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B. Minassian · SciRah

Researcher profile · Semantic Scholar

B. Minassian

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B. Minassian — researcher profile on SciRah

h-index: 57
Works: 300
Citations: 13K

Most-cited papers

What Is Epilepsy?
B. Minassian, Evan Lewis, Robyn Whitney
2020A Practical Guide to Supporting People with Epilepsy378 citations
Semantic Scholar
Lafora disease — from pathogenesis to treatment strategies
F. Nitschke, S. Ahonen, S. Nitschke, Sharmistha Mitra +1 more
2018Nature Reviews Neurology142 citations Open access
Semantic Scholar
From Genetic Testing to Precision Medicine in Epilepsy
P. Striano, B. Minassian
2020Neurotherapeutics129 citations Open access
Semantic Scholar
Both gain‐of‐function and loss‐of‐function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox‐Gastaut syndrome
Xiao Jiang, P. K. Raju, Nazzareno D’Avanzo, Mathieu Lachance +8 more
2019Epilepsia83 citations
Semantic Scholar
SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease
P. Gut, Sanna Matilainen, J. Meyer, Pieti Pällijeff +22 more
2020Nature Communications78 citations Open access
Semantic Scholar
Lafora disease offers a unique window into neuronal glycogen metabolism
Matthew S. Gentry, J. Guinovart, B. Minassian, P. Roach +1 more
2018Journal of Biological Chemistry77 citations Open access
Semantic Scholar
The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy
A. Orsini, A. Valetto, V. Bertini, M. Esposito +6 more
2019Seizure70 citations Open access
Semantic Scholar
Sexually Divergent Mortality and Partial Phenotypic Rescue After Gene Therapy in a Mouse Model of Dravet Syndrome
Yosuke Niibori, Shiron J. Lee, B. Minassian, D. Hampson
2019Human Gene Therapy63 citations Open access
Semantic Scholar
Gys1 antisense therapy rescues neuropathological bases of murine Lafora disease
S. Ahonen, S. Nitschke, Tamar R. Grossman, Holly B. Kordasiewicz +6 more
2021bioRxiv47 citations Open access
Semantic Scholar
Mutations in the V-ATPase assembly factor VMA21 cause a congenital disorder of glycosylation with autophagic liver disease
Magda Cannata Serio, L. Graham, A. Ashikov, L. E. Larsen +24 more
2020Hepatology46 citations Open access
Semantic Scholar
Skeletal Muscle Glycogen Chain Length Correlates with Insolubility in Mouse Models of Polyglucosan-Associated Neurodegenerative Diseases
Mitchell A. Sullivan, S. Nitschke, Evan P Skwara, Pei-Xiang Wang +9 more
2019Cell Reports43 citations Open access
Semantic Scholar
The role of common genetic variation in presumed monogenic epilepsies
C. Campbell, C. Leu, Y. Feng, S. Wolking +20 more
2022EBioMedicine42 citations Open access
Semantic Scholar
AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient
James J. Dowling, Terry Pirovolakis, Keshini Devakandan, A. Stošić +12 more
2024Nature Medicine38 citations Open access
Semantic Scholar
A Review of Targeted Therapies for Monogenic Epilepsy Syndromes
Vincent Zimmern, B. Minassian, C. Korff
2022Frontiers in Neurology38 citations Open access
Semantic Scholar
Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease
A. Ruggieri, S. Naumenko, Martin A. Smith, E. Iannibelli +13 more
2020Acta Neuropathologica37 citations Open access
Semantic Scholar
Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism
O. Kakhlon, Hilla Vaknin, Kumudesh Mishra, Jeevitha D'Souza +18 more
2021EMBO Molecular Medicine32 citations Open access
Semantic Scholar
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A
C. Steward, Jolien Roovers, M. Suner, J. Gonzalez +32 more
2019npj Genomic Medicine32 citations Open access
Semantic Scholar
AAV-Mediated Artificial miRNA Reduces Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models
Emrah Gumusgoz, S. Kasiri, Dikran R. Guisso, Jun Wu +3 more
