Alfons Macaya

Alfons Macaya

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Alfons Macaya

Publications by authors named "Alfons Macaya"

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eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics.

Hum Mutat 2019 Jul 21;40(7):865-878. Epub 2019 May 21.

Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.

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http://dx.doi.org/10.1002/humu.23772DOI Listing
July 2019

Executive function and general intellectual functioning in dyskinetic cerebral palsy: Comparison with spastic cerebral palsy and typically developing controls.

Eur J Paediatr Neurol 2019 Jul 21;23(4):546-559. Epub 2019 May 21.

Institut de Neurociències, Departament de Psicologia Clínica i Psicobiologia, Universitat de Barcelona, Passeig Vall d'Hebron 171, 08035, Barcelona, Spain; Institut de Recerca Sant Joan de Déu, Santa Rosa 39-57, 08950, Esplugues de Llobregat, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2019.05.010DOI Listing
July 2019

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 Jul 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 2019

Congenital myasthenic syndrome caused by novel COL13A1 mutations.

J Neurol 2019 May 14;266(5):1107-1112. Epub 2019 Feb 14.

Department of Neurology, Friedrich-Baur-Institute, University Hospital, LMU Munich, Marchioninistrasse 17, 81377, Munich, Germany.

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http://dx.doi.org/10.1007/s00415-019-09239-7DOI Listing
May 2019

From gestalt to gene: early predictive dysmorphic features of PMM2-CDG.

J Med Genet 2019 Apr 21;56(4):236-245. Epub 2018 Nov 21.

Genetics and Molecular Medicine Department and Pediatric Institute of Rare Diseases (IPER), Hospital Sant Joan de Déu, Barcelona, Spain.

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http://dx.doi.org/10.1136/jmedgenet-2018-105588DOI Listing
April 2019

Childhood onset progressive myoclonic dystonia due to a de novo KCTD17 splicing mutation.

Parkinsonism Relat Disord 2019 Apr 8;61:7-9. Epub 2019 Jan 8.

Pediatric Neurology Research Group, Hospital Vall d'Hebrón, Universitat Autònoma de Barcelona, Spain; Faculty of Medicine, Universitat Autònoma de Barcelona, Unitat Docent Vall d'Hebròn, Spain. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S13538020193000
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http://dx.doi.org/10.1016/j.parkreldis.2019.01.004DOI Listing
April 2019

Headache, comorbidities and lifestyle in an adolescent population (The TEENs Study).

Cephalalgia 2019 Jan 17;39(1):91-99. Epub 2018 May 17.

1 Headache & Craniofacial Pain Unit, Neurology Department, Hospital Universitari Vall d'Hebron, Barcelona, Spain.

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http://dx.doi.org/10.1177/0333102418777509DOI Listing
January 2019

Homomeric Kv7.2 current suppression is a common feature in KCNQ2 epileptic encephalopathy.

Epilepsia 2019 Jan 26;60(1):139-148. Epub 2018 Nov 26.

Biofisika Institute, The Spanish National Research Council/University of the Basque Country, Leioa, Spain.

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http://doi.wiley.com/10.1111/epi.14609
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http://dx.doi.org/10.1111/epi.14609DOI Listing
January 2019

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

Neuropediatrics 2018 12 10;49(6):408-413. Epub 2018 Oct 10.

Neuropediatric, Radiology and Clinical Biochemistry Departments, Hospital Sant Joan de Déu, Barcelona, Spain.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1673332
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http://dx.doi.org/10.1055/s-0038-1673332DOI Listing
December 2018

Response to Letter to the Editor.

Neuropediatrics 2018 10 7;49(5):355. Epub 2018 Aug 7.

Pediatric Neurology, Vall d'Hebron University Hospital, UAB, Barcelona, Spain.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1667354
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http://dx.doi.org/10.1055/s-0038-1667354DOI Listing
October 2018

Novel GCH1 Compound Heterozygosity Mutation in Infancy-Onset Generalized Dystonia.

Neuropediatrics 2018 08 22;49(4):296-297. Epub 2018 Feb 22.

Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.

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http://dx.doi.org/10.1055/s-0038-1626709DOI Listing
August 2018

Analysis of shared heritability in common disorders of the brain.

