부산대학교 도서관

Gómez, J Armijo; Liz, M.; Ortez, C.; Domínguez-Carral, J.; Exposito-Escudero, J.; Carrera-Garcia, L.; De Benito, D Natera; Nascimento, A.

Neuromuscular Disorders. 33:S177-S177

Maraña Pérez, A.I. ; Ruiz-Falcó Rojas, M.L.; Puertas Martín, V.; Domínguez Carral, J.; Carreras Sáez, I.; Duat Rodríguez, A.; Sánchez González, V.

In Neurología (English Edition) July-August 2017 32(6):363-370

Domínguez-Carral J; Epilepsy Unit, Department of Child Neurology, Coordinating member of the ERN EpiCARE, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain.; Ortigoza-Escobar JD; Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.; U-703 Center for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.; European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain.

Publisher: Wiley Country of Publication: United States NLM ID: 101630279 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2330-1619 (Electronic) Linking ISSN: 23301619 NLM ISO Abbreviation: Mov Disord Clin Pract Subsets: MEDLINE

Ludlam WG; Department of Neuroscience, The Herbert Wertheim UF Scripps Institute for Biomedical Innovation & Technology, University of Florida, Jupiter, FL 33458, USA.; Domínguez-Carral J; Epilepsy Unit, Department of Child Neurology, Coordinating member of the ERN EpiCARE, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona 08950, Spain.; Schteinschnaider A; Department of Pediatric Neurology, FLENI Institute, Buenos Aires, C1428 AQK, Argentina.; Martemyanov KA; Department of Neuroscience, The Herbert Wertheim UF Scripps Institute for Biomedical Innovation & Technology, University of Florida, Jupiter, FL 33458, USA.; Ortigoza-Escobar JD; Movement Disorders Unit, Department of Child Neurology, Institut de Recerca Sant Joan de Déu, Barcelona 08950, Spain.; U-703 Center for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona 08950, Spain.; European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona 08950, Spain.

Publisher: Elsevier B.V. on behalf of KeAi Communications Co. Ltd Country of Publication: Netherlands NLM ID: 101635967 Publication Model: eCollection Cited Medium: Internet ISSN: 2352-3042 (Electronic) Linking ISSN: 23523042 NLM ISO Abbreviation: Genes Dis Subsets: PubMed not MEDLINE

Bernardi K; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Department Human Neuroscience, Sapienza University, Rome, Italy.; Ortigoza-Escobar JD; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain.; Movement Disorders Unit, Department of Child Neurology, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Dominguez-Carral J; Epilepsy Unit, Department of Child Neurology, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Espinoza-Quinteros I; Pediatric Neurology Unit, Department of Pediatrics, Universidad Peruana Cayetano Heredia, Lima, Perú.; Mendo LD; Pediatric Neurology Unit, Department of Pediatrics, Universidad Peruana Cayetano Heredia, Lima, Perú.; Koy A; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Thiel M; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany. moritz.thiel@uk-koeln.de.

Publisher: BioMed Central Country of Publication: England NLM ID: 101510759 Publication Model: Electronic Cited Medium: Internet ISSN: 1824-7288 (Electronic) Linking ISSN: 17208424 NLM ISO Abbreviation: Ital J Pediatr Subsets: MEDLINE

Wang T; Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Domínguez-Carral J; Epilepsy Unit, Department of Child Neurology, Coordinating Member of the ERN EpiCARE, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain.; Ludlam WG; Department of Neuroscience, The Herbert Wertheim UF Scripps Institute for Biomedical Innovation & Technology, University of Florida, Jupiter, Florida, USA.; Segarra MJ; Department of Rehabilitation, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Marti MF; Department of Rehabilitation, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Bruining H; Amsterdam UMC location University of Amsterdam, Neurodevelopmental Precision Center, Amsterdam Neuroscience, Amsterdam Reproduction and Development, Amsterdam, The Netherlands.; Emma Personalized Medicine Center, Amsterdam UMC, Amsterdam, The Netherlands.; Amsterdam UMC location Vrije Universiteit Amsterdam, Child and Adolescent Psychiatry and Psychosocial Care, Emma Children's Hospital, Amsterdam, The Netherlands.; Martemyanov KA; Department of Neuroscience, The Herbert Wertheim UF Scripps Institute for Biomedical Innovation & Technology, University of Florida, Jupiter, Florida, USA.; Linkenkaer-Hansen K; Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Ortigoza-Escobar JD; Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.; European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain.; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.

Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

Domínguez-Carral J; Epilepsy Unit, Department of Child Neurology, Coordinating member of the ERN EpiCARE, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain.; Reinhard C; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Centre for Rare Diseases, University Hospital Tübingen, Tübingen, Germany.; European Reference Network for Rare Neurological Diseases (ERN-RND), Tübingen, Germany.; Soliani L; European Reference Network for Rare Neurological Diseases (ERN-RND), Tübingen, Germany.; IRCCS Istituto Delle Scienze Neurologiche Di Bologna UOC Neuropsichiatria dell'età Pediatrica, Bologna, Italy.; Dipartimento Di Scienze Mediche E Chirurgiche (DIMEC), Università Di Bologna, Bologna, Italy.; Cif L; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Hôpital Gui de Chauliac, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.; Service de Neurologie, Department of Clinical Neurosciences, Lausanne University Hospital (CHUV), Lausanne, Switzerland.; Laboratoire de Recherche en Neurosciences Cliniques, Montferrier-sur-Lez, France.; Ortigoza-Escobar JD; European Reference Network for Rare Neurological Diseases (ERN-RND), Tübingen, Germany.; Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.; U-703 Center for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.

Publisher: Wiley Country of Publication: United States NLM ID: 101630279 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2330-1619 (Electronic) Linking ISSN: 23301619 NLM ISO Abbreviation: Mov Disord Clin Pract Subsets: MEDLINE

Domínguez-Carral J; Epilepsy Unit, Department of Child Neurology, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Ludlam WG; Department of Neuroscience, The Herbert Wertheim UF Scripps Institute for Biomedical Innovation & Technology, University of Florida, Jupiter, FL, USA.; Junyent Segarra M; Department of Rehabilitation, Hospital Sant Joan de Déu, Barcelona, Spain.; Fornaguera Marti M; Department of Rehabilitation, Hospital Sant Joan de Déu, Barcelona, Spain.; Balsells S; Department of Statistics Institut de Recerca Sant Joan de Déu Barcelona, Barcelona, Spain.; Muchart J; Department of Pediatric Radiology, Hospital Sant Joan de Déu, Barcelona, Spain.; Čokolić Petrović D; Osijek University Hospital Center, Department of Pediatrics, Osijek, Croatia.; Espinoza I; Pediatric Neurology Department, Hospital Nacional Cayetano Heredia, Lima, Peru.; Ortigoza-Escobar JD; Movement Disorders Unit, Department of Child Neurology, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; U-703 Center for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.; European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain.; Martemyanov KA; Department of Neuroscience, The Herbert Wertheim UF Scripps Institute for Biomedical Innovation & Technology, University of Florida, Jupiter, FL, USA.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

