Publications by authors named "Dimitri Krainc"

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Adult-Onset BPAN: An Atypical Presentation Mimicking Early-Onset Parkinson's Disease.
Mariana H G Monje, Padmaja Vittal, Ignacio Juan Keller Sarmiento, Lisa Kinsley, Dimitri Krainc

Mov Disord Clin Pract· December 2025

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Author Correction: Neuroprotective role of Sirt1 in mammalian models of Huntington's disease through activation of multiple Sirt1 targets.
Mali Jiang, Jiawei Wang, Jinrong Fu, Lin Du, Hyunkyung Jeong, Dimitri Krainc

Nat Med· December 2025

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Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.
Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh, Reza Maroofian, Zita Suprenant, Dimitri Krainc

Ann Neurol· November 2025

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The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.
Sarah M Brooker, Maria Novelli, Robert Coukos, Neha Prakash, Walaa A Kamel, Dimitri Krainc

Ann Neurol· September 2025

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A STOP-Gain RNF213 Variant Causes Chorea, Stroke-Like Episodes, and Leigh Syndrome-Like Encephalopathy.
Roberta Bovenzi, Mariasavina Severino, Jennifer Nichols, Fred Shen, Ignacio J Keller Sarmiento, Dimitri Krainc

Mov Disord· September 2025

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Genome-wide association study of copy number variations in Parkinson's disease.
Zied Landoulsi, Ashwin Ashok Kumar Sreelatha, Nicole Kuznetsov, Claudia Schulte, Dheeraj Reddy Bobbili, Dimitri Krainc

medRxiv· July 2025

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Genome-wide epistasis analysis reveals significant epistatic signals associated with Parkinson's disease risk.
Alejandro Cisterna-Garcia, Bernabe I Bustos, Sara Bandres-Ciga, Thiago P Leal, Elif I Sarihan, Dimitri Krainc

Brain· June 2025

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Novel In-Frame FGF14 Deletion Causes Spinocerebellar Ataxia Type 27A: Clinical Response to Deep Brain Stimulation and 4-Aminopyridine.
Ignacio J Keller Sarmiento, Roberta Bovenzi, Morgan Kinsinger, Lisa Kinsley, Bernabe I Bustos, Dimitri Krainc

Mov Disord· June 2025

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Pathogenic variants in Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.
Niccolò E Mencacci, Georgia Minakaki, Reza Maroofian, Raffaella De Pace, Adeline Paimboeuf, Dimitri Krainc

medRxiv· May 2025

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Commander complex regulates lysosomal function and is implicated in Parkinson's disease risk.
Georgia Minakaki, Nathaniel Safren, Bernabe I Bustos, Steven J Lubbe, Niccolò E Mencacci, Dimitri Krainc

Science· April 2025

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N-acetyl-l-leucine lowers pS129-synuclein and improves synaptic function in models of Parkinson's disease.
Pingping Song, Rossella Franchini, Chuyu Chen, Bryan Duong, Yi-Zhi Wang, Dimitri Krainc

Res Sq· April 2025

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Dysregulation of mitochondrial α-ketoglutarate dehydrogenase leads to elevated lipid peroxidation in CHCHD2-linked Parkinson's disease models.
Ge Gao, Yong Shi, Han-Xiang Deng, Dimitri Krainc

Nat Commun· February 2025

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Diverse Functions of Parkin in Midbrain Dopaminergic Neurons.
Pingping Song, Dimitri Krainc

Mov Disord· August 2024

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Association of Body Mass Index and Parkinson Disease: A Bidirectional Mendelian Randomization Study.
Cloé Domenighetti, Pierre-Emmanuel Sugier, Ashwin Ashok Kumar Sreelatha, Claudia Schulte, Sandeep Grover, Dimitri Krainc

Neurology· August 2024

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De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures.
Ignacio J Keller Sarmiento, Bernabe I Bustos, Joanna Blackburn, Nicholas E F Hac, Maura Ruzhnikov, Dimitri Krainc

Mov Disord· July 2024

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Alterations in Blood Methylome as Potential Epigenetic Biomarker in Sporadic Parkinson's Disease.
Paulina Gonzalez-Latapi, Bernabe Bustos, Siyuan Dong, Steven Lubbe, Tanya Simuni, Dimitri Krainc

Ann Neurol· June 2024

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Twelve Years of Drug Prioritization to Help Accelerate Disease Modification Trials in Parkinson's Disease: The International Linked Clinical Trials Initiative.
Richard K Wyse, Tom Isaacs, Roger A Barker, Mark R Cookson, Ted M Dawson, Dimitri Krainc

J Parkinsons Dis· June 2024

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Key genes and convergent pathogenic mechanisms in Parkinson disease.
Robert Coukos, Dimitri Krainc

Nat Rev Neurosci· June 2024

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VPS13C regulates phospho-Rab10-mediated lysosomal function in human dopaminergic neurons.
Leonie F Schrӧder, Wesley Peng, Ge Gao, Yvette C Wong, Michael Schwake, Dimitri Krainc

J Cell Biol· May 2024

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A GNAI1 Pathogenic Variant in a Case with GNAO1-Isolated Dystonia: A Modifier of Disease Severity?
Mariana H G Monje, Joanna Sarah Blackburn, Lisa Kinsley, Dimitri Krainc, Niccolò E Mencacci

Mov Disord· May 2024

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Fostering Academia-Industry Partnerships to Facilitate Therapeutic Discoveries in Neurology: The Role of ANA as a Catalyst.
M Elizabeth Ross, Dimitri Krainc, Ming Guo, M Maral Mouradian, Rajiv R Ratan

Ann Neurol· May 2024

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Cell biology of Parkinson's disease: Mechanisms of synaptic, lysosomal, and mitochondrial dysfunction.
Sarah M Brooker, Grace E Naylor, Dimitri Krainc

Curr Opin Neurobiol· April 2024

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Protocol to investigate Parkinson's patient-derived dopaminergic neurons by live-cell microscopy and oxidized dopamine assays.
Pingping Song, Dimitri Krainc

STAR Protoc· March 2024

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Inhibition of cysteine protease cathepsin L increases the level and activity of lysosomal glucocerebrosidase.
Myung Jong Kim, Soojin Kim, Thomas Reinheckel, Dimitri Krainc

JCI Insight· February 2024

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Shifting the trajectory of therapeutic development for neurological and psychiatric disorders.
Dimitri Krainc, William J Martin, Bradford Casey, Frances E Jensen, Sarah Tishkoff

Sci Transl Med· November 2023

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