Authors:
Verneri Anttila Brendan Bulik-Sullivan Hilary K Finucane Raymond K Walters Jose Bras Laramie Duncan Valentina Escott-Price Guido J Falcone Padhraig Gormley Rainer Malik Nikolaos A Patsopoulos Stephan Ripke Zhi Wei Dongmei Yu Phil H Lee Patrick Turley Benjamin Grenier-Boley Vincent Chouraki Yoichiro Kamatani Claudine Berr Luc Letenneur Didier Hannequin Philippe Amouyel Anne Boland Jean-François Deleuze Emmanuelle Duron Badri N Vardarajan Christiane Reitz Alison M Goate Matthew J Huentelman M Ilyas Kamboh Eric B Larson Ekaterina Rogaeva Peter St George-Hyslop Hakon Hakonarson Walter A Kukull Lindsay A Farrer Lisa L Barnes Thomas G Beach F Yesim Demirci Elizabeth Head Christine M Hulette Gregory A Jicha John S K Kauwe Jeffrey A Kaye James B Leverenz Allan I Levey Andrew P Lieberman Vernon S Pankratz Wayne W Poon Joseph F Quinn Andrew J Saykin Lon S Schneider Amanda G Smith Joshua A Sonnen Robert A Stern Vivianna M Van Deerlin Linda J Van Eldik Denise Harold Giancarlo Russo David C Rubinsztein Anthony Bayer Magda Tsolaki Petra Proitsi Nick C Fox Harald Hampel Michael J Owen Simon Mead Peter Passmore Kevin Morgan Markus M Nöthen Martin Rossor Michelle K Lupton Per Hoffmann Johannes Kornhuber Brian Lawlor Andrew McQuillin Ammar Al-Chalabi Joshua C Bis Agustin Ruiz Mercè Boada Sudha Seshadri Alexa Beiser Kenneth Rice Sven J van der Lee Philip L De Jager Daniel H Geschwind Matthias Riemenschneider Steffi Riedel-Heller Jerome I Rotter Gerhard Ransmayr Bradley T Hyman Carlos Cruchaga Montserrat Alegret Bendik Winsvold Priit Palta Kai-How Farh Ester Cuenca-Leon Nicholas Furlotte Tobias Kurth Lannie Ligthart Gisela M Terwindt Tobias Freilinger Caroline Ran Scott D Gordon Guntram Borck Hieab H H Adams Terho Lehtimäki Juho Wedenoja Julie E Buring Markus Schürks Maria Hrafnsdottir Jouke-Jan Hottenga Brenda Penninx Ville Artto Mari Kaunisto Salli Vepsäläinen Nicholas G Martin Grant W Montgomery Mitja I Kurki Eija Hämäläinen Hailiang Huang Jie Huang Cynthia Sandor Caleb Webber Bertram Muller-Myhsok Stefan Schreiber Veikko Salomaa Elizabeth Loehrer Hartmut Göbel Alfons Macaya Patricia Pozo-Rosich Thomas Hansen Thomas Werge Jaakko Kaprio Andres Metspalu Christian Kubisch Michel D Ferrari Andrea C Belin Arn M J M van den Maagdenberg John-Anker Zwart Dorret Boomsma Nicholas Eriksson Jes Olesen Daniel I Chasman Dale R Nyholt Andreja Avbersek Larry Baum Samuel Berkovic Jonathan Bradfield Russell J Buono Claudia B Catarino Patrick Cossette Peter De Jonghe Chantal Depondt Dennis Dlugos Thomas N Ferraro Jacqueline French Helle Hjalgrim Jennifer Jamnadas-Khoda Reetta Kälviäinen Wolfram S Kunz Holger Lerche Costin Leu Dick Lindhout Warren Lo Daniel Lowenstein Mark McCormack Rikke S Møller Anne Molloy Ping-Wing Ng Karen Oliver Michael Privitera Rodney Radtke Ann-Kathrin Ruppert Thomas Sander Steven Schachter Christoph Schankin Ingrid Scheffer Susanne Schoch Sanjay M Sisodiya Philip Smith Michael Sperling Pasquale Striano Rainer Surges G Neil Thomas Frank Visscher Christopher D Whelan Federico