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Hereditary transthyretin‐related amyloidosis.

Autor: Finsterer, Josef¹ fifigs1@yahoo.de, Iglseder, Stephan², Wanschitz, Julia³, Topakian, Raffi⁴, Löscher, Wolfgang N.³, Grisold, Wolfgang⁵

Publikováno v: Acta Neurologica Scandinavica. Feb2019, Vol. 139 Issue 2, p92-105. 14p.

The genetic landscape of axonal neuropathies in the middle-aged and elderly

Autor: Senderek, Jan, Lassuthova, Petra, Kabzińska, Dagmara, Abreu, Lisa, Baets, Jonathan, Beetz, Christian, Braathen, Geir J., Brenner, David, Dalton, Joline, Dankwa, Lois, Deconinck, Tine, De Jonghe, Peter, Dräger, Bianca, Eggermann, Katja, Ellis, Melina, Fischer, Carina, Stojkovic, Tanya, Herrmann, David N., Horvath, Rita, Høyer, Helle, Iglseder, Stephan, Kennerson, Marina, Kinslechner, Katharina, Kohler, Jennefer N., Kurth, Ingo, Laing, Nigel G., Lamont, Phillipa J., Wolfgang N., Löscher, Ludolph, Albert, Marques, Wilson, Nicholson, Garth, Ong, Royston, Petri, Susanne, Ravenscroft, Gianina, Rebelo, Adriana, Ricci, Giulia, Rudnik-Schöneborn, Sabine, Schirmacher, Anja, Schlotter-Weigel, Beate, Schoels, Ludger, Schüle, Rebecca, Synofzik, Matthis, Francou, Bruno, Strom, Tim M., Wagner, Johannes, Walk, David, Wanschitz, Julia, Weinmann, Daniela, Weishaupt, Jochen, Wiessner, Manuela, Windhager, Reinhard, Young, Peter, Züchner, Stephan, Toegel, Stefan, Seeman, Pavel, Kochański, Andrzej, Auer-Grumbach, Michaela

Publikováno v: Neurology

Objective To test the hypothesis that monogenic neuropathies such as Charcot-Marie-Tooth disease (CMT) contribute to frequent but often unexplained neuropathies in the elderly, we performed genetic analysis of 230 patients with unexplained axonal neu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2097::b68b629f7ad72959cf6af727a54d980f
https://hdl.handle.net/10067/1752480151162165141

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Long-Term Follow Up in Anti-Contactin-1 Autoimmune Nodopathy.

