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Results: 157
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...
Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.
Veronika Boczonadi, Martin S King, Anthony C Smith, Monika Olahova, Boglarka Bansagi, Andreas Roos, Filmon Eyassu, Christoph Borchers, Venkateswaran Ramesh, Hanns Lochmüller, Tuomo Polvikoski, Roger G Whittaker, Angela Pyle, Helen Griffin, Robert W Taylor, Patrick F Chinnery, Alan J Robinson, Edmund RS Kunji, Rita Horvath
Feb 06, 2018
PURPOSE: To understand the role of the mitochondrial oxodicarboxylate carrier (SLC25A21) in the development of spinal muscular atrophy-like disease. METHODS: We identified a novel pathogenic variant in a patient by whole-exome...
metabolite transport Metabolomics mitochondrial respiratory chain deficiency neural toxicity spinal motor atrophy Adipates Apoptosis Cell Line DNA Mitochondrial Dicarboxylic Acid Transporters FIBROBLASTS Homozygote Humans Mitochondria Mitochondrial Membrane Transport Proteins Motor Neurons Muscular Atrophy Spinal Mutation Pipecolic Acids Quinolinic Acid
Genetic heterogeneity of motor neuropathies.
Boglarka Bansagi, Helen Griffin, Roger G Whittaker, Thalia Antoniadi, Teresinha Evangelista, James Miller, Mark Greenslade, Natalie Forester, Jennifer Duff, Anna Bradshaw, Stephanie Kleinle, Veronika Boczonadi, Hannah Steele, Venkateswaran Ramesh, Edit Franko, Angela Pyle, Hanns Lochmüller, Patrick F Chinnery, Rita Horvath
Oct 29, 2019
OBJECTIVE: To study the prevalence, molecular cause, and clinical presentation of hereditary motor neuropathies in a large cohort of patients from the North of England. METHODS: Detailed neurologic and electrophysiologic...
Adolescent Adult Aged Analysis of Variance Charcot-Marie-Tooth disease Cohort Studies connexins DNA Mutational Analysis Electromyography England Family Health Female GTP Phosphohydrolases Genetic Heterogeneity Hereditary Sensory and Motor Neuropathy Humans Male Middle Aged Mitochondrial Proteins Mutation Myelin Proteins Neural Conduction Young Adult
Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood.
Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease.
Veronika Boczonadi, Martin King, Anthony Colin Smith, Monika Olahova, Boglarka Bansagi, Andreas Roos, Filmon Eyassu, Christoph Borchers, Venkateswaran Ramesh, Hanns Lochmüller, Tuomo Polvikoski, Roger G Whittaker, Angela Pyle, Helen Griffin, Robert W Taylor, Patrick Francis Chinnery, Alan Jonathan Robinson, Edmund Richard Kunji, Rita Horvath
Feb 06, 2018
PURPOSE: Members of the mitochondrial carrier family (SLC25) transport metabolites, nucleotides, co-factors and inorganic ions across the mitochondrial inner membrane. Methods: We identified a pathogenic variant in a novel...
Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene.
Angela Pyle, Venkateswaran Ramesh, Marina Bartsakoulia, Veronika Boczonadi, Aurora Gomez-Duran, Agnes Herczegfalvi, Emma L Blakely, Tania Smertenko, Jennifer Duff, Gail Eglon, David Moore, Patrick Yu-Wai-Man, Konstantinos Douroudis, Mauro Santibanez-Koref, Helen Griffin, Hanns Lochmüller, Veronika Karcagi, Robert W Taylor, Patrick F Chinnery, Rita Horvath
Mar 07, 2019
BACKGROUND: Behr's syndrome is a classical phenotypic description of childhood-onset optic atrophy combined with various neurological symptoms, including ophthalmoparesis, nystagmus, spastic paraparesis, ataxia, peripheral...
Patient experience of supported computerized CBT in an inner-city IAPT service
Computerized cognitive behavioural therapy (cCBT) has been developed to address economic and clinical issues around limited access to evidence-based therapy. Supported cCBT (variously termed iCBT or eCBT) has been developed...
Sustainability Through Total Factor Productivity Growth in Agriculture Incorporating Institutional Factors
Ramesh Das
Jan 01, 2023
With the increasing population pressure and food insecurity problem in India, and the problem of unsustainable social and economic systems, it was inevitable to shift away the focus of agricultural activities from the...
Published by: IGI Global Scientific Publishing
Patient experience of supported computerized CBT in an inner-city IAPT service
Computerized cognitive behavioural therapy (cCBT) has been developed to address economic and clinical issues around limited access to evidence-based therapy. Supported cCBT (variously termed iCBT or eCBT) has been developed...
A Novel GUI-Based Image Reconstruction Algorithm of EIT Imaging Technique
Electrical impedance tomography (EIT) is a non-invasive technique that is used to estimate the electrical properties of a medical or non-medical object through the boundary data of the object. It used to achieve functional...
Published by: IGI Global Scientific Publishing
Long Run and Short Run Linkages Between Credit and Output
An appropriate link between the financial sector and real sector is required to have a balanced growth and development of a country as well as its regional levels particularly for the countries whose financial developments are...
