Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Paldeep Atwal"'
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100916- (2022)
We report the case of a medically complex African American adult female with ornithine transcarbamylase (OTC) deficiency diagnosed after lifelong protein aversion and new onset of chronic vomiting and abdominal pain with intermittent lethargy and con
Externí odkaz:
https://doaj.org/article/6f78b44aed9b487eb3ef03a53264e964
Autor:
Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema, Jill Rosenfeld, Pengfei Liu, Hui Guo, Chang N. Kim, Bert B. A. De Vries, Lisenka E. L. M. Vissers, Magnus Nordenskjold, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jozef Gecz, Maria Iascone, Anna Cereda, Agnese Scatigno, Silvia Maitz, Ginevra Zanni, Enrico Bertini, Christiane Zweier, Sarah Schuhmann, Antje Wiesener, Micah Pepper, Heena Panjwani, Erin Torti, Farida Abid, Irina Anselm, Siddharth Srivastava, Paldeep Atwal, Carlos A. Bacino, Gifty Bhat, Katherine Cobian, Lynne M. Bird, Jennifer Friedman, Meredith S. Wright, Bert Callewaert, Florence Petit, Sophie Mathieu, Alexandra Afenjar, Celenie K. Christensen, Kerry M. White, Orly Elpeleg, Itai Berger, Edward J. Espineli, Christina Fagerberg, Charlotte Brasch-Andersen, Lars Kjærsgaard Hansen, Timothy Feyma, Susan Hughes, Isabelle Thiffault, Bonnie Sullivan, Shuang Yan, Kory Keller, Boris Keren, Cyril Mignot, Frank Kooy, Marije Meuwissen, Alice Basinger, Mary Kukolich, Meredith Philips, Lucia Ortega, Margaret Drummond-Borg, Mathilde Lauridsen, Kristina Sorensen, Anna Lehman, CAUSES Study, Elena Lopez-Rangel, Paul Levy, Davor Lessel, Timothy Lotze, Suneeta Madan-Khetarpal, Jessica Sebastian, Jodie Vento, Divya Vats, L. Manace Benman, Shane Mckee, Ghayda M. Mirzaa, Candace Muss, John Pappas, Hilde Peeters, Corrado Romano, Maurizio Elia, Ornella Galesi, Marleen E. H. Simon, Koen L. I. van Gassen, Kara Simpson, Robert Stratton, Sabeen Syed, Julien Thevenon, Irene Valenzuela Palafoll, Antonio Vitobello, Marie Bournez, Laurence Faivre, Kun Xia, SPARK Consortium, Rachel K. Earl, Tomasz Nowakowski, Raphael A. Bernier, Evan E. Eichler
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-26 (2021)
Abstract Background With the increasing number of genomic sequencing studies, hundreds of genes have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery far outpaces our understanding of genotype–phenotype correlation
Externí odkaz:
https://doaj.org/article/8b3afcd6ab86417381f08c0b4a3a4364
Autor:
Darius Adams, Mark Midei, Jahannaz Dastgir, Christina Flora, Robert J Molinari, Frederic Heerinckx, Sarah Endemann, Paldeep Atwal, Peter Milner, Mikhail S. Shchepinov
Publikováno v:
JIMD Reports, Vol 54, Iss 1, Pp 54-60 (2020)
Abstract Background Infantile neuroaxonal dystrophy (INAD) is a rare, autosomal recessive disease due to defects in PLA2G6 and is associated with lipid peroxidation. RT001 is a di‐deuterated form of linoleic acid that protects lipids from oxidative
Externí odkaz:
https://doaj.org/article/39110a888b0543f1bda4a330bf80b067
Autor:
Plamena R. Angelova, Kristin M. Andruska, Mark G. Midei, Mario Barilani, Paldeep Atwal, Oliver Tucher, Peter Milner, Frederic Heerinckx, Mikhail S. Shchepinov
Publikováno v:
Antioxidants, Vol 10, Iss 7, p 1021 (2021)
Progressive supranuclear palsy (PSP) is a progressive movement disorder associated with lipid peroxidation and intracerebral accumulation of tau. RT001 is a deuterium reinforced isotopologue of linoleic acid that prevents lipid peroxidation (LPO) thr
Externí odkaz:
https://doaj.org/article/e8659cfd4ff74cf387d8f09a350c6e5a
Publikováno v:
Genetics in Medicine. 24:S309-S310
Autor:
Nori Williams, Jacquelyn Mahder, Heather Glessner, Stephanie Ashley, Robin King, Paldeep Atwal
Publikováno v:
Genetics in Medicine. 24:S42
Autor:
