Acute carotid obliteration: a new vascular manifestation in POEMS syndrome

Autor: N. Aymerich, J. Gállego, G. Soriano, J.A. Villanueva, F. Lacruz, Erro Me, T. Ayuso

Publikováno v: European journal of neurology. 10(4)

The case of a 65-year-old woman with polyneuropathy, organomegaly, skin changes and monoclonal gammopathy of IgG-lambda type is described. This patient developed an acute carotid obliteration during oral anticoagulation and despite absence of vascula

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e248aa19a57d4c7902c3667c834f693
https://pubmed.ncbi.nlm.nih.gov/12823489

Novel tau filament folds in individuals with MAPT mutations P301L and P301T.

Autor: Schweighauser M; MRC Laboratory of Molecular Biology, Cambridge, UK.; These authors contributed equally., Shi Y; MRC Laboratory of Molecular Biology, Cambridge, UK.; Department of Pathology of the First Affiliated Hospital and School of Brain Science, Zhejiang University, Hangzhou, China.; These authors contributed equally., Murzin AG; MRC Laboratory of Molecular Biology, Cambridge, UK.; These authors contributed equally., Garringer HJ; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, USA., Vidal R; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, USA., Murrell JR; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, USA.; Department of Pathology and Laboratory Medicine, Children's Hospital of the University of Pennsylvania, Philadelphia, USA., Erro ME; Department of Neurology, Hospital Universitario de Navarra, Brain Bank NavarraBiomed, Pamplona, Spain., Seelaar H; Department of Neurology, Erasmus University, Rotterdam, The Netherlands., Ferrer I; Department of Pathology and Experimental Therapeutics, University of Barcelona, Spain., van Swieten JC; Department of Neurology, Erasmus University, Rotterdam, The Netherlands., Ghetti B; Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, USA., Scheres SHW; MRC Laboratory of Molecular Biology, Cambridge, UK.; These authors jointly supervised the work., Goedert M; MRC Laboratory of Molecular Biology, Cambridge, UK.; These authors jointly supervised the work.

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2024 Aug 17. Date of Electronic Publication: 2024 Aug 17.

Association of Blood-Based DNA Methylation Markers With Late-Onset Alzheimer Disease: A Potential Diagnostic Approach.