Zara Erin L Heinzen Anthony Marson Felicitas Becker Hans Stroink Fritz Zimprich Thomas Gasser Raphael Gibbs Peter Heutink Maria Martinez Huw R Morris Manu Sharma Mina Ryten Kin Y Mok Sara Pulit Steve Bevan Elizabeth Holliday John Attia Thomas Battey Giorgio Boncoraglio Vincent Thijs Wei-Min Chen Braxton Mitchell Peter Rothwell Pankaj Sharma Cathie Sudlow Astrid Vicente Hugh Markus Christina Kourkoulis Joana Pera Miriam Raffeld Scott Silliman Vesna Boraska Perica Laura M Thornton Laura M Huckins N William Rayner Cathryn M Lewis Monica Gratacos Filip Rybakowski Anna Keski-Rahkonen Anu Raevuori James I Hudson Ted Reichborn-Kjennerud Palmiero Monteleone Andreas Karwautz Katrin Mannik Jessica H Baker Julie K O'Toole Sara E Trace Oliver S P Davis Sietske G Helder Stefan Ehrlich Beate Herpertz-Dahlmann Unna N Danner Annemarie A van Elburg Maurizio Clementi Monica Forzan Elisa Docampo Jolanta Lissowska Joanna Hauser Alfonso Tortorella Mario Maj Fragiskos Gonidakis Konstantinos Tziouvas Hana Papezova Zeynep Yilmaz Gudrun Wagner Sarah Cohen-Woods Stefan Herms Antonio Julià Raquel Rabionet Danielle M Dick Samuli Ripatti Ole A Andreassen Thomas Espeseth Astri J Lundervold Vidar M Steen Dalila Pinto Stephen W Scherer Harald Aschauer Alexandra Schosser Lars Alfredsson Leonid Padyukov Katherine A Halmi James Mitchell Michael Strober Andrew W Bergen Walter Kaye Jin Peng Szatkiewicz Bru Cormand Josep Antoni Ramos-Quiroga Cristina Sánchez-Mora Marta Ribasés Miguel Casas Amaia Hervas Maria Jesús Arranz Jan Haavik Tetyana Zayats Stefan Johansson Nigel Williams Astrid Dempfle Aribert Rothenberger Jonna Kuntsi Robert D Oades Tobias Banaschewski Barbara Franke Jan K Buitelaar Alejandro Arias Vasquez Alysa E Doyle Andreas Reif Klaus-Peter Lesch Christine Freitag Olga Rivero Haukur Palmason Marcel Romanos Kate Langley Marcella Rietschel Stephanie H Witt Soeren Dalsgaard Anders D Børglum Irwin Waldman Beth Wilmot Nikolas Molly Claiton H D Bau Jennifer Crosbie Russell Schachar Sandra K Loo James J McGough Eugenio H Grevet Sarah E Medland Elise Robinson Lauren A Weiss Elena Bacchelli Anthony Bailey Vanessa Bal Agatino Battaglia Catalina Betancur Patrick Bolton Rita Cantor Patrícia Celestino-Soper Geraldine Dawson Silvia De Rubeis Frederico Duque Andrew Green Sabine M Klauck Marion Leboyer Pat Levitt Elena Maestrini Shrikant Mane Daniel Moreno- De-Luca Jeremy Parr Regina Regan Abraham Reichenberg Sven Sandin Jacob Vorstman Thomas Wassink Ellen Wijsman Edwin Cook Susan Santangelo Richard Delorme Bernadette Rogé Tiago Magalhaes Dan Arking Thomas G Schulze Robert C Thompson Jana Strohmaier Keith Matthews Ingrid Melle Derek Morris Douglas Blackwood Andrew McIntosh Sarah E Bergen Martin Schalling Stéphane Jamain Anna Maaser Sascha B Fischer Céline S Reinbold Janice M Fullerton José Guzman-Parra Fermin Mayoral Peter R Schofield Sven Cichon Thomas W Mühleisen Franziska Degenhardt Johannes Schumacher Michael Bauer Philip B Mitchell Elliot S Gershon John Rice James B Potash Peter P Zandi Nick Craddock I Nicol