Cerulli Irelli E; Department of Human Neurosciences, Sapienza University, Rome, Italy.; Mazzeo A; Department of Human Neurosciences, Sapienza University, Rome, Italy.; Caraballo RH; Department of Neurology, Hospital de Pediatría 'Prof. Dr. Juan P. Garrahan', Buenos Aires, Argentina.; Perulli M; Pediatric Neurology and Psychiatric Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.; Moloney PB; Department of Neurology, Mater Misericordiae University Hospital, Dublin, Ireland.; Peña-Ceballos J; Department of Neurology, Beaumont Hospital, Dublin, Ireland.; Rubino M; Department of Neuroscience, Reproductive Sciences, and Odontostomatology, Federico II University of Naples, Naples, Italy.; Mieszczanek KM; Danish Epilepsy Center, Dianalund, Denmark.; Santangelo A; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.; Licchetta L; Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Delle Scienze Neurologiche di Bologna, Bologna, Italy.; De Giorgis V; Brain and Behavioral Sciences Department, University of Pavia, Pavia, Italy.; Department of Child Neurology and Psychiatry, Childhood and Adolescence Epilepsy Center, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Mondino Foundation, Pavia, Italy.; Reyes Valenzuela G; Department of Neurology, Hospital de Pediatría 'Prof. Dr. Juan P. Garrahan', Buenos Aires, Argentina.; Casellato S; Child Neuropsychiatry Unit, Department of Woman's and Child's Health, Center of Pediatric Epilepsies, Azienda Ospedaliera Universitaria, Sassari, University of Sassari, Sassari, Italy.; Cesaroni E; Child Neurology and Psychiatric Unit, Pediatric Hospital G. Salesi, Azienda Ospedaliero-Universitaria Delle Marche, Ancona, Italy.; Operto FF; Department of Science of Health, School of Medicine, University of Catanzaro, Catanzaro, Italy.; Domínguez-Carral J; Epilepsy Unit, Department of Child Neurology, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Ramírez-Camacho A; Epilepsy Unit, Department of Child Neurology, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Ferretti A; Department of Neuroscience, Mental Health, and Sense Organs, Faculty of Medicine and Psychology, Sant'Andrea Hospital, Rome, Italy.; Santangelo G; Child Neuropsychiatry Department, Itituto Mediterraneo di Eccellenza Pediatrica-Azienda di Rilievo Nazionale ad Alta Sspecializzazione, Civico, Palermo, Italy.; Aledo-Serrano A; Epilepsy and Neurogenetics Unit, Vithas La Milagrosa University Hospital, Vithas Hospital Group, Madrid, Spain.; Rüegger A; Department of Neuropediatrics, University Children's Hospital, Zurich, Switzerland.; Mancardi MM; Child Neuropsychiatry Unit, member of the European Reference Network for Rare and Complex Epilepsies, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Prato G; Child Neuropsychiatry Unit, member of the European Reference Network for Rare and Complex Epilepsies, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Riva A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Bergonzini L; Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Delle Scienze Neurologiche di Bologna, Bologna, Italy.; Cordelli DM; Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Delle Scienze Neurologiche di Bologna, Bologna, Italy.; Bonanni P; Epilepsy and Clinical Neurophysiology Unit, Scientific Institute for Research, Hospitalization and Healthcare, E. Medea, Conegliano, Italy.; Bisulli F; Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Istituto Delle Scienze Neurologiche di Bologna, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.; Di Gennaro G; Istituto di Ricovero e Cura a Carattere Scientifico 'Neuromed', Pozzilli, Italy.; Matricardi S; Department of Pediatrics, University of Chieti-Pescara, Chieti, Italy.; Striano P; Child Neuropsychiatry Unit, member of the European Reference Network for Rare and Complex Epilepsies, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Delanty N; Department of Neurology, Beaumont Hospital, Dublin, Ireland.; School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland.; Research Ireland FutureNeuro Centre, Dublin, Ireland.; Marini C; Child Neurology and Psychiatric Unit, Pediatric Hospital G. Salesi, Azienda Ospedaliero-Universitaria Delle Marche, Ancona, Italy.; Battaglia D; Pediatric Neurology and Psychiatric Unit, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.; Di Bonaventura C; Department of Human Neurosciences, Sapienza University, Rome, Italy.; Ramantani G; Department of Neuropediatrics, University Children's Hospital, Zurich, Switzerland.; Gardella E; Danish Epilepsy Center, Dianalund, Denmark.; University of Southern Denmark, Odense, Denmark.; Orsini A; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.; Coppola A; Department of Neuroscience, Reproductive Sciences, and Odontostomatology, Federico II University of Naples, Naples, Italy.

Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE

Natera-de Benito, D. ; Töpf, A. ; Vilchez, J.J. ; González-Quereda, L. ; Domínguez-Carral, J. ; Díaz-Manera, J. ; Ortez, C. ; Bestué, M. ; Gallano, P. ; Dusl, M. ; Abicht, A. ; Müller, J.S. ; Senderek, J. ; García-Ribes, A. ; Muelas, N. ; Evangelista, T. ; Azuma, Y. ; McMacken, G. ; Paipa Merchan, A. ; Rodríguez Cruz, P.M. ; Camacho, A. ; Jiménez, E. ; Miranda-Herrero, M.C. ; Santana-Artiles, A. ; García-Campos, O. ; Dominguez-Rubio, R. ; Olivé, M. ; Colomer, J. ; Beeson, D. ; Lochmüller, H. ; Nascimento, A.

