Your browser doesn't support javascript.
loading
A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy.
Argente-Escrig, Herminia; Vílchez, Juan J; Frasquet, Marina; Muelas, Nuria; Azorín, Inmaculada; Vílchez, Roger; Millet-Sancho, Elvira; Pitarch, Inmaculada; Tomás-Vila, Miguel; Vázquez-Costa, Juan F; Mas-Estellés, Fernando; Marco-Marín, Clara; Espinós, Carmen; Serrano-Lorenzo, Pablo; Martin, Miguel A; Lupo, Vincenzo; Sevilla, Teresa.
Afiliação
  • Argente-Escrig H; Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain.
  • Vílchez JJ; Neuromuscular Diseases Unit, Department of Neurology, Hospital Universitari i Politècnic La Fe, Valencia, Spain.
  • Frasquet M; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Valencia, Spain.
  • Muelas N; Rare Diseases Joint Unit IIS La Fe - CIPF, Valencia, Spain.
  • Azorín I; Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain.
  • Vílchez R; Neuromuscular Diseases Unit, Department of Neurology, Hospital Universitari i Politècnic La Fe, Valencia, Spain.
  • Millet-Sancho E; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Valencia, Spain.
  • Pitarch I; Rare Diseases Joint Unit IIS La Fe - CIPF, Valencia, Spain.
  • Tomás-Vila M; Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain.
  • Vázquez-Costa JF; Neuromuscular Diseases Unit, Department of Neurology, Hospital Universitari i Politècnic La Fe, Valencia, Spain.
  • Mas-Estellés F; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Valencia, Spain.
  • Marco-Marín C; Rare Diseases Joint Unit IIS La Fe - CIPF, Valencia, Spain.
  • Espinós C; Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain.
  • Serrano-Lorenzo P; Neuromuscular Diseases Unit, Department of Neurology, Hospital Universitari i Politècnic La Fe, Valencia, Spain.
  • Martin MA; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Valencia, Spain.
  • Lupo V; Rare Diseases Joint Unit IIS La Fe - CIPF, Valencia, Spain.
  • Sevilla T; Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain.
Neuropathol Appl Neurobiol ; 48(5): e12817, 2022 08.
Article em En | MEDLINE | ID: mdl-35342985
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: TRNA Metiltransferases / Doenças do Sistema Nervoso Periférico / Doenças Mitocondriais Tipo de estudo: Etiology_studies Limite: Humans Idioma: En Revista: Neuropathol Appl Neurobiol Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: TRNA Metiltransferases / Doenças do Sistema Nervoso Periférico / Doenças Mitocondriais Tipo de estudo: Etiology_studies Limite: Humans Idioma: En Revista: Neuropathol Appl Neurobiol Ano de publicação: 2022 Tipo de documento: Article