Autor: Acha B; From the Navarrabiomed (B.A., J.S.-R.d.G., C.C., M. Robles, I.M.-L., M.M., S.Z., M. Roldan, A.U.-C., I.J., M.E.E., I.B.-L., M.M.), Hospital Universitario de Navarra-IdiSNA (Navarra Institute for Health Research), Universidad Pública de Navarra (UPNA); Departments of Neurology (J.C., J.S.-R.d.G., C.C., I.J., M.E.E., M.M.) and Internal Medicine (I.M.-L.), Hospital Universitario de Navarra-IdiSNA (Navarra Institute for Health Research), Pamplona; Department of Neurology (D.A., A.L.), Institut d'Investigacions Biomèdiques Sant Pau (IIB Sant Pau), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Catalunya; and Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (D.A., A.L.), CIBERNED, Madrid, Spain., Corroza J; From the Navarrabiomed (B.A., J.S.-R.d.G., C.C., M. Robles, I.M.-L., M.M., S.Z., M. Roldan, A.U.-C., I.J., M.E.E., I.B.-L., M.M.), Hospital Universitario de Navarra-IdiSNA (Navarra Institute for Health Research), Universidad Pública de Navarra (UPNA); Departments of Neurology (J.C., J.S.-R.d.G., C.C., I.J., M.E.E., M.M.) and Internal Medicine (I.M.-L.), Hospital Universitario de Navarra-IdiSNA (Navarra Institute for Health Research), Pamplona; Department of Neurology (D.A., A.L.), Institut d'Investigacions Biomèdiques Sant Pau (IIB Sant Pau), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Catalunya; and Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (D.A., A.L.), CIBERNED, Madrid, Spain., Sánchez-Ruiz de Gordoa J; From the Navarrabiomed (B.A., J.S.-R.d.G., C.C., M. Robles, I.M.-L., M.M., S.Z., M. Roldan, A.U.-C., I.J., M.E.E., I.B.-L., M.M.), Hospital Universitario de Navarra-IdiSNA (Navarra Institute for Health Research), Universidad Pública de Navarra (UPNA); Departments of Neurology (J.C., J.S.-R.d.G., C.C., I.J., M.E.E., M.M.) and Internal Medicine (I.M.-L.), Hospital Universitario de Navarra-IdiSNA (Navarra Institute for Health Research), Pamplona; Department of Neurology (D.A., A.L.), Institut d'Investigacions Biomèdiques Sant Pau (IIB Sant Pau), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Catalunya; and Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (D.A., A.L.), CIBERNED, Madrid, Spain., Cabello C; From the Navarrabiomed (B.A., J.S.-R.d.G., C.C., M. Robles, I.M.-L., M.M., S.Z., M. Roldan, A.U.-C., I.J., M.E.E., I.B.-L., M.M.), Hospital Universitario de Navarra-IdiSNA (Navarra Institute for Health Research), Universidad Pública de Navarra (UPNA); Departments of Neurology (J.C., J.S.-R.d.G., C.C., I.J., M.E.E., M.M.) and Internal Medicine (I.M.-L.), Hospital Universitario de Navarra-IdiSNA (Navarra Institute for Health Research), Pamplona; Department of Neurology (D.A., A.L.), Institut d'Investigacions Biomèdiques Sant Pau (IIB Sant Pau), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Catalunya; and Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (D.A., A.L.), CIBERNED, Madrid, Spain., Robles M; From the Navarrabiomed (B.A., J.S.-R.d.G., C.C., M. Robles, I.M.-L., M.M., S.Z., M. Roldan, A.U.-C., I.J., M.E.E., I.B.-L., M.M.), Hospital Universitario de Navarra-IdiSNA (Navarra Institute for Health Research), Universidad Pública de Navarra (UPNA); Departments of Neurology (J.C., J.S.-R.d.G., C.C., I.J., M.E.E., M.M.) and Internal Medicine (I.M.-L.), Hospital Universitario de Navarra-IdiSNA (Navarra Institute for Health Research), Pamplona; Department of Neurology (D.A., A.L.), Institut d'Investigacions Biomèdiques Sant Pau (IIB Sant Pau), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Catalunya; and Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (D.A., A.L.), CIBERNED, Madrid, Spain., Méndez-López I; From the Navarrabiomed (B.A., J.S.-R.d.G., C.C., M. Robles, I.M.-L., M.M., S.Z., M. Roldan, A.U.-C., I.J., M.E.E., I.B.-L., M.M.), Hospital Universitario de Navarra-IdiSNA (Navarra Institute for Health Research), Universidad Pública de Navarra (UPNA); Departments of Neurology (J.C., J.S.