Juan Darío Ortigoza‐Escobar

hospital sant joan de déu barcelona

H指数:23

被引数:1,666

浏览量:0

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Kinesin Light Chain 1–Related Spastic-Dystonic Tetraparesis into Adulthood

肌球蛋白轻链1相关痉挛性肌营养不良性四肢轻瘫延续至成年

Movement Disorders

IF7.6

2026-08-310

PRE

Longitudinal Phenotypic Trajectories in GNAO1-Related Disorders: Defining Disease Progression and Clinical Profiles

GNAO1相关疾病中的纵向表型轨迹：定义疾病进展和临床特征

Annals of Neurology

IF7.7

2026-04-170

OAAI

Jana Domínguez-Carral MD; Ana María Domínguez Cobo MD; Sol Balsells MSc; Anna Aguilar-Ros BS; Chu-Ting Chang MSc; William G. Ludlam PhD; Kathryn Yang MD; Katerina Bernardi MD; Micaela Chinigioli MD; Ainara Salazar-Villacorta MD; Veronica Di Pisa MD; Nuria Lamagrande-Casanova MD; Elena González-Alguacil MD; Beatriz De la Casa-Fages MD, PhD; Akihisa Okumura MD; Josefina Rodríguez MD; Ayush Agarwal MD; Daniela Muñoz-Chesta MD; Carolina Reynoso-Osnayo MD; Amy Lin MD; Brahim Tabarki MD; Jobaida Parvin MD; Adolfo Alberto Gallo MD; Andreia Forno MD; Fabian Maass MD; Johnny Montiel Blanco MD; Salomé Nasif MD; Elizabeth Jennions MD; Jorge Luis Ramón-Gómez MD; Helene Verhelst MD, PhD; Juan José Nieto Barceló MD; Dunja Čokolić Petrović MD; Luz Victoria García Ruiz MD; Christoph van Riesen MD; Paulo Rego Sousa MD; Maria del Pilar Massaro Sanchez MD; Husnea Ara Khan MD; Wejdan Hakami MD; Jennifer Friedman MD; Iván Espinoza-Quinteros MD; Monica Troncoso MD; Divyani Garg MD; Micaela Pauni MD; Hirokazu Kurahashi MD; María Concepción Miranda-Herrero MD, PhD; Anna Duat-Rodriguez MD; Luca Soliani MD; Manju A. Kurian MD, PhD; Angeles Schteinschnaider MD; Siddharth Srivastava MD; Darius Ebrahimi-Fakhari MD, PhD; Kirill A. Martemyanov PhD; Juan Darío Ortigoza-Escobar MD, PhD

Outcome measurement in GNAO1-related disorder: Balancing global severity and domain-specific change

GNAO1相关障碍的结局测量：平衡总体严重程度和领域特异性变化

developmental medicine & child neurology

IF0

2026-04-090

OAAI

International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives

NKX2-1相关疾病国际登记系统：临床、遗传和影像学视角

Movement Disorders

IF7.6

2026-01-190

OAAI

Laia Nou-Fontanet MD; Claudia Ravelli MD; Lydie Burglen MD, PhD; Sol Balsells Mejia MSc; Angel Valls-Villalba MD; Elies Roman Schiffels MSc; Alice Innocenti MD; Beatriz Villafuerte MD, PhD; Ainara Salazar-Villacorta MD; Vicente Quiroz MD; Andrea Sariego Jamardo MD; Giulia Bonato MD; Asun Díaz-Gomez MD; Alexandra Afenjar MD; Catheline Vilain MD; Patricia Dumke da Silva Möller MD; Deyanira Garcia-Navas Nuñez MD; Magdalena Krygier MD; Maria Judit Molnar MD; Łukasz Milanowski MD; Katrin Õunap MD, PhD; Micaela Pauni MD; Patricia Vega MD; Raphael Borie MD; Milena Villamil-Osorio MD; Sanem Yilmaz MD; Dénes Zádori MD; Marta Zawadzka MD; Tahsin Stefan Barakat MD; Sebastian Neuens MD; Daniel de Natera-de Benito MD, PhD; Dídac Casas-Alba MD, PhD; Luca Soliani MD; Claudio M. de Gusmao MD, PhD; Giacomo Garone MD; Nicola Specchio MD, PhD; Miryam Carecchio MD, PhD; José C. Moreno MD, PhD; Francesca Magrinelli MD, PhD; Kailash P. Bhatia MD; Darius Ebrahimi-Fakhari MD, PhD; Claudia Castiglioni MD; Manju Ann Kurian MBBChir, MRCPCH, PhD; João Nuno Carvalho MD; Roser Pons MD; Emmanuel Roze MD, PhD; Diane Doummar MD; Juan Darío Ortigoza-Escobar MD, PhD

Beyond chorea: a qualitative study of lived experiences in NKX2-1-related disorders

