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Alfons Macaya Ruíz

Institutions of which they are part

Head of group
Pediatric Neurology
Vall Hebron Institut de Recerca

Alfons Macaya Ruíz

Institutions of which they are part

Head of group
Pediatric Neurology
Vall Hebron Institut de Recerca

Projects

Relación entre los antecedentes de prematuridad y el consumo de fármacos para el tratamiento del TDAH en la infancia. Estudio observacional retrospectivo.

IP: Josep Perapoch López
Collaborators: Alfons Macaya Ruíz, Vanesa Richarte Fernández
Funding agency: Fundación Alicia Koplowitz
Funding: 50000
Reference: FAK-2012-02
Duration: 01/10/2012 - 30/12/2014

Secuenciación exómica en el estudio molecular de las encefalopatías epilépticas de inicio precoz

IP: Alfons Macaya Ruíz
Collaborators: Miquel Raspall Chaure, Marta Vila Pueyo
Funding agency: Instituto de Salud Carlos III
Funding: 98615
Reference: PI12/01005
Duration: 01/01/2013 - 31/12/2015

Intensificació

IP: Alfons Macaya Ruíz
Collaborators: -
Funding agency: Instituto de Salud Carlos III
Funding: 30000
Reference: INT11/340
Duration: 01/01/2012 - 31/12/2012

Estradiol and estrogen receptor regulation of myogenic differenciation. Therapeutic potential of estrogen receptor modulators in dystrophin deficient skeletal muscle

IP: Alfons Macaya Ruíz
Collaborators: -
Funding agency: Ministerio de Ciencia e Innovación-MICINN
Funding: 100980
Reference: JCI-2010-06298
Duration: 03/12/2010 - 31/08/2011

Ministerio de Ciencia

Related news

The donation will enable further characterisation of patients with this rare disease, the identification of new biomarkers and the exploration of innovative therapies.

The clinical trial, which also involved Vall d’Hebron, shows that the new therapy improves survival by 86% in patients with thymidine kinase 2 deficiency (TK2d).

The ClinPrior algorithm achieved a positive diagnosis rate of 70% in two minority diseases of neurodegenerative origin, which represents double the number of cases that are diagnosed with current tools.

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