-R.d.G., C.C., I.J., M.E.E., M.M.) and Internal Medicine (I.M.-L.), Hospital Universitario de Navarra-IdiSNA (Navarra Institute for Health Research), Pamplona; Department of Neurology (D.A., A.L.), Institut d'Investigacions Biomèdiques Sant Pau (IIB Sant Pau), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Catalunya; and Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (D.A., A.L.), CIBERNED, Madrid, Spain., Macías M; From the Navarrabiomed (B.A., J.S.-R.d.G., C.C., M. Robles, I.M.-L., M.M., S.Z., M. Roldan, A.U.-C., I.J., M.E.E., I.B.-L., M.M.), Hospital Universitario de Navarra-IdiSNA (Navarra Institute for Health Research), Universidad Pública de Navarra (UPNA); Departments of Neurology (J.C., J.S.-R.d.G., C.C., I.J., M.E.E., M.M.) and Internal Medicine (I.M.-L.), Hospital Universitario de Navarra-IdiSNA (Navarra Institute for Health Research), Pamplona; Department of Neurology (D.A., A.L.), Institut d'Investigacions Biomèdiques Sant Pau (IIB Sant Pau), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Catalunya; and Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (D.A., A.L.), CIBERNED, Madrid, Spain., Zueco S; From the Navarrabiomed (B.A., J.S.-R.d.G., C.C., M. Robles, I.M.-L., M.M., S.Z., M. Roldan, A.U.-C., I.J., M.E.E., I.B.-L., M.M.), Hospital Universitario de Navarra-IdiSNA (Navarra Institute for Health Research), Universidad Pública de Navarra (UPNA); Departments of Neurology (J.C., J.S.-R.d.G., C.C., I.J., M.E.E., M.M.) and Internal Medicine (I.M.-L.), Hospital Universitario de Navarra-IdiSNA (Navarra Institute for Health Research), Pamplona; Department of Neurology (D.A., A.L.), Institut d'Investigacions Biomèdiques Sant Pau (IIB Sant Pau), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Catalunya; and Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (D.A., A.L.), CIBERNED, Madrid, Spain., Roldan M; From the Navarrabiomed (B.A., J.S.-R.d.G., C.C., M. Robles, I.M.-L., M.M., S.Z., M. Roldan, A.U.-C., I.J., M.E.E., I.B.-L., M.M.), Hospital Universitario de Navarra-IdiSNA (Navarra Institute for Health Research), Universidad Pública de Navarra (UPNA); Departments of Neurology (J.C., J.S.-R.d.G., C.C., I.J., M.E.E., M.M.) and Internal Medicine (I.M.-L.), Hospital Universitario de Navarra-IdiSNA (Navarra Institute for Health Research), Pamplona; Department of Neurology (D.A., A.L.), Institut d'Investigacions Biomèdiques Sant Pau (IIB Sant Pau), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Catalunya; and Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (D.A., A.L.), CIBERNED, Madrid, Spain., Urdánoz-Casado A; From the Navarrabiomed (B.A., J.S.-R.d.G., C.C., M. Robles, I.M.-L., M.M., S.Z., M. Roldan, A.U.-C., I.J., M.E.E., I.B.-L., M.M.), Hospital Universitario de Navarra-IdiSNA (Navarra Institute for Health Research), Universidad Pública de Navarra (UPNA); Departments of Neurology (J.C., J.S.-R.d.G., C.C., I.J., M.E.E., M.M.) and Internal Medicine (I.M.-L.), Hospital Universitario de Navarra-IdiSNA (Navarra Institute for Health Research), Pamplona; Department of Neurology (D.A., A.L.), Institut d'Investigacions Biomèdiques Sant Pau (IIB Sant Pau), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Catalunya; and Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (D.A., A.L.), CIBERNED, Madrid, Spain., Jericó I; From the Navarrabiomed (B.A., J.S.-R.d.G., C.C., M. Robles, I.M.-L., M.M., S.Z., M. Roldan, A.U.-C., I.J., M.E.E., I.B.-L., M.M.), Hospital Universitario de Navarra-IdiSNA (Navarra Institute for Health Research), Universidad Pública de Navarra (UPNA); Departments of Neurology (J.C., J.S.-R.d.G., C.C., I.J., M.E.E., M.M.) and Internal Medicine (I.M.