In Neuromuscular Disorders December 2017 27(12):1087-1098

Maraña Pérez, A.I. ; Duat Rodríguez, A. ; Soto Insuga, V. ; Domínguez Carral, J. ; Puertas Martín, V. ; González Gutiérrez Solana, L.

In Neurología (English Edition) November-December 2015 30(9):561-565

Domínguez-Carral, J. ; López-Pisón, J. ; Macaya, A. ; Bueno Campaña, M. ; García-Pérez, M.A. ; Natera-de Benito, D.

In European Journal of Medical Genetics February 2017 60(2):124-129

Ludlam WG; Department of Neuroscience, The Herbert Wertheim UF Scripps Institute for Biomedical Innovation & Technology, University of Florida, Jupiter, FL, USA.; Soliani L; IRCCS Istituto Delle Scienze Neurologiche Di Bologna UOC Neuropsichiatria dell'età Pediatrica, Bologna, Italy.; Dipartimento Di Scienze Mediche E Chirurgiche (DIMEC), Università Di Bologna, Bologna, Italy.; Domínguez-Carral J; Epilepsy Unit, Department of Child Neurology, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Cordelli DM; IRCCS Istituto Delle Scienze Neurologiche Di Bologna UOC Neuropsichiatria dell'età Pediatrica, Bologna, Italy.; Dipartimento Di Scienze Mediche E Chirurgiche (DIMEC), Università Di Bologna, Bologna, Italy.; Marchiani V; IRCCS Istituto Delle Scienze Neurologiche Di Bologna UOC Neuropsichiatria dell'età Pediatrica, Bologna, Italy.; Gorría-Redondo N; Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitario de Navarra, Pamplona, Spain.; Navarrabiomed Biomedical Research Center, Pamplona, Spain.; Aguilera-Albesa S; Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitario de Navarra, Pamplona, Spain.; Navarrabiomed Biomedical Research Center, Pamplona, Spain.; Martemyanov KA; Department of Neuroscience, The Herbert Wertheim UF Scripps Institute for Biomedical Innovation & Technology, University of Florida, Jupiter, FL, USA. kmartemyanov@ufl.edu.; Department of Neuroscience, The Scripps Research Institute, Jupiter, FL, 33458, USA. kmartemyanov@ufl.edu.; Ortigoza-Escobar JD; Movement Disorders Unit, Department of Child Neurology, Institut de Recerca Sant Joan de Déu, Barcelona, Spain. juandario.ortigoza@sjd.es.; U-703 Center for Biomedical Research On Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain. juandario.ortigoza@sjd.es.; European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain. juandario.ortigoza@sjd.es.; Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Passeig Sant Joan de Déu 2, 08950, Barcelona, Spain. juandario.ortigoza@sjd.es.

Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE

Natera-de Benito, D. ; Domínguez-Carral, J. ; Muelas, N. ; Nascimento, A. ; Ortez, C. ; Jaijo, T. ; Arteaga, R. ; Colomer, J. ; Vilchez, J.J.

In Neuromuscular Disorders November 2016 26(11):789-795

Domínguez-Carral J; Epilepsy Unit, Department of Child Neurology, Coordinating member of the ERN EpiCARE, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain.; Reinhard C; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Centre for Rare Diseases, University Hospital Tübingen, Tübingen, Germany; European Reference Network for Rare Neurological Diseases, Tübingen, Germany.; Yoo J; Patient Representative, Famiglie GNAO1 Italy Association, Rome, Italy.; Soliani L; European Reference Network for Rare Neurological Diseases, Tübingen, Germany; IRCCS Istituto Delle Scienze Neurologiche Di Bologna UOC Neuropsichiatria dell'età Pediatrica, Bologna, Italy; Dipartimento Di Scienze Mediche E Chirurgiche, Università Di Bologna, Bologna, Italy.; Cif L; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Hôpital Gui de Chauliac, Centre Hospitalier Universitaire de Montpellier, Montpellier, France; Service de Neurologie, Department of Clinical Neurosciences, Lausanne University Hospital (CHUV), Lausanne, Switzerland; Laboratoire de Recherche en Neurosciences Cliniques, Montferrier-sur-Lez, France.; Ortigoza-Escobar JD; European Reference Network for Rare Neurological Diseases, Tübingen, Germany; Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain; U-703 Center for Biomedical Research on Rare Diseases, Instituto de Salud Carlos III, Barcelona, Spain. Electronic address: juandario.ortigoza@sjd.es.

