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Journal of Neuromuscular Diseases|January 28, 2020
Upregulation of Hallmark Muscle Genes Protects GneM743T/M743T Mutated Knock-In Mice From Kidney and Muscle PhenotypeHadar Benyamini, Yehuda Kling, Lena Yakovlev, et al.European Neurology|March 9, 2005
Extended phenotype in the transthyretin Tyr77 familial amyloid polyneuropathyAlexander Lossos, Dov Soffer, Bettina Steiner-Birmanns, et al.American Journal of Medical Genetics. Part A|June 5, 2003
Prevalence of myotonic dystrophy in Israeli Jewish communities: inter-community variation and founder premutationsReeval Segel, Shira Silverstein, Israela Lerer, et al.Neuromolecular Medicine|December 15, 2012
Variable phenotypes of knockin mice carrying the M712T Gne mutationIlan Sela, Lena Yakovlev, Michal Becker Cohen, et al.Biomed Research International|January 24, 2014
Presymptomatic treatment with acetylcholinesterase antisense oligonucleotides prolongs survival in ALS (G93A-SOD1) miceMarc Gotkine, Gotkine Marc, Leah Rozenstein, et al.FEBS Letters|May 19, 2004
The homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathyStephan Hinderlich, Ilan Salama, Iris Eisenberg, et al.Journal of Neuromuscular Diseases|June 14, 2024
Induced Muscle and Liver Absence of Gne in Postnatal Mice Does Not Result in Structural or Functional Muscle ImpairmentAvi Harazi, Lena Yakovlev, Nili Ilouz, et al.Journal of the Neurological Sciences|February 4, 2014
A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activityMarsha Zeigler, Vardiella Meiner, J P Newman, et al.Journal of Clinical Medicine|February 27, 2026
The Clinical, Histological, and Genetic Spectrum of <i>RYR1</i> Variants-A Multi-Center Israeli Cohort StudyMira Ginsberg, Marina Michelson, Sharon Aharoni, et al.Neuromuscular Disorders : NMD|May 29, 2012
Sustained expression and safety of human GNE in normal mice after gene transfer based on AAV8 systemic deliveryStella Mitrani-Rosenbaum, Lena Yakovlev, Michal Becker Cohen, et al.Pageof 6