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Alfons Macaya

Showing results (31-40 of 137) with videos related to

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European Journal of Medical Genetics|July 17, 2017
Microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome (MEDS). A new patient and review of the literatureIrene Valenzuela, Susana Boronat, Elena Martínez-Sáez, et al.
American Journal of Medical Genetics. Part A|January 18, 2006
A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr-Tranebjaerg) syndromeLuis A Aguirre, Ignacio del Castillo, Alfons Macaya, et al.
Journal of Neurosurgery|October 21, 2017
Machine learning applied to neuroimaging for diagnosis of adult classic Chiari malformation: role of the basion as a key morphometric indicatorAintzane Urbizu, Bryn A Martin, Dulce Moncho, et al.
Journal of Neurology|February 16, 2019
Congenital myasthenic syndrome caused by novel COL13A1 mutationsMarina Dusl, Teresa Moreno, Francina Munell, et al.
Pediatric Research|March 10, 2011
Gray matter volume decrements in preterm children with periventricular leukomalaciaLeire Zubiaurre-Elorza, Sara Soria-Pastor, Carme Junque, et al.
Cephalalgia : an International Journal of Headache|November 13, 2014
Replication study of previous migraine genome-wide association study findings in a Spanish sample of migraine with auraCèlia Sintas, Jèssica Fernández-Morales, Marta Vila-Pueyo, et al.
Journal of the Neurological Sciences|July 13, 2010
Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutationAintzane Urbizu, Ester Cuenca-León, Miquel Raspall-Chaure, et al.
BMC Medical Genetics|September 24, 2009
Two-stage case-control association study of dopamine-related genes and migraineRoser Corominas, Marta Ribases, Montserrat Camiña, et al.
Journal of Neuro-Oncology|April 29, 2014
Recommendations for the radiological diagnosis and follow-up of neuropathological abnormalities associated with tuberous sclerosis complexÀlex Rovira, María Luz Ruiz-Falcó, Elena García-Esparza, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 2, 2016
Dominant-negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxiaEnriqueta Tristán-Clavijo, Francisco G Scholl, Alfons Macaya, et al.
Pageof 14

Showing results (31-40 of 137) with videos related to

Sort By:
Pageof 14
European Journal of Medical Genetics|July 17, 2017
Microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome (MEDS). A new patient and review of the literatureIrene Valenzuela, Susana Boronat, Elena Martínez-Sáez, et al.
American Journal of Medical Genetics. Part A|January 18, 2006
A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr-Tranebjaerg) syndromeLuis A Aguirre, Ignacio del Castillo, Alfons Macaya, et al.
Journal of Neurosurgery|October 21, 2017
Machine learning applied to neuroimaging for diagnosis of adult classic Chiari malformation: role of the basion as a key morphometric indicatorAintzane Urbizu, Bryn A Martin, Dulce Moncho, et al.
Journal of Neurology|February 16, 2019
Congenital myasthenic syndrome caused by novel COL13A1 mutationsMarina Dusl, Teresa Moreno, Francina Munell, et al.
Pediatric Research|March 10, 2011
Gray matter volume decrements in preterm children with periventricular leukomalaciaLeire Zubiaurre-Elorza, Sara Soria-Pastor, Carme Junque, et al.
Cephalalgia : an International Journal of Headache|November 13, 2014
Replication study of previous migraine genome-wide association study findings in a Spanish sample of migraine with auraCèlia Sintas, Jèssica Fernández-Morales, Marta Vila-Pueyo, et al.
Journal of the Neurological Sciences|July 13, 2010
Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutationAintzane Urbizu, Ester Cuenca-León, Miquel Raspall-Chaure, et al.
BMC Medical Genetics|September 24, 2009
Two-stage case-control association study of dopamine-related genes and migraineRoser Corominas, Marta Ribases, Montserrat Camiña, et al.
Journal of Neuro-Oncology|April 29, 2014
Recommendations for the radiological diagnosis and follow-up of neuropathological abnormalities associated with tuberous sclerosis complexÀlex Rovira, María Luz Ruiz-Falcó, Elena García-Esparza, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 2, 2016
Dominant-negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxiaEnriqueta Tristán-Clavijo, Francisco G Scholl, Alfons Macaya, et al.
Pageof 14