S. Aharoni

发表

Handwriting in children with Attention Deficient Hyperactive Disorder: role of graphology

A. Shuper, A. Halevy, Rony Cohen, 2019, BMC Pediatrics.

The Ketogenic Diet 2011: How It Works

A. Shuper, S. Aharoni, K. Politi, 2011, Epilepsy research and treatment.

Striking phenotypic variability in familial TRPV4‐axonal neuropathy spectrum disorder

A. Offiah, A. Crosby, G. Harlalka, 2011, American journal of medical genetics. Part A.

Clinical improvement of a toddler with COVID-19 focal cerebral arteriopathy possibly due to intra-arterial nimodipine

Y. Nevo, E. Nahum, R. Straussberg, 2022, European Journal of Paediatric Neurology.

Homozygous mutations in VAMP 1 cause a presynaptic congenital myasthenic syndrome

J. Rothman, B. Wirth, S. Efthymiou, 2017, Annals of neurology.

CD59 deficiency is associated with chronic hemolysis and childhood relapsing immune-mediated polyneuropathy.

Yair Anikster, Sharon Aharoni, Bruria Ben-Zeev, 2013, Blood.

Atypical Clinical Presentations of Pediatric Acute Immune-Mediated Polyneuropathy

Y. Nevo, S. Aharoni, M. Rabie, 2019, Journal of child neurology.

Broad Phenotypic Heterogeneity due to a Novel SCN1A Mutation in a Family With Genetic Epilepsy With Febrile Seizures Plus

A. Korczyn, Manuela Pendziwiat, I. Helbig, 2014, Journal of child neurology.

Substrate interaction defects in histidyl‐tRNA synthetase linked to dominant axonal peripheral neuropathy

S. Züchner, C. Francklyn, S. Oprescu, 2018, Human mutation.

Small‐fiber neuropathy associated with autoinflammatory syndromes in children and adolescents

N. Agmon-Levin, Y. Nevo, G. Amarilyo, 2020, Muscle & nerve.

Thick Corpus Callosum in Children

A. Shuper, A. Halevy, Rony Cohen, 2017, Journal of clinical neurology.

Interictal regional delta slowing in cerebral sinus vein thrombosis.

A. Shuper, L. Kornreich, S. Aharoni, 2015, The neurologist.

Impairments in communication and social interaction in children with neurofibromatosis type 1: Characteristics and role of ADHD and language delay

Rony Cohen, S. Aharoni, A. Halevi, 2020, Applied neuropsychology. Child.

Adeno-associated virus serotype 9 antibody titers in patients with SMA pre-screened for treatment with onasemnogene abeparvovec –routine care evidence

A. Fattal-Valevski, L. Sagi, Y. Nevo, 2022, Gene Therapy.

Impact of a national population-based carrier-screening program on spinal muscular atrophy births

H. Mussaffi, N. Orenstein, S. Ben-Shachar, 2020, Neuromuscular Disorders.

Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel

M. Weedon, M. McEntagart, A. Crosby, 2016, BMC Medical Genetics.

Muscle microRNAs in the cerebrospinal fluid predict clinical response to nusinersen therapy in type II and type III spinal muscular atrophy patients

A. Fattal-Valevski, L. Sagi, K. Swoboda, 2021, Neuromuscular Disorders.

New Hyperekplexia Mutations Provide Insight into Glycine Receptor Assembly, Trafficking, and Activation Mechanisms*

E. Karam, H. Mandel, S. Berkovic, 2013, The Journal of Biological Chemistry.

Evolution of EEG Findings in Pontocerebellar Hypoplasia Type 2A: Normal EEG in the First Few Months followed by Abnormal Tracing over the Years

L. Kornreich, R. Straussberg, A. Halevy, 2020, Neuropediatrics.

Polymicrogyria and myoclonic epilepsy in autosomal recessive cutis laxa type 2A

L. Basel‐Vanagaite, R. Straussberg, A. Halevy, 2016, neurogenetics.

Variable Myopathic Presentation in a Single Family with Novel Skeletal RYR1 Mutation

Y. Nevo, T. Dor, S. Treves, 2013, PloS one.

Pulmonary function tests for evaluating the severity of Duchenne muscular dystrophy disease

H. Mussaffi, D. Prais, Y. Nevo, 2023, Acta paediatrica.

COVID-19 in advanced Duchenne/Becker muscular dystrophy patients

D. Prais, Y. Nevo, S. Aharoni, 2021, Neuromuscular Disorders.

Brain imaging findings and social/emotional problems in Israeli children with neurofibromatosis type 1

A. Shuper, L. Kornreich, A. Halevy, 2015, European Journal of Pediatrics.

MELAS syndrome associated with both A3243G-tRNALeu mutation and multiple mitochondrial DNA deletions

E. Melamed, S. Aharoni, Sarit Cohen, 2010, Journal of Neurological Sciences.

Congenital myasthenic syndrome in Israel: Genetic and clinical characterization

Y. Shapira, A. Engel, N. Orenstein, 2015, Neuromuscular Disorders.

Prognostic Parameters of Acute Transverse Myelitis in Children

Y. Nevo, A. Shuper, A. Halevy, 2020, Journal of child neurology.

The Genetic, Functional, and Clinical Characteristics of Dystrophinopathy in a Single Tertiary Pediatric Center in Israel

N. Orenstein, Y. Nevo, S. Aharoni, 2023 .

Handwriting in Children with Attention Deficient Hyperactive Disorder: Analyzing by graphology

A. Shuper, A. Halevy, Rony Cohen, 2019 .

Real-Life Outcome After Gene Replacement Therapy for Spinal Muscular Atrophy: A Multicenter Experience.

A. Fattal-Valevski, L. Sagi, Y. Nevo, 2023, Pediatric neurology.

Striking phenotypic variability in familial TRPV4‐axonal neuropathy spectrum disorder

A. Offiah, A. Crosby, G. Harlalka, 2011, American journal of medical genetics. Part A.