超越舞蹈症：NKX2-1相关障碍的定性研究：生活经历

Humanities and Social Sciences Communications

IF3.6

2025-12-060

OAAI

Building on European Reference Network for Rare Neurological Diseases (ERN-RND) Experience: Integrating Motor and Non-Motor Assessment in Pediatric Movement Disorders

MOVEMENT DISORDERS

IF7.6

2025-12-010

OAAI

Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients

JOURNAL OF INHERITED METABOLIC DISEASE

IF3.8

2025-11-150

Severe upper airway dysfunction in GNAO1-related disorders

GNAO1相关疾病中的严重上气道功能障碍

Italian Journal of Pediatrics

IF3.1

2025-10-300

OAAI

A Further Case Supporting CCNK as a Neurodevelopmental Disease Gene

进一步支持CCNK作为神经发育疾病基因的病例研究

Clinical Genetics

IF2.3

2025-10-160

PRE

Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases

SLC31A1相关的发育性癫痫性脑病的临床与分子特征：13例新病例的启示

Brain Communications

IF4.5

2025-09-010

Natalia Juliá-Palacios; Gerard Muñoz-Pujol; Reza Maroofian; Aida M Bertoli-Avella; Marta Gómez-Chiari; Jordi Muchart-López; Abraham J Paredes-Fuentes; Mar O’Callaghan; Irene S Machado-Casas; Ingrid Cristian; Jennifer Morrison; Angels Garcia-Cazorla; Anna Codina; Mohammad Miryounesi; Emir Zonic; Peter Bauer; Huma Cheema; Muhammad Nadeem Anjum; Nouriya Al-Sannaa; Marwa Abd Elmaksoud; Faroug Ababneh; Sahar Alijanpour; Seyed Hassan Tonekaboni; Afshin Fayazi; Maria Urbaniak; Uxía Barba; Janet Hoenicka; Francesc Palau; Henry Houlden; Juan Darío Ortigoza-Escobar; Antonia Ribes; Carlos Santos-Ocaña; Millie Tyler; Patrick Gaffney; Christopher J Carroll; Frederic Tort; Klaas J Wierenga; Bryn D Webb; Rafael Artuch; Heidy Baide-Mairena; Roser Urreizti

Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients

Brain

IF11.7

2025-08-140

PRE

Vicente Quiroz; Julian E Alecu; Umar Zubair; Katerina Bernardi; Zainab Zaman; Joshua Rong; Amy Tam; Avaneesh Kunta; Habibah A P Agianda; Nicole Battaglia; Henri J D Schmidt; Dario Resch; Noah Wyman; Lindsey M Vogt; Wafa Bani Uraba; Leonie F Becker; Kavitha Kothur; Deepak Gill; Bernardita Suarez; Javiera I Jofre; Carolina Arias; Claudia Castiglioni; Patricia Dumke da Silva Möller; Andre Felipe Pinto Duarte; Alexander Eggers-Lisboa; Loreto Ríos-Pohl; Magdalena Gonzalez-Ubilla; Chinmay Chaudhari; Ainara Salazar-Villacorta; Xiaojuan Tian; Lifang Dai; Changhong Ding; Mina Zamani; Pardis Nourbakhsh; Gholamreza Shariati; Tamara Pringsheim; Wei Kang Lim; Emanuele Bartolini; Maria Stamelou; Poonam Bhatia; Michael C Kruer; Soaham Desai; Mary Iype; Ján Necpál; David Crosiers; Hannah F Jones; Javier Ricardo Perez-Sanchez; Esra Demir Unal; Nuria Lopez-Ariztegui; Sruthi Kola; Wei-Sheng Lin; Alia Hassan Mansour; Chahnez Charfi Triki; Emilio Fernandez-Alvarez; Emmanuel Roze; Jitendra Kumar Sahu; Asif Doja; Nardo Nardocci; Davide Caputo; Anne Koy; Sanjay Bhate; Marios Kaliakatsos; Robert Robinson; Jane Hassell; Roser Pons; Alexander Munchau; Luca Soliani; Alonso Zea-Vera; Laura Tochen; Hugo Morales-Briceño; Russell C Dale; Alissa D’Gama; Tobias Loddenkemper; Phillip L Pearl; Shekeeb S Mohammad; Manju A Kurian; Carolina Gorodetsky; Juan Darío Ortigoza-Escobar; Luca Schierbaum; Kathryn Yang; Darius Ebrahimi-Fakhari

Case report of Pediatric DYT-HPCA: analysis of Ca2+ and K+ channel dynamics and experience with pallidal DBS

儿科DYT-HPCA病例报告：Ca2+和K+通道动力学分析及苍白球DBS治疗经验

Pediatric Neurology

IF2.1

2025-08-070

PRE

Recessive Loss of PI4K2A Function Causes a Developmental and Epileptic Dyskinetic Encephalopathy with Prominent Orolingual Dyskinesia

隐性PI4K2A功能丧失导致一种伴有显著口舌运动障碍的发育性、癫痫性及运动障碍性脑病

Movement Disorders

IF7.6

2025-08-070

OAAI