Ferrier Martin Alda Guy A Rouleau Gustavo Turecki Roel Ophoff Carlos Pato Adebayo Anjorin Eli Stahl Markus Leber Piotr M Czerski Cristiana Cruceanu Ian R Jones Danielle Posthuma Till F M Andlauer Andreas J Forstner Fabian Streit Bernhard T Baune Tracy Air Grant Sinnamon Naomi R Wray Donald J MacIntyre David Porteous Georg Homuth Margarita Rivera Jakob Grove Christel M Middeldorp Ian Hickie Michele Pergadia Divya Mehta Johannes H Smit Rick Jansen Eco de Geus Erin Dunn Qingqin S Li Matthias Nauck Robert A Schoevers Aartjan Tf Beekman James A Knowles Alexander Viktorin Paul Arnold Cathy L Barr Gabriel Bedoya-Berrio O Joseph Bienvenu Helena Brentani Christie Burton Beatriz Camarena Carolina Cappi Danielle Cath Maria Cavallini Daniele Cusi Sabrina Darrow Damiaan Denys Eske M Derks Andrea Dietrich Thomas Fernandez Martijn Figee Nelson Freimer Gloria Gerber Marco Grados Erica Greenberg Gregory L Hanna Andreas Hartmann Matthew E Hirschtritt Pieter J Hoekstra Alden Huang Chaim Huyser Cornelia Illmann Michael Jenike Samuel Kuperman Bennett Leventhal Christine Lochner Gholson J Lyon Fabio Macciardi Marcos Madruga-Garrido Irene A Malaty Athanasios Maras Lauren McGrath Eurípedes C Miguel Pablo Mir Gerald Nestadt Humberto Nicolini Michael S Okun Andrew Pakstis Peristera Paschou John Piacentini Christopher Pittenger Kerstin Plessen Vasily Ramensky Eliana M Ramos Victor Reus Margaret A Richter Mark A Riddle Mary M Robertson Veit Roessner Maria Rosário Jack F Samuels Paul Sandor Dan J Stein Fotis Tsetsos Filip Van Nieuwerburgh Sarah Weatherall Jens R Wendland Tomasz Wolanczyk Yulia Worbe Gwyneth Zai Fernando S Goes Nicole McLaughlin Paul S Nestadt Hans-Jorgen Grabe Christel Depienne Anuar Konkashbaev Nuria Lanzagorta Ana Valencia-Duarte Elvira Bramon Nancy Buccola Wiepke Cahn Murray Cairns Siow A Chong David Cohen Benedicto Crespo-Facorro James Crowley Michael Davidson Lynn DeLisi Timothy Dinan Gary Donohoe Elodie Drapeau Jubao Duan Lieuwe Haan David Hougaard Sena Karachanak-Yankova Andrey Khrunin Janis Klovins Vaidutis Kučinskas Jimmy Lee Chee Keong Svetlana Limborska Carmel Loughland Jouko Lönnqvist Brion Maher Manuel Mattheisen Colm McDonald Kieran C Murphy Igor Nenadic Jim van Os Christos Pantelis Michele Pato Tracey Petryshen Digby Quested Panos Roussos Alan R Sanders Ulrich Schall Sibylle G Schwab Kang Sim Hon-Cheong So Elisabeth Stögmann Mythily Subramaniam Draga Toncheva John Waddington James Walters Mark Weiser Wei Cheng Robert Cloninger David Curtis Pablo V Gejman Frans Henskens Morten Mattingsdal Sang-Yun Oh Rodney Scott Bradley Webb Gerome Breen Claire Churchhouse Cynthia M Bulik Mark Daly Martin Dichgans Stephen V Faraone Rita Guerreiro Peter Holmans Kenneth S Kendler Bobby Koeleman Carol A Mathews Alkes Price Jeremiah Scharf Pamela Sklar Julie Williams Nicholas W Wood Chris Cotsapas Aarno Palotie Jordan W Smoller Patrick Sullivan Jonathan Rosand Aiden Corvin Benjamin M Neale Jonathan M Schott Richard Anney Josephine Elia Maria Grigoroiu-Serbanescu Howard J Edenberg Robin Murray

