Muhannad Daana

Jerusalem, JM, Israel

Last Updated: 09/26/2026

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Found 16 publications

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 18, 2023

A neurodevelopmental disorder associated with a loss-of-function missense mutation in RAB35.

A neurodevelopmental disorder associated with a loss-of-function missense mutation in RAB35.

Journal: The Journal of biological chemistry

Published: August 01, 2023

USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms.

USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms.

Journal: Life science alliance

Published: July 07, 2023

Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.

Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.

Journal: American journal of human genetics

Published: June 30, 2023

SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.

SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.

Journal: Brain : a journal of neurology

Published: April 08, 2022

Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity.

Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity.

Journal: Brain : a journal of neurology

Published: June 21, 2021

Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state.

Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state.

Journal: Journal of medical genetics

Published: February 17, 2021

Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features.

Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features.

Journal: Neurogenetics

Published: May 03, 2019

Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy.

Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy.

Journal: European journal of human genetics : EJHG

Published: October 26, 2018

Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay.

Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay.

Journal: European journal of human genetics : EJHG

Published: June 19, 2018

Congenital myasthenic syndrome in Israel: Genetic and clinical characterization.

Congenital myasthenic syndrome in Israel: Genetic and clinical characterization.

Journal: Neuromuscular disorders : NMD

Published: June 23, 2016

Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway.

Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway.

Journal: Human molecular genetics

Published: June 02, 2016

Showing 1-12 of 16

Last Updated: 09/26/2026