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Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48).
Genis, David; Ortega-Cubero, Sara; San Nicolás, Hector; Corral, Jordi; Gardenyes, Josep; de Jorge, Laura; López, Eva; Campos, Berta; Lorenzo, Elena; Tonda, Raúl; Beltran, Sergi; Negre, Montserrat; Obón, María; Beltran, Brigitte; Fàbregas, Laura; Alemany, Berta; Márquez, Fabián; Ramió-Torrentà, Lluís; Gich, Jordi; Volpini, Víctor; Pastor, Pau.
Afiliación
  • Genis D; From the Unit of Ataxias, Spastic Paraparesis, and Rare Neurological Diseases (D.G., B.A.) and Neuropsychology Unit (J.G.), Neurology Service (F.M., L.R.-T.), Nuclear Medicine Unit (M.N.), Genetic Unit, Laboratori Clinic Territorial de Girona (M.O.), and MRI Center, Institute of Diagnostic Imaging (
  • Ortega-Cubero S; From the Unit of Ataxias, Spastic Paraparesis, and Rare Neurological Diseases (D.G., B.A.) and Neuropsychology Unit (J.G.), Neurology Service (F.M., L.R.-T.), Nuclear Medicine Unit (M.N.), Genetic Unit, Laboratori Clinic Territorial de Girona (M.O.), and MRI Center, Institute of Diagnostic Imaging (
  • San Nicolás H; From the Unit of Ataxias, Spastic Paraparesis, and Rare Neurological Diseases (D.G., B.A.) and Neuropsychology Unit (J.G.), Neurology Service (F.M., L.R.-T.), Nuclear Medicine Unit (M.N.), Genetic Unit, Laboratori Clinic Territorial de Girona (M.O.), and MRI Center, Institute of Diagnostic Imaging (
  • Corral J; From the Unit of Ataxias, Spastic Paraparesis, and Rare Neurological Diseases (D.G., B.A.) and Neuropsychology Unit (J.G.), Neurology Service (F.M., L.R.-T.), Nuclear Medicine Unit (M.N.), Genetic Unit, Laboratori Clinic Territorial de Girona (M.O.), and MRI Center, Institute of Diagnostic Imaging (
  • Gardenyes J; From the Unit of Ataxias, Spastic Paraparesis, and Rare Neurological Diseases (D.G., B.A.) and Neuropsychology Unit (J.G.), Neurology Service (F.M., L.R.-T.), Nuclear Medicine Unit (M.N.), Genetic Unit, Laboratori Clinic Territorial de Girona (M.O.), and MRI Center, Institute of Diagnostic Imaging (
  • de Jorge L; From the Unit of Ataxias, Spastic Paraparesis, and Rare Neurological Diseases (D.G., B.A.) and Neuropsychology Unit (J.G.), Neurology Service (F.M., L.R.-T.), Nuclear Medicine Unit (M.N.), Genetic Unit, Laboratori Clinic Territorial de Girona (M.O.), and MRI Center, Institute of Diagnostic Imaging (
  • López E; From the Unit of Ataxias, Spastic Paraparesis, and Rare Neurological Diseases (D.G., B.A.) and Neuropsychology Unit (J.G.), Neurology Service (F.M., L.R.-T.), Nuclear Medicine Unit (M.N.), Genetic Unit, Laboratori Clinic Territorial de Girona (M.O.), and MRI Center, Institute of Diagnostic Imaging (
  • Campos B; From the Unit of Ataxias, Spastic Paraparesis, and Rare Neurological Diseases (D.G., B.A.) and Neuropsychology Unit (J.G.), Neurology Service (F.M., L.R.-T.), Nuclear Medicine Unit (M.N.), Genetic Unit, Laboratori Clinic Territorial de Girona (M.O.), and MRI Center, Institute of Diagnostic Imaging (
  • Lorenzo E; From the Unit of Ataxias, Spastic Paraparesis, and Rare Neurological Diseases (D.G., B.A.) and Neuropsychology Unit (J.G.), Neurology Service (F.M., L.R.-T.), Nuclear Medicine Unit (M.N.), Genetic Unit, Laboratori Clinic Territorial de Girona (M.O.), and MRI Center, Institute of Diagnostic Imaging (
  • Tonda R; From the Unit of Ataxias, Spastic Paraparesis, and Rare Neurological Diseases (D.G., B.A.) and Neuropsychology Unit (J.G.), Neurology Service (F.M., L.R.-T.), Nuclear Medicine Unit (M.N.), Genetic Unit, Laboratori Clinic Territorial de Girona (M.O.), and MRI Center, Institute of Diagnostic Imaging (
  • Beltran S; From the Unit of Ataxias, Spastic Paraparesis, and Rare Neurological Diseases (D.G., B.A.) and Neuropsychology Unit (J.G.), Neurology Service (F.M., L.R.-T.), Nuclear Medicine Unit (M.N.), Genetic Unit, Laboratori Clinic Territorial de Girona (M.O.), and MRI Center, Institute of Diagnostic Imaging (
