Luba Blumkin
Tel Aviv University(IL)Wolfson Medical Center(IL)
Publications by Year
Research Areas
Mitochondrial Function and Pathology, RNA regulation and disease, Metabolism and Genetic Disorders, Neurogenetic and Muscular Disorders Research, RNA Research and Splicing
Most-Cited Works
- → De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy(2015)122 cited
- → Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype–phenotype correlation(2014)115 cited
- → Copy number variations in cryptogenic cerebral palsy(2015)103 cited
- → Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy(2021)30 cited
- → Progressive cerebello-cerebral atrophy and progressive encephalopathy with edema, hypsarrhythmia and optic atrophy may be allelic syndromes(2018)27 cited
- → Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic(2018)22 cited
- → Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration(2021)17 cited
- [Ketogenic diet as antiepileptic therapy: a description of the clinical experience and the multidisciplinary approach at the metabolic-neurogenetic clinic at the Wolfson Medical Center].(2004)