A Comparative Study of SMN Protein and mRNA in Blood and Fibroblasts in Patients with Spinal Muscular Atrophy and Healthy Controls.

Wadman, Renske I; Stam, Marloes; Jansen, Marc D; van der Weegen, Yana; Wijngaarde, Camiel A; Harschnitz, Oliver; Sodaar, Peter; Braun, Kees P J; Dooijes, Dennis; Lemmink, Henny H; van den Berg, Leonard H; van der Pol, W Ludo

Wadman, Renske I; Stam, Marloes; Jansen, Marc D; van der Weegen, Yana; Wijngaarde, Camiel A; Harschnitz, Oliver; Sodaar, Peter; Braun, Kees P J; Dooijes, Dennis; Lemmink, Henny H; van den Berg, Leonard H; van der Pol, W Ludo.

Afiliación

Wadman RI; Brain Centre Rudolf Magnus, Department of Neurology and Neurosurgery, University Medical Centre Utrecht, Utrecht, The Netherlands.
Stam M; Brain Centre Rudolf Magnus, Department of Neurology and Neurosurgery, University Medical Centre Utrecht, Utrecht, The Netherlands.
Jansen MD; Brain Centre Rudolf Magnus, Department of Neurology and Neurosurgery, University Medical Centre Utrecht, Utrecht, The Netherlands.
van der Weegen Y; Brain Centre Rudolf Magnus, Department of Neurology and Neurosurgery, University Medical Centre Utrecht, Utrecht, The Netherlands.
Wijngaarde CA; Brain Centre Rudolf Magnus, Department of Neurology and Neurosurgery, University Medical Centre Utrecht, Utrecht, The Netherlands.
Harschnitz O; Brain Centre Rudolf Magnus, Department of Neurology and Neurosurgery, University Medical Centre Utrecht, Utrecht, The Netherlands.
Sodaar P; Brain Centre Rudolf Magnus, Department of Neurology and Neurosurgery, University Medical Centre Utrecht, Utrecht, The Netherlands.
Braun KP; Brain Centre Rudolf Magnus, Department of Neurology and Child Neurology, University Medical Centre Utrecht, Utrecht, The Netherlands.
Dooijes D; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
Lemmink HH; Department of Genetics, University Medical Centre Groningen, Groningen, The Netherlands.
van den Berg LH; Brain Centre Rudolf Magnus, Department of Neurology and Neurosurgery, University Medical Centre Utrecht, Utrecht, The Netherlands.
van der Pol WL; Brain Centre Rudolf Magnus, Department of Neurology and Neurosurgery, University Medical Centre Utrecht, Utrecht, The Netherlands.

PLoS One ; 11(11): e0167087, 2016.

Article en En | MEDLINE | ID: mdl-27893852

Asunto(s)

Biomarcadores/análisis; Fibroblastos/metabolismo; Atrofia Muscular Espinal/diagnóstico; ARN Mensajero/genética; Adolescente; Adulto; Anciano; Anciano de 80 o más Años; Estudios de Casos y Controles; Niño; Preescolar; Estudios Transversales; Variaciones en el Número de Copia de ADN/genética; Femenino; Fibroblastos/patología; Estudios de Seguimiento; Humanos; Lactante; Masculino; Persona de Mediana Edad; Atrofia Muscular Espinal/sangre; Atrofia Muscular Espinal/genética; Pronóstico; Reacción en Cadena en Tiempo Real de la Polimerasa; Proteína 2 para la Supervivencia de la Neurona Motora/sangre; Proteína 2 para la Supervivencia de la Neurona Motora/genética; Adulto Joven

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: ARN Mensajero / Atrofia Muscular Espinal / Biomarcadores / Fibroblastos Tipo de estudio: Clinical_trials / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: PLoS One Asunto de la revista: CIENCIA / MEDICINA Año: 2016 Tipo del documento: Article

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