Extraneurological sparing in long‐lived typical Lafora disease

por Goldsmith, Danielle, Minassian, Berge A.
Publicado 2018

SUCLA2 Arg407Trp mutation can cause a nonprogressive movement disorder – deafness syndrome

por Alkhater, Reem A., Ahonen, Saija, Minassian, Berge A.
Publicado 2020

Chromosome 12p Deletion Spanning the GRIN2B Gene Presenting With a Neurodevelopmental Phenotype: A Case Report and Review of Literature

por Mishra, Navin, Kouzmitcheva, Elizabeth, Orsino, Angela, Minassian, Berge A.
Publicado 2016

PI4K2A deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome

por Alkhater, Reem A., Scherer, Stephen W., Minassian, Berge A., Walker, Susan
Publicado 2018

Diabetes Mellitus in a Patient With Lafora Disease: Possible Links With Pancreatic β-Cell Dysfunction and Insulin Resistance

por Nicolescu, Ramona C., Al-Khawaga, Sara, Minassian, Berge A., Hussain, Khalid
Publicado 2019

Sexually Divergent Mortality and Partial Phenotypic Rescue After Gene Therapy in a Mouse Model of Dravet Syndrome

por Niibori, Yosuke, Lee, Shiron J., Minassian, Berge A., Hampson, David R.
Publicado 2020

Ketogenic diet reduces Lafora bodies in murine Lafora disease

por Israelian, Lori, Wang, Peixiang, Gabrielian, Shoghig, Zhao, Xiaochu, Minassian, Berge A.
Publicado 2020

Pathogenesis of Lafora Disease: Transition of Soluble Glycogen to Insoluble Polyglucosan

por Sullivan, Mitchell A., Nitschke, Silvia, Steup, Martin, Minassian, Berge A., Nitschke, Felix
Publicado 2017

Two definite cases of sudden unexpected death in epilepsy in a family with a DEPDC5 mutation

por Nascimento, Fábio A., Borlot, Felippe, Cossette, Patrick, Minassian, Berge A., Andrade, Danielle M.
Publicado 2015

Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome

por Rodan, Lance H., Zak, Maria, Stavropoulos, James, Joseph-George, Ann M., Minassian, Berge A.
Publicado 2016

Retinal Phenotyping of a Murine Model of Lafora Disease

por Vincent, Ajoy, Ahmed, Kashif, Hussein, Rowaida, Berberovic, Zorana, Tumber, Anupreet, Zhao, Xiaochu, Minassian, Berge A.
Publicado 2023

Everolimus does not prevent Lafora body formation in murine Lafora disease

por Mishra, Navin, Wang, Peixiang, Goldsmith, Danielle, Zhao, Xiaochu, Xue, Yunlin, Christians, Uwe, Minassian, Berge A.
Publicado 2017

Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome

por Dad, Rubina, Walker, Susan, Scherer, Stephen W., Hassan, Muhammad Jawad, Kang, Suk Yun, Minassian, Berge A.
Publicado 2017

AAV-Mediated Artificial miRNA Reduces Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models

por Gumusgoz, Emrah, Kasiri, Sahba, Guisso, Dikran R., Wu, Jun, Dear, Matthew, Verhalen, Brandy, Minassian, Berge A.
Publicado 2022

Genome annotation for clinical genomic diagnostics: strengths and weaknesses

por Steward, Charles A., Parker, Alasdair P. J., Minassian, Berge A., Sisodiya, Sanjay M., Frankish, Adam, Harrow, Jennifer
Publicado 2017

Lafora disease in miniature Wirehaired Dachshunds

por Swain, Lindsay, Key, Gill, Tauro, Anna, Ahonen, Saija, Wang, Peixiang, Ackerley, Cameron, Minassian, Berge A., Rusbridge, Clare
Publicado 2017

Nationwide genetic testing towards eliminating Lafora disease from Miniature Wirehaired Dachshunds in the United Kingdom

por Ahonen, Saija, Seath, Ian, Rusbridge, Clare, Holt, Susan, Key, Gill, Wang, Travis, Wang, Peixiang, Minassian, Berge A.
Publicado 2018

Correction to: Nationwide genetic testing towards eliminating Lafora disease from Miniature Wirehaired Dachshunds in the United Kingdom

por Ahonen, Saija, Seath, Ian, Rusbridge, Clare, Holt, Susan, Key, Gill, Wang, Travis, Wang, Peixiang, Minassian, Berge A.
Publicado 2021

Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype

por Dad, Rubina, Walker, Susan, Scherer, Stephen W., Hassan, Muhammad Jawad, Alghamdi, Mohammad Domaia, Minassian, Berge A., Alkhater, Reem A.
Publicado 2017

Epilepsy phenotype in individuals with chromosomal duplication encompassing FGF12

por Willemsen, Marjolein H., Goel, Himanshu, Verhoeven, Judith S., Braakman, Hilde M. H., de Leeuw, Nicole, Freeth, Alison, Minassian, Berge A.
Publicado 2020