Juan Dario Ortigoza-Escobar (Juan D Ortigoza-Escobar, Juan Dario-Ortigoza-Escobar, Juan Darío Ortigoza-Escobar)

Scopus Author ID Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 32

Top Venues

Movement disorders : official journal of the Movement Disorder Society

Movement disorders clinical practice

Journal of neurology

Clinical case reports

Hospital Sant Joan de Déu

Hospital Sant Joan de Deu (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Hospital Sant Joan de Déu

Spain

Movement Disorders Unit :: Pediatric Neurology

Education History

Hospital Sant Joan de Deu

Spain

PHD :: Pediatric Neurology

Publications

William Grant Ludlam, Luca Soliani, Jana Domínguez-Carral, Duccio Maria Cordelli, Valentina Marchiani, Nerea Gorría-Redondo, Sergio Aguilera-Albesa, Kirill A Martemyanov, Juan Dario Ortigoza-Escobar
Diverse faces of GNAO1: mild forms in epilepsy and autism. Journal of neurology 271 (7) (2024)
Beatriz Carmona-Hidalgo, Carmen Martín-Gómez, Estefanía Herrera-Ramos, Rocío Rodríguez-López, Laia-Nou Fontanet, José C Moreno, Juan Antonio Blasco-Amaro, Juliane Léger, Juan Dario Ortigoza-Escobar, null null
Systematic review of thyroid function in NKX2-1-related disorders: Screening and diagnosis. PloS one 19 (7) (2024)
Juan Dario Ortigoza-Escobar, Mina Zamani, Nathalie Dorison, Saeid Sadeghian, Reza Azizimalamiri, Javeria Raza Alvi, Tipu Sultan, Hamid Galehdari, Gholamreza Shariati, Alihossein Saberi, Lisette Leeuwen, Giovanni Zifarelli, Peter Bauer, Vincent d'Hardemare, Diane Doummar, Emmanuel Roze, Lorena Travaglini, Francesco Nicita, Núria Ojea Ponce, Seyed Mohammadsaleh Zahraei, Lama Alabdi, Abdullah Tamim, Mais O Hashem, Faroug Ababneh, Michelle M Morrow, Cynthia Curry, Allison Tam, Jessica Ruedy, Vikas Bhambhani, Regan Veith, Petter Strømme, Stephanie Efthymiou, Fowzan S Alkuraya, Andrés Moreno De Luca, Lydie Burglen, Henry Houlden, Reza Maroofian
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders. Movement disorders : official journal of the Movement Disorder Society (2024)
Juan Dario Ortigoza-Escobar, Mina Zamani, Nathalie Dorison, Saeid Sadeghian, Reza Azizimalamiri, Javeria Raza Alvi, Tipu Sultan, Hamid Galehdari, Gholamreza Shariati, Alihossein Saberi, Lisette Leeuwen, Giovanni Zifarelli, Peter Bauer, Vincent d'Hardemare, Diane Doummar, Emmanuel Roze, Lorena Travaglini, Francesco Nicita, Núria Ojea Ponce, Seyed Mohammadsaleh Zahraei, Lama Alabdi, Abdullah Tamim, Mais O Hashem, Faroug Ababneh, Michelle M Morrow, Cynthia Curry, Allison Tam, Jessica Ruedy, Vikas Bhambhani, Regan Veith, Petter Strømme, Stephanie Efthymiou, Fowzan S Alkuraya, Andrés Moreno De Luca, Lydie Burglen, Henry Houlden, Reza Maroofian
Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders. Movement disorders : official journal of the Movement Disorder Society (2024)
Rauan Kaiyrzhanov, Juan Dario Ortigoza-Escobar, Brett W Stringer, Manizha Ganieva, Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Alfons Macaya, Andreas Laner, Enas Onbool, Randa Al-Shammari, Mohammed Al-Owain, Nicolas Deconinck, Catheline Vilain, Pauline Dontaine, Eleanor Self, Rabia Akram, Ghulam Hussain, Shahid Mahmood Baig, Javed Iqbal, Vincenzo Salpietro, Maedeh Neshatdoust, Mahboubeh Kasiri, Gozde Yesil Sayın, Turkan Uygur, Karen Pysden, Ian R Berry, Cesar Augusto Alves, Jean Giacomotto, Henry Houlden, Reza Maroofian
