116. ESTUDIO COMPARATIVO DE LA VASCULITIS PRIMARIA DEL SISTEMA NERVIOSO CENTRAL Y SUS MIMETISMOS ANATOMO-PATOLÓGICOS

Autor: Elosua-Bayés, I., Vilaseca, A., Zabalza, A., Camacho, J., Roig, M., Río, J., Martínez-Valle, F., Sastre-Garriga, J., Tintoré, M., Montalban, X., Ariño, H., Martínez-Sáez, E.

Publikováno v: In Neurology Perspectives November 2024 4 Supplement 1:344-345

Teaching NeuroImage: Paraneoplastic Cerebellar Degeneration and Antibodies to TRIM 9 and 67 Secondary to Melanoma.

Autor: Vilaseca A; From the Department of Neurology (A.V., V.G.), Department of Pathology (E.M.-S.), and MRI Unit (C.A.), Vall d'Hebron University Hospital; Department of Immunology (L.N., R.R.-G.), Centre Diagnòstic Biomèdic, Hospital Clínic; and Neuroimmunology Program (R.R.-G.), Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain., Martínez-Sáez E; From the Department of Neurology (A.V., V.G.), Department of Pathology (E.M.-S.), and MRI Unit (C.A.), Vall d'Hebron University Hospital; Department of Immunology (L.N., R.R.-G.), Centre Diagnòstic Biomèdic, Hospital Clínic; and Neuroimmunology Program (R.R.-G.), Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain., González V; From the Department of Neurology (A.V., V.G.), Department of Pathology (E.M.-S.), and MRI Unit (C.A.), Vall d'Hebron University Hospital; Department of Immunology (L.N., R.R.-G.), Centre Diagnòstic Biomèdic, Hospital Clínic; and Neuroimmunology Program (R.R.-G.), Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain., Auger C; From the Department of Neurology (A.V., V.G.), Department of Pathology (E.M.-S.), and MRI Unit (C.A.), Vall d'Hebron University Hospital; Department of Immunology (L.N., R.R.-G.), Centre Diagnòstic Biomèdic, Hospital Clínic; and Neuroimmunology Program (R.R.-G.), Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain., Naranjo L; From the Department of Neurology (A.V., V.G.), Department of Pathology (E.M.-S.), and MRI Unit (C.A.), Vall d'Hebron University Hospital; Department of Immunology (L.N., R.R.-G.), Centre Diagnòstic Biomèdic, Hospital Clínic; and Neuroimmunology Program (R.R.-G.), Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain., Ruiz-García R; From the Department of Neurology (A.V., V.G.), Department of Pathology (E.M.-S.), and MRI Unit (C.A.), Vall d'Hebron University Hospital; Department of Immunology (L.N., R.R.-G.), Centre Diagnòstic Biomèdic, Hospital Clínic; and Neuroimmunology Program (R.R.-G.), Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain. rruizg@clinic.cat.

Publikováno v: Neurology [Neurology] 2023 Oct 17; Vol. 101 (16), pp. e1652-e1653. Date of Electronic Publication: 2023 Aug 14.

Identification of two novel RRM2B variants associated with autosomal recessive progressive external ophthalmoplegia in a family with pseudodominant inheritance pattern.

Autor: Restrepo-Vera JL; Neuromuscular Diseases Unit, European Reference Network on Rare Neuromuscular Diseases, Department of Neurology, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain., Rovira-Moreno E; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain., Ramón J; Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain.; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Codina-Sola M; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain., Llauradó A; Neuromuscular Diseases Unit, European Reference Network on Rare Neuromuscular Diseases, Department of Neurology, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain., Salvadó M; Neuromuscular Diseases Unit, European Reference Network on Rare Neuromuscular Diseases, Department of Neurology, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain., Sánchez-Tejerina D; Neuromuscular Diseases Unit, European Reference Network on Rare Neuromuscular Diseases, Department of Neurology, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain., Sotoca J; Neuromuscular Diseases Unit, European Reference Network on Rare Neuromuscular Diseases, Department of Neurology, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain., Martínez-Sáez E; Department of Pathology, Hospital Vall d'Hebron, Universitat Autònoma Barcelona, 08035, Barcelona, Spain., Martí R; Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain.; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., García-Arumí E; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain. e.garcia@vhebron.net.; Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain. e.garcia@vhebron.net.; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. e.garcia@vhebron.net., Juntas-Morales R; Neuromuscular Diseases Unit, European Reference Network on Rare Neuromuscular Diseases, Department of Neurology, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain. rjuntas@vhebron.net.

Publikováno v: Journal of human genetics [J Hum Genet] 2023 Aug; Vol. 68 (8), pp. 527-532. Date of Electronic Publication: 2023 Mar 23.

Limb-girdle myopathy and mild intellectual disability: The expanding spectrum of TANGO2-related disease.

Autor: Restrepo-Vera JL; Department of Neurology, Neuromuscular Diseases Unit, European Reference Network on Rare Neuromuscular Diseases (ERN EURO-NMD), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Passeig Vall d'Hebron, 119-135, Barcelona 08035, Spain., Muñoz-Cabello P; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona 08035, Spain; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona (UAB), Barcelona 08035, Spain., Pérez-Rodon J; Department of Cardiology, Hospital Universitari Vall d'Hebrón, Universitat Autònoma de Barcelona, Vall d'Hebrón Institut de Recerca, CIBER-CV, Barcelona, Spain., Rovira-Moreno E; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona 08035, Spain; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona (UAB), Barcelona 08035, Spain., Codina-Solà M; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona 08035, Spain; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona (UAB), Barcelona 08035, Spain., Llauradó A; Department of Neurology, Neuromuscular Diseases Unit, European Reference Network on Rare Neuromuscular Diseases (ERN EURO-NMD), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Passeig Vall d'Hebron, 119-135, Barcelona 08035, Spain., Salvadó M; Department of Neurology, Neuromuscular Diseases Unit, European Reference Network on Rare Neuromuscular Diseases (ERN EURO-NMD), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Passeig Vall d'Hebron, 119-135, Barcelona 08035, Spain., Sánchez-Tejerina D; Department of Neurology, Neuromuscular Diseases Unit, European Reference Network on Rare Neuromuscular Diseases (ERN EURO-NMD), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Passeig Vall d'Hebron, 119-135, Barcelona 08035, Spain., Sotoca J; Department of Neurology, Neuromuscular Diseases Unit, European Reference Network on Rare Neuromuscular Diseases (ERN EURO-NMD), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Passeig Vall d'Hebron, 119-135, Barcelona 08035, Spain., Martínez-Sáez E; Department of Pathology, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona 08035, Spain., García-Arumí E; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona 08035, Spain; Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Juntas-Morales R; Department of Neurology, Neuromuscular Diseases Unit, European Reference Network on Rare Neuromuscular Diseases (ERN EURO-NMD), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Passeig Vall d'Hebron, 119-135, Barcelona 08035, Spain. Electronic address: rjuntas@vhebron.net.

Publikováno v: Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Jun; Vol. 33 (6), pp. 463-467. Date of Electronic Publication: 2023 Feb 23.

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