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  • Abstract
  • Keywords
  • Abbreviations
  • Resumen
  • Palabras clave
    • Abstract
    • Keywords
    • Abbreviations
    • Resumen
    • Palabras clave
    • Introduction
    • Method
    • Subjects
    • Genetic testing
    • In silico prediction
    • Plasma progranulin dosage
    • Grn mrna and cdna analysis
    • Results
    • Molecular findings
    • Clinical findings
    • Discussion
    • Competing interests
    • Funding
    • Acknowledgments
    • Bibliography
Original article
DOI: 10.1016/j.nrleng.2022.10.001
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A variant in GRN of Spanish origin presenting with heterogeneous phenotypes
Una variante en GRN de origen Español con presentación fenotípica heterogénea
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M. Menéndez-Gonzáleza,b,c,
,1, A. García-Martíneza,1, I. Fernández-Vegab,d,e, A. Pitiotf, V. Álvarezb,g
a Department of Neurology, Hospital Universitario Central de Asturias, Spain
b Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Spain
c Department of Medicine, Universidad de Oviedo, Spain
d Department of Pathology Anatomy, Hospital Universitario Central de Asturias, Spain
e Department of Surgery, Universidad de Oviedo, Spain
f Laboratory of Molecular Oncology, Hospital Universitario Central de Asturias, Spain
g Laboratory of Genetics, Hospital Universitario Central de Asturias, Spain

Article

This article is available in English

A variant in GRN of Spanish origin presenting with heterogeneous phenotypes
M. Menéndez-González, A. García-Martínez, I. Fernández-Vega, A. Pitiot, V. Álvarez
10.1016/j.nrleng.2022.10.001
Neurologia. 2025;40:57-65

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