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia. Movement disorders : official journal of the Movement Disorder Society 39 (6) (2024)
Rauan Kaiyrzhanov, Juan Dario Ortigoza-Escobar, Brett W Stringer, Manizha Ganieva, Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Alfons Macaya, Andreas Laner, Enas Onbool, Randa Al-Shammari, Mohammed Al-Owain, Nicolas Deconinck, Catheline Vilain, Pauline Dontaine, Eleanor Self, Rabia Akram, Ghulam Hussain, Shahid Mahmood Baig, Javed Iqbal, Vincenzo Salpietro, Maedeh Neshatdoust, Mahboubeh Kasiri, Gozde Yesil Sayın, Turkan Uygur, Karen Pysden, Ian R Berry, Cesar Augusto Alves, Jean Giacomotto, Henry Houlden, Reza Maroofian
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia. Movement disorders : official journal of the Movement Disorder Society 39 (6) (2024)
Beatriz Carmona-Hidalgo, Carmen Martín-Gómez, Estefanía Herrera-Ramos, Rocío Rodríguez-López, Laia-Nou Fontanet, José C Moreno, Juan Antonio Blasco-Amaro, Juliane Léger, Juan Dario Ortigoza-Escobar, null null
Systematic review of thyroid function in NKX2-1-related disorders: Screening and diagnosis. PloS one 19 (7) (2024)
Rauan Kaiyrzhanov, Juan Dario Ortigoza-Escobar, Brett W Stringer, Manizha Ganieva, Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Alfons Macaya, Andreas Laner, Enas Onbool, Randa Al-Shammari, Mohammed Al-Owain, Nicolas Deconinck, Catheline Vilain, Pauline Dontaine, Eleanor Self, Rabia Akram, Ghulam Hussain, Shahid Mahmood Baig, Javed Iqbal, Vincenzo Salpietro, Maedeh Neshatdoust, Mahboubeh Kasiri, Gozde Yesil Sayın, Turkan Uygur, Karen Pysden, Ian R Berry, Cesar Augusto Alves, Jean Giacomotto, Henry Houlden, Reza Maroofian
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia. Movement disorders : official journal of the Movement Disorder Society 39 (6) (2024)
William Grant Ludlam, Luca Soliani, Jana Domínguez-Carral, Duccio Maria Cordelli, Valentina Marchiani, Nerea Gorría-Redondo, Sergio Aguilera-Albesa, Kirill A Martemyanov, Juan Dario Ortigoza-Escobar
Diverse faces of GNAO1: mild forms in epilepsy and autism. Journal of neurology 271 (7) (2024)
Laia Nou-Fontanet, Laura Martí-Sánchez, Loreto Martorell, Jesús Casas, Juan Dario Ortigoza-Escobar
Atypical Mowat-Wilson Syndrome: Dystonia, Choreoathetosis and Cognitive Features. Movement disorders clinical practice (2024)
Laia Nou-Fontanet, Laura Martí-Sánchez, Loreto Martorell, Jesús Casas, Juan Dario Ortigoza-Escobar
Atypical Mowat-Wilson Syndrome: Dystonia, Choreoathetosis and Cognitive Features. Movement disorders clinical practice 11 (7) (2024)
William Grant Ludlam, Luca Soliani, Jana Domínguez-Carral, Duccio Maria Cordelli, Valentina Marchiani, Nerea Gorría-Redondo, Sergio Aguilera-Albesa, Kirill A Martemyanov, Juan Dario Ortigoza-Escobar
Diverse faces of GNAO1: mild forms in epilepsy and autism. Journal of neurology 271 (7) (2024)
