Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Carina Imburgia"'
Autor:
Russell J. Butterfield, Carina Imburgia, Katie Mayne, Tara Newcomb, Diane M. Dunn, Brett Duval, Marcia L. Feldkamp, Nicholas E. Johnson, Robert B. Weiss
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 4, Pp n/a-n/a (2021)
Abstract Background Myotonic dystrophy type 1 (DM1) is caused by CTG repeat expansions in the DMPK gene and is the most common form of muscular dystrophy. Patients can have long delays from onset to diagnosis, since clinical signs and symptoms are of
Externí odkaz:
https://doaj.org/article/884a44c305934ddda134cf24be79485e
Autor:
Nitish Khurana, Till Sünner, Oliver Hubbard, Carina Imburgia, Gregory J. Stoddard, Venkata Yellepeddi, Hamidreza Ghandehari, Kevin M. Watt
Publikováno v:
The AAPS Journal. 25
Autor:
Robert B. Weiss, Marcia L. Feldkamp, Diane M. Dunn, Tara M. Newcomb, Brett Duval, Russell J. Butterfield, Katie Mayne, Nicholas E. Johnson, Carina Imburgia
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 4, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background Myotonic dystrophy type 1 (DM1) is caused by CTG repeat expansions in the DMPK gene and is the most common form of muscular dystrophy. Patients can have long delays from onset to diagnosis, since clinical signs and symptoms are often nonsp
Autor:
Marcia L. Feldkamp, Diane M. Dunn, Katie Mayne, Russell J Butterfield, Carina Imburgia, Tara M. Newcomb, Nicholas E. Johnson, Brett Duval, Robert B. Weiss
Publikováno v:
Neurology
Objective:To determine whether the genetic prevalence of the CTG expansion in the DMPK gene associated with myotonic dystrophy (DM1) in an unbiased cohort is higher than previously reported population estimates, ranging from 5-20 per 100,000 individu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1cca4b8fc6fe79d2e0b9c22bb44c0cd
https://europepmc.org/articles/PMC8055332/
https://europepmc.org/articles/PMC8055332/
Autor:
Danielle Green, Carina Imburgia, Joseph Rower, Autumn McKnite, Walter Kelley, Christopher Reilly, Kevin Watt
Publikováno v:
Critical Care Medicine. 50:431-431
Autor:
Marcia L. Feldkamp, D M Dunn, Carina Imburgia, Russell J. Butterfield, Robert B. Weiss, D. Duval, Nicholas E. Johnson
Publikováno v:
Neuromuscular Disorders. 29:S51-S52