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

The Movement Disorder Spectrum of ATP1A3-Related Disorders: Cross-Sectional Analysis and Video Archive of 88 Patients

ATP1A3相关疾病的运动障碍谱：横断面分析及88例患者的视频档案

Movement Disorders

IF7.6

2026-03-180

PRE

Katerina Bernardi MD; Anna Zhou MD; Kathryn Yang MBChB, FRCPC; Joshua Rong BSc; Vicente Quiroz MD; Julian E. Alecu MD, PhD; Habibah A. P. Agianda MD; Henri J. D. Schmidt; Amy Tam BSc; Siofra Carty BSc; Natalia Espasandin-Hueter MD; Alfons Macaya MD, PhD; Maria Stamelou MD; Tamara Pringsheim MD; Margaret Means MD; Arpita Lakhotia MBBS; Joanna Blackburn MD; Alonso Zea Vera MD; Leonie Felicia Becker MD; Norbert Brüggemann MD; Alexander Münchau MD; Yury Seliverstov MD, PhD; Lindsey Vogt MD, MSc; Carolina Gorodetsky MD, MSc; Jesse M. Levine MD, PhD; Alyssa D. Runco MD; Daniel G. Calame MD, PhD; Lifang Dai MD; Changhong Ding MD; Darius Ebrahimi-Fakhari 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

Diagnostic Utility of the ATG9A Ratio in AP-4-Associated Hereditary Spastic Paraplegia

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

IF3.9

2026-01-010

OAAI

DBSMatchMaker: Global Uptake and Insights from the First Year of a Collaborative Deep Brain Stimulation Platform

MOVEMENT DISORDERS

IF7.6

2026-01-010

PRE

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

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

Effects of Pallidal Deep Brain Stimulation on Speech and Swallowing in Pediatric Patients with Dystonia

丘脑底核深部脑刺激对肌张力障碍儿科患者言语和吞咽功能的影响

MOVEMENT DISORDERS CLINICAL PRACTICE

IF2.7

2025-11-010

OAAI

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

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

Variable expressivity of KMT2B variants at codon 2565 in patients with dystonia and developmental disorders

PARKINSONISM & RELATED DISORDERS

IF3.4

2025-04-010

OAAI

Positive Effects of Caffeine Therapy in a Girl with PDE2A-Related Paroxysmal Dyskinesia

PDE2A相关阵发性运动障碍患者中咖啡因疗法的积极作用

MOVEMENT DISORDERS CLINICAL PRACTICE

IF2.7

2025-03-030

OAAI

Variable expressivity of KMT2B variants at codon 2565 in patients with dystonia and developmental disorders (vol 133, 107319, 2025)