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Mutational screening of the SH3TC2 gene in Greek patients with suspected demyelinating recessive Charcot-Marie-Tooth disease reveals a varied and unusual phenotypic spectrum.
Kontogeorgiou, Zoi; Nikolaou, Katerina; Kartanou, Chrisoula; Breza, Marianthi; Panas, Marios; Karadima, Georgia; Koutsis, Georgios.
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  • Kontogeorgiou Z; Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital, Medical School National and Kapodistrian University of Athens, Athens, Greece.
  • Nikolaou K; Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital, Medical School National and Kapodistrian University of Athens, Athens, Greece.
  • Kartanou C; Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital, Medical School National and Kapodistrian University of Athens, Athens, Greece.
  • Breza M; Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital, Medical School National and Kapodistrian University of Athens, Athens, Greece.
  • Panas M; Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital, Medical School National and Kapodistrian University of Athens, Athens, Greece.
  • Karadima G; Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital, Medical School National and Kapodistrian University of Athens, Athens, Greece.
  • Koutsis G; Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital, Medical School National and Kapodistrian University of Athens, Athens, Greece.
J Peripher Nerv Syst ; 24(1): 125-130, 2019 03.
Article en En | MEDLINE | ID: mdl-30653784
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Péptidos y Proteínas de Señalización Intracelular Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Adolescent / Adult / Aged / Child / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: J Peripher Nerv Syst Asunto de la revista: NEUROLOGIA Año: 2019 Tipo del documento: Article País de afiliación: Grecia
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Péptidos y Proteínas de Señalización Intracelular Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Adolescent / Adult / Aged / Child / Female / Humans / Male / Middle aged País/Región como asunto: Europa Idioma: En Revista: J Peripher Nerv Syst Asunto de la revista: NEUROLOGIA Año: 2019 Tipo del documento: Article País de afiliación: Grecia