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Darius Ebrahimi-Fakhari

Boston Children's Hospital

United States

Research Interests

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Professors in United States

Articles (20)

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Collaborators (7)

Joke Dijk

Amsterdam University Medical Centers, location AMC

NETHERLANDS

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Hyder Jinnah

Emory University

UNITED STATES

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Alberto Albanese

Professor of Neurology

IRCCS Humanitas Research Hospital

ITALY

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Jenny Wilson

Assistant Professor

Oregon Health & Science University

UNITED STATES

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Craig Blackstone

Chief, Movement Disorders Division

Massachusetts General Hospital

UNITED STATES

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MUSTAFA SAHIN

Professor

Boston Children's Hospital

UNITED STATES

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Kishore R. Kumar

University of Sydney

AUSTRALIA

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Darius Ebrahimi-Fakhari

Research Interests

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Articles (20)

‘What's in a Name?’ Naming Genetically Determined Movement Disorders: Gap and Controversy

A de novo VPS16 missense variant blocks autophagic flux and extends DYT- VPS16 into infancy

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Phenotypic Spectrum and Clinical Approach to Early‐Onset Hereditary Spastic Paraplegia

De novo VPS16 missense variant causes infantile-onset dystonia with defective autophagic flux

Expanding the Motor Phenotype and Molecular Spectrum of NAA15‐Related Disorder: Two Cases of Isolated Childhood‐Onset Gait Dystonia

Childhood‐Onset Movement Disorders at the Forefront: From Genes to Precision Therapy

Epilepsy‐Dyskinesia Syndromes: The Venn Diagram of Genetic Epilepsy and Movement Disorders

Combination Intrathecal Pharmacotherapy for Refractory Status Dystonicus in Dyskinetic Cerebral Palsy

CRISPR/Cas9 loss-of-function screen in a neuronal model of AP-4 deficiency identifies ATG9A trafficking modulators

Reply to: Mathematical Comments on Linking Neurofilament Light Chain Levels to Disease Severity in Hereditary Spastic Paraplegia Subtypes SPG11 and SPG15

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

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

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

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

Childhood-Onset Cerebellar Ataxia from Homozygous XRCC1 c.1293G>C Variant

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

Diagnostic yield of genome sequencing in children with progressive movement disorders

Genotype-structure-phenotype correlations define divergent natural history in early-onset spastic paraplegia type 4

Collaborators (7)

Joke Dijk

Hyder Jinnah

Alberto Albanese

Jenny Wilson

Craig Blackstone

MUSTAFA SAHIN

Kishore R. Kumar

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