Peter B Crino
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Explore the profile of Peter B Crino including associated specialties, affiliations and a list of published articles.
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109
Citations
3834
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Recent Articles
1.
Lai D, Sosicka P, Williams D, Bowyer M, Ressler A, Kohrt S, et al.
bioRxiv
. 2025 Jan;
PMID: 39763953
encodes a UDP-galactose transporter essential for glycosylation of proteins and galactosylation of lipids and glycosaminoglycans. Germline genetic variants have been identified in congenital disorders of glycosylation and somatic variants have...
2.
Yoon H, Ringland A, Anderson J, Sran S, Elziny S, Huynh C, et al.
Epilepsia
. 2024 Oct;
65(12):3717-3731.
PMID: 39460689
Objective: Brain somatic variants in SLC35A2 were recently identified as a genetic marker for mild malformations of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE). The role of SLC35A2 in...
3.
Elziny S, Sran S, Yoon H, Corrigan R, Page J, Ringland A, et al.
Neurosci Lett
. 2024 Jun;
836:137881.
PMID: 38909838
Brain somatic variants in SLC35A2, an intracellular UDP-galactose transporter, are commonly identified mutations associated with drug-resistant neocortical epilepsy and developmental brain malformations, including focal cortical dysplasia type I and mild...
4.
Robertson C, Davis P, Richardson R, Iffland 2nd P, Vieira D, Steyert M, et al.
bioRxiv
. 2023 Dec;
PMID: 38106154
Generating animal models for individual patients within clinically-useful timeframes holds great potential toward enabling personalized medicine approaches for genetic epilepsies. The ability to rapidly incorporate patient-specific genomic variants into model...
5.
Elziny S, Sran S, Yoon H, Corrigan R, Page J, Ringland A, et al.
bioRxiv
. 2023 Dec;
PMID: 38077069
Brain somatic variants in are associated with clinically drug-resistant epilepsy and developmental brain malformations, including mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE). encodes a uridine diphosphate...
6.
Elziny S, Crino P, Winawer M
Neurobiol Dis
. 2023 Sep;
187:106299.
PMID: 37739137
De novo somatic (post-zygotic) gene mutations affecting neuroglial progenitor cell types in embryonic cerebral cortex are increasingly identified in patients with drug resistant epilepsy (DRE) associated with malformations of cortical...
7.
Elziny S, Crino P
eNeuro
. 2023 Jul;
10(7).
PMID: 37479502
M. Dusing, C. L. LaSarge, A. White, L. G. Jerow, C. Gross and S. C. Danzer, "Neurovascular Development in and Mouse Mutants."
8.
Levitin M, Rawlins L, Sanchez-Andrade G, Arshad O, Collins S, Sawiak S, et al.
Brain
. 2023 Jul;
146(11):4766-4783.
PMID: 37437211
KPTN-related disorder is an autosomal recessive disorder associated with germline variants in KPTN (previously known as kaptin), a component of the mTOR regulatory complex KICSTOR. To gain further insights into...
9.
Farach L, Northrup H, Nellist M, van Unen L, Hillman P, Klonowska K, et al.
Gene
. 2023 Jun;
877:147566.
PMID: 37311496
Introduction: Technological advances in genetic testing, particularly the adoption of noninvasive prenatal screening (NIPS) for single gene disorders such as tuberous sclerosis complex (TSC, OMIM# 613254), mean that putative/possible pathogenetic...
10.
Barba C, Blumcke I, Winawer M, Hartlieb T, Kang H, Grisotto L, et al.
Neurology
. 2022 Oct;
100(5):e528-e542.
PMID: 36307217
Background And Objectives: The gene, located at chromosome Xp11.23, encodes for a uridine diphosphate-galactose transporter. We describe clinical, genetic, neuroimaging, EEG, and histopathologic findings and assess possible predictors of postoperative...