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Molecular Biology

D-Index
61
Citations
22069
World Ranking
1880
National Ranking
935

Overview

Berge A. Minassian is affiliated with The University of Texas Southwestern Medical Center in the United States. Their research spans primarily across the fields of Medicine and Biochemistry, Genetics and Molecular Biology. The scientist's work includes significant contributions to Genetics, Rheumatology, Molecular Biology, Physiology, and Neurology.

Their research topics focus on areas such as Glycogen Storage Diseases and Myoclonus, Genetics and Neurodevelopmental Disorders, Lysosomal Storage Disorders Research, Neurological disorders and treatments, Protein Tyrosine Phosphatases, Genomics and Rare Diseases, as well as Autoimmune Neurological Disorders and Treatments.

Notable recent papers authored or co-authored by Minassian include:

  • From Genetic Testing to Precision Medicine in Epilepsy, 2020, Neurotherapeutics
  • SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease, 2020, Nature Communications
  • Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease, 2020, Hepatology
  • Gys1 antisense therapy rescues neuropathological bases of murine Lafora disease, 2021, Brain
  • Targeting Gys1 with AAV-SaCas9 Decreases Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models, 2021, Neurotherapeutics

Frequent co-authors include Xiaochu Zhao, Jun Wu, Silvia Nitschke, Dikran R. Guisso, and Felix Nitschké, reflecting collaborative research efforts in their scientific domain.

Minassian's publications are commonly found in key venues such as bioRxiv (Cold Spring Harbor Laboratory), Neurotherapeutics, Genes, Annals of Clinical and Translational Neurology, and Nature Communications, indicating active engagement with both preprint and peer-reviewed scientific communities.

Best Publications

  • Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

    Daniel J. Klionsky;Kotb Abdelmohsen;Akihisa Abe;Joynal Abedin

  • Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

    Daniel J. Klionsky;Kotb Abdelmohsen;Akihisa Abe;Joynal Abedin

  • Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.

    Berge A. Minassian;R. Lee Jeffrey;Jo Anne Herbrick;Jack Huizenga

  • High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

    Fadi F. Hamdan;Candace T. Myers;Patrick Cossette;Philippe Lemay

  • A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome.

    Gevork N Mnatzakanian;Hannes Lohi;Iulia Munteanu;Simon E Alfred

  • Mutations in NHLRC1 cause progressive myoclonus epilepsy

    Elayne M Chan;Edwin J Young;Leonarda Ianzano;Iulia Munteanu

  • Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

    Daniel J. Klionsky;Kotb Abdelmohsen;Akihisa Abe;Joynal Abedin

  • Human Chromosome 7: DNA Sequence and Biology

    Stephen W. Scherer;Joseph Cheung;Jeffrey R. MacDonald;Lucy R. Osborne

  • Diagnostic yield of genetic testing in epileptic encephalopathy in childhood

    Saadet Mercimek-Mahmutoglu;Jaina Patel;Dawn Cordeiro;Stacy Hewson

  • The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter

    Eija Siintola;Meral Topcu;Nina Aula;Hannes Lohi

  • Expanded repeat in canine epilepsy.

    Hannes Lohi;Edwin J. Young;Susan N. Fitzmaurice;Clare Rusbridge

  • Brain dopamine-serotonin vesicular transport disease and its treatment.

    Jennifer J. Rilstone;Reem A. Alkhater;Berge A. Minassian

  • Abnormal metabolism of glycogen phosphate as a cause for Lafora disease.

    Vincent S. Tagliabracci;Jean Marie Girard;Dyann Segvich;Catalina Meyer

  • Mutation I810N in the α3 isoform of Na+,K+-ATPase causes impairments in the sodium pump and hyperexcitability in the CNS

    Steven J. Clapcote;Steven Duffy;Gang Xie;Greer Kirshenbaum

  • Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy

    Hannes Lohi;Leonarda Ianzano;Xiao Chu Zhao;Elayne M. Chan

  • VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy

    Nivetha Ramachandran;Iulia Munteanu;Iulia Munteanu;Peixiang Wang;Alessandra Ruggieri

  • PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease.

    Julie Turnbull;Anna A. DePaoli-Roach;Xiaochu Zhao;Miguel A. Cortez

  • Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy.

    B. A. Minassian;L. Ianzano;M. Meloche;E. Andermann

  • Neuronal ceroid lipofuscinoses

    Dragos A. Nita;Sara E. Mole;Berge A. Minassian

  • Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.

    Maria Kousi;Eija Siintola;Lenka Dvorakova;Hana Vlaskova

Frequent Co-Authors

Stephen W. Scherer
Stephen W. Scherer University of Toronto
Cameron Ackerley
Cameron Ackerley University of Toronto
Danielle M. Andrade
Danielle M. Andrade Toronto Western Hospital
Hannes Lohi
Hannes Lohi University of Helsinki
Hannu Kalimo
Hannu Kalimo University of Helsinki
Antonio V. Delgado-Escueta
Antonio V. Delgado-Escueta University of California, Los Angeles
Pasquale Striano
Pasquale Striano University of Genoa
John B. Vincent
John B. Vincent Centre for Addiction and Mental Health
Peter J. Roach
Peter J. Roach Indiana University
Ichizo Nishino
Ichizo Nishino Tokyo Medical University

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