-L.), Hospital Universitario de Navarra-IdiSNA (Navarra Institute for Health Research), Pamplona; Department of Neurology (D.A., A.L.), Institut d'Investigacions Biomèdiques Sant Pau (IIB Sant Pau), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Catalunya; and Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (D.A., A.L.), CIBERNED, Madrid, Spain., Erro ME; From the Navarrabiomed (B.A., J.S.-R.d.G., C.C., M. Robles, I.M.-L., M.M., S.Z., M. Roldan, A.U.-C., I.J., M.E.E., I.B.-L., M.M.), Hospital Universitario de Navarra-IdiSNA (Navarra Institute for Health Research), Universidad Pública de Navarra (UPNA); Departments of Neurology (J.C., J.S.-R.d.G., C.C., I.J., M.E.E., M.M.) and Internal Medicine (I.M.-L.), Hospital Universitario de Navarra-IdiSNA (Navarra Institute for Health Research), Pamplona; Department of Neurology (D.A., A.L.), Institut d'Investigacions Biomèdiques Sant Pau (IIB Sant Pau), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Catalunya; and Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (D.A., A.L.), CIBERNED, Madrid, Spain., Alcolea D; From the Navarrabiomed (B.A., J.S.-R.d.G., C.C., M. Robles, I.M.-L., M.M., S.Z., M. Roldan, A.U.-C., I.J., M.E.E., I.B.-L., M.M.), Hospital Universitario de Navarra-IdiSNA (Navarra Institute for Health Research), Universidad Pública de Navarra (UPNA); Departments of Neurology (J.C., J.S.-R.d.G., C.C., I.J., M.E.E., M.M.) and Internal Medicine (I.M.-L.), Hospital Universitario de Navarra-IdiSNA (Navarra Institute for Health Research), Pamplona; Department of Neurology (D.A., A.L.), Institut d'Investigacions Biomèdiques Sant Pau (IIB Sant Pau), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Catalunya; and Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (D.A., A.L.), CIBERNED, Madrid, Spain., Lleo A; From the Navarrabiomed (B.A., J.S.-R.d.G., C.C., M. Robles, I.M.-L., M.M., S.Z., M. Roldan, A.U.-C., I.J., M.E.E., I.B.-L., M.M.), Hospital Universitario de Navarra-IdiSNA (Navarra Institute for Health Research), Universidad Pública de Navarra (UPNA); Departments of Neurology (J.C., J.S.-R.d.G., C.C., I.J., M.E.E., M.M.) and Internal Medicine (I.M.-L.), Hospital Universitario de Navarra-IdiSNA (Navarra Institute for Health Research), Pamplona; Department of Neurology (D.A., A.L.), Institut d'Investigacions Biomèdiques Sant Pau (IIB Sant Pau), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Catalunya; and Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (D.A., A.L.), CIBERNED, Madrid, Spain., Blanco-Luquin I; From the Navarrabiomed (B.A., J.S.-R.d.G., C.C., M. Robles, I.M.-L., M.M., S.Z., M. Roldan, A.U.-C., I.J., M.E.E., I.B.-L., M.M.), Hospital Universitario de Navarra-IdiSNA (Navarra Institute for Health Research), Universidad Pública de Navarra (UPNA); Departments of Neurology (J.C., J.S.-R.d.G., C.C., I.J., M.E.E., M.M.) and Internal Medicine (I.M.-L.), Hospital Universitario de Navarra-IdiSNA (Navarra Institute for Health Research), Pamplona; Department of Neurology (D.A., A.L.), Institut d'Investigacions Biomèdiques Sant Pau (IIB Sant Pau), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Catalunya; and Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (D.A., A.L.), CIBERNED, Madrid, Spain., Mendioroz M; From the Navarrabiomed (B.A., J.S.-R.d.G., C.C., M. Robles, I.M.-L., M.M., S.Z., M. Roldan, A.U.-C., I.J., M.E.E., I.B.-L., M.M.), Hospital Universitario de Navarra-IdiSNA (Navarra Institute for Health Research), Universidad Pública de Navarra (UPNA); Departments of Neurology (J.C., J.S.-R.d.G., C.C., I.J., M.E.E., M.M.) and Internal Medicine (I.M.-L.), Hospital Universitario de Navarra-IdiSNA (Navarra Institute for Health Research), Pamplona; Department of Neurology (D.A., A.L.), Institut d'Investigacions Biomèdiques Sant Pau (IIB Sant Pau), Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Catalunya; and Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (D.A., A.L.), CIBERNED, Madrid, Spain. tmendioi@navarra.es.

