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Primary familial brain calcification caused by a novel homozygous MYORG mutation in a consanguineous Italian family.
Ramos, Eliana Marisa; Roca, Alessandro; Chumchim, Noravit; Dokuru, Deepika Reddy; Van Berlo, Victoria; De Michele, Giovanna; Lieto, Maria; Tedeschi, Enrico; De Michele, Giuseppe; Coppola, Giovanni.
Afiliación
  • Ramos EM; Department of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, 695 Charles E. Young Drive South, #3506C Gonda Neuroscience and Genetics Research Center, Los Angeles, CA, 90095, USA.
  • Roca A; Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
  • Chumchim N; Department of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, 695 Charles E. Young Drive South, #3506C Gonda Neuroscience and Genetics Research Center, Los Angeles, CA, 90095, USA.
  • Dokuru DR; Department of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, 695 Charles E. Young Drive South, #3506C Gonda Neuroscience and Genetics Research Center, Los Angeles, CA, 90095, USA.
  • Van Berlo V; Department of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, 695 Charles E. Young Drive South, #3506C Gonda Neuroscience and Genetics Research Center, Los Angeles, CA, 90095, USA.
  • De Michele G; Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
  • Lieto M; Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
  • Tedeschi E; Department of Advanced Biomedical Sciences, Federico II University, Naples, Italy.
  • De Michele G; Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
  • Coppola G; Department of Psychiatry, David Geffen School of Medicine, University of California Los Angeles, 695 Charles E. Young Drive South, #3506C Gonda Neuroscience and Genetics Research Center, Los Angeles, CA, 90095, USA. gcoppola@ucla.edu.
Neurogenetics ; 20(2): 99-102, 2019 05.
Article en En | MEDLINE | ID: mdl-30895394
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Encefalopatías / Calcinosis / Glicósido Hidrolasas / Homocigoto Tipo de estudio: Prognostic_studies Límite: Adult / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Neurogenetics Asunto de la revista: GENETICA / NEUROLOGIA Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Encefalopatías / Calcinosis / Glicósido Hidrolasas / Homocigoto Tipo de estudio: Prognostic_studies Límite: Adult / Humans / Male País/Región como asunto: Europa Idioma: En Revista: Neurogenetics Asunto de la revista: GENETICA / NEUROLOGIA Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos