Skip to main content

Pediatric Neurology

The Pediatric Neurology Research group is mainly involved in the study of genetic diseases of the developing nervous system. The main emphasis is on paroxysmal neurological disorders and neuromuscular disorders. A common theme across the different projects, besides the identification of the molecular basis of several of these rare disorders, is the investigation of molecules involved in their pathophysiological mechanisms and the effective translation of these findings into the fields of molecular diagnosis, genetic counselling and newly developed gene or drug therapies.

Team

David Gómez  Andrés

David Gómez Andrés

Postdoctoral researcher
Pediatric Neurology
Read more
Mireia del Toro Riera

Mireia del Toro Riera

Pediatric Neurology
Read more
Belen Perez Dueñas

Belen Perez Dueñas

Senior researcher
Pediatric Neurology
Read more
Ana Felipe Rucián

Ana Felipe Rucián

Read more
Alfons Macaya Ruíz

Alfons Macaya Ruíz

Head of group
Pediatric Neurology
Read more
Ana Laura Cazurro Gutierrez

Ana Laura Cazurro Gutierrez

Predoctoral researcher
Pediatric Neurology
Read more
David Gómez  Andrés

David Gómez Andrés

Postdoctoral researcher
Pediatric Neurology
Read more
Mireia del Toro Riera

Mireia del Toro Riera

Pediatric Neurology
Read more
Belen Perez Dueñas

Belen Perez Dueñas

Senior researcher
Pediatric Neurology
Read more
Ana Felipe Rucián

Ana Felipe Rucián

Read more
Alfons Macaya Ruíz

Alfons Macaya Ruíz

Head of group
Pediatric Neurology
Read more
Ana Laura Cazurro Gutierrez

Ana Laura Cazurro Gutierrez

Predoctoral researcher
Pediatric Neurology
Read more

Research lines

Pediatric neurogenetics

Neurogenetics of paroxysmal neurological disorders (neuronal channelopathies) Genetic and epigenetic basis of neural tube defects and Chiari type I malformation Clinical researchers have collected samples from more than 2000 patients with paroxysmal neurological disorders (migraine, epilepsy, paroxysmal movement disorders and episodic ataxias) and over 300 patients with Chiari I malformation. Current strategies include whole-genome linkage analysis, exome sequencing, customized array re-sequencing, SNP-based genetic association studies and expression analysis in fetal tissues. The goals in this area are: - to identify novel genetic variants responsible for these diseases - to establish a correlation between the genetic variants and the clinical forms of the disease - to perform functional studies of the mutant proteins - to design an animal model of cortical spreading depression, with emphasis in epigenetic modification of susceptibility genes.

IP: Alfons Macaya Ruíz

Pediatric Neuromuscular Disorders

1. DUCHENNE MUSCULAR DYSTROPHY (DMD) THERAPEUTIC POTENTIAL OF ESTROGENS IN DMD, EFFECTS AND MECHANISMS OF ACTION ON SATELLITE CELLS AND MACROPHAGES We have found that estradiol has beneficial effects on myogenesis and inflammation. We aim to characterize the estradiol effects on satellite cells and their interaction with macrophages and the ability of estrogens to increase the efficiency of cell therapy based on satellite cell transplant to restore the expression of dystrophin in the dystrophic muscle in vivo. IN VITRO TESTING OF GENE THERAPIES TO REPAIR DYSTROPHIN IN HUMAN MYOBLASTS AND DEVELOPMENT OF NANIOPARTICLES FOR MUSCLE DELIVERY Compounds with readthrough activity are currently used for DMD patients with nonsense mutations with highly variable results. We are testing the efficacy of several drugs with read-through action (PTC124, RTC14, RTC13, Geneticin) to restore protein levels in myoblasts and differentiated myotubes obtained from DMD patients carrying nonsense mutations with variable codon composition and different location. We are testing the possibility to use modified nanopaticles for muscle delivery of specific drugs. 2. USE OF NEW TECHNOLOGIES FOR DIAGNOSTIC OPTIMISATION IN INHERITED MYOPATHIES We used exome capture and massive sequencing technologies for the diagnosis of patients with neuromuscular disorders, to deliver a proof-of-concept of the superior diagnostic accuracy, speed and costeffectiveness of these novel technologies over current approaches.

IP: Francina Munell Casadesus

Projects

Análisis genético y molecular de la distonía mioclónica

IP: Belen Perez Dueñas
Collaborators: Ana Laura Cazurro Gutierrez, Judit Álvarez González
Funding agency: AGAUR
Funding: 64425.41
Reference: AGAUR/BEQUESFIPREDOC/2022/CAZURRO
Duration: 01/04/2022 - 31/03/2025

Enfermedades minoritarias causantes de degeneración de ganglios basales en pedriatría: implemementación combinada del análisis genómico y de biomarcadores.

IP: Belen Perez Dueñas
Collaborators: José Antonio Arranz Amo, Josefa Élida Vázquez Méndez, Alfons Macaya Ruíz, Clara Carnicer Cáceres, Mireia del Toro Riera, Ana Felipe Rucián
Funding agency: Instituto de Salud Carlos III
Funding: 196020
Reference: PI18/01319
Duration: 01/01/2019 - 31/12/2022

Mejora del rendimiento diagnóstico en genes sarcoméricos de gran tamaño

IP: Francina Munell Casadesus
Collaborators: Laura Costa Comellas, Elena Antima Martinez Saez, Maite Avilés García, David Gómez Andrés
Funding agency: Instituto de Salud Carlos III
Funding: 73205
Reference: AC19/00048
Duration: 01/01/2020 - 31/12/2022

Evaluation of NGS candidate genes causality in developmental epileptic encephalopathiea

IP: Alfons Macaya Ruíz
Collaborators: Miquel Raspall Chaure, Mireia del Toro Riera, Ana Felipe Rucián
Funding agency: Instituto de Salud Carlos III
Funding: 196020
Reference: PI20/01803
Duration: 01/01/2021 - 31/12/2023

Partida para intensificació durant la 2a i 3a anualitat

IP: Belen Perez Dueñas
Collaborators: -
Funding agency: Instituto de Salud Carlos III
Funding: 60000
Reference: PI18/01319_INT_DUEÑAS
Duration: 01/01/2020 - 31/12/2021

Enfermedades minoritarias causantes de degeneración de ganglios basales en pedriatría: implemementación combinada del análisis genómico y de biomarcadores.

IP: Belen Perez Dueñas
Collaborators: José Antonio Arranz Amo, Josefa Élida Vázquez Méndez, Alfons Macaya Ruíz, Clara Carnicer Cáceres, Mireia del Toro Riera, Ana Felipe Rucián
Funding agency: Instituto de Salud Carlos III
Funding: 196020
Reference: PI18/01319
Duration: 01/01/2019 - 31/12/2022

Mejora del rendimiento diagnóstico en genes sarcoméricos de gran tamaño

IP: Francina Munell Casadesus
Collaborators: Laura Costa Comellas, Elena Antima Martinez Saez, Maite Avilés García, David Gómez Andrés
Funding agency: Instituto de Salud Carlos III
Funding: 73205
Reference: AC19/00048
Duration: 01/01/2020 - 31/12/2022

Evaluation of NGS candidate genes causality in developmental epileptic encephalopathiea

IP: Alfons Macaya Ruíz
Collaborators: Miquel Raspall Chaure, Mireia del Toro Riera, Ana Felipe Rucián
Funding agency: Instituto de Salud Carlos III
Funding: 196020
Reference: PI20/01803
Duration: 01/01/2021 - 31/12/2023

Partida para intensificació durant la 2a i 3a anualitat

IP: Belen Perez Dueñas
Collaborators: -
Funding agency: Instituto de Salud Carlos III
Funding: 60000
Reference: PI18/01319_INT_DUEÑAS
Duration: 01/01/2020 - 31/12/2021

Exoma diagnóstico, exoma de investigación y genoma completo: maximizando el rendimiento de la secuenciación masiva en las encefalopatís epilépticas precoces

IP: Alfons Macaya Ruíz
Collaborators: Miquel Raspall Chaure
Funding agency: Instituto de Salud Carlos III
Funding: 140965
Reference: PI15/01791
Duration: 01/01/2016 - 30/11/2020

BIOMARCADORES Y GENES EN LA NECROSIS ESTRIATAL BILATERAL DE LA INFANCIA

IP: Belen Perez Dueñas
Collaborators: -
Funding agency: Instituto de Salud Carlos III
Funding: 108328.95
Reference: PI15/00287
Duration: 17/01/2018 - 30/11/2020

Enfermedades minoritarias causantes de degeneración de ganglios basales en pedriatría: implemementación combinada del análisis genómico y de biomarcadores.

IP: Belen Perez Dueñas
Collaborators: José Antonio Arranz Amo, Josefa Élida Vázquez Méndez, Alfons Macaya Ruíz, Clara Carnicer Cáceres, Mireia del Toro Riera, Ana Felipe Rucián
Funding agency: Instituto de Salud Carlos III
Funding: 196020
Reference: PI18/01319
Duration: 01/01/2019 - 31/12/2022

Exoma diagnóstico, exoma de investigación y genoma completo: maximizando el rendimiento de la secuenciación masiva en las encefalopatís epilépticas precoces

IP: Alfons Macaya Ruíz
Collaborators: Miquel Raspall Chaure
Funding agency: Instituto de Salud Carlos III
Funding: 140965
Reference: PI15/01791
Duration: 01/01/2016 - 30/11/2020

Implementació de la Medicina Personalitzada basada en la Genòmica en Malalties Minoritàries Neurològiques no Diagnosticades

IP: Alfons Macaya Ruíz
Collaborators: Elena García Arumí, Francina Munell Casadesus, Teresa Vendrell Bayona, Ramón Martí Seves, David Gómez Andrés, Eduardo Fidel Tizzano
Funding agency: Generalitat de Catalunya - Departament de Salut
Funding: 113977.67
Reference: SLT002/16/00174
Duration: 01/01/2017 - 31/12/2019

BIOMARCADORES Y GENES EN LA NECROSIS ESTRIATAL BILATERAL DE LA INFANCIA

IP: Belen Perez Dueñas
Collaborators: -
Funding agency: Instituto de Salud Carlos III
Funding: 108328.95
Reference: PI15/00287
Duration: 17/01/2018 - 30/11/2020

Enfermedades minoritarias causantes de degeneración de ganglios basales en pedriatría: implemementación combinada del análisis genómico y de biomarcadores.

IP: Belen Perez Dueñas
Collaborators: José Antonio Arranz Amo, Josefa Élida Vázquez Méndez, Alfons Macaya Ruíz, Clara Carnicer Cáceres, Mireia del Toro Riera, Ana Felipe Rucián
Funding agency: Instituto de Salud Carlos III
Funding: 196020
Reference: PI18/01319
Duration: 01/01/2019 - 31/12/2022

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

IP: Alfons Macaya Ruíz
Collaborators: -
Funding agency: Fundació Institut de Recerca HUVH
Funding: 46800
Reference: PRED-VHIR-2014-2
Duration: 16/02/2015 - 15/02/2018

Exoma diagnóstico, exoma de investigación y genoma completo: maximizando el rendimiento de la secuenciación masiva en las encefalopatís epilépticas precoces

IP: Alfons Macaya Ruíz
Collaborators: Miquel Raspall Chaure
Funding agency: Instituto de Salud Carlos III
Funding: 140965
Reference: PI15/01791
Duration: 01/01/2016 - 30/11/2020

Implementació de la Medicina Personalitzada basada en la Genòmica en Malalties Minoritàries Neurològiques no Diagnosticades

IP: Alfons Macaya Ruíz
Collaborators: Elena García Arumí, Francina Munell Casadesus, Teresa Vendrell Bayona, Ramón Martí Seves, David Gómez Andrés, Eduardo Fidel Tizzano
Funding agency: Generalitat de Catalunya - Departament de Salut
Funding: 113977.67
Reference: SLT002/16/00174
Duration: 01/01/2017 - 31/12/2019

Neurodegeneration with Brain Iron Accumulation: Clinical Assessment and Genetic Characterization by means of a Spanish Multi-Centre Research Network.

IP: Belen Perez Dueñas
Collaborators: -
Funding agency: Fundació La Marató de TV3
Funding: 42752.35
Reference: 20143130
Duration: 01/01/2018 - 31/12/2018

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

IP: Alfons Macaya Ruíz
Collaborators: -
Funding agency: Fundació Institut de Recerca HUVH
Funding: 46800
Reference: PRED-VHIR-2014-2
Duration: 16/02/2015 - 15/02/2018

Refuerzo del Personal Técnico de la Línea Transversal en Enfermedades Raras del Vhir

IP: Alfons Macaya Ruíz
Collaborators: Laia Perez Lasarte
Funding agency: Ministerio Economía, Industria y Competitividad
Funding: 39200
Reference: PEJ-2014-A-51663
Duration: 19/11/2015 - 19/11/2017

Potencial terapéutico de los estrógenos en la enfermedad de Duchenne: efectos y mecanismos de acción sobre las células satélite y macrófagos

IP: Francina Munell Casadesus
Collaborators: Maria Jose Pérez García, Mireia del Toro Riera, Elena Antima Martinez Saez
Funding agency: Instituto de Salud Carlos III
Funding: 57475
Reference: PI13/00052
Duration: 01/01/2014 - 30/09/2017

Exoma diagnóstico, exoma de investigación y genoma completo: maximizando el rendimiento de la secuenciación masiva en las encefalopatís epilépticas precoces

IP: Alfons Macaya Ruíz
Collaborators: Miquel Raspall Chaure
Funding agency: Instituto de Salud Carlos III
Funding: 140965
Reference: PI15/01791
Duration: 01/01/2016 - 30/11/2020

Neurociències

IP: Francina Munell Casadesus
Collaborators: Maria Jose Pérez García
Funding agency: Instituto de Salud Carlos III
Funding: 99000
Reference: CA12/00492
Duration: 31/01/2013 - 30/01/2016

The working hypothesis of this grant is that NMJ dysfunction is contributing to SMA. Therefore we propose to understand the dysfunction of NMJ in SMA and find specific molecules that can restore the NMJ functionality and improve the quality of the life o

IP: Francina Munell Casadesus
Collaborators: Maria Jose Pérez García
Funding agency: AGAUR
Funding: 91022.4
Reference: 2013 BP_B 00083
Duration: 01/10/2014 - 30/09/2016

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

IP: Alfons Macaya Ruíz
Collaborators: -
Funding agency: Fundació Institut de Recerca HUVH
Funding: 46800
Reference: PRED-VHIR-2014-2
Duration: 16/02/2015 - 15/02/2018

Refuerzo del Personal Técnico de la Línea Transversal en Enfermedades Raras del Vhir

IP: Alfons Macaya Ruíz
Collaborators: Laia Perez Lasarte
Funding agency: Ministerio Economía, Industria y Competitividad
Funding: 39200
Reference: PEJ-2014-A-51663
Duration: 19/11/2015 - 19/11/2017

Neurociències

IP: Francina Munell Casadesus
Collaborators: Maria Jose Pérez García
Funding agency: Instituto de Salud Carlos III
Funding: 99000
Reference: CA12/00492
Duration: 31/01/2013 - 30/01/2016

The working hypothesis of this grant is that NMJ dysfunction is contributing to SMA. Therefore we propose to understand the dysfunction of NMJ in SMA and find specific molecules that can restore the NMJ functionality and improve the quality of the life o

IP: Francina Munell Casadesus
Collaborators: Maria Jose Pérez García
Funding agency: AGAUR
Funding: 91022.4
Reference: 2013 BP_B 00083
Duration: 01/10/2014 - 30/09/2016

Exome sequencing of early epileptic encephalopaties data analysis

IP: Alfons Macaya Ruíz
Collaborators: -
Funding agency: AGAUR
Funding: 39231.52
Reference: 2010 BP_A2 00025
Duration: 27/10/2014 - 26/10/2015

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

IP: Alfons Macaya Ruíz
Collaborators: -
Funding agency: Fundació Institut de Recerca HUVH
Funding: 46800
Reference: PRED-VHIR-2014-2
Duration: 16/02/2015 - 15/02/2018

Genetics, epigenetics, cellular electrophysiology and animal models in migraine and allied paroxysmal disorders

IP: Alfons Macaya Ruíz
Collaborators: Marta Vila Pueyo
Funding agency: Fundació Institut de Recerca HUVH
Funding: 42000
Reference: PRED-VHIR-2010-12
Duration: 03/03/2011 - 02/03/2014

Neurociències

IP: Francina Munell Casadesus
Collaborators: Maria Jose Pérez García
Funding agency: Instituto de Salud Carlos III
Funding: 99000
Reference: CA12/00492
Duration: 31/01/2013 - 30/01/2016

The working hypothesis of this grant is that NMJ dysfunction is contributing to SMA. Therefore we propose to understand the dysfunction of NMJ in SMA and find specific molecules that can restore the NMJ functionality and improve the quality of the life o

IP: Francina Munell Casadesus
Collaborators: Maria Jose Pérez García
Funding agency: AGAUR
Funding: 91022.4
Reference: 2013 BP_B 00083
Duration: 01/10/2014 - 30/09/2016

Exome sequencing of early epileptic encephalopaties data analysis

IP: Alfons Macaya Ruíz
Collaborators: -
Funding agency: AGAUR
Funding: 39231.52
Reference: 2010 BP_A2 00025
Duration: 27/10/2014 - 26/10/2015

Genetics, epigenetics, cellular electrophysiology and animal models in migraine and allied paroxysmal disorders

IP: Alfons Macaya Ruíz
Collaborators: Marta Vila Pueyo
Funding agency: Fundació Institut de Recerca HUVH
Funding: 42000
Reference: PRED-VHIR-2010-12
Duration: 03/03/2011 - 02/03/2014

Neurociències

IP: Francina Munell Casadesus
Collaborators: Maria Jose Pérez García
Funding agency: Instituto de Salud Carlos III
Funding: 99000
Reference: CA12/00492
Duration: 31/01/2013 - 30/01/2016

Acciones de los receptores de andrógenos y estrógenos en la diferenciación miogénica y su modulación como estrategia terapéutica para revertir la diferenciación anómala del músculo deficiente en distrofina

IP: Francina Munell Casadesus
Collaborators: Mireia del Toro Riera, Mario Marotta Baleriola
Funding agency: Instituto de Salud Carlos III
Funding: 154275
Reference: PI09/00097
Duration: 01/01/2010 - 31/10/2013

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

Genetics, epigenetics, cellular electrophysiology and animal models in migraine and allied paroxysmal disorders

IP: Alfons Macaya Ruíz
Collaborators: Marta Vila Pueyo
Funding agency: Fundació Institut de Recerca HUVH
Funding: 42000
Reference: PRED-VHIR-2010-12
Duration: 03/03/2011 - 02/03/2014

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

Genes y migraña: clonaje posicional en migraña familiar y expresión en la depresión cortical propagada experimental

IP: Alfons Macaya Ruíz
Collaborators: Patricia Pozo Rosich, Susana Boronat Guerero, Miquel Raspall Chaure, Marta Vila Pueyo
Funding agency: Ministerio de Ciencia e Innovación-MICINN
Funding: 90750.02
Reference: SAF2009-13182-C03-03
Duration: 01/01/2010 - 31/12/2012

Ministerio de Ciencia

Acciones de los receptores de andrógenos y estrógenos en la diferenciación miogénica y su modulación como estrategia terapéutica para revertir la diferenciación anómala del músculo deficiente en distrofina

IP: Francina Munell Casadesus
Collaborators: Mireia del Toro Riera, Mario Marotta Baleriola
Funding agency: Instituto de Salud Carlos III
Funding: 154275
Reference: PI09/00097
Duration: 01/01/2010 - 31/10/2013

Bases genètiques de la malformació de Chiari tipus I.

IP: Alfons Macaya Ruíz
Collaborators: -
Funding agency: AGAUR
Funding: 60147.96
Reference: 2011FI_B2 00093
Duration: 01/01/2009 - 31/12/2011

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

Genetics, epigenetics, cellular electrophysiology and animal models in migraine and allied paroxysmal disorders

IP: Alfons Macaya Ruíz
Collaborators: Marta Vila Pueyo
Funding agency: Fundació Institut de Recerca HUVH
Funding: 42000
Reference: PRED-VHIR-2010-12
Duration: 03/03/2011 - 02/03/2014

Genetic basis of Chiari type I malformation

IP: Alfons Macaya Ruíz
Collaborators: Ma Antonia Poca Pastor, Teresa Vendrell Bayona
Funding agency: Fundació La Marató de TV3
Funding: 194125
Reference: MARATV3_062710
Duration: 07/02/2007 - 30/06/2011

Bases genètiques de la malformació de Chiari tipus I.

IP: Alfons Macaya Ruíz
Collaborators: -
Funding agency: AGAUR
Funding: 60147.96
Reference: 2011FI_B2 00093
Duration: 01/01/2009 - 31/12/2011

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

Genetic basis of Chiari type I malformation

IP: Alfons Macaya Ruíz
Collaborators: Ma Antonia Poca Pastor, Teresa Vendrell Bayona
Funding agency: Fundació La Marató de TV3
Funding: 194125
Reference: MARATV3_062710
Duration: 07/02/2007 - 30/06/2011

Bases genéticas de la malformación de Chiari tipo I

IP: Alfons Macaya Ruíz
Collaborators: Susana Boronat Guerero, Mireia del Toro Riera, Daniel Carranza Rojo
Funding agency: Instituto de Salud Carlos III
Funding: 84216
Reference: PI061606
Duration: 01/01/2007 - 30/09/2010

Abordaje multidiscipplinar de la epilepsia infantil y aplicación en la caracterización fenotípica de subpoblaciones de pacientes

IP: Alfons Macaya Ruíz
Collaborators: Daniel Carranza Rojo
Funding agency: Instituto de Salud Carlos III
Funding:
Reference: CM05/00076
Duration: 01/02/2006 - 31/05/2009

Bases genètiques de la malformació de Chiari tipus I.

IP: Alfons Macaya Ruíz
Collaborators: -
Funding agency: AGAUR
Funding: 60147.96
Reference: 2011FI_B2 00093
Duration: 01/01/2009 - 31/12/2011

epilepsy Research Center del Heielberg Repatriation Hospital. Universitat de Melboune

IP: -
Collaborators: Daniel Carranza Rojo
Funding agency: Instituto de Salud Carlos III
Funding: 936.36
Reference: CM05/00076-EST
Duration: 01/06/2008 - 31/05/2009

Mecanismos moleculares responsables del desarrollo de resistencia a los andrógenos en el cáncer de próstata. Identificación de marcadores predictivos de progresión y de respuesta al tratamiento

IP: Francina Munell Casadesus
Collaborators: Joan Morote Robles
Funding agency: Instituto de Salud Carlos III
Funding: 90440
Reference: PI052684
Duration: 01/01/2006 - 31/05/2009

accions dels estrògens en el desenvolupament i en la progressió cap a l'hormonoresistència en el càncer de pròstata

IP: Francina Munell Casadesus
Collaborators: -
Funding agency: Fundació Institut de Recerca HUVH
Funding: 13200
Reference: PRED/IR-HUVH/41/20040,
Duration: 01/01/2006 - 31/12/2008

Avaluació de gens de susceptibilitat a la migranya mitjançant estudis d'associació a variants polimòrfiques tipus SNP

IP: Alfons Macaya Ruíz
Collaborators: -
Funding agency: Fundació Institut de Recerca HUVH
Funding: 13200
Reference: PRED/IR-HUVH/30/2004
Duration: 01/01/2005 - 31/12/2008

Abordaje multidiscipplinar de la epilepsia infantil y aplicación en la caracterización fenotípica de subpoblaciones de pacientes

IP: Alfons Macaya Ruíz
Collaborators: Daniel Carranza Rojo
Funding agency: Instituto de Salud Carlos III
Funding:
Reference: CM05/00076
Duration: 01/02/2006 - 31/05/2009

epilepsy Research Center del Heielberg Repatriation Hospital. Universitat de Melboune

IP: -
Collaborators: Daniel Carranza Rojo
Funding agency: Instituto de Salud Carlos III
Funding: 936.36
Reference: CM05/00076-EST
Duration: 01/06/2008 - 31/05/2009

accions dels estrògens en el desenvolupament i en la progressió cap a l'hormonoresistència en el càncer de pròstata

IP: Francina Munell Casadesus
Collaborators: -
Funding agency: Fundació Institut de Recerca HUVH
Funding: 13200
Reference: PRED/IR-HUVH/41/20040,
Duration: 01/01/2006 - 31/12/2008

Avaluació de gens de susceptibilitat a la migranya mitjançant estudis d'associació a variants polimòrfiques tipus SNP

IP: Alfons Macaya Ruíz
Collaborators: -
Funding agency: Fundació Institut de Recerca HUVH
Funding: 13200
Reference: PRED/IR-HUVH/30/2004
Duration: 01/01/2005 - 31/12/2008

Abordaje multidiscipplinar de la epilepsia infantil y aplicación en la caracterización fenotípica de subpoblaciones de pacientes

IP: Alfons Macaya Ruíz
Collaborators: Daniel Carranza Rojo
Funding agency: Instituto de Salud Carlos III
Funding:
Reference: CM05/00076
Duration: 01/02/2006 - 31/05/2009

Mecanismos moleculares responsables del desarrollo de resistencia a los andrógenos en el cáncer de próstata. Identificación de marcadores predictivos de progresión y de respuesta al tratamiento

IP: Francina Munell Casadesus
Collaborators: Joan Morote Robles
Funding agency: Instituto de Salud Carlos III
Funding: 90440
Reference: PI052684
Duration: 01/01/2006 - 31/05/2009

Estudio genético de Canalopatías Neuronales: Epilepsia y Ataxia Episódica

IP: -
Collaborators: -
Funding agency: Ministerio de Ciencia e Innovación-MICINN
Funding:
Reference: RYC-2003-4009.
Duration: 15/11/2004 - 01/03/2006

Ministerio de Ciencia

accions dels estrògens en el desenvolupament i en la progressió cap a l'hormonoresistència en el càncer de pròstata

IP: Francina Munell Casadesus
Collaborators: -
Funding agency: Fundació Institut de Recerca HUVH
Funding: 13200
Reference: PRED/IR-HUVH/41/20040,
Duration: 01/01/2006 - 31/12/2008

Avaluació de gens de susceptibilitat a la migranya mitjançant estudis d'associació a variants polimòrfiques tipus SNP

IP: Alfons Macaya Ruíz
Collaborators: -
Funding agency: Fundació Institut de Recerca HUVH
Funding: 13200
Reference: PRED/IR-HUVH/30/2004
Duration: 01/01/2005 - 31/12/2008

Abordaje multidiscipplinar de la epilepsia infantil y aplicación en la caracterización fenotípica de subpoblaciones de pacientes

IP: Alfons Macaya Ruíz
Collaborators: Daniel Carranza Rojo
Funding agency: Instituto de Salud Carlos III
Funding:
Reference: CM05/00076
Duration: 01/02/2006 - 31/05/2009

Acciones de la forma alternativa de la proteína transportadora de esteroides sexuales (SHBGalt) en fertilidad masculina y en cáncer de prostata humanos

IP: Francina Munell Casadesus
Collaborators: Tomas Pinós Figueras
Funding agency: Instituto de Salud Carlos III
Funding:
Reference: BEFI_01/9425
Duration: 26/09/2002 - 30/09/2005

Estudio genético de Canalopatías Neuronales: Epilepsia y Ataxia Episódica

IP: -
Collaborators: -
Funding agency: Ministerio de Ciencia e Innovación-MICINN
Funding:
Reference: RYC-2003-4009.
Duration: 15/11/2004 - 01/03/2006

Ministerio de Ciencia

Avaluació de gens de susceptibilitat a la migranya mitjançant estudis d'associació a variants polimòrfiques tipus SNP

IP: Alfons Macaya Ruíz
Collaborators: -
Funding agency: Fundació Institut de Recerca HUVH
Funding: 13200
Reference: PRED/IR-HUVH/30/2004
Duration: 01/01/2005 - 31/12/2008

Estudio de la expresión de la proteína transportadora de hormonas esteroideas sexuales (SHBG) y de los receptores de estrógenos beta (ERß) durante la espermatogénesis y su posible implicación en los trastornos de fertilidad masculina.

IP: Francina Munell Casadesus
Collaborators: -
Funding agency: Serono España SA
Funding: 18030
Reference: SERONO/01/02
Duration: 01/02/2002 - 31/01/2005

Estudio genético de la migraña hereditaria: Análisis de ligamento y búsqueda de genes responsables en familias españolas

IP: Alfons Macaya Ruíz
Collaborators: -
Funding agency: Ministerio de Ciencia e Innovación-MICINN
Funding:
Reference: FP2000-5484
Duration: 05/07/2001 - 13/10/2004

Ministerio de Ciencia

Acciones de la forma alternativa de la proteína transportadora de esteroides sexuales (SHBGalt) en fertilidad masculina y en cáncer de prostata humanos

IP: Francina Munell Casadesus
Collaborators: Tomas Pinós Figueras
Funding agency: Instituto de Salud Carlos III
Funding:
Reference: BEFI_01/9425
Duration: 26/09/2002 - 30/09/2005

Estudio genético de Canalopatías Neuronales: Epilepsia y Ataxia Episódica

IP: -
Collaborators: -
Funding agency: Ministerio de Ciencia e Innovación-MICINN
Funding:
Reference: RYC-2003-4009.
Duration: 15/11/2004 - 01/03/2006

Ministerio de Ciencia

Estudio genético de la migraña hereditaria: análisis de ligamiento y búsqueda de los genes responsables en familias españolas.

IP: Alfons Macaya Ruíz
Collaborators: -
Funding agency: Ministerio de Ciencia y Tecnología
Funding: 70198.21
Reference: SAF2000-0197
Duration: 01/04/2000 - 01/04/2004

Estudio genético de la migraña hereditaria: Análisis de ligamento y búsqueda de genes responsables en familias españolas

IP: Alfons Macaya Ruíz
Collaborators: -
Funding agency: Ministerio de Ciencia e Innovación-MICINN
Funding:
Reference: FP2000-5484
Duration: 05/07/2001 - 13/10/2004

Ministerio de Ciencia

Acciones de la forma alternativa de la proteína transportadora de esteroides sexuales (SHBGalt) en fertilidad masculina y en cáncer de prostata humanos

IP: Francina Munell Casadesus
Collaborators: Tomas Pinós Figueras
Funding agency: Instituto de Salud Carlos III
Funding:
Reference: BEFI_01/9425
Duration: 26/09/2002 - 30/09/2005

Estudio genético de la migraña hereditaria: análisis de ligamiento y búsqueda de los genes responsables en familias españolas.

IP: Alfons Macaya Ruíz
Collaborators: -
Funding agency: Ministerio de Ciencia y Tecnología
Funding: 70198.21
Reference: SAF2000-0197
Duration: 01/04/2000 - 01/04/2004

Estudio de la expresión de la proteína transportadora de hormonas esteroideas sexuales (SHBG) y de los receptores de estrógenos beta (ERß) durante la espermatogénesis y su posible implicación en los trastornos de fertilidad masculina.

IP: Francina Munell Casadesus
Collaborators: -
Funding agency: Serono España SA
Funding: 18030
Reference: SERONO/01/02
Duration: 01/02/2002 - 31/01/2005

Estudio genético de la migraña hereditaria: Análisis de ligamento y búsqueda de genes responsables en familias españolas

IP: Alfons Macaya Ruíz
Collaborators: -
Funding agency: Ministerio de Ciencia e Innovación-MICINN
Funding:
Reference: FP2000-5484
Duration: 05/07/2001 - 13/10/2004

Ministerio de Ciencia

Acciones de la forma alternativa de la proteína transportadora de esteroides sexuales (SHBGalt) en fertilidad masculina y en cáncer de prostata humanos

IP: Francina Munell Casadesus
Collaborators: Tomas Pinós Figueras
Funding agency: Instituto de Salud Carlos III
Funding:
Reference: BEFI_01/9425
Duration: 26/09/2002 - 30/09/2005

Estudio genético de la migraña hereditaria: análisis de ligamiento y búsqueda de los genes responsables en familias españolas.

IP: Alfons Macaya Ruíz
Collaborators: -
Funding agency: Ministerio de Ciencia y Tecnología
Funding: 70198.21
Reference: SAF2000-0197
Duration: 01/04/2000 - 01/04/2004

Estudio de la expresión de la proteína transportadora de hormonas esteroideas sexuales (SHBG) y de los receptores de estrógenos beta (ERß) durante la espermatogénesis y su posible implicación en los trastornos de fertilidad masculina.

IP: Francina Munell Casadesus
Collaborators: -
Funding agency: Serono España SA
Funding: 18030
Reference: SERONO/01/02
Duration: 01/02/2002 - 31/01/2005

Estudio genético de la migraña hereditaria: Análisis de ligamento y búsqueda de genes responsables en familias españolas

IP: Alfons Macaya Ruíz
Collaborators: -
Funding agency: Ministerio de Ciencia e Innovación-MICINN
Funding:
Reference: FP2000-5484
Duration: 05/07/2001 - 13/10/2004

Ministerio de Ciencia

Estudio genético de la migraña hereditaria: análisis de ligamiento y búsqueda de los genes responsables en familias españolas.

IP: Alfons Macaya Ruíz
Collaborators: -
Funding agency: Ministerio de Ciencia y Tecnología
Funding: 70198.21
Reference: SAF2000-0197
Duration: 01/04/2000 - 01/04/2004

Estudio genético de la migraña hereditaria: análisis de ligamiento y búsqueda de los genes responsables en familias españolas.

IP: Alfons Macaya Ruíz
Collaborators: -
Funding agency: Ministerio de Ciencia y Tecnología
Funding: 70198.21
Reference: SAF2000-0197
Duration: 01/04/2000 - 01/04/2004

Alteraciones en la expresión de genes que regulan la meiosis y la adoptosis durante la espermatogénesis en los trastornos de fertilidad masculina.

IP: Francina Munell Casadesus
Collaborators: -
Funding agency: Instituto de Salud Carlos III
Funding: 24100.59
Reference: 98/0354
Duration: 01/11/1998 - 01/11/1999

Alteraciones en la expresión de genes que regulan la meiosis y la adoptosis durante la espermatogénesis en los trastornos de fertilidad masculina.

IP: Francina Munell Casadesus
Collaborators: -
Funding agency: Instituto de Salud Carlos III
Funding: 24100.59
Reference: 98/0354
Duration: 01/11/1998 - 01/11/1999

Publications

Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial.

PMID: 34942136
Journal: LANCET NEUROLOGY
Year: 2022
Reference: Lancet Neurol. 2022 Jan;21(1):42-52. doi: 10.1016/S1474-4422(21)00367-7.
Impact factor: 44.182
Publication type: Paper in international publication
Authors: Goemans, Nathalie; Mercuri, Eugenio; Deconinck, Nicolas; Mazzone, Elena S; Nascimento, Andres; Oskoui, Maryam; Saito, Kayoko; Vuillerot, Carole; Baranello, Giovanni; Boespflug-Tanguy, Odile et al.
DOI: 10.1016/S1474-4422(21)00367-7

Genetic diagnosis of basal ganglia disease in childhood.

PMID: 34988976
Journal: DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
Year: 2022
Reference: Dev Med Child Neurol. 2022 Jun;64(6):743-752. doi: 10.1111/dmcn.15125. Epub 2022 Jan 5.
Impact factor: 5.449
Publication type: Paper in international publication
Authors: Baide-Mairena, Heidy; Marti-Sanchez, Laura; Marce-Grau, Anna; Cazurro-Gutierrez, Ana; Sanchez-Montanez, Angel; Delgado, Ignacio; Moreno-Galdo, Antonio; Macaya-Ruiz, Alfons; Garcia-Arumi, Elena; Perez-Duenas, Belen et al.
DOI: 10.1111/dmcn.15125

Headache and Vomiting in an 8-Year-Old Girl.

PMID: 35766460
Journal: CLINICAL PEDIATRICS
Year: 2022
Reference: Clin Pediatr (Phila). 2022 Jun 29:99228221106429. doi: 10.1177/00099228221106429.
Impact factor: 1.168
Publication type: Paper in international publication
Authors: Erika, Arno; Alfons, Macaya; Ignacio, Delgado-Alvarez; Ana, Felipe-Rucian; Jorgina, Vila; Duna, Casadesus-Cabral et al.
DOI: 10.1177/00099228221106429

Protein misfolding and clearance in the pathogenesis of a new infantile onset ataxia caused by mutations in PRDX3.

PMID: 35766882
Journal: HUMAN MOLECULAR GENETICS
Year: 2022
Reference: Hum Mol Genet. 2022 Jun 29. pii: 6619440. doi: 10.1093/hmg/ddac146.
Impact factor: 6.15
Publication type: Paper in international publication
Authors: Espinos, Carmen; AIguilera-Albesa, Sergio; Fazzari, Pietro; Perez-Duenas, Belen; Hernandez, Alberto; Soriano-Navarro, Mario; Jenkins, Alison; Marco-Marin, Clara; Miquel-Leal, Javier; Gorria-Redondo, Nerea et al.
DOI: 10.1093/hmg/ddac146

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.

PMID: 34415322
Journal: BRAIN
Year: 2021
Reference: Brain. 2021 Oct 22;144(9):2659-2669. doi: 10.1093/brain/awab124.
Impact factor: 13.501
Publication type: Paper in international publication
Authors: Michaud, Vincent, Goizet, Cyril, Ruiz, Montserrat, Schluter, Agatha, Rouvet, Isabelle, Sala-Coromina, Julia, Fossati, Chiara, Iascone, Maria, Canonico, Francesco, Marce-Grau, Anna et al.
DOI: 10.1093/brain/awab124

Muscarinic Acetylcholine Receptor M1 mutations causing neurodevelopmental disorder and epilepsy.

PMID: 34212451
Journal: HUMAN MUTATION
Year: 2021
Reference: Hum Mutat. 2021 Oct;42(10):1215-1220. doi: 10.1002/humu.24252. Epub 2021 Jul 10.
Impact factor: 4.878
Publication type: Paper in international publication
Authors: Marce-Grau, Anna, Elorza-Vidal, Xabier, Perez-Rius, Carla, Ruiz-Nel Lo, Anna, Sala-Coromina, Julia, Estevez, Raul, Macaya, Alfons, Gabau, Elisabet et al.
DOI: 10.1002/humu.24252

Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated Neurodegeneration.

PMID: 33200489
Journal: MOVEMENT DISORDERS
Year: 2021
Reference: Mov Disord. 2021 Jun;36(6):1342-1352. doi: 10.1002/mds.28392. Epub 2020 Nov 16.
Impact factor: 10.338
Publication type: Paper in international publication
Authors: Klopstock, Thomas, Videnovic, Aleksandar, Bischoff, Almut Turid, Bonnet, Cecilia, Cif, Laura, Greblikas, Feriandas, Burns, Colleen, Comella, Cynthia, Correa-Vela, Marta, Escolar, Maria L et al.
DOI: 10.1002/mds.28392

Dystonia Management: What to Expect From the Future? The Perspectives of Patients and Clinicians Within DystoniaNet Europe.

PMID: 34149592
Journal: Frontiers in Neurology
Year: 2021
Reference: Front Neurol. 2021 Jun 3;12:646841. doi: 10.3389/fneur.2021.646841. eCollection 2021.
Impact factor: 4.003
Publication type: Review in international publication
Authors: Albanese, Alberto, Benson, Monika, Edwards, Mark J, Graessner, Holm, Hutchinson, Michael, Jech, Robert, Krauss, Joachim K, Morgante, Francesca, Perez Duenas, Belen, Reilly, Richard B et al.
DOI: 10.3389/fneur.2021.646841

Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.

PMID: 33629063
Journal: Brain communications
Year: 2020
Reference: Brain Commun. 2020 Oct 26;2(2):fcaa178. doi: 10.1093/braincomms/fcaa178. eCollection 2020.
Impact factor: 0
Publication type: Paper in international publication
Authors: Livingston, John, Kurian, Manju, Chong, W Kling, Dale, Russell C, Hayflick, Susan, Wassmer, Evangeline, Webster, Richard I, Prelog, Kristina, Mohammad, Shekeeb S, Biggin, Andrew et al.
DOI: 10.1093/braincomms/fcaa178

The European Reference Network for Rare Neurological Diseases.

PMID: 33519696
Journal: Frontiers in Neurology
Year: 2020
Reference: Front Neurol. 2021 Jan 14;11:616569. doi: 10.3389/fneur.2020.616569. eCollection 2020.
Impact factor: 2.889
Publication type: Review in international publication
Authors: Krageloh-Mann, Ingeborg, Landwehrmeyer, G Bernhard, Leber, Isabelle, Macaya, Alfons, Mariotti, Caterina, Meissner, Wassilios G, Molnar, Maria Judit, Nonnekes, Jorik, Ortigoza Escobar, Juan Dario, Perez Duenas, Belen et al.
DOI: 10.3389/fneur.2020.616569

Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia.

PMID: 33182294
Journal: Journal of Clinical Medicine
Year: 2020
Reference: J Clin Med. 2020 Nov 9;9(11). pii: jcm9113603. doi: 10.3390/jcm9113603.
Impact factor: 3.303
Publication type: Paper in international publication
Authors: Baz-Redon, Noelia, Rovira-Amigo, Sandra, Fernandez-Cancio, Monica, Castillo-Corullon, Silvia, Cols, Maria, Caballero-Rabasco, M Araceli, Asensio, Oscar, Martin de Vicente, Carlos, Martinez-Colls, Maria Del Mar, Torrent-Vernetta, Alba et al.
DOI: 10.3390/jcm9113603

Cerebrospinal fluid neopterin as a biomarker of neuroinflammatory diseases.

PMID: 33106568
Journal: Scientific Reports
Year: 2020
Reference: Sci Rep. 2020 Oct 26;10(1):18291. doi: 10.1038/s41598-020-75500-z.
Impact factor: 3.998
Publication type: Paper in international publication
Authors: Molero-Luis, Marta, Casas-Alba, Didac, Orellana, Gabriela, Ormazabal, Aida, Sierra, Cristina, Oliva, Clara, Valls, Anna, Velasco, Jesus, Launes, Cristian, Cuadras, Daniel et al.
DOI: 10.1038/s41598-020-75500-z

Sensory Tricks in Pantothenate Kinase-Associated Neurodegeneration: Video-Analysis of 43 Patients.

PMID: 31745482
Journal: Movement disorders clinical practice
Year: 2019
Reference: Mov Disord Clin Pract. 2019 Oct 25;6(8):704-707. doi: 10.1002/mdc3.12842. eCollection 2019 Nov.
Impact factor: 0
Publication type: Letter or abstract
Authors: Martins, Joana, Darling, Alejandra, Espinos, Carmen, Marti, Maria Jose, Duenas, Belen Perez, Temudo, Teresa, Garrido, Cristina et al.
DOI: 10.1002/mdc3.12842

Genetic defects of thiamine transport and metabolism: a review of clinical phenotypes, genetics and functional studies.

PMID: 31095747
Journal: JOURNAL OF INHERITED METABOLIC DISEASE
Year: 2019
Reference: J Inherit Metab Dis. 2019 Jul;42(4):581-597. doi: 10.1002/jimd.12125. Epub 2019 Jun 24.
Impact factor: 4.287
Publication type: Review in international publication
Authors: Perez-Duenas, Belen, Marce-Grau, Anna, Marti-Sanchez, Laura, Baide-Mairena, Heidy, Ortigoza-Escobar, Juan Dario et al.
DOI: 10.1002/jimd.12125

The FOsmetpantotenate Replacement Therapy (FORT) Randomized, Double-Blind, Placebo-Controlled Pivotal Trial: Study Design and Development Methodology of a Novel Primary Efficacy Outcome in Patients With Pantothenate Kinase-Associated Neurodegeneration.

PMID: 31055958
Journal: Clinical Trials
Year: 2019
Reference: Clin Trials. 2019 Aug;16(4):410-418. doi: 10.1177/1740774519845673. Epub 2019 May 6.
Impact factor: 2.257
Publication type: Paper in international publication
Authors: Klopstock, Thomas, Escolar, Maria L, Marshall, Randall D, Perez-Duenas, Belen, Tuller, Sarah, Videnovic, Aleksandar, Greblikas, Feriandas et al.
DOI: 10.1177/1740774519845673

PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression.

