Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Heather L Paterson"'
Autor:
Leslie Hotchkiss, Hayes, Morgane, Perdomini, Asli, Aykanat, Casie A, Genetti, Heather L, Paterson, Belinda S, Cowling, Christian, Freitag, Alan H, Beggs
Publikováno v:
Neurology. Genetics. 8(6)
Centronuclear myopathy (CNM) due to mutations in the dynamin 2 gene,Pediatric and adult patients with suspicion for a CNM diagnosis and confirmed heterozygous pathogenic variants inForty-two patients with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::70357583783c8380a5d1d2c140673e42
https://pubmed.ncbi.nlm.nih.gov/36324371
https://pubmed.ncbi.nlm.nih.gov/36324371
Autor:
Leslie Hotchkiss Hayes, Morgane Perdomini, Asli Aykanat, Casie A. Genetti, Heather L. Paterson, Belinda S. Cowling, Christian Freitag, Alan H. Beggs
Publikováno v:
Neurology Genetics. 8:e200027
Background and ObjectivesCentronuclear myopathy (CNM) due to mutations in the dynamin 2 gene,DNM2, is a rare neuromuscular disease about which little is known. The objective of this study was to describe the range of clinical presentations and subseq
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8d1f2cfb5adc10661ec4e6dd99d35f7e
https://doi.org/10.1212/nxg.0000000000200027
https://doi.org/10.1212/nxg.0000000000200027
Autor:
Jianqiao Li, Margaret A Hojlo, Sampath Chennuri, Nitin Gujral, Heather L Paterson, Kent A Shefchek, Casie A Genetti, Emily L Cohn, Kara C Sewalk, Emily A Garvey, Elizabeth D Buttermore, Nickesha C Anderson, Alan H Beggs, Pankaj B Agrawal, John S Brownstein, Melissa A Haendel, Ingrid A Holm, Joseph Gonzalez-Heydrich, Catherine A Brownstein
BACKGROUND 16p13.11 microduplication syndrome has a variable presentation and is characterized primarily by neurodevelopmental and physical phenotypes resulting from copy number variation at chromosome 16p13.11. Given its variability, there may be fe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::116adeaf50cffdad5006afba038fe842
https://doi.org/10.2196/preprints.21023
https://doi.org/10.2196/preprints.21023
Publikováno v:
The Yale Journal of Biology and Medicine
Tissue-specific enhancers are critical for gene regulation. In this study, we help elucidate the contribution of muscle-associated differential DNA methylation to the enhancer activity of highly muscle-specific genes. By bioinformatic analysis of 44
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7bc57c7898712ea589d92261cc8fb8b5
https://pubmed.ncbi.nlm.nih.gov/28018137
https://pubmed.ncbi.nlm.nih.gov/28018137