchLink>; Universite de Tours Faculte de Medecine, Tours, Centre-Val de Loire, France.<br /><searchLink fieldCode="AU" term="%22Codron+P%22">Codron P</searchLink>; Angers University Hospital, Angers, Pays de la Loire, France.<br /><searchLink fieldCode="AU" term="%22Bernard+E%22">Bernard E</searchLink>; Rare Disease Reference Center for ALS (CRMR SLA), Pierre Wertheimer Hospital, Hospices Civils de Lyon, Institut NeuroMyoGène-PGNM, Claude Bernard University, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Guissart+C%22">Guissart C</searchLink>; Montpellier University, Montpellier, Occitanie, France.<br /><searchLink fieldCode="AU" term="%22Couratier+P%22">Couratier P</searchLink>; ALS Centre, Departement of Neurology, CHU Limoges, Limoges, Aquitaine-Limousin-Poitou-Charentes, France.<br /><searchLink fieldCode="AU" term="%22Povedano+Panades+M%22">Povedano Panades M</searchLink>; Department of Neurology, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat, Catalunya, Spain.<br /><searchLink fieldCode="AU" term="%22van+Doorn+PA%22">van Doorn PA</searchLink>; Department of Neurology, Erasmus MC, Rotterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Warrenburg+BP%22">Warrenburg BP</searchLink>; Department of Neurology, Radboudumc, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Cooper-Knock+J%22">Cooper-Knock J</searchLink>; Department of Neurology, Sheffield Institute for Translational Neuroscience (SITraN), Sheffield, South Yorkshire, UK.<br /><searchLink fieldCode="AU" term="%22Pasterkamp+RJ%22">Pasterkamp RJ</searchLink>; Department of Translational Neuroscience, UMC Utrecht, Utrecht, Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Rheenen+W%22">van Rheenen W</searchLink>; Department of Neurology, UMC Utrecht, Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Damme+P%22">van Damme P</searchLink>; Laboratory of Neurobiology, Department of Neuroscience, KU Leuven, Leuven, Belgium.; Department of Neurology, University Hospitals Leuven, Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22van+den+Berg+LH%22">van den Berg LH</searchLink>; Department of Neurology, UMC Utrecht, Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Veldink+JH%22">Veldink JH</searchLink>; Department of Neurology, UMC Utrecht, Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Es+MA%22">van Es MA</searchLink>; Department of Neurology, UMC Utrecht, Utrecht, the Netherlands.
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  Data: <searchLink fieldCode="JN" term="%22101775450%22">BMJ neurology open</searchLink> [BMJ Neurol Open] 2026 Feb 18; Vol. 8 (1), pp. e001417. <i>Date of Electronic Publication: </i>2026 Feb 18 (<i>Print Publication: </i>2026).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22British+Medical+Association%22">British Medical Association </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101775450 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>2632-6140 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2226326140%22">26326140 </searchLink><i>NLM ISO Abbreviation: </i>BMJ Neurol Open <i>Subsets: </i>PubMed not MEDLINE
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