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Angela Letourneau Selected as S.C. Professor of the Year
Winthrop University
Jan 01, 0001
Angela Letourneau, professor/chair of Accounting, Finance and Economics, has been selected the S.C. Professor of the Year. Letourneau plans to retire at the end of the academic year.
Published by: Winthrop University
Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion.
Grace McMacken, Hanns Lochmüller, Boglarka Bansagi, Angela Pyle, Angela Lochmüller, Patrick F Chinnery, Steve Laurie, Sergi Beltran, Leslie Matalonga, Rita Horvath
Feb 09, 2021
BACKGROUND: Behr syndrome is a clinically distinct, but genetically heterogeneous disorder characterized by optic atrophy, progressive spastic paraparesis, and motor neuropathy often associated with ataxia. The molecular...
Whole exome sequencing and the clinician
Daniyal Daud, Helen Griffin, Konstantinos Douroudis, Stephanie Kleinle, Gail Eglon, Angela Pyle, Patrick F Chinnery, Rita Horvath
Mar 07, 2019
Whole exome sequencing (WES) is a recently developed technique in genetics research that attempts to identify causative mutations in complex, undiagnosed genetic conditions. Causative mutations are usually identified after...
Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency.
Veronika Boczonadi, Paul M Smith, Angela Pyle, Aurora Gomez-Duran, Ulrike Schara, Mar Tulinius, Patrick F Chinnery, Rita Horvath
Mar 07, 2019
Childhood-onset mitochondrial encephalomyopathies are severe, relentlessly progressive conditions. However, reversible infantile respiratory chain deficiency (RIRCD), due to a homoplasmic mt-tRNA(Glu) mutation, and reversible...
Respiratory chain deficiency in nonmitochondrial disease.
Angela Pyle, Helen J Nightingale, Helen Griffin, Angela Abicht, Janbernd Kirschner, Ivo Baric, Mario Cuk, Konstantinos Douroudis, Lea Feder, Markus Kratz, Birgit Czermin, Stephanie Kleinle, Mauro Santibanez-Koref, Veronika Karcagi, Elke Holinski-Feder, Patrick F Chinnery, Rita Horvath
Mar 07, 2019
OBJECTIVE: In this study, we report 5 patients with heterogeneous phenotypes and biochemical evidence of respiratory chain (RC) deficiency; however, the molecular diagnosis is not mitochondrial disease. METHODS: The reported...
Project Management and Education
Angela Even
Jan 01, 2024
The importance of project management in education has become increasingly evident in our evolving technology-ridden lives. Educators are required to manage complex projects involving multiple stakeholders, resources, and...
Published by: IGI Global Scientific Publishing
Phenotypic convergence of Menkes and Wilson disease.
Boglarka Bansagi, David Lewis-Smith, Endre Pal, Jennifer Duff, Helen Griffin, Angela Pyle, Juliane S Müller, Gabor Rudas, Zsuzsanna Aranyi, Hanns Lochmüller, Patrick F Chinnery, Rita Horvath
Mar 07, 2019
Menkes disease is an X-linked multisystem disorder with epilepsy, kinky hair, and neurodegeneration caused by mutations in the copper transporter ATP7A. Other ATP7A mutations have been linked to juvenile occipital horn syndrome...
Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.
John P Kemp, Paul M Smith, Angela Pyle, Vivienne CM Neeve, Helen AL Tuppen, Ulrike Schara, Beril Talim, Haluk Topaloglu, Elke Holinski-Feder, Angela Abicht, Birgit Czermin, Hanns Lochmüller, Robert McFarland, Patrick F Chinnery, Zofia MA Chrzanowska-Lightowlers, Robert N Lightowlers, Robert W Taylor, Rita Horvath
Mar 07, 2019
Mutations in several mitochondrial DNA and nuclear genes involved in mitochondrial protein synthesis have recently been reported in combined respiratory chain deficiency, indicating a generalized defect in mitochondrial...
Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT.
