Your browser doesn't support javascript.
loading
Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome.
Galatolo, Daniele; Kuo, Molly E; Mullen, Patrick; Meyer-Schuman, Rebecca; Doccini, Stefano; Battini, Roberta; Lieto, Maria; Tessa, Alessandra; Filla, Alessandro; Francklyn, Christopher; Antonellis, Anthony; Santorelli, Filippo M.
Afiliação
  • Galatolo D; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
  • Kuo ME; Medical Scientist Training Program, University of Michigan Medical School, Ann Arbor, Michigan.
  • Mullen P; Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, Michigan.
  • Meyer-Schuman R; Department of Biochemistry, College of Medicine, University of Vermont, Burlington, Vermont.
  • Doccini S; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan.
  • Battini R; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
  • Lieto M; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
  • Tessa A; Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
  • Filla A; Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
  • Francklyn C; Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
  • Antonellis A; Department of Biochemistry, College of Medicine, University of Vermont, Burlington, Vermont.
  • Santorelli FM; Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, Michigan.
Hum Mutat ; 41(7): 1232-1237, 2020 07.
Article em En | MEDLINE | ID: mdl-32333447
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia / Histidina-tRNA Ligase Limite: Adult / Child / Female / Humans / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia / Histidina-tRNA Ligase Limite: Adult / Child / Female / Humans / Male Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Itália