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A splice-altering homozygous variant in COX18 causes severe sensory-motor neuropathy with oculofacial apraxia.
Mavillard, Fabiola; Guerra-Castellano, Alejandra; Guerrero-Gómez, David; Rivas, Eloy; Cantero, Gloria; Servian-Morilla, Emilia; Folland, Chiara; Ravenscroft, Gianina; Martín, Miguel A; Miranda-Vizuete, Antonio; Cabrera-Serrano, Macarena; Diaz-Moreno, Irene; Paradas, Carmen.
Affiliation
  • Mavillard F; Neuromuscular Unit, Neurology Department, Instituto de Biomedicina de Sevilla (IBIS)/Hospital Virgen del Rocío/CSIC/Universidad de Sevilla, Spain; Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Sevilla, Spain.
  • Guerra-Castellano A; Instituto de Investigaciones Químicas, Universidad de Sevilla-CSIC, Sevilla, Spain.
  • Guerrero-Gómez D; Redox Homeostasis Group, Instituto de Biomedicina de Sevilla (IBIS)/Hospital Virgen del Rocío/CSIC/Universidad de Sevilla, Spain.
  • Rivas E; Department of Neuropathology, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
  • Cantero G; Neuromuscular Unit, Neurology Department, Instituto de Biomedicina de Sevilla (IBIS)/Hospital Virgen del Rocío/CSIC/Universidad de Sevilla, Spain; Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Sevilla, Spain.
  • Servian-Morilla E; Neuromuscular Unit, Neurology Department, Instituto de Biomedicina de Sevilla (IBIS)/Hospital Virgen del Rocío/CSIC/Universidad de Sevilla, Spain; Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Sevilla, Spain.
  • Folland C; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.
  • Ravenscroft G; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.
  • Martín MA; Mitochondrial & Neuromuscular Disorders Group, Genetics Department, Hospital 12 de Octubre Research Institute (imas12), Madrid, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
  • Miranda-Vizuete A; Redox Homeostasis Group, Instituto de Biomedicina de Sevilla (IBIS)/Hospital Virgen del Rocío/CSIC/Universidad de Sevilla, Spain.
  • Cabrera-Serrano M; Neuromuscular Unit, Neurology Department, Instituto de Biomedicina de Sevilla (IBIS)/Hospital Virgen del Rocío/CSIC/Universidad de Sevilla, Spain; Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Sevilla, Spain.
  • Diaz-Moreno I; Instituto de Investigaciones Químicas, Universidad de Sevilla-CSIC, Sevilla, Spain. Electronic address: idiazmoreno@us.es.
  • Paradas C; Neuromuscular Unit, Neurology Department, Instituto de Biomedicina de Sevilla (IBIS)/Hospital Virgen del Rocío/CSIC/Universidad de Sevilla, Spain; Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Sevilla, Spain. Electronic address: cpar
Biochim Biophys Acta Mol Basis Dis ; 1870(7): 167330, 2024 10.
Article in En | MEDLINE | ID: mdl-38960055
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Homozygote Limits: Female / Humans / Male Language: En Journal: Biochim Biophys Acta Mol Basis Dis Year: 2024 Document type: Article Affiliation country: España Country of publication: Países Bajos
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Homozygote Limits: Female / Humans / Male Language: En Journal: Biochim Biophys Acta Mol Basis Dis Year: 2024 Document type: Article Affiliation country: España Country of publication: Países Bajos