Associated Papers
Snapshots from within the cell: Novel trafficking and non trafficking functions of Snap29 during tissue morphogenesis.
Smeele PH et al.
Seminars in Cell & Developmental Biology, 2023
CEDNIK syndrome with phenotypic variability.
Nanda A et al.
Pediatric Dermatology, 2022
New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra.
Mah-Som AY et al.
Neurology. Genetics, 2021
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Arabs_not_Negev_Bedouins_
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).
Llaci L et al.
Human Genetics, 2019
New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation.
Ben-Salem S et al.
The Journal of Dermatology, 2015
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.
McDonald-McGinn DM et al.
Journal of Medical Genetics, 2013
Loss of SNAP29 impairs endocytic recycling and cell motility.
Rapaport D et al.
Plos One, 2010
A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma.
Sprecher E et al.
American Journal of Human Genetics, 2005
CEDNIK: Phenotypic and Molecular Characterization of an Additional Patient and Review of the Literature.
Hsu T et al.
Child Neurology Open, 0
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