Association of rare apolipoprotein E ε4 homozygosity with an earlier age at onset in spinocerebellar ataxia type 3.

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Title: Association of rare apolipoprotein E ε4 homozygosity with an earlier age at onset in spinocerebellar ataxia type 3.
Authors: Meyer CC; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Calwerstrasse 7, 72076 Tübingen, Baden-Württemberg, Germany., de Mattos EP; Centros de Pesquisa Clínica e Experimental, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350 - CEP 90035-903, Porto Alegre, RS, Brazil.; Departamento de Bioquímica, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, 2600 - Anexo - CEP 90035-003, Porto Alegre, RS, Brazil., Burger RM; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Calwerstrasse 7, 72076 Tübingen, Baden-Württemberg, Germany., Blumenstock G; Department of Clinical Epidemiology and Applied Biometry, University of Tübingen, Silcherstrasse 5, 72076 Tübingen, Baden-Württemberg, Germany., Pereira Sena P; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Calwerstrasse 7, 72076 Tübingen, Baden-Württemberg, Germany., Gordon C; Department of Neurology, Meir Medical Center, Tel Aviv University, 59 Tchernichovsky Street, Kfar Saba 44281, Israel., Zaltzman R; Department of Neurology, Meir Medical Center, Tel Aviv University, 59 Tchernichovsky Street, Kfar Saba 44281, Israel., França MC Jr; Department of Neurology, School of Medical Sciences, Universidade Estadual de Campinas (UNICAMP), Rua Tessalia Vieira de Camargo, 126 - Cidade Universitária, Campinas, CEP 13083-887, São Paulo, Brazil., Saraiva-Pereira ML; Centros de Pesquisa Clínica e Experimental, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350 - CEP 90035-903, Porto Alegre, RS, Brazil.; Departamento de Bioquímica, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, 2600 - Anexo - CEP 90035-003, Porto Alegre, RS, Brazil.; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350 - CEP 90035-903, Porto Alegre, RS, Brazil., Cornejo-Olivas MR; Neurogenetics Working Group, Universidad Cientifica del Sur, Panamerica Sur Km 19, Lima, 15067, Peru.; Neurogenetics Research Center, Instituto Nacional de Ciencias Neurologicas, Jr. Áncash 1271, Lima, 15003, Peru., Bauer P; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Calwerstrasse 7, 72076 Tübingen, Baden-Württemberg, Germany.; Centogene GmbH, Am Strande 7, 18055 Rostock, Mecklenburg-Vorpommern, Germany.; Pomeranian Medical University, Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases, Cardiology, and Rare Diseases, Rybacka 1, 70-204 Szczecin, Poland., Schöls L; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Hoppe-Seyler Str. 3, 72076 Tübingen, Baden-Württemberg, Germany.; German Center for Neurodegenerative Diseases (DZNE), Otfried-Müller Str. 23, 72076 Tübingen, Baden-Württemberg, Germany., van de Warrenburg BP; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Geert Grooteplein Zuid 10, Nijmegen, 6525 GA, Netherlands., Durr A; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, INSERM, CNRS, 47 boulevard de l'hôpital, 75013 Paris, France.; National Reference Center for Rare Diseases 'Neurogenetics', Pitié-Salpêtrière University Hospital, 47 boulevard de l'hôpital, 75013 Paris, France., Brice A; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, INSERM, CNRS, 47 boulevard de l'hôpital, 75013 Paris, France.; National Reference Center for Rare Diseases 'Neurogenetics', Pitié-Salpêtrière University Hospital, 47 boulevard de l'hôpital, 75013 Paris, France., Klockgether T; German Center for Neurodegenerative Diseases (DZNE), Venusberg-Campus 1, 53127 Bonn, Nordrhein-Westfalen, Germany., Jardim LB; Centros de Pesquisa Clínica e Experimental, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350 - CEP 90035-903, Porto Alegre, RS, Brazil.; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350 - CEP 90035-903, Porto Alegre, RS, Brazil.; Departamento de Medicina Interna, Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos 2400, 90035-003, Porto Alegre, RS, Brazil., Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Calwerstrasse 7, 72076 Tübingen, Baden-Württemberg, Germany., Schmidt T; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Calwerstrasse 7, 72076 Tübingen, Baden-Württemberg, Germany.
Corporate Authors: EUROSCA Network
Source: Human molecular genetics [Hum Mol Genet] 2026 Feb 23; Vol. 35 (5).
Publication Type: Journal Article
Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Association of rare apolipoprotein E ε4 homozygosity with an earlier age at onset in spinocerebellar ataxia type 3.
