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MRI evaluation of Neurological findings in WS

Principal Investigators Dr. Lucas Fernandez Brillet, and GemaEsteban Bueno, MD, Barcelona, Spain

  • Broad categories of neurodegenerative findings in WS have been proposed and established through prior work done by WS researchers.
  • This project, proposed by Dr. Lucas Brillet, aims to determine in more detail the areas of the brain that are affected in WS, and to stratify these results with respect to different WFS1 mutations.
  • This project will help us better understand the natural history of WS, and better understand mutation-specific symptoms that may be amenable to different types of treatment to slow progression.
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Dr. Gema Esteban Bueno

Especialista en Medicina Familiar y Comunitaria Coordinadora del Equipo multidisciplinar del Síndrome de Wolfram Español

Below are the most important activities led by  Dr. Gema Esteban Bueno as head of the Spanish Clinical Wolfram Syndrome Team and scientific head of the Spanish Association for Research and Assistance to Wolfram Syndrome (AEIASW).. It also lists the scientific-bibliographic resources that seek to disseminate, support and improve the quality of life of those affected by  Wolfram Syndrome and their families, while seeking better medical assistance from healthcare professionals. Most bibliographic resources are in Spanish.

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