Rauan Kaiyrzhanov, Juan Dario Ortigoza-Escobar, Brett W Stringer, Manizha Ganieva, Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Alfons Macaya, Andreas Laner, Enas Onbool, Randa Al-Shammari, Mohammed Al-Owain, Nicolas Deconinck, Catheline Vilain, Pauline Dontaine, Eleanor Self, Rabia Akram, Ghulam Hussain, Shahid Mahmood Baig, Javed Iqbal, Vincenzo Salpietro, Maedeh Neshatdoust, Mahboubeh Kasiri, Gozde Yesil Sayın, Turkan Uygur, Karen Pysden, Ian R Berry, Cesar Augusto Alves, Jean Giacomotto, Henry Houlden, Reza Maroofian
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia. Movement disorders : official journal of the Movement Disorder Society (2024)
Beatriz Carmona-Hidalgo, Carmen Martín-Gómez, Estefanía Herrera-Ramos, Rocío Rodríguez-López, Laia-Nou Fontanet, José C Moreno, Juan Antonio Blasco-Amaro, Juliane Léger, Juan Dario Ortigoza-Escobar, null null
Systematic review of thyroid function in NKX2-1-related disorders: Screening and diagnosis. PloS one 19 (7) (2024)
William Grant Ludlam, Luca Soliani, Jana Domínguez-Carral, Duccio Maria Cordelli, Valentina Marchiani, Nerea Gorría-Redondo, Sergio Aguilera-Albesa, Kirill A Martemyanov, Juan Dario Ortigoza-Escobar
Diverse faces of GNAO1: mild forms in epilepsy and autism. Journal of neurology (2024)
Laia Nou-Fontanet, Laura Martí-Sánchez, Loreto Martorell, Jesús Casas, Juan Dario Ortigoza-Escobar
Atypical Mowat-Wilson Syndrome: Dystonia, Choreoathetosis and Cognitive Features. Movement disorders clinical practice 11 (7) (2024)
Juan Dario Ortigoza-Escobar
Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism. Tremor and other hyperkinetic movements (New York, N.Y.) 13 (2023)
Maria Eugenia Amato, Silvia Ricart, Maria Asunción Vicente, Loreto Martorell, Judith Armstrong, Guerau Fernández Isern, José Manuel Mascaro, Sol Balsells, Itziar Alonso, Mercedes Serrano, Juan Dario Ortigoza-Escobar
Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report. Clinical case reports 11 (4) (2023)
Maria Eugenia Amato, Silvia Ricart, Maria Asunción Vicente, Loreto Martorell, Judith Armstrong, Guerau Fernández Isern, José Manuel Mascaro, Sol Balsells, Itziar Alonso, Mercedes Serrano, Juan Dario Ortigoza-Escobar
Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report. Clinical case reports 11 (4) (2023)
Laia Nou-Fontanet, Carmen Martín-Gómez, Rebeca Isabel-Gómez, Anne-Catherine Bachoud-Lévi, Giovanna Zorzi, Alessandro Capuano, null null, Juan Antonio Blasco-Amaro, Juan Dario Ortigoza-Escobar
Systematic review of drug therapy for chorea in NXK2-1-related disorders: Efficacy and safety evidence from case studies and series. European journal of neurology (2023)
Laia Nou-Fontanet, Deyanira García-Navas, Hilario Gómez-Martín, Loreto Martorell, Juan Dario Ortigoza-Escobar
Action Induced Myoclonus in a 11-Year-Old Boy with Silver-Russell Syndrome. Movement disorders clinical practice 10 (6) (2023)
Maria Eugenia Amato, Silvia Ricart, Maria Asunción Vicente, Loreto Martorell, Judith Armstrong, Guerau Fernández Isern, José Manuel Mascaro, Sol Balsells, Itziar Alonso, Mercedes Serrano, Juan Dario Ortigoza-Escobar
Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report. Clinical case reports 11 (4) (2023)
Luca Soliani, Adrián Alcalá San Martín, Sol Balsells, Cristina Hernando-Davalillo, Juan Dario Ortigoza-Escobar
