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Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations.
Lupo, Vincenzo; Frasquet, Marina; Sánchez-Monteagudo, Ana; Pelayo-Negro, Ana Lara; García-Sobrino, Tania; Sedano, María José; Pardo, Julio; Misiego, Mercedes; García-García, Jorge; Sobrido, María Jesús; Martínez-Rubio, María Dolores; Chumillas, María José; Vílchez, Juan Jesús; Vázquez-Costa, Juan Francisco; Espinós, Carmen; Sevilla, Teresa.
Affiliation
  • Lupo V; Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
  • Frasquet M; Rare Diseases Joint Units, INCLIVA & IIS La Fe-CIPF, Valencia, Spain.
  • Sánchez-Monteagudo A; Department of Genomics and Traslational Genetics, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
  • Pelayo-Negro AL; Neuromuscular Diseases Unit, Neurology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain.
  • García-Sobrino T; Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain.
  • Sedano MJ; Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
  • Pardo J; Rare Diseases Joint Units, INCLIVA & IIS La Fe-CIPF, Valencia, Spain.
  • Misiego M; Department of Genomics and Traslational Genetics, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
  • García-García J; University Hospital 'Marqués de Valdecilla (IDIVAL)' and 'Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED)', Santander, Spain.
  • Sobrido MJ; Neurology Department, Hospital Clínico Universitario, Santiago de Compostela, Spain.
  • Martínez-Rubio MD; University Hospital 'Marqués de Valdecilla (IDIVAL)' and 'Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED)', Santander, Spain.
  • Chumillas MJ; Neurology Department, Hospital Clínico Universitario, Santiago de Compostela, Spain.
  • Vílchez JJ; Neurology Department, Hospital Sierrallana, Torrelavega, Spain.
  • Vázquez-Costa JF; Neurology Department, Complejo Hospitalario Universitario de Albacete, Albacete, Spain.
  • Espinós C; Neurogenetics Research Group, Instituto de Investigaciones Sanitarias (IDIS), and Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain.
  • Sevilla T; Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
J Med Genet ; 55(12): 814-823, 2018 12.
Article de En | MEDLINE | ID: mdl-30415211
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Phénotype / Metalloendopeptidases / Neuropathies périphériques / Modes de transmission héréditaire / Études d'associations génétiques / Mutation Type d'étude: Prognostic_studies Limites: Adult / Aged / Female / Humans / Male / Middle aged Langue: En Journal: J Med Genet Année: 2018 Type de document: Article Pays d'affiliation: Espagne Pays de publication: Royaume-Uni
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Phénotype / Metalloendopeptidases / Neuropathies périphériques / Modes de transmission héréditaire / Études d'associations génétiques / Mutation Type d'étude: Prognostic_studies Limites: Adult / Aged / Female / Humans / Male / Middle aged Langue: En Journal: J Med Genet Année: 2018 Type de document: Article Pays d'affiliation: Espagne Pays de publication: Royaume-Uni