Publisher: Elsevier Country of Publication: United States NLM ID: 9804159 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-1403 (Electronic) Linking ISSN: 10947159 NLM ISO Abbreviation: Neuromodulation Subsets: MEDLINE

Maraña Pérez, A.I. ; Ruiz-Falcó Rojas, M.L.; Puertas Martín, V.; Domínguez Carral, J.; Carreras Sáez, I.; Duat Rodríguez, A.; Sánchez González, V.

In Neurología July-August 2017 32(6):363-370

Domínguez Carral J; Member of the ERN EpiCARE, Epilepsy Unit, Department of Child Neurology, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Reinhard C; Centre for Rare Diseases and Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen, Germany.; European Reference Network for Rare Neurological Diseases (ERN-RND), Tübingen, Germany.; Ebrahimi-Fakhari D; Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.; Dorison N; Dyspa Unit, Pediatric Neurosurgery, Hôpital Fondation Rothschild, Paris, France.; Galosi S; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.; Garone G; Neurology, Epilepsy and Movement Disorders Unit, IRCCS Bambino Gesù Children Hospital, Rome, Italy.; Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, Sapienza University of Rome, Rome, Italy.; Malenica M; Member of the ERN EpiCARE, Department of Pediatrics, University Hospital Center Sestre Milosrdnice, Zagreb, Croatia.; Ravelli C; Sorbonne Université, Service de Neuropédiatrie-Pathologie du développement, Centre de référence neurogénétique, Hôpital Trousseau AP-HP.SU, Paris, France.; Serdaroglu E; Department of Pediatric Neurology, Gazi University Faculty of Medicine, Ankara, Türkiye.; van de Pol LA; Emma Children's Hospital, Amsterdam Universitary Medical Centers, Amsterdam, Netherlands.; Department of Child Neurology, Amsterdam Universitary Medical Centers, Vrije Universiteit, Amsterdam, Netherlands.; Koy A; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Leuzzi V; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.; Roubertie A; CHU Montpellier, Département de Neuropédiatrie, INM, Université de Montpellier, Inserm U, Montpellier, France.; Lin JP; Children's Neurosciences Department, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom.; Women and Children's Institute, Faculty of Life Sciences and Medicine (FolSM), King's College London, London, United Kingdom.; Doummar D; Sorbonne Université, Service de Neuropédiatrie-Pathologie du développement, Centre de référence neurogénétique, Hôpital Trousseau AP-HP.SU, Paris, France.; Cif L; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Hôpital Gui de Chauliac, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.; Service de Neurologie, Department of Clinical Neurosciences, Lausanne University Hospital (CHUV), Lausanne, Switzerland.; Laboratoire de Recherche en Neurosciences Cliniques, Montferrier-sur-Lez, France.; Ortigoza-Escobar JD; European Reference Network for Rare Neurological Diseases (ERN-RND), Tübingen, Germany.; Movement Disorders Unit, Department of Child Neurology, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; U-703 Center for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE

Maraña Pérez, A.I. ; Duat Rodríguez, A. ; Soto Insuga, V. ; Domínguez Carral, J. ; Puertas Martín, V. ; González Gutiérrez Solana, L.

In Neurología November-December 2015 30(9):561-565

Ortigoza-Escobar, J. D.; Dominguez-Carral, J.; Perez, J. Romagosa; Schteinschnaider, A.; Soliani, L.; Munoz, D.; Troncoso, M.; Miranda, M. C.; Nieto, J. J.; Salas, A. Camacho; Ludlam, W. G.; Martemyanov, K.; Muchart, J.; Stephan-Otto, C. S.

MOVEMENT DISORDERS; OCT 2025, 40 1p. Supplement: 1

J. Domínguez-Carral; I. Carreras-Sáez; J.J. García-Peñas; C. Fournier-del Castillo; J. Villalobos-Reales

Anales de Pediatría. 82:e117-e121