2022Neurotherapeutics31 citations Open access
Semantic Scholar
Lafora Disease: current biology and therapeutic approaches
Sharmistha Mitra, Emrah Gumusgoz, B. Minassian
2021Revue neurologique (Paris)29 citations Open access
Semantic Scholar
An inducible glycogen synthase-1 knockout halts but does not reverse Lafora disease progression in mice
S. Nitschke, E. Chown, Xiao-Chu Zhao, S. Gabrielian +7 more
2020Journal of Biological Chemistry26 citations Open access
Semantic Scholar
Polygenic risk scores of several subtypes of epilepsies in a founder population
Claudia Moreau, R. Rébillard, S. Wolking, J. Michaud +7 more
2019Neurology: Genetics26 citations Open access
Semantic Scholar
Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances
Vincent Zimmern, B. Minassian
2024Genes23 citations Open access
Semantic Scholar
Lafora Disease: A Review of Molecular Mechanisms and Pathology
Brandy Verhalen, Susan T. Arnold, B. Minassian
2018Neuropediatrics22 citations Open access
Semantic Scholar
GDE5/Gpcpd1 activity determines phosphatidylcholine composition in skeletal muscle and regulates contractile force in mice
Rahmawati Aisyah, Noriyasu Ohshima, Daiki Watanabe, Yoshiko Nakagawa +18 more
2024Communications Biology21 citations Open access
Semantic Scholar
Gys1 Antisense Therapy Prevents Disease-Driving Aggregates and Epileptiform Discharges in a Lafora Disease Mouse Model
Katherine J. Donohue, Bethany Fitzsimmons, Ronald C. Bruntz, K. Markussen +12 more
2023Neurotherapeutics21 citations Open access
Semantic Scholar
Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency.
S. Nitschke, Mitchell A. Sullivan, Sharmistha Mitra, Charlotte R. Marchioni +17 more
2022Brain : a journal of neurology21 citations Open access
Semantic Scholar
The 5th International Lafora Epilepsy Workshop: Basic science elucidating therapeutic options and preparing for therapies in the clinic
Matthew S. Gentry, Z. Afawi, D. Armstrong, A. Delgado-Escueta +10 more
2020Epilepsy & Behavior21 citations Open access
Semantic Scholar
GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease
Erin E. Chown, Pei-Xiang Wang, Xiao-Chu Zhao, Justin J. Crowder +11 more
2020Annals of Clinical and Translational Neurology21 citations Open access
Semantic Scholar
Defining the phenotype of FHF1 developmental and epileptic encephalopathy
M. Trivisano, A. Ferretti, E. Bebin, L. Huh +29 more
2020Epilepsia21 citations Open access
Semantic Scholar
Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy
Sharmistha Mitra, Bao-Zhi Chen, Pei-Xiang Wang, E. Chown +6 more
2022Disease Models & Mechanisms20 citations Open access
Semantic Scholar
SLC13A5 Deficiency Disorder: From Genetics to Gene Therapy
Kimberly Goodspeed, Judy S. Liu, Kim Nye, S. Prasad +5 more
2022Genes19 citations Open access
Semantic Scholar
Emerging treatments for progressive myoclonus epilepsies
A. Riva, A. Guglielmo, G. Balagura, Francesca Marchese +5 more
2020Expert Review of Neurotherapeutics17 citations Open access
Semantic Scholar
Nationwide genetic testing towards eliminating Lafora disease from Miniature Wirehaired Dachshunds in the United Kingdom
S. Ahonen, I. Seath, C. Rusbridge, S. Holt +4 more
2018Canine Genetics and Epidemiology17 citations Open access
Semantic Scholar
Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations
A. Riva, A. Orsini, M. Scala, Vittoria Taramasso +28 more
2021Journal of Neurological Sciences15 citations Open access
Semantic Scholar
Canine Lafora Disease: An Unstable Repeat Expansion Disorder
Thilo von Klopmann, S. Ahonen, Irene Espadas-Santiuste, K. Matiasek +8 more
2021Life15 citations Open access
Semantic Scholar
Epilepsy phenotype in individuals with chromosomal duplication encompassing FGF12
M. Willemsen, H. Goel, J. Verhoeven, Hilde M. H. Braakman +3 more
2020Epilepsia Open15 citations Open access
