Lubov Blumkin

发表

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

E. Leshinsky‐Silver, D. Lev, T. Lerman-Sagie, 2012, Journal of Neurology.

Familial Intracranial Hypertension in 2 Brothers With PTEN Mutation: Expansion of the Phenotypic Spectrum

D. Lev, S. Constantini, T. Lerman-Sagie, 2019, Journal of child neurology.

Human Mutation

A. Vanderver, H. Brunner, P. Fockens, 2019 .

Medical Cannabis for Pediatric Moderate to Severe Complex Motor Disorders

T. Lerman-Sagie, Ilan Linder, L. Blumkin, 2018, Journal of child neurology.

Congenital Mirror Movements Associated With Brain Malformations

D. Lev, T. Lerman-Sagie, L. Blumkin, 2021, Journal of child neurology.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

J. Rosenfeld, I. Scheffer, H. Mefford, 2017, American journal of human genetics.

Costeff syndrome: clinical features and natural history

D. Lev, A. Schweiger, B. Pode-Shakked, 2014, Journal of Neurology.

Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder.

E. Leshinsky‐Silver, D. Lev, M. Henneke, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Brain white matter abnormalities associated with copy number variants

A. Vanderver, D. Lev, L. Ben‐Sira, 2020, American journal of medical genetics. Part A.

Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.

D. Timmann, A. Durr, L. Schöls, 2023, American journal of human genetics.

Highlighting the Dystonic Phenotype Related to GNAO1

N. Drouot, M. Vidailhet, L. Cif, 2022, Movement disorders : official journal of the Movement Disorder Society.

Human Mutation

Andrew C. R. Martin, C. T. Porter, D. Lev, 2020 .

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

A. Vanderver, Y. Crow, D. Lev, 2020, Human mutation.

Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?

K. Bhatia, D. Lev, W. Dobyns, 2020, American journal of medical genetics. Part A.

GRIN1 mutations cause encephalopathy with infantile‐onset epilepsy, and hyperkinetic and stereotyped movement disorders

D. Lev, N. Matsumoto, M. Shiina, 2015, Epilepsia.

A clinical diagnostic algorithm for early onset cerebellar ataxia.

E. Bertini, G. Vasco, C. Catsman-Berrevoets, 2019, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Familial leukoencephalopathy with slowly progressive dystonia and ataxia.

H. Mandel, D. Lev, T. Lerman-Sagie, 2009, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

E. Leshinsky‐Silver, D. Lev, T. Lerman-Sagie, 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Molecular and functional studies of retinal degeneration as a clinical presentation of SACS-related disorder.

E. Leshinsky‐Silver, D. Lev, T. Lerman-Sagie, 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Crowdfunding effort identifies the causative mutation in a patient with nystagmus, microcephaly, dystonia and hypomyelination.

N. Shomron, E. Leshinsky‐Silver, D. Lev, 2015, Journal of genetics and genomics = Yi chuan xue bao.

Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings.

E. Leshinsky‐Silver, D. Lev, N. Matsumoto, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

P. Bauer, L. Schöls, E. Leshinsky‐Silver, 2012, neurogenetics.

A new locus (SPG47) maps to 1p13.2–1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum

E. Leshinsky‐Silver, D. Lev, T. Lerman-Sagie, 2011, Journal of the Neurological Sciences.

Heterozygous Mutations in the ADCK3 Gene in Siblings with Cerebellar Atrophy and Extreme Phenotypic Variability.

E. Leshinsky‐Silver, D. Lev, T. Lerman-Sagie, 2013, JIMD reports.

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design

C. Shaw-Smith, P. Clouston, T. Dabir, 2023, Movement disorders : official journal of the Movement Disorder Society.

Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation.

E. Leshinsky‐Silver, D. Lev, A. Suls, 2012, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Metabolic stroke in a patient with bi-allelic OPA1 mutations

D. Lev, L. Ben‐Sira, T. Lerman-Sagie, 2019, Metabolic Brain Disease.

Hypomyelinating leukoencephalopathy with paroxysmal tonic upgaze and absence of psychomotor development

D. Lev, T. Lerman-Sagie, N. Watemberg, 2007, Movement disorders : official journal of the Movement Disorder Society.

Neurologic Involvement in a Child With Systemic Capillary Leak Syndrome

T. Lerman-Sagie, I. Cohen, L. Blumkin, 2010, Pediatrics.

The Neuropsychological profile of patients with 3‐Methylglutaconic aciduria type III, Costeff syndrome

D. Lev, A. Schweiger, Y. Anikster, 2015, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene

E. Leshinsky‐Silver, D. Lev, M. Knaap, 2014, neurogenetics.

Pediatric Refractory Partial Status Epilepticus Responsive to Topiramate

T. Lerman-Sagie, N. Watemberg, L. Blumkin, 2005, Journal of child neurology.

Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients

E. Leshinsky‐Silver, D. Lev, T. Lerman-Sagie, 2016, Journal of child neurology.

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

Steven P. Miller, A. Ziegler, D. Segal, 2020, Brain : a journal of neurology.

Clinical Correlates of Occipital Intermittent Rhythmic Delta Activity (OIRDA) in Children

T. Lerman-Sagie, N. Watemberg, Ilan Linder, 2007, Epilepsia.