Vivienne CM Neeve, Angela Pyle, Veronika Boczonadi, Aurora Gomez-Duran, Helen Griffin, Mauro Santibanez-Koref, Ulrike Gaiser, Peter Bauer, Andreas Tzschach, Patrick F Chinnery, Rita Horvath
Sep 03, 2020
Exome sequencing identified compound heterozygous mutations in the recently discovered mitochondrial methionyl-tRNA formyltransferase (MTFMT) gene in two sisters with mild Leigh syndrome and combined respiratory chain...
Not White Saviors, but Critical Scholars
Angela Novak
Nov 12, 2021
Gifted Black and Brown students are not voiceless; their voices are suffocated under the knee of systemic racism and white supremacy. This chapter proposes that the field of gifted education advocates for needed structural and...
Published by: IGI Global Scientific Publishing
Call to Action
Angela McCaskill
Jul 01, 2021
Low quality healthcare services can hinder economic and social development, result in premature death and disability, and waste human capital. To compound pre-pandemic healthcare access and equity issues, the quality of care...
Published by: IGI Global Scientific Publishing
Exome sequencing in undiagnosed inherited and sporadic ataxias.
Angela Pyle, Tania Smertenko, David Bargiela, Helen Griffin, Jennifer Duff, Marie Appleton, Konstantinos Douroudis, Gerald Pfeffer, Mauro Santibanez-Koref, Gail Eglon, Patrick Yu-Wai-Man, Venkateswaran Ramesh, Rita Horvath, Patrick F Chinnery
Mar 07, 2019
Inherited ataxias are clinically and genetically heterogeneous, and a molecular diagnosis is not possible in most patients. Having excluded common sporadic, inherited and metabolic causes, we used an unbiased whole exome...
A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts.
Anna L Guyatt, Rebecca R Brennan, Kimberley Burrows, Philip AI Guthrie, Raimondo Ascione, Susan M Ring, Tom R Gaunt, Angela Pyle, Heather J Cordell, Debbie A Lawlor, Patrick F Chinnery, Gavin Hudson, Santiago Rodriguez
Mar 19, 2019
BACKGROUND: Mitochondrial DNA copy number (mtDNA CN) exhibits interindividual and intercellular variation, but few genome-wide association studies (GWAS) of directly assayed mtDNA CN exist. We undertook a GWAS of qPCR-assayed...
The Role of Open Access in Enhancing Equitable Curricula and Research Outputs
When educators have difficulty accessing peer-reviewed research, it is inequitable to expect them to compete with educators who have access to a plethora of resources. Inequities have been a historically-identified educational...
Information Resources Management Library and Information Science Information Resources Management Education Government and Law
Published by: IGI Global Scientific Publishing
Letourneau, Blackburn to Receive Recognition at Commencement
Winthrop University
Jan 01, 0001
Angela Letourneau, accounting, finance and economics, is the 2006 Distinguished Professor of the Year. Barbarba Blackburn, curriculum and instruction, is the Outstanding Junior Professor.
Published by: Winthrop University
Bringing PLCs to K-20 Talented Youth
Angela Novak
Nov 24, 2023
This chapter describes professional learning communities, an educator practice, brought to K-20 classrooms as a pivotal practice for talented youth as student learning communities (SLCs). Several research-based models are used...
Instructional Design Education Curriculum Development and Instructional Design Social Sciences and Humanities Library and Information Science
Published by: IGI Global Scientific Publishing
ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency.
Andrea Balreira, Veronika Boczonadi, Emanuele Barca, Angela Pyle, Boglarka Bansagi, Marie Appleton, Claire Graham, Iain P Hargreaves, Vedrana Milic Rasic, Hanns Lochmüller, Helen Griffin, Robert W Taylor, Ali Naini, Patrick F Chinnery, Michio Hirano, Catarina M Quinzii, Rita Horvath
Mar 07, 2019
Inherited ataxias are heterogeneous disorders affecting both children and adults, with over 40 different causative genes, making molecular genetic diagnosis challenging. Although recent advances in next-generation sequencing...
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