Publications by authors named "Berge A Minassian"

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Neurofilament Light Chain as a Biomarker of Disease Progression in Lafora Disease.
Lorenzo Muccioli, Bazile Ganceviciute, Felicitas Becker, Raffaella Minardi, Maria Tappatà, Berge A Minassian

Neurol Genet· December 2025

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CUL1 variants cause severe neurodevelopmental disorders: Insights from human genetics and a zebrafish model of microcephaly.
Haoling Xu, Zhen Liu, Fadi F Hamdan, Shengnan Wu, Mei He, Berge A Minassian

HGG Adv· November 2025

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The 9th annual Lafora science symposium: a rare epilepsy community makes progress towards clinical readiness.
Meredith I Williams, Katherine J Donohue, Pascual Sanz, Souad Messahel, Jose M Serratosa, Berge A Minassian

Epilepsy Behav· October 2025

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Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies.
Brent L Fogel, Thomas Klopstock, David R Lynch, Francesca Maltecca, Mayank Verma, Berge A Minassian

Ann Neurol· September 2025

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Targeting the trunk of multi-root common epilepsy with gene therapy.
Mehrnaz Sheibani, Berge A Minassian

Mol Ther Methods Clin Dev· June 2025

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Focused ultrasound widely broadens AAV-delivered Cas9 distribution and activity.
Emrah Gumusgoz, Sahba Kasiri, Ibrahim Youssef, Mayank Verma, Rajiv Chopra, Berge A Minassian

Gene Ther· May 2025

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Lithium exacerbates Lafora body formation in the Epm2a Lafora disease mouse model.
Jun Wu, Tori C Lynn, Silvia Nitschke, Sharmistha Mitra, Berge A Minassian

Neurosci Lett· May 2025

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SURF1 Deficiency: Expanding on Disease Phenotype and Assessing Disease Burden by Describing Clinical and Biochemical Phenotype.
Saima Kayani, Victor Daescu, Hamza Dahshi, Souad Messahel, Kasey Woleban, Berge A Minassian

Am J Med Genet A· April 2025

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Glycogen synthase GYS1 overactivation contributes to glycogen insolubility and malto-oligoglucan-associated neurodegenerative disease.
Silvia Nitschke, Alina P Montalbano, Megan E Whiting, Brandon H Smith, Neije Mukherjee-Roy, Berge A Minassian

EMBO J· March 2025

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Neuronal ceroid lipofuscinoses type 7 (CLN7): a case series reporting cross sectional and retrospective clinical data to evaluate validity of standardized tools to assess disease progression, quality of life, and adaptive skills.
Saima Kayani, Veronica BordesEdgar, Andrea Lowden, Emily R Nettesheim, Hamza Dahshi, Berge A Minassian

Orphanet J Rare Dis· December 2024

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Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.
Emily Banks, Vincent Francis, Sheng-Jia Lin, Fares Kharfallah, Vladimir Fonov, Arakel Minassian, Berge A Minassian

Nat Commun· August 2024

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AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient.
James J Dowling, Terry Pirovolakis, Keshini Devakandan, Ana Stosic, Mia Pidsadny, Berge A Minassian

Nat Med· July 2024

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Clinicopathologic Dissociation: Robust Lafora Body Accumulation in Malin KO Mice Without Observable Changes in Home-Cage Behavior.
Vaishnav Krishnan, Jun Wu, Arindam Ghosh Mazumder, Jessica L Kamen, Catharina Schirmer, Berge A Minassian

J Comp Neurol· July 2024

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Neuronal Ceroid Lipofuscinoses Type 7 (CLN7)- A Case Series Reporting Cross Sectional and Retrospective Clinical Data to Evaluate Validity of Standardized Tools to Assess Disease Progression, Quality of Life, and Adaptive Skills.
Saima Kayani, Veronica Bordes Edgar, Andrea Lowden, Emily R Nettesheim, Hamza Dahshi, Berge A Minassian

Res Sq· June 2024

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CSTB gene replacement improves neuroinflammation, neurodegeneration and ataxia in murine type 1 progressive myoclonus epilepsy.
Emrah Gumusgoz, Sahba Kasiri, Mayank Verma, Jun Wu, Daniel Villarreal Acha, Berge A Minassian

Gene Ther· May 2024

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Amylopectinosis of the fatal epilepsy Lafora disease resists autophagic glycogen catabolism.
Jun Wu, Or Kakhlon, Miguel Weil, Alexander Lossos, Berge A Minassian

EMBO Mol Med· May 2024

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GDE5/Gpcpd1 activity determines phosphatidylcholine composition in skeletal muscle and regulates contractile force in mice.
Rahmawati Aisyah, Noriyasu Ohshima, Daiki Watanabe, Yoshiko Nakagawa, Tetsushi Sakuma, Berge A Minassian

Commun Biol· May 2024

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KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature.
Sangeetha Yoganathan, Robyn Whitney, Maya Thomas, Sumita Danda, Akbar Mohamed Chettali, Berge A Minassian

Epilepsia· March 2024

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H and P magnetic resonance spectroscopy reveals potential pathogenic and biomarker metabolite alterations in Lafora disease.
Kimberly L Chan, Aparna Panatpur, Souad Messahel, Hamza Dahshi, Talon Johnson, Berge A Minassian

Brain Commun· March 2024

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Myofiber-type-dependent 'boulder' or 'multitudinous pebble' formations across distinct amylopectinoses.
Sharmistha Mitra, Baozhi Chen, John M Shelton, Silvia Nitschke, Jun Wu, Berge A Minassian

Acta Neuropathol· February 2024

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Loss of symmetric cell division of apical neural progenitors drives -related developmental and epileptic encephalopathy.
Emily Banks, Vincent Francis, Sheng-Jia Lin, Fares Kharfallah, Vladimir Fonov, Arakel Minassian, Berge A Minassian

medRxiv· January 2024

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Gys1 Antisense Therapy Prevents Disease-Driving Aggregates and Epileptiform Discharges in a Lafora Disease Mouse Model.
Katherine J Donohue, Bethany Fitzsimmons, Ronald C Bruntz, Kia H Markussen, Lyndsay E A Young, Berge A Minassian

Neurotherapeutics· October 2023

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Clinicopathologic Dissociation: Robust Lafora Body Accumulation in Malin KO Mice Without Observable Changes in Home-cage Behavior.
Vaishnav Krishnan, Jun Wu, Arindam Ghosh Mazumder, Jessica L Kamen, Catharina Schirmer, Berge A Minassian

bioRxiv· September 2023

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