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

ανά Jones, Melanie A., Grotewiel, Mike
Έκδοση 2010

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

ανά Gong, Qiuming, Jones, Melanie A., Zhou, Zhengfeng
Έκδοση 2005

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

ανά Martin, Ian, Jones, Melanie A., Grotewiel, Mike
Έκδοση 2009

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

ανά Jones, Melanie A., Gargano, Julia Warner, Rhodenizer, Devin, Martin, Ian, Bhandari, Poonam, Grotewiel, Mike
Έκδοση 2009

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

ανά Martin, Ian, Jones, Melanie A., Rhodenizer, Devin, Zheng, Jie, Warrick, John M., Seroude, Laurent, Grotewiel, Mike
Έκδοση 2009

Missense Mutations in CRELD1 Are Associated with Cardiac Atrioventricular Septal Defects

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

Lessons from a pair of siblings with BPAN

ανά Zarate, Yuri A, Jones, Julie R, Jones, Melanie A, Millan, Francisca, Juusola, Jane, Vertino-Bell, Annette, Schaefer, G Bradley, Kruer, Michael C
Τόπος έκδοσης Eur J Hum Genet (2016)

Lessons from a pair of siblings with BPAN

ανά Zarate, Yuri A, Jones, Julie R, Jones, Melanie A, Millan, Francisca, Juusola, Jane, Vertino-Bell, Annette, Schaefer, G Bradley, Kruer, Michael C
Τόπος έκδοσης Eur J Hum Genet (2016)

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

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

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

ανά 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.
Έκδοση 2011

Copy neutral absence of heterozygosity on chromosome 15 distal long arm: A surrogate marker for Prader–Willi/Angelman syndromes?

ανά Ortega, Veronica, Louie, Raymond J., Jones, Melanie A., Chaubey, Alka, DuPont, Barbara R., Britt, Allison, Ray, Joseph, McLean, Scott D., Littlejohn, Rebecca O., Velagaleti, Gopalrao
Τόπος έκδοσης Mol Cytogenet (2021)

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

ανά 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.
Έκδοση 2012

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

ανά 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
Έκδοση 2014

Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome

ανά 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.
Έκδοση 2012

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

ανά 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
Τόπος έκδοσης Clin Chem (2015)