Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Shade Moody"'
Publikováno v:
Case Reports in Pediatrics, Vol 2018 (2018)
Distal hereditary motor neuropathies (dHMN) are a rare heterogeneous group of inherited disorders specifically affecting the motor axons, leading to distal limb neurogenic muscular atrophy. The GARS gene has been identified as a causative gene respon
Externí odkaz:
https://doaj.org/article/89b443fc6e14497f93217153971123dd
Autor:
Alexander M. Holtz, Rachel VanCoillie, Elizabeth A. Vansickle, Deanna Alexis Carere, Kara Withrow, Erin Torti, Jane Juusola, Francisca Millan, Richard Person, Maria J. Guillen Sacoto, Yue Si, Ingrid M. Wentzensen, Jada Pugh, Georgia Vasileiou, Melissa Rieger, André Reis, Emanuela Argilli, Elliott H. Sherr, Kimberly A. Aldinger, William B. Dobyns, Theresa Brunet, Julia Hoefele, Matias Wagner, Benjamin Haber, Urania Kotzaeridou, Boris Keren, Delphine Heron, Cyril Mignot, Solveig Heide, Thomas Courtin, Julien Buratti, Serini Murugasen, Kirsten A. Donald, Emily O’Heir, Shade Moody, Katherine H. Kim, Barbara K. Burton, Grace Yoon, Miguel del Campo, Diane Masser-Frye, Mariya Kozenko, Christina Parkinson, Susan L. Sell, Patricia L. Gordon, Jeremy W. Prokop, Amel Karaa, Caleb Bupp, Benjamin A. Raby
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 24(10)
Nonmuscle myosin II complexes are master regulators of actin dynamics that play essential roles during embryogenesis with vertebrates possessing 3 nonmuscle myosin II heavy chain genes, MYH9, MYH10, and MYH14. As opposed to MYH9 and MYH14, no recogni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6a263cfcf99f60d266a1ceffe04e67a
https://pubmed.ncbi.nlm.nih.gov/35980381
https://pubmed.ncbi.nlm.nih.gov/35980381
Publikováno v:
Child Neurology Open, Vol 6 (2019)
Child Neurology Open
Child Neurology Open
Doublecortin (DCX) mutations cause abnormal development of the DCX protein that normally aids in neuronal migration during fetal development. These mutations lead to lissencephaly, or the appearance of a “smooth brain,” which is varying levels of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38662d5d4b3fa1960850e9b95d0fc64e
https://doaj.org/article/97104b435d5d476babf543ac855aafa4
https://doaj.org/article/97104b435d5d476babf543ac855aafa4