Talya Dor

Jerusalem, JM 91090, Israel

Last Updated: 09/26/2026

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Found 15 publications

A deleterious variant of INTS1 leads to disrupted sleep-wake cycles.

A deleterious variant of INTS1 leads to disrupted sleep-wake cycles.

Journal: Disease models & mechanisms

Published: February 05, 2024

Essential components of an effective transition from paediatric to adult neurologist care for adolescents with Duchenne muscular dystrophy; a consensus derived using the Delphi methodology in Eastern Europe, Greece and Israel.

Essential components of an effective transition from paediatric to adult neurologist care for adolescents with Duchenne muscular dystrophy; a consensus derived using the Delphi methodology in Eastern Europe, Greece and Israel.

Journal: Orphanet journal of rare diseases

Published: October 25, 2023

Growth hormone therapy for children with Duchenne muscular dystrophy and glucocorticoid induced short stature.

Growth hormone therapy for children with Duchenne muscular dystrophy and glucocorticoid induced short stature.

Journal: Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society

Published: May 21, 2023

Inhibition of nonsense-mediated mRNA decay may improve stop codon read-through therapy for Duchenne muscular dystrophy.

Inhibition of nonsense-mediated mRNA decay may improve stop codon read-through therapy for Duchenne muscular dystrophy.

Journal: Human molecular genetics

Published: December 15, 2022

Erratum to "Safety and clinical outcome of tamoxifen in Duchenne Muscular Dystrophy" [Neuromuscular Disorders 31 (2021) 803-813].

Erratum to "Safety and clinical outcome of tamoxifen in Duchenne Muscular Dystrophy" [Neuromuscular Disorders 31 (2021) 803-813].

Journal: Neuromuscular disorders : NMD

Published: March 12, 2022

A Zebrafish Model for a Rare Genetic Disease Reveals a Conserved Role for FBXL3 in the Circadian Clock System.

A Zebrafish Model for a Rare Genetic Disease Reveals a Conserved Role for FBXL3 in the Circadian Clock System.

Journal: International journal of molecular sciences

Published: February 01, 2022

Safety and clinical outcome of tamoxifen in Duchenne muscular dystrophy.

Safety and clinical outcome of tamoxifen in Duchenne muscular dystrophy.

Journal: Neuromuscular disorders : NMD

Published: December 24, 2020

Monitoring liver damage using hepatocyte-specific methylation markers in cell-free circulating DNA.

Monitoring liver damage using hepatocyte-specific methylation markers in cell-free circulating DNA.

Journal: JCI insight

Published: February 22, 2018

Congenital myopathy due to myosin heavy chain 2 mutation presenting as chronic aspiration pneumonia in infancy.

Congenital myopathy due to myosin heavy chain 2 mutation presenting as chronic aspiration pneumonia in infancy.

Journal: Neuromuscular disorders : NMD

Published: March 04, 2017

Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization.

Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization.

Journal: Neurogenetics

Published: July 28, 2015

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.

Journal: Nature communications

Published: February 12, 2014

KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction.

KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction.

Journal: Journal of medical genetics

Published: December 10, 2013

Showing 1-12 of 15

Last Updated: 09/26/2026