Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Kelly A Rich"'
Publikováno v:
Biomarker Insights, Vol 16 (2021)
The availability of disease modifying therapies for spinal muscular atrophy (SMA) has created an urgent need to identify clinically meaningful biomarkers. Biomarkers present a means to measure and evaluate neurological disease across time. Changes in
Externí odkaz:
https://doaj.org/article/f1527f418a2d4bbf833ccb2dfd79efb1
Autor:
Kelly A. Rich, Tia Moscarello, Carly Siskind, Guy Brock, Christopher A. Tan, Matteo Vatta, Thomas L. Winder, Bakri Elsheikh, Leah Vicini, Brianna Tucker, Marilly Palettas, Ray E. Hershberger, John T. Kissel, Ana Morales, Jennifer Roggenbuck
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Abstract Background Variants in TTN are frequently identified in the genetic evaluation of skeletal myopathy or cardiomyopathy. However, due to the high frequency of TTN variants in the general population, incomplete penetrance, and limited understan
Externí odkaz:
https://doaj.org/article/c9ff0cedae104cbf87a7dbbc61d9cf7f
Publikováno v:
The Aesthetic Life of Infrastructure ISBN: 9780810145528
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::43ca32422426ce05b4f275c4c898905b
https://doi.org/10.2307/j.ctv34dm7fx.4
https://doi.org/10.2307/j.ctv34dm7fx.4
Autor:
Kelly A. Rich, Megan G. Pino, Mehmet E. Yalvac, Ashley Fox, Hallie Harris, Maria H.H. Balch, W. David Arnold, Stephen J. Kolb
Publikováno v:
Neurobiology of Disease. 182:106148
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a07e4742bfdab77f16b261b5735de147
https://doi.org/10.1016/j.nbd.2023.106148
https://doi.org/10.1016/j.nbd.2023.106148
Autor:
Kelly Mee Rich, Christopher Holmes
Publikováno v:
MFS Modern Fiction Studies. 67:1-19
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8206b06ea30b6ca9582723c0a95f0140
https://doi.org/10.1353/mfs.2021.0000
https://doi.org/10.1353/mfs.2021.0000
Autor:
Kelly M. Rich
Publikováno v:
Contemporary Literature. 60:461-468
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::158f8ef8917b8f4387532f244f5f3dd5
https://doi.org/10.3368/cl.60.3.461
https://doi.org/10.3368/cl.60.3.461
Autor:
Raphael A. Malbrue, Lori Mattox, Stephen J. Kolb, Charlotte J. Sumner, Jessica Russo, Kelly A. Rich, Megan G. Pino, Patrick L. Heilman, Christopher G. Wier, Lingling Kong, Elizabeth Keckley, Anthony B. Reynolds, Amy Knapp, Catalin S. Buhimschi
Publikováno v:
Gene Ther
Numerous pediatric neurogenetic diseases may be optimally treated by in utero gene therapy (IUGT); but advancing such treatments requires animal models that recapitulate developmental physiology relevant to humans. One disease that could benefit from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31b849da8aafad37f4d434196f7e736d
https://europepmc.org/articles/PMC10216882/
https://europepmc.org/articles/PMC10216882/
Autor:
Jerry Reynolds, Stephen J. Kolb, W. David Arnold, Gary Brent Sterling, Kelly A. Rich, Kristina M Kelly, Tristan Weaver, Mathew Linsenmayer, Sarah Heintzman, Amy Bartlett, Megan G. Pino, Kiran Rajneesh, Marco Tellez, Steven Severyn, Ashley Fox, Mehmet Emir Yalvaç, Bakri Elsheikh
Publikováno v:
Journal of neuromuscular diseases. 9(1)
Objective: To retrospectively evaluate the utility of serum and cerebrospinal fluid (CSF) levels of neurofilament light chain (NfL) and phosphorylated neurofilament heavy chain (pNfH) as biomarkers for spinal muscular atrophy (SMA) progression and re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0c66f2aee11df4e94f29b51677bd827
https://pubmed.ncbi.nlm.nih.gov/34776417
https://pubmed.ncbi.nlm.nih.gov/34776417
Searching Far and Genome-Wide: The Relevance of Association Studies in Amyotrophic Lateral Sclerosis
Publikováno v:
Frontiers in Neuroscience
Frontiers in Neuroscience, Vol 14 (2021)
Frontiers in Neuroscience, Vol 14 (2021)
Genome-wide association studies (GWAS) and rare variant association studies (RVAS) are applied across many areas of complex disease to analyze variation in whole genomes of thousands of unrelated patients. These approaches are able to identify varian
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a6ed265a593ca2a574591996ee3b0a7
https://pubmed.ncbi.nlm.nih.gov/33584177
https://pubmed.ncbi.nlm.nih.gov/33584177
Autor:
Leah Vicini, Brianna M. Tucker, John T. Kissel, Kelly A. Rich, Tia Moscarello, Matteo Vatta, Guy Brock, Bakri Elsheikh, Ana Morales, Jennifer Roggenbuck, Ray E. Hershberger, C. Tan, Marilly Palettas, Carly E. Siskind, Thomas L. Winder
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background Variants in TTN are frequently identified in the genetic evaluation of skeletal myopathy or cardiomyopathy. However, due to the high frequency of TTN variants in the general population, incomplete penetrance, and limited understanding of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70b85afd65fd4324090bd8164fe42107
https://doi.org/10.1002/mgg3.1460
https://doi.org/10.1002/mgg3.1460