Lubov Blumkin

Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

Gillian Rice, Sehoon Park, Francesco Gavazzi et al. · Human Mutation · 2020 · 107 citations · Full text

Medical Cannabis for Pediatric Moderate to Severe Complex Motor Disorders

Stéphanie Libzon, Lihi Bar‐Lev Schleider, Naama Saban et al. · Journal of Child Neurology · 2018 · 74 citations

Pain Disorders, Complex Motor Disorder, Cannabinoid Pharmacology +23

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Darius Ebrahimi‐Fakhari, Julian Teinert, Robert Behne et al. · Brain · 2019 · 74 citations · Full text

Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47)

Peter Bauer, Esther Leshinsky‐Silver, Lubov Blumkin et al. · Neurogenetics · 2012 · 61 citations · Full text

Genetic Disorder, Genetics, Molecular Biology +3

A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome

Lubov Blumkin, Sara Kivity, Dorit Lev et al. · Journal of Neurology · 2012 · 59 citations

Mendelian Disorder, Genetic Disorder, Medicine +10