Zobrazeno 1 - 10
of 105
pro vyhledávání: '"Neal Sondheimer"'
Autor:
Ryan Iverson, Monica Taljaard, Michael T. Geraghty, Michael Pugliese, Kylie Tingley, Doug Coyle, Jonathan B. Kronick, Kumanan Wilson, Valerie Austin, Catherine Brunel-Guitton, Daniela Buhas, Nancy J. Butcher, Alicia K. J. Chan, Sarah Dyack, Sharan Goobie, Cheryl R. Greenberg, Shailly Jain-Ghai, Michal Inbar-Feigenberg, Natalya Karp, Mariya Kozenko, Erica Langley, Matthew Lines, Julian Little, Jennifer MacKenzie, Bruno Maranda, Saadet Mercimek-Andrews, Aizeddin Mhanni, John J. Mitchell, Laura Nagy, Martin Offringa, Amy Pender, Murray Potter, Chitra Prasad, Suzanne Ratko, Ramona Salvarinova, Andreas Schulze, Komudi Siriwardena, Neal Sondheimer, Rebecca Sparkes, Sylvia Stockler-Ipsiroglu, Kendra Tapscott, Yannis Trakadis, Lesley Turner, Clara Van Karnebeek, Anthony Vandersteen, Jagdeep S. Walia, Brenda J. Wilson, Andrea C. Yu, Beth K. Potter, Pranesh Chakraborty
Publikováno v:
BMC Pediatrics, Vol 24, Iss 1, Pp 1-13 (2024)
Abstract Background Generating rigorous evidence to inform care for rare diseases requires reliable, sustainable, and longitudinal measurement of priority outcomes. Having developed a core outcome set for pediatric medium-chain acyl-CoA dehydrogenase
Externí odkaz:
https://doaj.org/article/7eb12ffd1f3f4a9898861100013c4093
Autor:
Ada J. S. Chan, Worrawat Engchuan, Miriam S. Reuter, Zhuozhi Wang, Bhooma Thiruvahindrapuram, Brett Trost, Thomas Nalpathamkalam, Carol Negrijn, Sylvia Lamoureux, Giovanna Pellecchia, Rohan V. Patel, Wilson W. L. Sung, Jeffrey R. MacDonald, Jennifer L. Howe, Jacob Vorstman, Neal Sondheimer, Nicole Takahashi, Judith H. Miles, Evdokia Anagnostou, Kristiina Tammimies, Mehdi Zarrei, Daniele Merico, Dimitri J. Stavropoulos, Ryan K. C. Yuen, Bridget A. Fernandez, Stephen W. Scherer
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-16 (2022)
Morphological subtypes of autism spectrum disorder (ASD) may differ in their genetic bases. Chan et al. develop a method for calculating a patient-level, genome-wide rare variant score and find significant differences in rare and common variant assoc
Externí odkaz:
https://doaj.org/article/daff05382e894c1ca9c8df1af30b6dc7
Autor:
Neal Sondheimer, Alberto Aleman, Jessie Cameron, Hernan Gonorazky, Nesrin Sabha, Paula Oliveira, Kimberly Amburgey, Azizia Wahedi, Dahai Wang, Michael Shy, James J. Dowling.
