Autosomal Recessive NOTCH3-Related Leukodystrophy in Two Siblings and Review of the Literature

Author:

Al-Amrani Fatema,Al-Maawali Almundher,Al-Thihli Khalid,Al-Ajmi Eiman,Ganesh Anuradha,Al Futaisi Amna

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,Neurology,Pediatrics, Perinatology and Child Health

Reference18 articles.

1. Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis;Joutel;Lancet,2001

2. The pericyte: a critical cell in the pathogenesis of CADASIL;Ruchoux;Cereb Circ Cogn Behav,2021

3. Lateral meningocele (Lehman) syndrome: a child with a novel NOTCH3 mutation;Ejaz;Am J Med Genet,2016

4. Homozygous NOTCH 3 null mutation and impaired NOTCH 3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy;Pippucci;EMBO Mol Med,2015

5. A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke;Greisenegger;J Neurol,2021

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