Autor: Caballero-Ávila M; Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Sant Pau Biomedical Research Institute (IIB Sant Pau), Universitat Autònoma de Barcelona, Barcelona, Spain., Martín-Aguilar L; Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Sant Pau Biomedical Research Institute (IIB Sant Pau), Universitat Autònoma de Barcelona, Barcelona, Spain., Pascual-Goñi E; Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Sant Pau Biomedical Research Institute (IIB Sant Pau), Universitat Autònoma de Barcelona, Barcelona, Spain., Michael MR; Department of Neurology, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands., Koel-Simmelink MJA; Neurochemistry Laboratory and Biobank, Department of Clinical Chemistry, Amsterdam UMC, Amsterdam, the Netherlands., Höftberger R; Division of Neuropathology and Neurochemistry, Department of Neurology, Medical University of Vienna, Vienna, Austria., Wanschitz J; Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria., Alonso-Jiménez A; Department of Neurology, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium., Armangué T; Neuroimmunology program, IDIBAPS-Hospital de Clinic; University of Barcelona. Pediatric Neuroimmunology Program, Neurology Department, Sant Joan de Deu Children's Hospital, Barcelona, Spain., Baars AE; Department of Neurology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands., Carbayo Á; Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Sant Pau Biomedical Research Institute (IIB Sant Pau), Universitat Autònoma de Barcelona, Barcelona, Spain., Castek B; Department of Neurology, Landeskrankenhaus Villach, Villach, Austria., Collet-Vidiella R; Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Sant Pau Biomedical Research Institute (IIB Sant Pau), Universitat Autònoma de Barcelona, Barcelona, Spain., De Winter J; Department of Neurology, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium., Del Real MÁ; Department of Neurology, General University Hospital of Ciudad Real, Ciudad Real, Spain., Delmont E; Referral Centre for Neuromuscular Diseases and ALS, Hospital La Timone, Marseille, France., Diamanti L; IRCCS Mondino Foundation, Pavia, Italy., Doneddu PE; Neuromuscular and Neuroimmunology Unit, IRCCS Humanitas Research Hospital, Rozzano, Department of Biomedical Sciences, Humanitas University, Milan, Italy., Hiew FL; Department of Neurology, Sunway Medical Center, Bandar Sunway, Malaysia., Gallardo E; Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Sant Pau Biomedical Research Institute (IIB Sant Pau), Universitat Autònoma de Barcelona, Barcelona, Spain.; Neuromuscular Diseases, Centro para la Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Madrid, Spain., Gonzalez A; Department of Neurology, University Hospital Cruces, Barakaldo, Spain., Grinzinger S; Department of Neurology, Christian-Doppler Klinik, Salzburg, Austria., Horga A; Department of Neurology, Neuromuscular Diseases Unit, University Hospital San Carlos, Madrid, Spain., Iglseder S; Department of Neurology, Krankenhaus Barmherzige Brüder, Linz, Austria., Jacobs BC; Department of Neurology, Erasmus MC, University Medical Center, Rotterdam, the Netherlands., Jauregui A; Department of Neurology, University Hospital Cruces, Barakaldo, Spain., Killestein J; Neurochemistry Laboratory and Biobank, Department of Clinical Chemistry, Amsterdam UMC, Amsterdam, the Netherlands., Pozza EL; Department of Neurology, Klinik Favoriten, Vienna, Austria., Martínez-Martínez L; Department of Immunology, Hospital de la Santa Creu i Sant Pau, Sant Pau Biomedical Research Institute (IIB Sant Pau), Universitat Autònoma de Barcelona, Barcelona, Spain., Nobile-Orazio E; Neuromuscular and Neuroimmunology Unit, IRCCS Humanitas Research Hospital, Rozzano, Department of Medical Biotechnology and Translational Medicine, Milan University, Milan, Italy., Ortiz N; Department of Neurology, University Hospital Sant Joan, Reus, Spain., Pérez-Pérez H; Department of Neurology, University Hospital of Canarias, Tenerife, Spain., Poppert KN; Department of Neurology, Christian-Doppler Klinik, Salzburg, Austria., Ripellino P; Department of Neurology, Neurocenter of Southern Switzerland EOC, Faculty of Biomedical Sciences, Università della Svizzera Italiana, Lugano, Switzerland., Roche JC; Department of Neurology, University Hospital Miguel Servet, Zaragoza, Spain., Rodriguez de Rivera FJ; Department of Neurology, Instituto de Investigación Sanitaria del Hospital Universitario La Paz-IdiPAZ, University Hospital La Paz, Universidad Autónoma de Madrid, Madrid, Spain., Rostasy K; Department of Pediatric Neurology, Children's Hospital Datteln, Witten/Herdecke University, Datteln, Germany., Sparasci D; Department of Neurology, Neurocenter of Southern Switzerland EOC, Faculty of Biomedical Sciences, Università della Svizzera Italiana, Lugano, Switzerland., Tejada-Illa C; Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Sant Pau Biomedical Research Institute (IIB Sant Pau), Universitat Autònoma de Barcelona, Barcelona, Spain., Teunissen CCE; Neurochemistry Laboratory and Biobank, Department of Clinical Chemistry, Amsterdam UMC, Amsterdam, the Netherlands., Vegezzi E; IRCCS Mondino Foundation, Pavia, Italy., Xuclà-Ferrarons T; Department of Neurology, Hospital Sant Joan Despí Moisès Broggi, Sant Joan Despí, Spain., Zach F; Department of Neurology, Kardinal Schwarzenberg Klinikum, Salzburg, Austria., Wieske L; Department of Neurology, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands., Eftimov F; Department of Neurology, Amsterdam UMC location University of Amsterdam, Amsterdam, the Netherlands., Lleixà C; Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Sant Pau Biomedical Research Institute (IIB Sant Pau), Universitat Autònoma de Barcelona, Barcelona, Spain.; Neuromuscular Diseases, Centro para la Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Madrid, Spain., Querol L; Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Sant Pau Biomedical Research Institute (IIB Sant Pau), Universitat Autònoma de Barcelona, Barcelona, Spain.; Neuromuscular Diseases, Centro para la Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Madrid, Spain.

Publikováno v: Annals of neurology [Ann Neurol] 2024 Nov 27. Date of Electronic Publication: 2024 Nov 27.