Erratum: EMQN Best Practice Guidelines for molecular genetic testing of SCAs (European Journal of Human Genetics)

Autor: Giunti P, Kämäräinen O, Volpini V, Weirich H, Christodoulou K, Bazak N, Sinke R, Sulek-Piatkowska A, Garcia-Planells J, Davis M, Frontali M, Hämäläinen P, Wieczorek S, Zühlke C, Saraiva-Pereira ML, Warner J, Leguern E, Thonney F, Quintáns Castro B, Jonasson J, Storm K, Andersson A, Ravani A, Correia L, Silveira I, Alonso I, Martins C, Pinto Basto J, Coutinho P, Perdigão A, Barton D, Davis M, European Molecular Quality Genetics Network .multiple author names added.

Publikováno v: European journal of human genetics 18 (2010): 1176–1177. doi:10.1038/ejhg.2010.152
info:cnr-pdr/source/autori:Giunti P, Kämäräinen O, Volpini V, Weirich H, Christodoulou K, Bazak N, Sinke R, Sulek-Piatkowska A, Garcia-Planells J, Davis M, Frontali M, Hämäläinen P, Wieczorek S, Zühlke C, Saraiva-Pereira ML, Warner J, Leguern E, Thonney F, Quintáns Castro B, Jonasson J, Storm K, Andersson A, Ravani A, Correia L, Silveira I, Alonso I, Martins C, Pinto Basto J, Coutinho P, Perdigão A, Barton D, Davis M; European Molecular Quality Genetics Network .multiple author names added./titolo:Erratum: EMQN Best Practice Guidelines for molecular genetic testing of SCAs (European Journal of Human Genetics)/doi:10.1038%2Fejhg.2010.152/rivista:European journal of human genetics/anno:2010/pagina_da:1176/pagina_a:1177/intervallo_pagine:1176–1177/volume:18

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=cnr_________::d31d1370dc7d5bd188efd9c20d1e15cf

Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings.

Autor: Trott, A, Jardim, LB, Ludwig, HT, Saute, JAM, Artigalás, O, Kieling, C, Wanderley, HYC, Rieder, CRM, Monte, TL, Socal, M, Alonso, I, Ferro, A, Carvalho, T, Moreira, M do Céu, Mendonç, P, Ferreirinha, F, Silveira, I, Sequeiros, J, Giugliani, R, Saraiva-Pereira, ML

Publikováno v: Clinical Genetics; Aug2006, Vol. 70 Issue 2, p173-176, 4p, 2 Charts

Akathisia: An unusual movement disorder in Machado-Joseph disease.

Autor: Pedroso JL (AUTHOR), Braga-Neto P (AUTHOR), Felício AC (AUTHOR), Barsottini OG (AUTHOR), Jardim LB (AUTHOR), Saraiva-Pereira ML (AUTHOR), Pedroso, José Luiz (AUTHOR), Braga-Neto, Pedro (AUTHOR), Felício, André C (AUTHOR), Barsottini, Orlando G P (AUTHOR), Jardim, Laura B (AUTHOR), Saraiva-Pereira, Maria Luiza (AUTHOR)

Publikováno v: Parkinsonism & Related Disorders. Nov2011, Vol. 17 Issue 9, p712-713. 2p.

The parkin V380L variant is a genetic modifier of Machado-Joseph disease with impact on mitophagy.