Science 2018 06;360(6395)

Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.

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http://dx.doi.org/10.1126/science.aap8757DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097237PMC
June 2018

White matter integrity in dyskinetic cerebral palsy: Relationship with intelligence quotient and executive function.

Neuroimage Clin 2017 12;15:789-800. Epub 2017 May 12.

Departament de Psicologia Clínica i Psicobiologia, Universitat de Barcelona, Barcelona, Spain; Institut de Neurociències, Universitat de Barcelona, Barcelona, Spain; Institut de Recerca Pediàtrica, Hospital Sant Joan de Déu, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.nicl.2017.05.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5496484PMC
April 2018

CLCN1 Myotonia congenita mutation with a variable pattern of inheritance suggests a novel mechanism of dominant myotonia.

Muscle Nerve 2018 Feb 9. Epub 2018 Feb 9.

Unitat de Fisiologia, Departament de Ciències Fisiològiques, IDIBELL-Universitat de Barcelona (Institut de Neurociències), L'Hospitalet de Llobregat, Spain.

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http://dx.doi.org/10.1002/mus.26098DOI Listing
February 2018

Cognitive functioning in dyskinetic cerebral palsy: Its relation to motor function, communication and epilepsy.

Eur J Paediatr Neurol 2018 Jan 24;22(1):102-112. Epub 2017 Oct 24.

Departament de Psicologia Clínica i Psicobiologia, Universitat de Barcelona, Barcelona, Spain; Institut de Neurociències, Universitat de Barcelona, Barcelona, Spain; Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2017.10.006DOI Listing
January 2018

Microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome (MEDS). A new patient and review of the literature.

Eur J Med Genet 2017 Oct 12;60(10):517-520. Epub 2017 Jul 12.

Paediatric Neurology Research Group, Vall d'Hebron University Hospital, Passeig Vall d'Hebrón 119-129, 08035 Barcelona, Spain; Autonomous University of Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.ejmg.2017.07.007DOI Listing
October 2017

Erratum to «Recommendations for the multidisciplinary management of tuberous sclerosis complex» [MedClin(Barc)147(5) (2016) 211-216].

Med Clin (Barc) 2017 10;149(7):322

Enfermedades Renales Hereditarias, Fundació Puigvert, IIB Sant Pau, Universitat Autònoma de Barcelona, REDINREN, Barcelona, España. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00257753173065
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http://dx.doi.org/10.1016/j.medcli.2017.08.007DOI Listing
October 2017

Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia.

Sci Rep 2017 05 31;7(1):2514. Epub 2017 May 31.

Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1038/s41598-017-02554-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5451382PMC
May 2017

Transcriptomic Changes in Rat Cortex and Brainstem After Cortical Spreading Depression With or Without Pretreatment With Migraine Prophylactic Drugs.

J Pain 2017 04 3;18(4):366-375. Epub 2016 Dec 3.

Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, Barcelona, Catalonia, Spain; Institut de Biomedicina de la Universitat de Barcelona (IBUB), Barcelona, Catalonia, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Spain; Institut de Recerca Sant Joan de Déu (IRSJD), Esplugues, Barcelona, Catalonia, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jpain.2016.11.007DOI Listing
April 2017

[Enterovirus and neurological complications].

An Pediatr (Barc) 2017 Mar 27;86(3):107-109. Epub 2017 Jan 27.

Sección de Neurología Pediátrica, Hospital Universitari Vall d'Hebron, Barcelona, España; Universidad Autónoma de Barcelona, Barcelona, España.

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http://dx.doi.org/10.1016/j.anpedi.2017.01.001DOI Listing
March 2017

Cephalometric oropharynx and oral cavity analysis in Chiari malformation Type I: a retrospective case-control study.

J Neurosurg 2017 Feb 6;126(2):626-633. Epub 2016 May 6.

Pediatric Neurology Research Group, Vall d'Hebron Research Institute.

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http://dx.doi.org/10.3171/2016.1.JNS151590DOI Listing
February 2017

Dominant-negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxia.

Mov Disord 2016 11 1;31(11):1743-1748. Epub 2016 Aug 1.

Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain.

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http://dx.doi.org/10.1002/mds.26737DOI Listing
November 2016

[Recommendations for the multidisciplinary management of tuberous sclerosis complex].

Med Clin (Barc) 2016 09 18;147(5):211-216. Epub 2016 May 18.

