• 7410 Citations
  • 38 h-Index
19972019
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Fingerprint Dive into the research topics where Berge Arakel Minassian is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

Lafora Disease Medicine & Life Sciences
Progressive Myoclonic Epilepsy Medicine & Life Sciences
Mutation Medicine & Life Sciences
Glycogen Medicine & Life Sciences
Genes Medicine & Life Sciences
Epilepsy Medicine & Life Sciences
Seizures Medicine & Life Sciences
Myoclonic Epilepsy Medicine & Life Sciences

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Research Output 1997 2019

Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome

Jiang, X., Raju, P. K., D'Avanzo, N., Lachance, M., Pepin, J., Dubeau, F., Mitchell, W. G., Bello-Espinosa, L. E., Pierson, T. M., Minassian, B. A., Lacaille, J. C. & Rossignol, E., Jan 1 2019, (Accepted/In press) In : Epilepsia.

Research output: Contribution to journalArticle

Brain Diseases
Mutation
HEK293 Cells
Fluorescence Microscopy
Epilepsy
1 Citation (Scopus)

Diabetes mellitus in a patient with lafora disease: Possible links with pancreatic β-cell dysfunction and insulin resistance

Nicolescu, R. C., Al-Khawaga, S., Minassian, B. A. & Hussain, K., Jan 1 2019, In : Frontiers in Pediatrics. 6, JAN, 424.

Research output: Contribution to journalArticle

Open Access
Lafora Disease
Glycogen
Insulin Resistance
Diabetes Mellitus
Mutation

Dominant LMAN2L mutation causes intellectual disability with remitting epilepsy

Alkhater, R. A., Wang, P., Ruggieri, A., Israelian, L., Walker, S., Scherer, S. W., Smith, M. L. & Minassian, B. A., Apr 1 2019, In : Annals of Clinical and Translational Neurology. 6, 4, p. 807-811 5 p.

Research output: Contribution to journalArticle

Open Access
Intellectual Disability
Epilepsy
Glycoproteins
Mutation
Missense Mutation

EEG of asymptomatic first-degree relatives of patients with juvenile myoclonic, childhood absence and rolandic epilepsy: a systematic review and meta-analysis

Tashkandi, M., Baarma, D., Tricco, A. C., Boelman, C., Alkhater, R. & Minassian, B. A., Feb 1 2019, In : Epileptic Disorders. 21, 1, p. 30-41 12 p.

Research output: Contribution to journalArticle

Rolandic Epilepsy
Myoclonic Epilepsy
Absence Epilepsy
Meta-Analysis
Electroencephalography
1 Citation (Scopus)

Skeletal Muscle Glycogen Chain Length Correlates with Insolubility in Mouse Models of Polyglucosan-Associated Neurodegenerative Diseases

Sullivan, M. A., Nitschke, S., Skwara, E. P., Wang, P., Zhao, X., Pan, X. S., Chown, E. E., Wang, T., Perri, A. M., Lee, J. P. Y., Vilaplana, F., Minassian, B. A. & Nitschke, F., Apr 30 2019, In : Cell Reports. 27, 5, p. 1334-1344.e6

Research output: Contribution to journalArticle

Open Access
Neurodegenerative diseases
Glycogen
Chain length
Neurodegenerative Diseases
Muscle