Gillentine, Madelyn A., Tianyun Wang, Hoekzema, Kendra, Rosenfeld, Jill, Pengfei Liu, Guo, Hui, Kim, Chang N., De Vries, Bert B. A., Lisenka E. L. M. Vissers, Nordenskjold, Magnus, Kvarnung, Malin, Lindstrand, Anna, Nordgren, Ann, Gecz, Jozef, Iascone, Maria, Cereda, Anna, Scatigno, Agnese, Maitz, Silvia, Zanni, Ginevra, Bertini, Enrico, Zweier, Christiane, Schuhmann, Sarah, Wiesener, Antje, Pepper, Micah, Panjwani, Heena, Torti, Erin, Abid, Farida, Anselm, Irina, Siddharth Srivastava, Paldeep Atwal, Bacino, Carlos A., Gifty Bhat, Cobian, Katherine, Bird, Lynne M., Friedman, Jennifer, Wright, Meredith S., Callewaert, Bert, Petit, Florence, Mathieu, Sophie, Afenjar, Alexandra, Celenie K. Christensen, White, Kerry M., Elpeleg, Orly, Berger, Itai, Espineli, Edward J., Fagerberg, Christina, Brasch-Andersen, Charlotte, Hansen, Lars Kjærsgaard, Feyma, Timothy, Hughes, Susan, Thiffault, Isabelle, Sullivan, Bonnie, Yan, Shuang, Keller, Kory, Keren, Boris, Mignot, Cyril, Kooy, Frank, Meuwissen, Marije, Basinger, Alice, Kukolich, Mary, Philips, Meredith, Ortega, Lucia, Drummond-Borg, Margaret, Lauridsen, Mathilde, Sorensen, Kristina, Lehman, Anna, Lopez-Rangel, Elena, Levy, Paul, Lessel, Davor, Lotze, Timothy, Suneeta Madan-Khetarpal, Sebastian, Jessica, Vento, Jodie, Vats, Divya, L. Manace Benman, Mckee, Shane, Ghayda M. Mirzaa, Muss, Candace, Pappas, John, Peeters, Hilde, Romano, Corrado, Elia, Maurizio, Galesi, Ornella, Simon, Marleen E. H., Van Gassen, Koen L. I., Simpson, Kara, Stratton, Robert, Sabeen Syed, Thevenon, Julien, Palafoll, Irene Valenzuela, Vitobello, Antonio, Bournez, Marie, Faivre, Laurence, Xia, Kun, Earl, Rachel K., Nowakowski, Tomasz, Bernier, Raphael A., Eichler, Evan E.
Additional file 3: Table S13. GenBank accession numbers.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d9fc3435ebdf93b1330183bb3432970
Autor:
Gillentine, Madelyn A., Tianyun Wang, Hoekzema, Kendra, Rosenfeld, Jill, Pengfei Liu, Guo, Hui, Kim, Chang N., De Vries, Bert B. A., Lisenka E. L. M. Vissers, Nordenskjold, Magnus, Kvarnung, Malin, Lindstrand, Anna, Nordgren, Ann, Gecz, Jozef, Iascone, Maria, Cereda, Anna, Scatigno, Agnese, Maitz, Silvia, Zanni, Ginevra, Bertini, Enrico, Zweier, Christiane, Schuhmann, Sarah, Wiesener, Antje, Pepper, Micah, Panjwani, Heena, Torti, Erin, Abid, Farida, Anselm, Irina, Siddharth Srivastava, Paldeep Atwal, Bacino, Carlos A., Gifty Bhat, Cobian, Katherine, Bird, Lynne M., Friedman, Jennifer, Wright, Meredith S., Callewaert, Bert, Petit, Florence, Mathieu, Sophie, Afenjar, Alexandra, Celenie K. Christensen, White, Kerry M., Elpeleg, Orly, Berger, Itai, Espineli, Edward J., Fagerberg, Christina, Brasch-Andersen, Charlotte, Hansen, Lars Kjærsgaard, Feyma, Timothy, Hughes, Susan, Thiffault, Isabelle, Sullivan, Bonnie, Yan, Shuang, Keller, Kory, Keren, Boris, Mignot, Cyril, Kooy, Frank, Meuwissen, Marije, Basinger, Alice, Kukolich, Mary, Philips, Meredith, Ortega, Lucia, Drummond-Borg, Margaret, Lauridsen, Mathilde, Sorensen, Kristina, Lehman, Anna, Lopez-Rangel, Elena, Levy, Paul, Lessel, Davor, Lotze, Timothy, Suneeta Madan-Khetarpal, Sebastian, Jessica, Vento, Jodie, Vats, Divya, L. Manace Benman, Mckee, Shane, Ghayda M. Mirzaa, Muss, Candace, Pappas, John, Peeters, Hilde, Romano, Corrado, Elia, Maurizio, Galesi, Ornella, Simon, Marleen E. H., Van Gassen, Koen L. I., Simpson, Kara, Stratton, Robert, Sabeen Syed, Thevenon, Julien, Palafoll, Irene Valenzuela, Vitobello, Antonio, Bournez, Marie, Faivre, Laurence, Xia, Kun, Earl, Rachel K., Nowakowski, Tomasz, Bernier, Raphael A., Eichler, Evan E.
Additional file 2: Supplementary Figures S1-S5. Fig. S1. Dendrogram of hnRNPs based on multiple sequence alignment of canonical amino acid sequences. Colors match those seen in Fig. 2. NDD hnRNPs are shown in black boxes. Fig. S2. Pathogenicity asses
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0981a81790c514a689c601a4b29ce74f
Publikováno v:
Endocrine Practice. 25:399