Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Abhilasha Surampalli"'
Publikováno v:
PLoS ONE, Vol 14, Iss 9, p e0221615 (2019)
INTRODUCTION:Prader-Willi syndrome (PWS) is a complex genetic condition characterized by hyperphagia, hypotonia, low muscle mass, excess body fat, developmental delays, intellectual disability, behavioral problems, and growth hormone deficiency. This
Externí odkaz:
https://doaj.org/article/16efd6d72f0740e28b04bbf0c1f6d0df
Autor:
Caleb Bhatnagar, Jeet Shah, Bhumi Ramani, Abhilasha Surampalli, Mahima Avanti, Shlomit Radom-Aizik, Margaret Knight, Lan Weiss, Vince Caiozzo, Virginia Kimonis
Publikováno v:
Neuromuscular disorders : NMD. 32(4)
Pompe disease is a progressive myopathy resulting from deficiency in lysosomal enzyme acid α-glucosidase (GAA), which leads to glycogen accumulation in lysosomes primarily in skeletal and cardiac muscle. Enzyme replacement therapy (ERT) with recombi
Autor:
Tahseen Mozaffar, Charles D. Smith, Virginia Kimonis, Ebaa Al-Obeidi, Abhilasha Surampalli, Namita Goyal, Andreas Hermann, Molly Omizo, Annabel K. Wang, Sejad Al-Tahan
Publikováno v:
Clinical Genetics. 93:119-125
Mutations in valosin-containing protein (VCP), an ATPase involved in protein degradation and autophagy, cause VCP disease, a progressive autosomal dominant adult onset multisystem proteinopathy. The goal of this study is to examine if phenotypic diff
Autor:
Javeria Manazir, June-Anne Gold, Abhilasha Surampalli, Merlin G. Butler, Elisabeth M. Dykens, Roy N. Tamura, Virginia Kimonis, Daniel J. Driscoll, Nidhi Patel, Jennifer L. Miller, Elizabeth Roof
Publikováno v:
Genes
Genes, Vol 10, Iss 11, p 898 (2019)
Volume 10
Issue 11
Genes, Vol 10, Iss 11, p 898 (2019)
Volume 10
Issue 11
Prader&ndash
Willi syndrome (PWS) is an imprinting genetic disorder characterized by lack of expression of genes on the paternal chromosome 15q11&ndash
q13 region. Growth hormone (GH) replacement positively influences stature and body compo
Willi syndrome (PWS) is an imprinting genetic disorder characterized by lack of expression of genes on the paternal chromosome 15q11&ndash
q13 region. Growth hormone (GH) replacement positively influences stature and body compo
Publikováno v:
PLoS ONE
PloS one, vol 14, iss 9
PLoS ONE, Vol 14, Iss 9, p e0221615 (2019)
PloS one, vol 14, iss 9
PLoS ONE, Vol 14, Iss 9, p e0221615 (2019)
Author(s): Kimonis, Virginia; Surampalli, Abhilasha; Wencel, Marie; Gold, June-Anne; Cowen, Neil M | Abstract: INTRODUCTION:Prader-Willi syndrome (PWS) is a complex genetic condition characterized by hyperphagia, hypotonia, low muscle mass, excess bo
Autor:
Suzanne B. Cassidy, Merlin G. Butler, Nidhi Patel, Travis Thompson, June-Anne Gold, Virginia Kimonis, Manaswitha Khare, Abhilasha Surampalli, Naomi A. Matthews
Publikováno v:
Am J Med Genet A
Prader–Willi syndrome (PWS) is a genomic imprinting disorder characterized by infantile hypotonia with a poor suck and failure to thrive, hypogenitalism/hypogonadism, behavior and cognitive problems, hormone deficiencies, hyperphagia, and obesity.
Autor:
Chen Ma, Abhilasha Surampalli, Edward J. Lammer, Joel Shen, Laurence S. Baskin, John S. Witte, Sudeshna Dasgupta, Gary M. Shaw, Shweta Choudhry, Suzan L. Carmichael
Publikováno v:
Journal of Urology. 193:1625-1631
Estrogenic endocrine disruptors acting via estrogen receptors α (ESR1) and β (ESR2) have been implicated in the etiology of hypospadias, a common congenital malformation of the male external genitalia. We determined the association of single nucleo
Publikováno v:
International Journal of Biotechnology for Wellness Industries. 3:46-52
While there is no curative treatment for the Inclusion body myopathy, Paget disease of bone and/ or frontotemporal dementia (IBMPFD) disorder, it is worthwhile to investigate alternate therapies that may slow the progression of the disease and improv
Autor:
Merlin G. Butler, Stephanie Youn, Virginia Kimonis, Ann M. Manzardo, June-Anne Gold, Abhilasha Surampalli, Vy Dang
Prader-Willi syndrome (PWS) is a complex, multisystem genetic disorder characterized by endocrine, neurologic, and behavioral abnormalities. We report the first case of an unbalanced de novo reciprocal translocation of chromosomes 15 and 19, 45,XY,-1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb1a9b9b1774619dd2d1fd1678fac647
https://europepmc.org/articles/PMC5812461/
https://europepmc.org/articles/PMC5812461/
Autor:
Hon Yu, Abhilasha Surampalli, Brian T. Gold, Celeste Nguyen, Mary Lan, Sharon B. Wigal, Rudy J. Castellani, Virginia Kimonis, Manaswitha Khare, Marie Wencel, Charles D. Smith, Vince Caiozzo
Inclusion body myopathy, Paget disease of bone and/or frontotemporal dementia is an autosomal dominant disease caused by mutations in the Valosin Containing Protein (VCP) gene. We compared clinical findings including MRI images and neuropsychological
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5af611a17be9ecee30b4407acfa0b09
https://europepmc.org/articles/PMC5591024/
https://europepmc.org/articles/PMC5591024/