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Berge Minassian

Showing results (11-20 of 20) with videos related to

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Annals of Clinical and Translational Neurology|December 20, 2018
Optical coherence tomography features in brothers with aspartylglucosaminuriaKimberly Goodspeed, Lana Harder, Samuel Hughes, et al.
Neurology(R) Neuroimmunology & Neuroinflammation|March 5, 2015
Rasmussen encephalitis: Response to early immunotherapy in a case of immune-mediated encephalitisZuzana Liba, Osama Muthaffar, Joyce Tang, et al.
Molecular Genetics and Genomics : MGG|May 25, 2015
Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT geneCaro-Lyne Desroches, Jaina Patel, Peixiang Wang, et al.
Gene|April 12, 2015
Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 geneCaro-Lyne DesRoches, Jaina Patel, Peixiang Wang, et al.
G3 (Bethesda, Md.)|February 14, 2018
Genomic Context Analysis of <i>de Novo STXBP1</i> Mutations Identifies Evidence of Splice Site DNA-Motif Associated HotspotsMohammed Uddin, Marc Woodbury-Smith, Ada J S Chan, et al.
Neurology. Genetics|April 28, 2020
Polygenic risk scores of several subtypes of epilepsies in a founder populationClaudia Moreau, Rose-Marie Rébillard, Stefan Wolking, et al.
Ebiomedicine|November 28, 2025
First-in-human high dose AAV9 intrathecal gene therapy for paediatric CLN7 disease: a phase 1, open-label, single ascending dose, non-randomised clinical trialBenjamin M Greenberg, Berge Minassian, Souad Messahel, et al.
Human Mutation|April 4, 2003
Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosisCarla A Teixeira, Janice Espinola, Liang Huo, et al.
Epilepsia|March 15, 2006
Clinical and genetic findings in 26 Italian patients with Lafora diseaseSilvana Franceschetti, Antonio Gambardella, Laura Canafoglia, et al.
Hepatology (Baltimore, Md.)|March 8, 2020
Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver DiseaseMagda Cannata Serio, Laurie A Graham, Angel Ashikov, et al.
Pageof 2

Showing results (11-20 of 20) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 20 results.
Annals of Clinical and Translational Neurology|December 20, 2018
Optical coherence tomography features in brothers with aspartylglucosaminuriaKimberly Goodspeed, Lana Harder, Samuel Hughes, et al.
Neurology(R) Neuroimmunology & Neuroinflammation|March 5, 2015
Rasmussen encephalitis: Response to early immunotherapy in a case of immune-mediated encephalitisZuzana Liba, Osama Muthaffar, Joyce Tang, et al.
Molecular Genetics and Genomics : MGG|May 25, 2015
Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT geneCaro-Lyne Desroches, Jaina Patel, Peixiang Wang, et al.
Gene|April 12, 2015
Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 geneCaro-Lyne DesRoches, Jaina Patel, Peixiang Wang, et al.
G3 (Bethesda, Md.)|February 14, 2018
Genomic Context Analysis of <i>de Novo STXBP1</i> Mutations Identifies Evidence of Splice Site DNA-Motif Associated HotspotsMohammed Uddin, Marc Woodbury-Smith, Ada J S Chan, et al.
Neurology. Genetics|April 28, 2020
Polygenic risk scores of several subtypes of epilepsies in a founder populationClaudia Moreau, Rose-Marie Rébillard, Stefan Wolking, et al.
Ebiomedicine|November 28, 2025
First-in-human high dose AAV9 intrathecal gene therapy for paediatric CLN7 disease: a phase 1, open-label, single ascending dose, non-randomised clinical trialBenjamin M Greenberg, Berge Minassian, Souad Messahel, et al.
Human Mutation|April 4, 2003
Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosisCarla A Teixeira, Janice Espinola, Liang Huo, et al.
Epilepsia|March 15, 2006
Clinical and genetic findings in 26 Italian patients with Lafora diseaseSilvana Franceschetti, Antonio Gambardella, Laura Canafoglia, et al.
Hepatology (Baltimore, Md.)|March 8, 2020
Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver DiseaseMagda Cannata Serio, Laurie A Graham, Angel Ashikov, et al.
Pageof 2