Autor: Weber JJ; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076, Tübingen, Germany.; Department of Human Genetics, Ruhr University Bochum, 44801, Bochum, Germany., Czisch L; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076, Tübingen, Germany., Pereira Sena P; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076, Tübingen, Germany., Fath F; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076, Tübingen, Germany.; Department of Human Genetics, Ruhr University Bochum, 44801, Bochum, Germany., Huridou C; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076, Tübingen, Germany.; Department of Human Genetics, Ruhr University Bochum, 44801, Bochum, Germany., Schwarz N; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076, Tübingen, Germany., Incebacak Eltemur RD; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076, Tübingen, Germany.; Department of Human Genetics, Ruhr University Bochum, 44801, Bochum, Germany., Würth A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076, Tübingen, Germany., Weishäupl D; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076, Tübingen, Germany., Döcker M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076, Tübingen, Germany., Blumenstock G; Department of Clinical Epidemiology and Applied Biometry, University of Tübingen, 72076, Tübingen, Germany., Martins S; i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135, Porto, Portugal.; IPATIMUP - Institute of Molecular Pathology and Immunology, University of Porto, 4200-135, Porto, Portugal., Sequeiros J; i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135, Porto, Portugal.; ICBAS School of Medicine and Biomedical Sciences, University of Porto, 4050-313, Porto, Portugal., Rouleau GA; Department of Neurology and Neurosurgery and The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, H3A 1A1, Canada., Jardim LB; Departamento de Medicina Interna, Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, 90035-903, Brazil.; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, 90035-903, Brazil., Saraiva-Pereira ML; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, 90035-903, Brazil.; Departamento de Bioquímica, Universidade Federal do Rio Grande do Sul, Porto Alegre, 90035-003, Brazil., França MC Jr; Universidade Estadual de Campinas (UNICAMP), Campinas, 13083-970, Brazil., Gordon CR; Department of Neurology, Tel Aviv University, 69978, Tel Aviv, Israel., Zaltzman R; Department of Neurology, Tel Aviv University, 69978, Tel Aviv, Israel., Cornejo-Olivas MR; Neurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, 15003, Lima, Peru.; Neurogenetics Working Group, Universidad Científica del Sur, 15067, Lima, Peru., van de Warrenburg BPC; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6525, Nijmegen, The Netherlands., Durr A; Department of Genetics and Cytogenetics, 4 AP-HP, Groupe Hospitalier Pitié-Salpêtrière, 75013, Paris, France.; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, University Hospital Pitié-Salpêtrière, 75013, Paris, France., Brice A; Department of Genetics and Cytogenetics, 4 AP-HP, Groupe Hospitalier Pitié-Salpêtrière, 75013, Paris, France.; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, University Hospital Pitié-Salpêtrière, 75013, Paris, France., Bauer P; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076, Tübingen, Germany.; Centogene GmbH, 18055, Rostock, Germany.; Clinic for Internal Medicine, Department of Hematology, Oncology, Palliative Medicine, University Medicine Rostock, 18057, Rostock, Germany., Klockgether T; German Center for Neurodegenerative Diseases (DZNE), 53127, Bonn, Germany.; Department of Neurology, University Hospital Bonn, 53127, Bonn, Germany., Schöls L; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076, Tübingen, Germany.; German Center of Neurodegenerative Diseases (DZNE), 72076, Tübingen, Germany., Riess O; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076, Tübingen, Germany., Schmidt T; Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076, Tübingen, Germany. thorsten.schmidt@med.uni-tuebingen.de.

Publikováno v: Acta neuropathologica [Acta Neuropathol] 2024 Aug 01; Vol. 148 (1), pp. 14. Date of Electronic Publication: 2024 Aug 01.

Cognitive-affective manifestations since premanifest phases of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease.

Autor: Bolzan G; Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Centros de Pesquisa Clínica e Experimental, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Müller Eyng ME; Faculdade de Medicina, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Leotti VB; Departmento de Estatística, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Programa de Pós-Graduação em Epidemiologia, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Saraiva-Pereira ML; Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Centros de Pesquisa Clínica e Experimental, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Departamento de Bioquímica, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Jardim LB; Programa de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Centros de Pesquisa Clínica e Experimental, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Departamento de Medicina Interna, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. Electronic address: ljardim@hcpa.edu.br.

Publikováno v: Cortex; a journal devoted to the study of the nervous system and behavior [Cortex] 2024 Feb; Vol. 171, pp. 370-382. Date of Electronic Publication: 2023 Nov 21.