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Kristina Bowyer

Explore the profile of Kristina Bowyer including associated specialties, affiliations and a list of published articles. Areas
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Recent Articles
1.
Moore K, Wolf N, Hobson G, Bowyer K, McSherry J, Hartin G, et al.
J Child Neurol . 2023 Feb; 38(1-2):78-84. PMID: 36744386
Pelizaeus-Merzbacher disease is a rare X-linked leukodystrophy accompanied by central nervous system hypomyelination with a spectrum of clinical phenotypes. This is the first survey of caregivers of individuals with Pelizaeus-Merzbacher...
2.
Ak M, Akturk Z, Bowyer K, Mignon L, Pasupuleti S, Glaze D, et al.
Pediatr Neurol . 2022 Jun; 133:1-8. PMID: 35716604
Background: MECP2 duplication syndrome (MDS) is a rare neurogenetic disorder characterized by severe neurodevelopmental disorder, refractory epilepsy, recurrent infections, and functional gastrointestinal problems. Because of the significant clinical problems and...
3.
Ak M, Suter B, Akturk Z, Harris H, Bowyer K, Mignon L, et al.
Mol Genet Genomic Med . 2022 Jun; 10(8):e1989. PMID: 35702943
Background: MECP2 Duplication Syndrome (MDS), resulting from the duplication of Xq28 region, including MECP2, is a rare disorder with a nascent understanding in clinical features and severity. Studies using antisense...