Drosophila as a Model for Age-Related Impairment in Locomotor and other Behaviors

Por Jones, Melanie A., Grotewiel, Mike
Publicado em 2010

Mechanisms of pharmacological rescue of trafficking defective hERG mutant channels in human long QT syndrome

Por Gong, Qiuming, Jones, Melanie A., Zhou, Zhengfeng
Publicado em 2005

Manipulation of Sod1 expression ubiquitously, but not in the nervous system or muscle, impacts age-related parameters in Drosophila

Por Martin, Ian, Jones, Melanie A., Grotewiel, Mike
Publicado em 2009

A forward genetic screen in Drosophila implicates insulin signaling in age-related locomotor impairment

Por Jones, Melanie A., Gargano, Julia Warner, Rhodenizer, Devin, Martin, Ian, Bhandari, Poonam, Grotewiel, Mike
Publicado em 2009

Sod2 knock-down in the musculature has whole organism consequences in Drosophila

Por Martin, Ian, Jones, Melanie A., Rhodenizer, Devin, Zheng, Jie, Warrick, John M., Seroude, Laurent, Grotewiel, Mike
Publicado em 2009

Missense Mutations in CRELD1 Are Associated with Cardiac Atrioventricular Septal Defects

Por Robinson, Susan W., Morris, Cynthia D., Goldmuntz, Elizabeth, Reller, Mark D., Jones, Melanie A., Steiner, Robert D., Maslen, Cheryl L.
Publicado em 2003

Lessons from a pair of siblings with BPAN

Por Zarate, Yuri A, Jones, Julie R, Jones, Melanie A, Millan, Francisca, Juusola, Jane, Vertino-Bell, Annette, Schaefer, G Bradley, Kruer, Michael C
Publicado no Eur J Hum Genet (2016)

Lessons from a pair of siblings with BPAN

Por Zarate, Yuri A, Jones, Julie R, Jones, Melanie A, Millan, Francisca, Juusola, Jane, Vertino-Bell, Annette, Schaefer, G Bradley, Kruer, Michael C
Publicado no Eur J Hum Genet (2016)

A splice site mutation in hERG leads to cryptic splicing in human long QT syndrome

Por Gong, Qiuming, Zhang, Li, Moss, Arthur J., Vincent, G. Michael, Ackerman, Michael J., Robinson, Jeffrey C., Jones, Melanie A., Tester, David J., Zhou, Zhengfeng
Publicado em 2008

Targeted PCR-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation (CDG)

Por Jones, Melanie A., Bhide, Shruti, Chin, Ephrem, Ng, Bobby G., Rhodenizer, Devin, Zhang, Victor W., Sun, Jessica J., Tanner, Alice, Freeze, Hudson H., Hegde, Madhuri R.
Publicado em 2011

DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation

Por Jones, Melanie A., Ng, Bobby G., Bhide, Shruti, Chin, Ephrem, Rhodenizer, Devin, He, Ping, Losfeld, Marie-Estelle, He, Miao, Raymond, Kimiyo, Berry, Gerard, Freeze, Hudson H., Hegde, Madhuri R.
Publicado em 2012

Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease

Por Jones, Melanie A., Amr, Sami, Ferebee, Aerial, Huynh, Phung, Rosenfeld, Jill A., Miles, Michael F., Davies, Andrew G., Korey, Christopher A., Warrick, John M., Shiang, Rita, Elsea, Sarah H., Girirajan, Santhosh, Grotewiel, Mike
Publicado em 2014

Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome

Por Ng, Bobby G., Hackmann, Karl, Jones, Melanie A., Eroshkin, Alexey M., He, Ping, Wiliams, Roy, Bhide, Shruti, Cantagrel, Vincent, Gleeson, Joseph G., Paller, Amy S., Schnur, Rhonda E., Tinschert, Sigrid, Zunich, Janice, Hegde, Madhuri R., Freeze, Hudson H.
Publicado em 2012

A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Phosphomannose Isome...

Por Zhang, Wenyue, James, Philip M., Ng, Bobby G., Li, Xueli, Xia, Baoyun, Rong, Jiang, Asif, Ghazia, Raymond, Kimiyo, Jones, Melanie A., Hegde, Madhuri, Ju, Tongzhong, Cummings, Richard D., Clarkson, Katie, Wood, Tim, Boerkoel, Cornelius F., Freeze, Hudson H., He, Miao
Publicado no Clin Chem (2015)