Publikováno v: Neurology [Neurology] 2023 Dec 04; Vol. 101 (23), pp. e2434-e2447. Date of Electronic Publication: 2023 Dec 04.

Neurologic complications in herpes simplex encephalitis: clinical, immunological and genetic studies.

Autor: Armangué T; Neuroimmunology Program, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic, Universitat de Barcelona, 08036 Barcelona, Spain.; Pediatric Neuroimmunology Unit, Neurology Department, Sant Joan de Déu Children's Hospital, University of Barcelona, 08950 Esplugues de Llobregat, Barcelona, Spain., Olivé-Cirera G; Neuroimmunology Program, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic, Universitat de Barcelona, 08036 Barcelona, Spain.; Pediatric Neurology Unit, Parc Taulí Hospital Universitari, 08208 Sabadell, Barcelona, Spain., Martínez-Hernandez E; Neuroimmunology Program, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic, Universitat de Barcelona, 08036 Barcelona, Spain.; Neuroimmunology Unit, Service of Neurology, Hospital Clínic, Universitat de Barcelona, 08036 Barcelona, Spain., Rodes M; Neuroimmunology Program, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic, Universitat de Barcelona, 08036 Barcelona, Spain., Peris-Sempere V; Center for Sleep Science and Medicine, Stanford University, Stanford, CA 94304, USA., Guasp M; Neuroimmunology Program, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic, Universitat de Barcelona, 08036 Barcelona, Spain.; Neuroimmunology Unit, Service of Neurology, Hospital Clínic, Universitat de Barcelona, 08036 Barcelona, Spain., Ruiz R; Immunology Department, Hospital Clínic, Centre de Diagnòstic Biomèdic, 08036 Barcelona, Spain., Palou E; Immunology Department, Hospital Clínic, Centre de Diagnòstic Biomèdic, 08036 Barcelona, Spain., González A; Immunology Department, Hospital Clínic, Centre de Diagnòstic Biomèdic, 08036 Barcelona, Spain., Marcos MÁ; Service of Microbiology, Hospital Clínic, Centre de Diagnòstic Biomèdic, 08036 Barcelona, Spain.; ISGlobal Barcelona Institute for Global Health, 08036 Barcelona, Spain.; CIBER de Enfermedades Infecciosas (CIBERINFEC), Instituto de Salud Carlos III, 28222 Madrid, Spain., Erro ME; Department of Neurology, Hospital Universitario de Navarra, 31008 Pamplona, Spain., Bataller L; Department of Neurology, Hospital Universitari i Politècnic La Fe, 46026 Valencia, Spain., Corral-Corral Í; Department of Neurology, Hospital Universitario Ramon y Cajal, 28034 Madrid, Spain., Planagumà J; Neuroimmunology Program, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic, Universitat de Barcelona, 08036 Barcelona, Spain., Caballero E; Neuroimmunology Program, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic, Universitat de Barcelona, 08036 Barcelona, Spain., Vlagea A; Immunology Department, Hospital Clínic, Centre de Diagnòstic Biomèdic, 08036 Barcelona, Spain., Chen J; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA., Bastard P; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163 Necker Hospital for Sick Children, 75015 Paris, France.; Paris City University, Imagine Institute, 75015 Paris, France.; Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France., Materna M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163 Necker Hospital for Sick Children, 75015 Paris, France.; Paris City University, Imagine Institute, 75015 Paris, France., Marchal A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163 Necker Hospital for Sick Children, 75015 Paris, France.; Paris City University, Imagine Institute, 75015 Paris, France., Abel L; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163 Necker Hospital for Sick Children, 75015 Paris, France.; Paris City University, Imagine Institute, 75015 Paris, France., Cobat A; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163 Necker Hospital for Sick Children, 75015 Paris, France.; Paris City University, Imagine Institute, 75015 Paris, France., Alsina L; Clinical Immunology and Primary Immunodeficiencies Unit, Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu, 08950 Barcelona, Spain.; Department of Pediatrics, Universitat de Barcelona, 08036 Barcelona, Spain.; Study Group for Immune Disfunction Diseases in Children, Institut de Recerca Sant Joan de Déu (IRSJD), 08950 Esplugues de Llobregat, Barcelona, Spain., Fortuny C; Department of Pediatrics, Universitat de Barcelona, 08036 Barcelona, Spain.; Infectious Diseases Department, Institut de Recerca Sant Joan de Déu (IRSJD), 08950 Esplugues de Llobregat, Barcelona, Spain., Saiz A; Neuroimmunology Program, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic, Universitat de Barcelona, 08036 Barcelona, Spain.; Neuroimmunology Unit, Service of Neurology, Hospital Clínic, Universitat de Barcelona, 08036 Barcelona, Spain., Mignot E; Center for Sleep Science and Medicine, Stanford University, Stanford, CA 94304, USA., Vanderver A; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Casanova JL; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163 Necker Hospital for Sick Children, 75015 Paris, France.; Paris City University, Imagine Institute, 75015 Paris, France.; Howard Hughes Medical Institute, Rockefeller University, New York, NY 10065, USA., Zhang SY; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163 Necker Hospital for Sick Children, 75015 Paris, France.; Paris City University, Imagine Institute, 75015 Paris, France.; Howard Hughes Medical Institute, Rockefeller University, New York, NY 10065, USA., Dalmau J; Neuroimmunology Program, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic, Universitat de Barcelona, 08036 Barcelona, Spain.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Catalan Institute for Research and Advanced Studies (ICREA), 08010 Barcelona, Spain.