Semantic Scholar
Ppp1r3d deficiency preferentially inhibits neuronal and cardiac Lafora body formation in a mouse model of the fatal epilepsy Lafora disease
Lori Israelian, S. Nitschke, Pei-Xiang Wang, Xiao-Chu Zhao +5 more
2020Journal of Neurochemistry15 citations Open access
Semantic Scholar
EEG of asymptomatic first-degree relatives of patients with juvenile myoclonic, childhood absence and rolandic epilepsy: a systematic review and meta-analysis.
Mariam Tashkandi, Duaa Baarma, A. Tricco, Cyrus Boelman +2 more
2019Epileptic disorders15 citations
Semantic Scholar
PI4K2A deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome
Reem A. Alkhater, S. Scherer, B. Minassian, S. Walker
2018Annals of Clinical and Translational Neurology15 citations Open access
Semantic Scholar
KCTD7‐related progressive myoclonic epilepsy: Report of 42 cases and review of literature
S. Yoganathan, Robyn Whitney, Maya Thomas, S. Danda +29 more
2024Epilepsia12 citations Open access
Semantic Scholar
Dominant LMAN2L mutation causes intellectual disability with remitting epilepsy
Reem A. Alkhater, Pei-Xiang Wang, A. Ruggieri, Lori Israelian +4 more
2019Annals of Clinical and Translational Neurology12 citations Open access
Semantic Scholar
Exploiting the diphtheria toxin internalization receptor enhances delivery of proteins to lysosomes for enzyme replacement therapy
Seiji N. Sugiman-Marangos, Greg L. Beilhartz, Xiao-Chu Zhao, Dongxia Zhou +5 more
2020Science Advances11 citations Open access
Semantic Scholar
Focused ultrasound widely broadens AAV-delivered Cas9 distribution and activity
Emrah Gumusgoz, S. Kasiri, Ibrahim Youssef, Mayank Verma +10 more
2025Gene Therapy9 citations
Semantic Scholar
Gene Therapy: Novel Approaches to Targeting Monogenic Epilepsies
Kimberly Goodspeed, Rachel M. Bailey, S. Prasad, C. Sadhu +4 more
2022Frontiers in Neurology9 citations Open access
Semantic Scholar
Ketogenic diet reduces Lafora bodies in murine Lafora disease
Lori Israelian, Pei-Xiang Wang, S. Gabrielian, Xiao-Chu Zhao +1 more
2020Neurology: Genetics9 citations Open access
Semantic Scholar
SURF1 Deficiency: Expanding on Disease Phenotype and Assessing Disease Burden by Describing Clinical and Biochemical Phenotype
Saima Kayani, Victor Daescu, Hamza Dahshi, Souad Messahel +4 more
2024American Journal of Medical Genetics. Part A8 citations Open access
Semantic Scholar
1H and 31P magnetic resonance spectroscopy reveals potential pathogenic and biomarker metabolite alterations in Lafora disease
Kimberly L. Chan, A. Panatpur, Souad Messahel, Hamza Dahshi +4 more
2024Brain Communications8 citations Open access
Semantic Scholar
Genotypes and phenotypes of patients with Lafora disease living in Germany
David A. Brenner, Tobias Baumgartner, S. von Spiczak, J. Lewerenz +11 more
2019Neurological Research and Practice8 citations Open access
Semantic Scholar
Diabetes Mellitus in a Patient With Lafora Disease: Possible Links With Pancreatic β-Cell Dysfunction and Insulin Resistance
R. Nicolescu, S. Al-Khawaga, B. Minassian, K. Hussain
2019Frontiers in Pediatrics8 citations Open access
Semantic Scholar
Ocular phenotype and electroretinogram abnormalities in Lafora disease
Ajoy Vincent, A. Macrì, Anupreet Tumber, Nikolas Koukas +3 more
2018Neurology8 citations Open access
Semantic Scholar

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F. Nitschke×7
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Ami M. Perri×5

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Reem A. Alkhater×4

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Emrah Gumusgoz×4

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Emrah Gumusgoz — researcher profile on SciRah

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Lori Israelian — researcher profile on SciRah