Chromosome Microarray Analysis for the Investigation of Deletions in Pediatric Movement Disorders: A Systematic Review of the Literature. Movement disorders clinical practice 10 (4) (2023)
Jordi Pijuan, Irina F Sevrioukova, Óscar García-Campos, Mar Hernaez, Laura Gort, Marta Gómez-Chiari, Cristina Jou, Santiago Candela-Cantó, Jordi Rumiá, Rafael Artuch, Francesc Palau, Janet Hoenicka, Juan Dario Ortigoza-Escobar
A Novel AIFM1-Related Disorder Phenotype Treated with Deep Brain Stimulation. Movement disorders : official journal of the Movement Disorder Society (2023)
Sonia de Pedro Baena, Andrea Sariego Jamardo, Pedro Castro, Francisco Javier López González, Rocío Sánchez-Carpintero, Alfredo Cerisola, Monica Troncoso, Scarlet Witting, Andrés Barrios, Carmen Fons, Javier López Pisón, Juan Dario Ortigoza-Escobar
Exploring the Spectrum of RHOBTB2 Variants Associated with Developmental Encephalopathy 64: A Case Series and Literature Review. Movement disorders clinical practice 10 (11) (2023)
Anna Revert Barberà, Guerau Fernández Isern, Juan Dario Ortigoza-Escobar
Early Onset Nonprogressive Generalized Dystonia Is Caused by Biallelic SHQ1 Variants. Movement disorders : official journal of the Movement Disorder Society 38 (6) (2023)
Delia Yubero, Loreto Martorell, Tania Nunes, Gholson J Lyon, Juan Dario Ortigoza-Escobar
Neurodevelopmental Gene-Related Dystonia: A Pediatric Case with NAA15 Variant. Movement disorders : official journal of the Movement Disorder Society 37 (11) (2022)
Loreto Martorell, Alfons Macaya, Belen Perez-Duenas, Juan Dario Ortigoza-Escobar
Acetazolamide Improves Episodic Ataxia in a Patient with Non-Verbal Autism and Paroxysmal Dyskinesia Due To PRRT2 Biallelic Variants. Movement disorders clinical practice 9 (7) (2022)
Cristina Hernando-Davalillo, Adrián Alcalá San Martín, Mar Borregan Prats, Juan Dario Ortigoza-Escobar
De novo 4q35.2 duplication containing FAT1 is associated with autism spectrum disorder. Clinical genetics 102 (5) (2022)
Luca Soliani, Loreto Martorell, Delia Yubero, Carla Verges, Vincent Petit, Juan Dario Ortigoza-Escobar
Paroxysmal Non-Kinesigenic Dyskinesia: Utility of the Quantification of GLUT1 in Red Blood Cells. Movement disorders clinical practice 9 (2) (2021)
Jordi Pijuan, Juan Dario Ortigoza-Escobar, Juan Ortiz, Adrián Alcalá, María José Calvo, Mariona Cubells, Cristina Hernando-Davalillo, Francesc Palau, Janet Hoenicka
PLXNA2 and LRRC40 as candidate genes in autism spectrum disorder. Autism research : official journal of the International Society for Autism Research 14 (6) (2021)
Anna Marcé-Grau, Laura Martí-Sánchez, Heidy Baide-Mairena, Juan Dario Ortigoza-Escobar, Belen Perez-Duenas
Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies. Journal of inherited metabolic disease 42 (4) (2019)

Juan Dario Ortigoza-Escobar.css-eqlu8i{font-size:small;padding-left:4px;} (Juan D Ortigoza-Escobar, Juan Dario-Ortigoza-Escobar, Juan Darío Ortigoza-Escobar)

Publication Activity (10 Years)

Top Topics

Top Venues

Juan Dario Ortigoza-Escobar (Juan D Ortigoza-Escobar, Juan Dario-Ortigoza-Escobar, Juan Darío Ortigoza-Escobar)