Aviva Valevski-Fattal

6 Weizman Street, 6423906
Tel Aviv, TA 64239, Israel

Last Updated: 09/26/2026

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Found 104 publications

NDUFS4, a mitochondrial complex I subunit, is essential for T-cell metabolic fitness and immune function.

NDUFS4, a mitochondrial complex I subunit, is essential for T-cell metabolic fitness and immune function.

Journal: Frontiers in immunology

Published: October 28, 2025

Respiratory effects of nusinersen treatment in pediatric patients with spinal muscular atrophy types 2 and 3.

Respiratory effects of nusinersen treatment in pediatric patients with spinal muscular atrophy types 2 and 3.

Journal: European journal of pediatrics

Published: July 02, 2025

A Novel Pathogenic Variant Identified in HIKESHI-Related Hypomyelinating Leukodystrophy Disrupts Heat Shock Response in iPSCs.

A Novel Pathogenic Variant Identified in HIKESHI-Related Hypomyelinating Leukodystrophy Disrupts Heat Shock Response in iPSCs.

Journal: International journal of molecular sciences

Published: May 23, 2025

Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.

Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.

Journal: NPJ genomic medicine

Published: March 11, 2025

Spectrum of Clinical and Imaging Features of Children With GFAP Astrocytopathy.

Spectrum of Clinical and Imaging Features of Children With GFAP Astrocytopathy.

Journal: Neurology(R) neuroimmunology & neuroinflammation

Published: November 20, 2024

A mouse model of GRIN2D developmental and epileptic encephalopathy recapitulates the human disease.

A mouse model of GRIN2D developmental and epileptic encephalopathy recapitulates the human disease.

Journal: Brain : a journal of neurology

Published: October 16, 2024

2024 update: European consensus statement on gene therapy for spinal muscular atrophy.

2024 update: European consensus statement on gene therapy for spinal muscular atrophy.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: May 01, 2024

Treating late-onset Tay Sachs disease: Brain delivery with a dual trojan horse protein.

Treating late-onset Tay Sachs disease: Brain delivery with a dual trojan horse protein.

Journal: Molecular therapy. Methods & clinical development

Published: April 26, 2024

Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newborns.

Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newborns.

Journal: Journal of inherited metabolic disease

Published: April 12, 2024

Clinical and neuroimaging patterns of perinatal intracranial haemorrhage in fetuses and term-born neonates: a prospective observational cohort study.

Clinical and neuroimaging patterns of perinatal intracranial haemorrhage in fetuses and term-born neonates: a prospective observational cohort study.

Journal: Archives of disease in childhood. Fetal and neonatal edition

Published: April 09, 2024

Neurodevelopmental outcome of perinatal intracranial haemorrhage in patients born at term: A prospective study.

Neurodevelopmental outcome of perinatal intracranial haemorrhage in patients born at term: A prospective study.

Journal: Developmental medicine and child neurology

Published: January 29, 2024

Heterozygous de novo variants in HSPD1 cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation.

Heterozygous de novo variants in HSPD1 cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation.

Journal: Journal of medical genetics

Published: January 08, 2024

Showing 1-12 of 104

Last Updated: 09/26/2026