Published by: IGI Global Scientific Publishing
Unraveling the antisolvent dripping delay effect on the Stranski-Krastanov growth of CH3NH3PbBr3 thin films
Jitendra Kumar, Ramesh Kumar, Kyle Frohna, Dhanashree Moghe, Samuel D Stranks, Monojit Bag
Oct 06, 2021
Inorganic-organic hybrid perovskite materials have been a topic of interest for the last few years due to their superior optoelectronic properties. However, the optical properties of perovskite materials are strongly dependent...
G-protein α-subunit (GPA1) regulates stress, nitrate and phosphate response, flavonoid biosynthesis, fruit/seed development and substantially shares GCR1 regulation in A. <i>thaliana</i>
Navjyoti Chakraborty, Priyanka Sharma, Kostya Kanyuka, Ravi Ramesh Pathak, Devapriya Choudhury, Richard Hooley, Nandula Raghuram
Dec 01, 2015
Heterotrimeric G-proteins are implicated in several plant processes, but the mechanisms of signal-response coupling and the roles of G-protein coupled receptors in general and GCR1 in particular, remain poorly understood. We...
Role of AYUSH Therapies in Modern Medicine
Ashutosh Ojha, Utkarsh Ojha, Harsh Ojha, Abhinaya Chandrashekar, Raihan Mohammed, Rudra Trivedi, Sharvari Ugaonkar, Manan Desai, Ramesh Sreevidya, Pratiksha Sahu
Mar 10, 2020
OBJECTIVE: To understand doctors' attitude to and awareness of AYUSH therapies for the treatment of diabetes mellitus (DM). METHODS: This qualitative study, using a usage-and-attitude survey, was conducted in secondary centers...
Polymer Microarrays for the Discovery and Optimization of Robust Optical-Fiber-Based pH Sensors
Jingjing Gong, Seshasailam Venkateswaran, Michael G. Tanner, James M. Stone, Mark Bradley
May 13, 2019
Polymer microarrays were utilized for the high-throughput screening and discovery of optimal polymeric substrates capable of trapping functional ratiometric fluorescence-based pH sensors. This led to the identification of...
G-protein α-subunit (GPA1) regulates stress, nitrate and phosphate response, flavonoid biosynthesis, fruit/seed development and substantially shares GCR1 regulation in A. <i>thaliana</i>
Navjyoti Chakraborty, Priyanka Sharma, Kostya Kanyuka, Ravi Ramesh Pathak, Devapriya Choudhury, Richard Hooley, Nandula Raghuram
Dec 01, 2015
Heterotrimeric G-proteins are implicated in several plant processes, but the mechanisms of signal-response coupling and the roles of G-protein coupled receptors in general and GCR1 in particular, remain poorly understood. We...
State of the Art and Gap Analysis of Precision Agriculture
Precision Agriculture (PA) is now becoming the base for rapid development of a nation. So many technologies are used in precision agriculture such as Global Positioning System (GPS), Artificial Intelligence (AI), Sensor Network...
Published by: IGI Global Scientific Publishing
An Analysis for the Use of Simulation Modeling in Reducing Patient Waiting Time in Emergency Departments (EDs) in Hospitals
The emergency department (ED) plays crucial role in providing 24-hour healthcare services to the ill with speed, accuracy, and sympathy. ED faces the problem of patient waiting time, which leads to patient dissatisfaction and...
Published by: IGI Global Scientific Publishing
Pre-operative oral nutritional supplementation with dietary advice versus dietary advice alone in weight-losing patients with colorectal cancer
Sorrel T Burden, Debra J Gibson, Simon Lal, James Hill, Mark Pilling, Mattias Soop, Aswatha Ramesh, Chris Todd
May 30, 2018
BACKGROUND: Pre-operative weight loss has been consistently associated with increased post-operative morbidity. The study aims to determine if pre-operative oral nutritional supplements (ONSs) with dietary advice reduce...
Secure and Dynamic Multi-Keyword Ranked Search
Nowadays, information storing in third party storage is increased. Outsourcing the data to other storage device or servers which may questioned to the secure environment. However, sensitive data like medical information should...
Published by: IGI Global Scientific Publishing
An Innovative Approach to Solve Healthcare Issues Using Big Data Image Analytics
The increasing adoption of transmission of medical images through internet in healthcare has led to several security threats to patient medical information. Permitting quiet data to be in peril may prompt hopeless harm...
Published by: IGI Global Scientific Publishing
Polymer Microarrays for the Discovery and Optimization of Robust Optical-Fiber-Based pH Sensors
Jingjing Gong, Seshasailam Venkateswaran, Michael G. Tanner, James M. Stone, Mark Bradley
May 13, 2019
Polymer microarrays were utilized for the high-throughput screening and discovery of optimal polymeric substrates capable of trapping functional ratiometric fluorescence-based pH sensors. This led to the identification of...
Population-level management of Type 1 diabetes via continuous glucose monitoring and algorithm-enabled patient prioritization
Johannes Ferstad, Jacqueline Vallon, Daniel Jun, Angela Gu, Anastasiya Vitko, Dianelys Morales, Jeannine Leverenz, Ming Yeh Lee, Brianna Leverenz, Christos Vasilakis, Esli Osmanlliu, Priya Prahalad, David Maahs, Ramesh Johari, David Scheinker
Nov 30, 2021
Objective: To develop and scale algorithm-enabled patient prioritization to improve population-level management of type 1 diabetes (T1D) in a pediatric clinic with fixed resources, using telemedicine and remote monitoring of...
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