Publikováno v: Brain : a journal of neurology [Brain] 2023 Oct 03; Vol. 146 (10), pp. 4306-4319.

Progressive cognitive impairment and familial spastic paraparesis due to PRESENILIN 1 mutation: anatomoclinical characterization.

Autor: Altuna M; Sant Pau Memory Unit, Hospital de la Santa Creu i Sant Pau-Biomedical Research Institute Sant Pau-Universitat Autònoma de Barcelona, Barcelona, Spain. maltuna@cita-alzheimer.org.; Centre of Biomedical Investigation Network for Neurodegenerative Diseases (CIBERNED), Madrid, Spain. maltuna@cita-alzheimer.org.; CITA-Alzheimer Foundation, Donostia-San Sebastián, Spain. maltuna@cita-alzheimer.org., Larumbe R; Department of Neurology, Hospital Universitario de Navarra, Pamplona, Spain.; Neuroepigenetics Laboratory-Navarrabiomed, Hospital Universitario de Navarra, Universidad Pública de Navarra (UPNA), IdiSNA (Navarra Institute for Health Research), Pamplona, Spain., Zelaya MV; Department of Pathological Anatomy, Hospital Universitario de Navarra, Pamplona, Spain., Moreno S; Department of Genetics, Hospital Universitario de Navarra, Pamplona, Spain., García-Solaesa V; Department of Genetics, Hospital Universitario de Navarra, Pamplona, Spain., Mendioroz M; Department of Neurology, Hospital Universitario de Navarra, Pamplona, Spain.; Neuroepigenetics Laboratory-Navarrabiomed, Hospital Universitario de Navarra, Universidad Pública de Navarra (UPNA), IdiSNA (Navarra Institute for Health Research), Pamplona, Spain., Ramos MA; Department of Genetics, Hospital Universitario de Navarra, Pamplona, Spain., Erro ME; Department of Neurology, Hospital Universitario de Navarra, Pamplona, Spain. elena.erro.aguirre@navarra.es.; Neuroepigenetics Laboratory-Navarrabiomed, Hospital Universitario de Navarra, Universidad Pública de Navarra (UPNA), IdiSNA (Navarra Institute for Health Research), Pamplona, Spain. elena.erro.aguirre@navarra.es.

Publikováno v: Journal of neurology [J Neurol] 2022 Sep; Vol. 269 (9), pp. 4853-4862. Date of Electronic Publication: 2022 Apr 19.