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  Data: <searchLink fieldCode="AU" term="%22Meyer+CC%22">Meyer CC</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Calwerstrasse 7, 72076 Tübingen, Baden-Württemberg, Germany.<br /><searchLink fieldCode="AU" term="%22de+Mattos+EP%22">de Mattos EP</searchLink>; Centros de Pesquisa Clínica e Experimental, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350 - CEP 90035-903, Porto Alegre, RS, Brazil.; Departamento de Bioquímica, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, 2600 - Anexo - CEP 90035-003, Porto Alegre, RS, Brazil.<br /><searchLink fieldCode="AU" term="%22Burger+RM%22">Burger RM</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Calwerstrasse 7, 72076 Tübingen, Baden-Württemberg, Germany.<br /><searchLink fieldCode="AU" term="%22Blumenstock+G%22">Blumenstock G</searchLink>; Department of Clinical Epidemiology and Applied Biometry, University of Tübingen, Silcherstrasse 5, 72076 Tübingen, Baden-Württemberg, Germany.<br /><searchLink fieldCode="AU" term="%22Pereira+Sena+P%22">Pereira Sena P</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Calwerstrasse 7, 72076 Tübingen, Baden-Württemberg, Germany.<br /><searchLink fieldCode="AU" term="%22Gordon+C%22">Gordon C</searchLink>; Department of Neurology, Meir Medical Center, Tel Aviv University, 59 Tchernichovsky Street, Kfar Saba 44281, Israel.<br /><searchLink fieldCode="AU" term="%22Zaltzman+R%22">Zaltzman R</searchLink>; Department of Neurology, Meir Medical Center, Tel Aviv University, 59 Tchernichovsky Street, Kfar Saba 44281, Israel.<br /><searchLink fieldCode="AU" term="%22França+MC+Jr%22">França MC Jr</searchLink>; Department of Neurology, School of Medical Sciences, Universidade Estadual de Campinas (UNICAMP), Rua Tessalia Vieira de Camargo, 126 - Cidade Universitária, Campinas, CEP 13083-887, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Saraiva-Pereira+ML%22">Saraiva-Pereira ML</searchLink>; Centros de Pesquisa Clínica e Experimental, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350 - CEP 90035-903, Porto Alegre, RS, Brazil.; Departamento de Bioquímica, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos, 2600 - Anexo - CEP 90035-003, Porto Alegre, RS, Brazil.; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350 - CEP 90035-903, Porto Alegre, RS, Brazil.<br /><searchLink fieldCode="AU" term="%22Cornejo-Olivas+MR%22">Cornejo-Olivas MR</searchLink>; Neurogenetics Working Group, Universidad Cientifica del Sur, Panamerica Sur Km 19, Lima, 15067, Peru.; Neurogenetics Research Center, Instituto Nacional de Ciencias Neurologicas, Jr. Áncash 1271, Lima, 15003, Peru.<br /><searchLink fieldCode="AU" term="%22Bauer+P%22">Bauer P</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Calwerstrasse 7, 72076 Tübingen, Baden-Württemberg, Germany.; Centogene GmbH, Am Strande 7, 18055 Rostock, Mecklenburg-Vorpommern, Germany.; Pomeranian Medical University, Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases, Cardiology, and Rare Diseases, Rybacka 1, 70-204 Szczecin, Poland.<br /><searchLink fieldCode="AU" term="%22Schöls+L%22">Schöls L</searchLink>; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Hoppe-Seyler Str. 3, 72076 Tübingen, Baden-Württemberg, Germany.; German Center for Neurodegenerative Diseases (DZNE), Otfried-Müller Str. 23, 72076 Tübingen, Baden-Württemberg, Germany.<br /><searchLink fieldCode="AU" term="%22van+de+Warrenburg+BP%22">van de Warrenburg BP</searchLink>; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Geert Grooteplein Zuid 10, Nijmegen, 6525 GA, Netherlands.<br /><searchLink fieldCode="AU" term="%22Durr+A%22">Durr A</searchLink>; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, INSERM, CNRS, 47 boulevard de l'hôpital, 75013 Paris, France.; National Reference Center for Rare Diseases 'Neurogenetics', Pitié-Salpêtrière University Hospital, 47 boulevard de l'hôpital, 75013 Paris, France.<br /><searchLink fieldCode="AU" term="%22Brice+A%22">Brice A</searchLink>; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, INSERM, CNRS, 47 boulevard de l'hôpital, 75013 Paris, France.; National Reference Center for Rare Diseases 'Neurogenetics', Pitié-Salpêtrière University Hospital, 47 boulevard de l'hôpital, 75013 Paris, France.<br /><searchLink fieldCode="AU" term="%22Klockgether+T%22">Klockgether T</searchLink>; German Center for Neurodegenerative Diseases (DZNE), Venusberg-Campus 1, 53127 Bonn, Nordrhein-Westfalen, Germany.<br /><searchLink fieldCode="AU" term="%22Jardim+LB%22">Jardim LB</searchLink>; Centros de Pesquisa Clínica e Experimental, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350 - CEP 90035-903, Porto Alegre, RS, Brazil.; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350 - CEP 90035-903, Porto Alegre, RS, Brazil.; Departamento de Medicina Interna, Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos 2400, 90035-003, Porto Alegre, RS, Brazil.<br /><searchLink fieldCode="AU" term="%22Riess+O%22">Riess O</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Calwerstrasse 7, 72076 Tübingen, Baden-Württemberg, Germany.<br /><searchLink fieldCode="AU" term="%22Schmidt+T%22">Schmidt T</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Calwerstrasse 7, 72076 Tübingen, Baden-Württemberg, Germany.
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