  • Negre M; From the Unit of Ataxias, Spastic Paraparesis, and Rare Neurological Diseases (D.G., B.A.) and Neuropsychology Unit (J.G.), Neurology Service (F.M., L.R.-T.), Nuclear Medicine Unit (M.N.), Genetic Unit, Laboratori Clinic Territorial de Girona (M.O.), and MRI Center, Institute of Diagnostic Imaging (
  • Obón M; From the Unit of Ataxias, Spastic Paraparesis, and Rare Neurological Diseases (D.G., B.A.) and Neuropsychology Unit (J.G.), Neurology Service (F.M., L.R.-T.), Nuclear Medicine Unit (M.N.), Genetic Unit, Laboratori Clinic Territorial de Girona (M.O.), and MRI Center, Institute of Diagnostic Imaging (
  • Beltran B; From the Unit of Ataxias, Spastic Paraparesis, and Rare Neurological Diseases (D.G., B.A.) and Neuropsychology Unit (J.G.), Neurology Service (F.M., L.R.-T.), Nuclear Medicine Unit (M.N.), Genetic Unit, Laboratori Clinic Territorial de Girona (M.O.), and MRI Center, Institute of Diagnostic Imaging (
  • Fàbregas L; From the Unit of Ataxias, Spastic Paraparesis, and Rare Neurological Diseases (D.G., B.A.) and Neuropsychology Unit (J.G.), Neurology Service (F.M., L.R.-T.), Nuclear Medicine Unit (M.N.), Genetic Unit, Laboratori Clinic Territorial de Girona (M.O.), and MRI Center, Institute of Diagnostic Imaging (
  • Alemany B; From the Unit of Ataxias, Spastic Paraparesis, and Rare Neurological Diseases (D.G., B.A.) and Neuropsychology Unit (J.G.), Neurology Service (F.M., L.R.-T.), Nuclear Medicine Unit (M.N.), Genetic Unit, Laboratori Clinic Territorial de Girona (M.O.), and MRI Center, Institute of Diagnostic Imaging (
  • Márquez F; From the Unit of Ataxias, Spastic Paraparesis, and Rare Neurological Diseases (D.G., B.A.) and Neuropsychology Unit (J.G.), Neurology Service (F.M., L.R.-T.), Nuclear Medicine Unit (M.N.), Genetic Unit, Laboratori Clinic Territorial de Girona (M.O.), and MRI Center, Institute of Diagnostic Imaging (
  • Ramió-Torrentà L; From the Unit of Ataxias, Spastic Paraparesis, and Rare Neurological Diseases (D.G., B.A.) and Neuropsychology Unit (J.G.), Neurology Service (F.M., L.R.-T.), Nuclear Medicine Unit (M.N.), Genetic Unit, Laboratori Clinic Territorial de Girona (M.O.), and MRI Center, Institute of Diagnostic Imaging (
  • Gich J; From the Unit of Ataxias, Spastic Paraparesis, and Rare Neurological Diseases (D.G., B.A.) and Neuropsychology Unit (J.G.), Neurology Service (F.M., L.R.-T.), Nuclear Medicine Unit (M.N.), Genetic Unit, Laboratori Clinic Territorial de Girona (M.O.), and MRI Center, Institute of Diagnostic Imaging (
  • Volpini V; From the Unit of Ataxias, Spastic Paraparesis, and Rare Neurological Diseases (D.G., B.A.) and Neuropsychology Unit (J.G.), Neurology Service (F.M., L.R.-T.), Nuclear Medicine Unit (M.N.), Genetic Unit, Laboratori Clinic Territorial de Girona (M.O.), and MRI Center, Institute of Diagnostic Imaging (
  • Pastor P; From the Unit of Ataxias, Spastic Paraparesis, and Rare Neurological Diseases (D.G., B.A.) and Neuropsychology Unit (J.G.), Neurology Service (F.M., L.R.-T.), Nuclear Medicine Unit (M.N.), Genetic Unit, Laboratori Clinic Territorial de Girona (M.O.), and MRI Center, Institute of Diagnostic Imaging (
Neurology ; 91(21): e1988-e1998, 2018 11 20.
Article en En | MEDLINE | ID: mdl-30381368
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ataxias Espinocerebelosas / Ubiquitina-Proteína Ligasas Tipo de estudio: Etiology_studies Límite: Adult / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Neurology Año: 2018 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ataxias Espinocerebelosas / Ubiquitina-Proteína Ligasas Tipo de estudio: Etiology_studies Límite: Adult / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: Neurology Año: 2018 Tipo del documento: Article