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Analysis of short tandem repeats linked to polyglutamine diseases from whole-genome sequencing reveals intermediate alleles of HTT associated with an early disease onset in C9orf72 carriers.

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Title: Analysis of short tandem repeats linked to polyglutamine diseases from whole-genome sequencing reveals intermediate alleles of HTT associated with an early disease onset in C9orf72 carriers.
Authors: Barbier M; Sorbonne Université, Paris Brain Institute-Institut du Cerveau, ICM, Inserm U1127, CNRS UMR 7225 APHP-Hôpital Pitié-Salpêtrière, Paris 75013, France., Gareau T; Sorbonne Université, Paris Brain Institute-Institut du Cerveau, ICM, Inserm U1127, CNRS UMR 7225 APHP-Hôpital Pitié-Salpêtrière, Paris 75013, France., Camuzat A; Sorbonne Université, Paris Brain Institute-Institut du Cerveau, ICM, Inserm U1127, CNRS UMR 7225 APHP-Hôpital Pitié-Salpêtrière, Paris 75013, France., Guillaud-Bataille M; Department of Medical Genetics, AP-HP Sorbonne Université, UF de Neurogénétique Moléculaire et Cellulaire, Hôpital Pitié-Salpêtrière, Paris 75013, France., Boluda S; Sorbonne Université, Paris Brain Institute-Institut du Cerveau, ICM, Inserm U1127, CNRS UMR 7225 APHP-Hôpital Pitié-Salpêtrière, Paris 75013, France.; Department of Neuropathology, APHP-Hôpital de la Pitié-Salpêtrière, Sorbonne Université, Paris 75013, France., Clot F; Department of Medical Genetics, AP-HP Sorbonne Université, UF de Neurogénétique Moléculaire et Cellulaire, Hôpital Pitié-Salpêtrière, Paris 75013, France., Araktingi L; Sorbonne Université, Paris Brain Institute-Institut du Cerveau, ICM, Inserm U1127, CNRS UMR 7225 APHP-Hôpital Pitié-Salpêtrière, Paris 75013, France., Borroni B; Department of Clinical and Experimental Sciences, Centre for Neurodegenerative Disorders, University of Brescia, Brescia 25100, Italy.; Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia 25100, Italy., van der Zee J; Neurodegenerative Brain Diseases, VIB-UAntwerp Center for Molecular Neurology, VIB, Antwerp B-2610, Belgium.; Department of Biomedical Sciences, University of Antwerp, Antwerp 2000, Belgium., Ghidoni R; Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia 25100, Italy., Bellini S; Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia 25100, Italy., Galimberti D; Department of Biomedical, Surgical and Dental Sciences, University of Milan, Milan 20122, Italy.; Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan 20122, Italy., Rossi G; Unit of Neurology V and Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy., Nacmias B; Department of Neuroscience, Psychology, Drug Research and Child Health University of Florence Azienda Ospedaliero-Universitaria CareggiViale, Florence 50100, Italy.; IRCCS Fondazione Don Carlo Gnocchi, Florence 50100, Italy., De la Casa-Fages B; Neurology Department, Movement Disorders Unit, Hospital General Universitario Gregorio Maranon, Madrid 28007, Spain., Pastor P; Department of Neurology, Unit of Neurodegenerative Diseases, University Hospital Germans Trias i Pujol and The Germans Trias i Pujol Research Institute (IGTP) Badalona, Barcelona 08916, Spain., Latouche M; Sorbonne Université, Paris Brain Institute-Institut du Cerveau, ICM, Inserm U1127, CNRS UMR 7225 APHP-Hôpital Pitié-Salpêtrière, Paris 75013, France.; PSL Research University, EPHE, Paris 75014, France., le Guern E; Department of Medical Genetics, AP-HP Sorbonne Université, UF de Neurogénétique Moléculaire et Cellulaire, Hôpital Pitié-Salpêtrière, Paris 75013, France., Durr A; Sorbonne Université, Paris Brain Institute-Institut du Cerveau, ICM, Inserm U1127, CNRS UMR 7225 APHP-Hôpital Pitié-Salpêtrière, Paris 75013, France., Laquerrière A; Department of Pathology, Normandie Université, INSERM U1245, Rouen University Hospital, Rouen 76000, France., Moccia R; Rare Disease Research Unit, Pfizer Inc., Cambridge, MA 02139, USA., Seilhean D; Sorbonne Université, Paris Brain Institute-Institut du Cerveau, ICM, Inserm U1127, CNRS UMR 7225 APHP-Hôpital Pitié-Salpêtrière, Paris 75013, France.; Department of Neuropathology, APHP-Hôpital de la Pitié-Salpêtrière, Sorbonne Université, Paris 75013, France., Alvarez V; Laboratory of Genetics, Hospital Universitario Central de Asturias, Oviedo 33011, Spain.; Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo 33011, Spain., Le Ber I; Sorbonne Université, Paris Brain Institute-Institut du Cerveau, ICM, Inserm U1127, CNRS UMR 7225 APHP-Hôpital Pitié-Salpêtrière, DMU Neuroscience, Paris 75013, France.; Département de Neurologie, Center for Rare or Early-Onset Dementias, IM2A, AP-HP-Hôpital Pitié-Salpêtrière, Paris 75013, France.