Publikováno v:
HGG Advances, Vol 4, Iss 2, Pp 100182- (2023)
Summary: Phosphoenolpyruvate carboxykinase (PCK) plays a critical role in cytosolic gluconeogenesis, and defects in PCK1 cause a fasting-aggravated metabolic disease with hypoglycemia and lactic acidosis. However, there are two genes encoding PCK, an
Externí odkaz:
https://doaj.org/article/b48a1204d96b4004b09525521b40b74b
Autor:
Angela Duong, Alesya Evstratova, Adam Sivitilli, J. Javier Hernandez, Jessica Gosio, Azizia Wahedi, Neal Sondheimer, Jeff L. Wrana, Jean-Martin Beaulieu, Liliana Attisano, Ana C. Andreazza
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-16 (2021)
Abstract Mitochondrial health plays a crucial role in human brain development and diseases. However, the evaluation of mitochondrial health in the brain is not incorporated into clinical practice due to ethical and logistical concerns. As a result, t
Externí odkaz:
https://doaj.org/article/07e67ce070a84572b832c40c4b1c99f0
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 7, Pp 1132-1140 (2020)
Abstract Background The first‐line use of specialized metabolic screening laboratories in the investigation of hypotonia and/or developmental delay remains a standard practice despite lack of supporting evidence. Our study aimed to address the util
Externí odkaz:
https://doaj.org/article/dc3fa4b95e3a4c9abf73f408a8a551aa
Autor:
Kylie Tingley, Monica Lamoureux, Michael Pugliese, Michael T. Geraghty, Jonathan B. Kronick, Beth K. Potter, Doug Coyle, Kumanan Wilson, Michael Kowalski, Valerie Austin, Catherine Brunel-Guitton, Daniela Buhas, Alicia K. J. Chan, Sarah Dyack, Annette Feigenbaum, Alette Giezen, Sharan Goobie, Cheryl R. Greenberg, Shailly Jain Ghai, Michal Inbar-Feigenberg, Natalya Karp, Mariya Kozenko, Erica Langley, Matthew Lines, Julian Little, Jennifer MacKenzie, Bruno Maranda, Saadet Mercimek-Andrews, Connie Mohan, Aizeddin Mhanni, Grant Mitchell, John J. Mitchell, Laura Nagy, Melanie Napier, Amy Pender, Murray Potter, Chitra Prasad, Suzanne Ratko, Ramona Salvarinova, Andreas Schulze, Komudi Siriwardena, Neal Sondheimer, Rebecca Sparkes, Sylvia Stockler-Ipsiroglu, Yannis Trakadis, Lesley Turner, Clara Van Karnebeek, Hilary Vallance, Anthony Vandersteen, Jagdeep Walia, Ashley Wilson, Brenda J. Wilson, Andrea C. Yu, Nataliya Yuskiv, Pranesh Chakraborty, on behalf of the Canadian Inherited Metabolic Diseases Research Network
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Abstract Background The Canadian Inherited Metabolic Diseases Research Network (CIMDRN) is a pan-Canadian practice-based research network of 14 Hereditary Metabolic Disease Treatment Centres and over 50 investigators. CIMDRN aims to develop evidence
Externí odkaz:
https://doaj.org/article/4dd97f1f0f9c499290bec8147590f10e
Autor:
Fady Hannah-Shmouni, Lauren MacNeil, Irene Lara-Corrales, Elena Pope, Peter Kannu, Neal Sondheimer
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 21, Iss , Pp - (2019)
Palmoplantar keratoderma (PPK) is a defect in cornification that is characterized by progressive hyperkeratosis of palms and soles. Many phenotypes are linked with PPK, making exome-based diagnosis increasingly efficient. In this report, we identifie
Externí odkaz:
https://doaj.org/article/52761cf367d540048407464b5a5141ca
Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
The higher order organization of eukaryotic and prokaryotic genomes is pivotal in the regulation of gene expression. Specifically, chromatin accessibility in eukaryotes and nucleoid accessibility in bacteria are regulated by a cohort of proteins to a
Externí odkaz:
https://doaj.org/article/430f30d2ce0c45039fa991357e0f1dd4
Autor:
Neal Sondheimer, Stacy Hewson, Jessie M. Cameron, Gino R. Somers, Jane Dunning Broadbent, Marcello Ziosi, Catarina Maria Quinzii, Ali B. Naini
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 23-27 (2017)
Coenzyme Q10 (CoQ10) or ubiquinone is one of the two electron carriers in the mitochondrial respiratory chain which has an essential role in the process of oxidative phosphorylation. Defects in CoQ10 synthesis are usually associated with the impaired
Externí odkaz:
https://doaj.org/article/753e2cc8a6654c369b7d2bc8b9a8c4b8
Publikováno v:
Mitochondrial DNA. Part B. Resources, Vol 5, Iss 3, Pp 2147-2148 (2020)
Cavia aperea is a wild guinea pig found throughout South America. The previously published mitochondrial sequence for C. aperea was highly divergent from the C. porcellus sequence and contained stop codons within open reading frames. Here we resequen
Externí odkaz:
https://doaj.org/article/1079c4864f864c9eb3b2e447e677ccc3