Enfermedades Renales Hereditarias, Fundació Puigvert, IIB Sant Pau, Universitat Autònoma de Barcelona, REDINREN, Barcelona, España. Electronic address:

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http://dx.doi.org/10.1016/j.medcli.2016.04.004DOI Listing
September 2016

Measuring intellectual ability in cerebral palsy: The comparison of three tests and their neuroimaging correlates.

Res Dev Disabil 2016 Sep 2;56:83-98. Epub 2016 Jun 2.

Departament de Psicologia Clínica i Psicobiologia, Universitat de Barcelona, Barcelona, Spain; Institut de Neurociències, Universitat de Barcelona, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ridd.2016.04.009DOI Listing
September 2016

GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females.

Orphanet J Rare Dis 2016 Apr 12;11:38. Epub 2016 Apr 12.

Grup de Recerca en Neurologia Pediàtrica, Vall d'Hebron Institut de Recerca, Universitat Autònoma de Barcelona, Pg Vall d'Hebron 119-129, 08035, Barcelona, Spain.

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http://dx.doi.org/10.1186/s13023-016-0416-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830060PMC
April 2016

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.

Orphanet J Rare Dis 2015 Oct 26;10:138. Epub 2015 Oct 26.

Neuropediatric Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Passeig Sant Joan de Déu, 2. 08950 Esplugues, Barcelona, Spain.

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http://dx.doi.org/10.1186/s13023-015-0358-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4623922PMC
October 2015

Replication study of previous migraine genome-wide association study findings in a Spanish sample of migraine with aura.

Cephalalgia 2015 Aug 11;35(9):776-82. Epub 2014 Nov 11.

Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Spain Institut de Biomedicina de la Universitat de Barcelona (IBUB), Spain Center for Biomedical Network Research on Rare Diseases (CIBERER)-Institute of Health Carlos III, Spain

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http://dx.doi.org/10.1177/0333102414557841DOI Listing
August 2015

MRI-based morphometric analysis of posterior cranial fossa in the diagnosis of chiari malformation type I.

J Neuroimaging 2014 May-Jun;24(3):250-6. Epub 2013 Jan 16.

Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona.

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http://dx.doi.org/10.1111/jon.12007DOI Listing
April 2015

Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe.

J Neurol Sci 2014 Sep 17;344(1-2):37-42. Epub 2014 Jun 17.

Grup de Recerca en Neurologia Pediàtrica, Institut de Recerca Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2014.06.014DOI Listing
September 2014

Recommendations for the radiological diagnosis and follow-up of neuropathological abnormalities associated with tuberous sclerosis complex.

J Neurooncol 2014 Jun 27;118(2):205-223. Epub 2014 Apr 27.

Neuroradiology Department, Hospital Universitario Reina Sofía, Avenida Menéndez Pidal, s/n, 14004, Córdoba, Spain.

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http://dx.doi.org/10.1007/s11060-014-1429-yDOI Listing
June 2014

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

Eur J Paediatr Neurol 2014 May 8;18(3):430-3. Epub 2014 Jan 8.

Grup de Recerca en Neurologia Pediàtrica, Institut de Recerca Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain; Secció de Neurologia Pediàtrica, Hospital Universitari Vall d'Hebron, Barcelona, Spain. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10903798140000
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http://dx.doi.org/10.1016/j.ejpn.2013.12.011DOI Listing
May 2014

Herpes simplex virus encephalitis is a trigger of brain autoimmunity.

Ann Neurol 2014 Feb 25;75(2):317-23. Epub 2014 Feb 25.

August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Neurology Service, Hospital Clinic, University of Barcelona, Barcelona, Spain; Department of Pediatric Neurology, Materno-Infantil Vall d'Hebron Hospital, Autonomous University of Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1002/ana.24083DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3961499PMC
February 2014

Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies.

Mol Genet Genomic Med 2013 Nov 2;1(4):206-22. Epub 2013 Jul 2.

Departament de Genètica, Facultat de Biologia, Universitat de Barcelona Barcelona, Spain ; Institut de Biomedicina de la Universitat de Barcelona (IBUB) Barcelona, Spain ; Center for Biomedical Network Research on Rare Diseases (CIBERER), Institute of Health Carlos III Spain.