Corporate Authors: French Clinical and Genetic Research Network on FTD/FTD-ALS and PrevDemALS Study Groups
Source: Brain communications [Brain Commun] 2025 Jun 04; Vol. 7 (3), pp. fcaf220. Date of Electronic Publication: 2025 Jun 04 (Print Publication: 2025).
Publication Type: Journal Article
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Analysis of short tandem repeats linked to polyglutamine diseases from whole-genome sequencing reveals intermediate alleles of HTT associated with an early disease onset in C9orf72 carriers.
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Sorbonne Université, Paris Brain Institute-Institut du Cerveau, ICM, Inserm U1127, CNRS UMR 7225 APHP-Hôpital Pitié-Salpêtrière, Paris 75013, France.; Department of Neuropathology, APHP-Hôpital de la Pitié-Salpêtrière, Sorbonne Université, Paris 75013, France.<br /><searchLink fieldCode="AU" term="%22Clot+F%22">Clot F</searchLink>; Department of Medical Genetics, AP-HP Sorbonne Université, UF de Neurogénétique Moléculaire et Cellulaire, Hôpital Pitié-Salpêtrière, Paris 75013, France.<br /><searchLink fieldCode="AU" term="%22Araktingi+L%22">Araktingi L</searchLink>; Sorbonne Université, Paris Brain Institute-Institut du Cerveau, ICM, Inserm U1127, CNRS UMR 7225 APHP-Hôpital Pitié-Salpêtrière, Paris 75013, France.<br /><searchLink fieldCode="AU" term="%22Borroni+B%22">Borroni B</searchLink>; Department of Clinical and Experimental Sciences, Centre for Neurodegenerative Disorders, University of Brescia, Brescia 25100, Italy.; Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia 25100, Italy.<br /><searchLink fieldCode="AU" term="%22van+der+Zee+J%22">van der Zee J</searchLink>; 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Department of Neuroscience, Psychology, Drug Research and Child Health University of Florence Azienda Ospedaliero-Universitaria CareggiViale, Florence 50100, Italy.; IRCCS Fondazione Don Carlo Gnocchi, Florence 50100, Italy.<br /><searchLink fieldCode="AU" term="%22De+la+Casa-Fages+B%22">De la Casa-Fages B</searchLink>; Neurology Department, Movement Disorders Unit, Hospital General Universitario Gregorio Maranon, Madrid 28007, Spain.<br /><searchLink fieldCode="AU" term="%22Pastor+P%22">Pastor P</searchLink>; Department of Neurology, Unit of Neurodegenerative Diseases, University Hospital Germans Trias i Pujol and The Germans Trias i Pujol Research Institute (IGTP) Badalona, Barcelona 08916, Spain.<br /><searchLink fieldCode="AU" term="%22Latouche+M%22">Latouche M</searchLink>; Sorbonne Université, Paris Brain Institute-Institut du Cerveau, ICM, Inserm U1127, CNRS UMR 7225 APHP-Hôpital Pitié-Salpêtrière, Paris 75013, France.; PSL Research University, EPHE, Paris 75014, France.<br /><searchLink fieldCode="AU" term="%22le+Guern+E%22">le Guern E</searchLink>; 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