PMID: 30340910
Journal: PARKINSONISM & RELATED DISORDERS
Year: 2019
Reference: Parkinsonism Relat Disord. 2019 Apr;61:179-186. doi: 10.1016/j.parkreldis.2018.10.013. Epub 2018 Oct 13.
Impact factor: 4.36
Publication type: Paper in international publication
Authors: Darling, Alejandra, Aguilera-Albesa, Sergio, Tello, Cristina Aisha, Serrano, Mercedes, Tomas, Miguel, Camino-Leon, Rafael, Fernandez-Ramos, Joaquin, Jimenez-Escrig, Adriano, Poo, Pilar, O'Callaghan, Mar et al.
DOI: 10.1016/j.parkreldis.2018.10.013

Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG.

PMID: 30304743
Journal: NEUROPEDIATRICS
Year: 2018
Reference: Neuropediatrics. 2018 Dec;49(6):408-413. doi: 10.1055/s-0038-1673332. Epub 2018 Oct 10.
Impact factor: 1.605
Publication type: Paper in international publication
Authors: Itzep, Debora, Martinez-Monseny, Antonio F, Bolasell, Merce, Cuadras, Daniel, Velazquez-Fragua, Ramon, Gutierrez-Solana, Luis G, Macaya, Alfons, Perez-Duenas, Belen, Serrano, Mercedes, Aguilera-Albesa, Sergio et al.
DOI: 10.1055/s-0038-1673332

Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations.

PMID: 30176098
Journal: HUMAN MUTATION
Year: 2018
Reference: Hum Mutat. 2018 Dec;39(12):1752-1763. doi: 10.1002/humu.23638. Epub 2018 Sep 17.
Impact factor: 5.359
Publication type: Review in national publication
Authors: Navarro-Vilarrubi, Sergi, Casas-Alba, Didac, Martinez-Monseny, Antonio, Pino-Ramirez, Rosa M, Alsina, Laia, Castejon, Esperanza, Palau, Francesc, Garcia-Alix, Alfredo, Serrano, Mercedes, Perez-Duenas, Belen et al.
DOI: 10.1002/humu.23638

Frameless robot-assisted pallidal deep brain stimulation surgery in pediatric patients with movement disorders: precision and short-term clinical results.

PMID: 30028274
Journal: Journal of Neurosurgery-Pediatrics
Year: 2018
Reference: J Neurosurg Pediatr. 2018 Oct;22(4):416-425. doi: 10.3171/2018.5.PEDS1814. Epub 2018 Jul 20.
Impact factor: 2.162
Publication type: Paper in international publication
Authors: Muchart, Jordi, Climent, Alejandra, Ferrer, Enrique, Rumia, Jordi, Perez-Duenas, Belen, Alamar, Mariana, Ortigoza-Escobar, Juan Dario, Vanegas, Maria Isabel, Candela, Santiago, Darling, Alejandra et al.
DOI: 10.3171/2018.5.PEDS1814

Diagnosis and Treatment of Tuberous Sclerosis Manifestations in Children: A Multicenter Study.

PMID: 29558773
Journal: NEUROPEDIATRICS
Year: 2018
Reference: Neuropediatrics. 2018 Jun;49(3):193-199. doi: 10.1055/s-0038-1637738. Epub 2018 Mar 20.
Impact factor: 1.605
Publication type: Paper in international publication
Authors: Flotats-Bastardas, Marina, Ebrahimi-Fakhari, Daniel, Gortner, Ludwig, Zemlin, Michael, Macaya-Ruiz, Alfons, Meyer, Sascha, Poryo, Martin et al.
DOI: 10.1055/s-0038-1637738

A loss-of-function CACNA1A mutation causing benign paroxysmal torticollis of infancy.

PMID: 24445160
Journal: EUR J PAEDIATR NEURO
Year: 2014
Reference: Eur J Paediatr Neurol. 2014 May;18(3):430-3. doi: 10.1016/j.ejpn.2013.12.011. Epub 2014 Jan 8.
Impact factor: 1.934
Publication type: Paper in international publication
Authors: Vila-Pueyo, Marta, Gene, Gemma G, Flotats-Bastardes, Marina, Elorza, Xabier, Sintas, Celia, Valverde, Miguel A, Cormand, Bru, Fernandez-Fernandez, Jose M, Macaya, Alfons et al.
DOI: 10.1016/j.ejpn.2013.12.011

[Clinical variability of polymicrogiria: report of 35 new cases and review of the literature].

PMID: 22972573
Journal: REVISTA DE NEUROLOGIA
Year: 2012
Reference: Rev Neurol. 2012 Sep 16;55(6):321-9.
Impact factor:
Publication type: Letter or abstract
Authors: Flotats-Bastardas, M, Ortega-Aznar, A, Boronat-Guerrero, S, Raspall-Chaure, M, Del Toro-Riera, M, Munell, F, Macaya-Ruiz, A, Roig-Quilis, M, Vazquez-Mendez, E, Sanchez-Montanez, A et al.
DOI:

Thesis

Seqüenciació exòmica en l'estudi molecular de les encefalopaties epilèptiques d'inici precoç

PhD student: Anna Marcé Grau
Director/s: Alfons Macaya Ruíz
University: Universitat Autònoma de Barcelona
Year: 2018

Factors influencing psychiatric outcome in children with neurological conditions: focus on acquired brain injury epilepsy

PhD student: María Teresa Lax Pericall, María Teresa Lax Pericall
Director/s:
University: Universitat Autònoma de Barcelona
Year: 2016

Blog

News

Les malalties minoritàries són greus, poc freqüents i afecten 5 de cada 10.000 persones. N'hi ha més de 7.000, un 80% de les quals són d'origen genètic. Generalment impliquen diversos òrgans i afecten les capacitats físiques, les habilitats mentals i les qualitats sensorials i de comportament de les persones afectades.

Job offers

Laboratory Technician-Pediatric Neurology Group.
Start date:
05/07/2022
End date:
19/07/2022
Document: Download
Study Coordinator-Pediatric neuromuscular registries and trials.
Start date:
12/05/2022
End date:
27/05/2022
Document: Download
PhD researcher in Metabolic Disorders.
Start date:
15/04/2022
End date:
30/04/2022
Document: Download