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http://dx.doi.org/10.1002/mgg3.24DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865589PMC
November 2013

Chiari malformation type I: a case-control association study of 58 developmental genes.

PLoS One 2013 21;8(2):e57241. Epub 2013 Feb 21.

Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0057241PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3578784PMC
August 2013

Epileptic encephalopathy after HHV6 post-transplant acute limbic encephalitis in children: confirmation of a new epilepsy syndrome.

Epilepsy Res 2013 Aug 25;105(3):419-22. Epub 2013 Mar 25.

Department of Paediatric Neurology, Hospital Universitari Vall d'Hebron, Spain.

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http://dx.doi.org/10.1016/j.eplepsyres.2013.02.019DOI Listing
August 2013

Brainstem dysgenesis during the neonatal period: diagnosis and management.

J Perinat Med 2013 Jul;41(4):445-53

Department of Neonatology, Hospital Universitari Materno-Infantil Vall d ’Hebron, Barcelona, Spain.

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http://dx.doi.org/10.1515/jpm-2012-0261DOI Listing
July 2013

Cortical thickness and behavior abnormalities in children born preterm.

PLoS One 2012 30;7(7):e42148. Epub 2012 Jul 30.

Department of Psychiatry and Clinical Psychobiology, Faculty of Medicine, University of Barcelona, Barcelona, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0042148PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3408470PMC
January 2013

A replication study of a GWAS finding in migraine does not identify association in a Spanish case-control sample.

Cephalalgia 2012 Oct 20;32(14):1076-80. Epub 2012 Aug 20.

Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, 08028 Barcelona, Spain.

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http://dx.doi.org/10.1177/0333102412457090DOI Listing
October 2012

Head circumference growth function as a marker of neurological impairment in a cohort of microcephalic infants and children.

Neuropediatrics 2012 Oct 29;43(5):271-4. Epub 2012 Aug 29.

Secció de Neurologia Infantil, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona and Unitat de Neurologia Pediàtrica, Consorci Sanitari de Terrassa, Spain.

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http://dx.doi.org/10.1055/s-0032-1324733DOI Listing
October 2012

Acute striatal necrosis in hemiplegic migraine with de novo CACNA1A mutation.

Headache 2011 Nov-Dec;51(10):1542-6

Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain.

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http://doi.wiley.com/10.1111/j.1526-4610.2011.02014.x
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http://dx.doi.org/10.1111/j.1526-4610.2011.02014.xDOI Listing
September 2012

Thalamic changes in a preterm sample with periventricular leukomalacia: correlation with white-matter integrity and cognitive outcome at school age.

Pediatr Res 2012 Apr 15;71(4 Pt 1):354-60. Epub 2012 Feb 15.

Department of Psychiatry and Clinical Psychobiology, Faculty of Medicine, University of Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1038/pr.2011.70DOI Listing
April 2012

Central hypoventilation and brainstem dysgenesis.

Pediatr Neurol 2012 Apr;46(4):257-9

Department of Pediatric Neurology, Hospital Universitari Materno-Infantil Vall d'Hebron, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.pediatrneurol.2012.02.011DOI Listing
April 2012

Paroxysmal non-kinesigenic dyskinesia due to a PNKD recurrent mutation: report of two Southern European families.

Eur J Paediatr Neurol 2012 Jan 1;16(1):86-9. Epub 2011 Oct 1.

First Department of Pediatrics, Agia Sofia Hospital, University of Athens, Greece.

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https://linkinghub.elsevier.com/retrieve/pii/S10903798110019
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http://dx.doi.org/10.1016/j.ejpn.2011.09.008DOI Listing
January 2012

SNP variants within the vanilloid TRPV1 and TRPV3 receptor genes are associated with migraine in the Spanish population.

Am J Med Genet B Neuropsychiatr Genet 2012 Jan 7;159B(1):94-103. Epub 2011 Dec 7.

Facultat de Biologia, Departament de Genètica, Universitat de Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1002/ajmg.b.32007DOI Listing
January 2012

Gray matter volume decrements in preterm children with periventricular leukomalacia.

Pediatr Res 2011 Jun;69(6):554-60

Department of Psychiatry and Clinical Psychobiology, Faculty of Medicine, University of Barcelona, Barcelona 08036, Spain.

