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

Expanding Clinical Experience With Istradefylline in ADCY5-Related Movement Disorder: A Case With No Benefit

扩展ADCY5相关运动障碍中使用伊曲茶碱的临床经验：一例无获益的病例

Movement Disorders Clinical Practice

IF2.7

2026-02-250

PRE

Bilateral Globus Pallidus Deep Brain Stimulation Improves Motor Function in ADCY5-Related Disorder

Movement Disorders

IF7.6

2026-01-240

PRE

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

Longitudinal Dynamics of Plasma Neurofilament Light Chain in Hereditary Spastic Paraplegia Type 11 (HSP-SPG11) and Type 15 (HSP-ZFYVE26)

血浆神经丝轻链在遗传性痉挛性截瘫痬11型（HSP-SPG11）和15型（HSP-ZFYVE26）中的纵向动力学

MOVEMENT DISORDERS

IF7.6

2025-12-010

PRE

Spectrum of Movement Disorders in Early-Onset Hereditary Spastic Paraplegia: A Study of 428 Cases

早期发病遗传性痉挛性截瘫痷的运动障碍谱：一项428例病例研究

MOVEMENT DISORDERS

IF7.6

2025-12-010

PRE

Early recognition of status dystonicus in children: a case-based approach for the general pediatrician

儿童扭转痉挛状态早期识别：面向全科儿科医师的病例导向方法

CURRENT OPINION IN PEDIATRICS

IF2.5

2025-12-010

PRE

LXR agonist rescues synaptic dysfunction and degeneration in SPG3A patient-specific iPSC-derived neurons

LXR激动剂挽救了SPG3A患者特异iPSC来源神经元中的突触功能障碍和变性。

Acta Neuropathologica Communications

IF5.7

2025-11-190

OAAI

与健康相关的生活质量在少见的儿童期发病的遗传性痉挛性截瘫中

Annals of Clinical and Translational Neurology

IF3.9

2025-11-060

OAAI

Response to GPi-DBS in a Case of EIF2AK2-Associated Early-Onset Generalized Dystonia

GPi-DBS对EIF2AK2相关早发型全身性肌张力障碍病例的响应

Movement Disorders Clinical Practice

IF2.7

2025-10-110

PRE

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

Darius Ebrahimi-Fakhari

个人简介

教育背景

工作经历

荣誉奖项

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