Marina Michelson

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Enza Maria Valente, Clare V. Logan, Soumaya Mougou-Zerelli et al. · Nature Genetics · 2010 · 285 citations

Life Sciences, Genetics, Molecular Genetics +8

Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A

Lubov Blumkin, Esther Leshinsky‐Silver, Marina Michelson et al. · European Journal of Paediatric Neurology · 2015 · 60 citations

Life Sciences, Genetics, Molecular Genetics +4

Congenital Ataxia, Mental Retardation, and Dyskinesia Associated With a Novel CACNA1A Mutation

Lubov Blumkin, Marina Michelson, Esther Leshinsky‐Silver et al. · Journal of Child Neurology · 2010 · 56 citations

Medicine, Genetics, Neurology +15

Delineation of the interstitial 6q25 microdeletion syndrome: Refinement of the critical causative region

Marina Michelson, Anat Ben‐Sasson, Chana Vinkler et al. · American Journal of Medical Genetics Part A · 2012 · 22 citations

Life Sciences, Genetics, Molecular Genetics +17

Familial partial trisomy 15q11-13 presenting as intractable epilepsy in the child and schizophrenia in the mother

Marina Michelson, Avi Eden, Chana Vinkler et al. · European Journal of Paediatric Neurology · 2010 · 22 citations

Medicine, Genetics, Pediatrics +14