Results 41 to 50 of about 15,436 (252)

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

Improved Detection of Myositis‐Specific Autoantibodies Using Luciferase Immunoprecipitation Systems Assay: Comparison With Line Blot and Conventional Immunoprecipitation

Arthritis &Rheumatology, EarlyView.
Objective Myositis‐specific autoantibodies guide the diagnosis and classification of idiopathic inflammatory myopathies, but current immunoassays vary in accuracy, particularly for autoantibodies associated with interstitial lung disease. To compare the performance of the luciferase immunoprecipitation systems (LIPS) assay with line blot and ...
Peter D. Burbelo, Iago Pinal‐Fernandez, Maria Casal‐Dominguez, Xin Tian, Shijinqiu Gao, Neha Gupta, Eric W. Robbins, John A. Chiorini, Christopher A. Mecoli, Lisa Christopher‐Stine, Livia Casciola‐Rosen, Andrew L. Mammen, Sonye K. Danoff, Anthony F. Suffredini, Julio A. Huapaya   +14 more
wiley   +1 more source

Application of PRECEDE-PROCEED Planning Model in Transforming the Clinical Decision Making Behavior of Physical Therapists in Myanmar

Frontiers in Public Health, 2019
Introduction: Physical therapists in Myanmar use a prescriptive model of Clinical Decision Making (CDM). Improving CDM effectiveness is one essential factor in professionalizing practice and enhancing patient outcomes.
Phyu Hnin Hlaing, Phyu Hnin Hlaing, Patricia E. Sullivan, Pakaratee Chaiyawat   +3 more
doaj   +1 more source

Past and Future of Sustainability Indicator Research in Agribusiness: A Bibliometric and Forecasting Analysis

Business Strategy and the Environment, EarlyView.
ABSTRACT This study offers a forward‐looking assessment of sustainability indicator research in agribusiness by integrating bibliometric mapping with ARIMA‐based forecasting. Analysing 403 Scopus‐indexed articles, bibliographic‐coupling analysis identifies three contemporary thematic domains: Techno‐Managerial Sustainability, Systemic and ...
Marcelo Kratz Mendes, Olga Cam, Aurora Carneiro Zen, Roger de Bem Jaeger, Daniela Callegaro‐de‐Menezes, Juliana Matos de Meira   +5 more
wiley   +1 more source

Can Carbon Strategy Enhance Corporate Productivity? Evidence From Carbon Risk and Opportunity Management

Business Strategy and the Environment, EarlyView.
ABSTRACT Whether corporate carbon management can enhance productive efficiency is central to firms' long‐term competitiveness and determines whether carbon reduction efforts can be sustained beyond regulatory compliance. This study examines how corporate carbon risk and opportunity management affects firm productivity (measured by total factor ...
Nan Huang, Hanlu Fan, Ruoxin Zhu
wiley   +1 more source

Policy and Market Mechanisms for Sustainable Finance: A Systematic Review and Research Agenda

Business Strategy and the Environment, EarlyView.
ABSTRACT Sustainable finance has emerged as a critical instrument for addressing the dual challenges of climate change and sustainable development. Nonetheless, a substantial financing gap persists, while the concept remains under‐theorized without a universally accepted definition, and empirical evidence of its effectiveness remains inconsistent and ...
Jihyung Joo, Byounguk Keum, Taewoo Roh
wiley   +1 more source

Addressing the need for a clean development mechanism (CDM) specific project management strategy

South African Journal of Economic and Management Sciences, 2011
Clean Development Mechanism (CDM) projects have additional technical, financial and regulatory requirements that are not fully addressed by classic project management approaches.
Marco Lotz, Alan Brent, Herman Steyn
doaj   +1 more source

Decreased coherent motion discrimination in autism spectrum disorder: the role of attentional zoom-out deficit. [PDF]

PLoS ONE, 2012
Autism spectrum disorder (ASD) has been associated with decreased coherent dot motion (CDM) performance, a task that measures magnocellular sensitivity as well as fronto-parietal attentional integration processing. In order to clarify the role of spatial
Luca Ronconi, Simone Gori, Milena Ruffino, Sandro Franceschini, Barbara Urbani, Massimo Molteni, Andrea Facoetti   +6 more
doaj   +1 more source

Status and future of recombinant adeno‐associated virus vector manufacturing

Biotechnology Progress, EarlyView.
Abstract Sixty years of adeno‐associated virus (AAV) research illustrates a trajectory marked by basic science exploration, iterative innovation, persistent challenges, a number of clinical setbacks, as well as commercial therapeutic triumphs. This continual evolution has led to recombinant AAV (rAAV) becoming a cornerstone of modern gene therapy ...
Frank Agbogbo, David Dismuke
wiley   +1 more source

Clinical Decision Making and Outcome in Routine Care for People with Severe Mental Illness (CEDAR): Study protocol

BMC Psychiatry, 2010
Background A considerable amount of research has been conducted on clinical decision making (CDM) in short-term physical conditions. However, there is a lack of knowledge on CDM and its outcome in long-term illnesses, especially in care for people with ...
Nemes Zoltan, Égerházi Anikó, Larsen Jens, Munk-Jørgensen Povl, Fiorillo Andrea, Maj Mario, Kaliniecka Helena, Slade Mike, Steffen Sabine, Puschner Bernd, Rössler Wulf, Kawohl Wolfram, Becker Thomas   +12 more
doaj   +1 more source