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http://dx.doi.org/10.1203/PDR.0b013e3182182366DOI Listing
June 2011

A mutation in the first intracellular loop of CACNA1A prevents P/Q channel modulation by SNARE proteins and lowers exocytosis.

Proc Natl Acad Sci U S A 2010 Jan 8;107(4):1672-7. Epub 2010 Jan 8.

Laboratory of Molecular Physiology and Channelopathies, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, 08003 Barcelona, Spain.

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http://dx.doi.org/10.1073/pnas.0908359107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2824376PMC
January 2010

Two-stage case-control association study of dopamine-related genes and migraine.

BMC Med Genet 2009 Sep 21;10:95. Epub 2009 Sep 21.

Grup de Recerca en Neurologia Infantil, Hospital Universitari Vall d'Hebron, Barcelona, Spain.

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http://dx.doi.org/10.1186/1471-2350-10-95DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2758864PMC
September 2009

Familial hemiplegic migraine: linkage to chromosome 14q32 in a Spanish kindred.

Neurogenetics 2009 Jul 20;10(3):191-8. Epub 2009 Jan 20.

Grup de Recerca en Neurologia Infantil i Psiquiatria Genètica, Institut de Recerca Hospital Universitari Vall d'Hebron, Pg. Vall d'Hebron 119-129, 08035 Barcelona, Spain.

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http://dx.doi.org/10.1007/s10048-008-0169-6DOI Listing
July 2009

The hemiplegic migraine-associated Y1245C mutation in CACNA1A results in a gain of channel function due to its effect on the voltage sensor and G-protein-mediated inhibition.

Pflugers Arch 2009 Jul 3;458(3):489-502. Epub 2009 Feb 3.

Department of Experimental and Health Sciences, Laboratory of Molecular Physiology and Channelopathies, Universitat Pompeu Fabra, Edifici PRBB, Barcelona, Spain.

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http://link.springer.com/10.1007/s00424-009-0637-3
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http://dx.doi.org/10.1007/s00424-009-0637-3DOI Listing
July 2009

Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene.

J Neurol Sci 2009 May 20;280(1-2):10-4. Epub 2009 Feb 20.

Grup de Recerca en Neurologia Infantil i Psiquiatria Genètica, Hospital Universitari Vall d'Hebron, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.jns.2009.01.005DOI Listing
May 2009

Contribution of syntaxin 1A to the genetic susceptibility to migraine: a case-control association study in the Spanish population.

Neurosci Lett 2009 May 6;455(2):105-9. Epub 2009 Mar 6.

Grup de Recerca en Neurologia Infantil i Psiquiatria Genètica, Hospital Universitari Vall d'Hebron, Barcelona, Spain.

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http://dx.doi.org/10.1016/j.neulet.2009.03.011DOI Listing
May 2009

Neonatal rigid-akinetic syndrome and dentato-olivary dysplasia.

Pediatr Neurol 2006 Feb;34(2):132-4

Pediatric Neurology Section, Hospital Universitari Vall d'Hebron, Barcelona, Spain.

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http://linkinghub.elsevier.com/retrieve/pii/S088789940500414
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http://dx.doi.org/10.1016/j.pediatrneurol.2005.08.003DOI Listing
February 2006

Clinical and biochemical spectrum of D-bifunctional protein deficiency.

Ann Neurol 2006 Jan;59(1):92-104

Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, University of Amsterdam, Emma Children's Hospital, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.

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http://dx.doi.org/10.1002/ana.20702DOI Listing
January 2006

Brainstem dysgenesis: report of five patients with congenital hypotonia, multiple cranial nerve involvement, and ocular motor apraxia.

Dev Med Child Neurol 2003 Jul;45(7):489-93

Secció de Neurologia Infantil, Hospital Universitari Vail d'Hebron, Barcelona, Spain.

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http://dx.doi.org/10.1017/s0012162203000902DOI Listing
July 2003

Naturally occurring cell death during postnatal development of rat skeletal muscle.

Muscle Nerve 2002 Dec;26(6):777-83

Unitat de Recerca Biomèdica, Hospital Materno-Infantil Vall d'Hebron, Barcelona, Spain.

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http://dx.doi.org/10.1002/mus.10268DOI Listing
December 2002