Results 11 to 20 of about 21,021 (177)

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

Drivers of tail evolution in squamates and their implications for the fossorial origin of snakes

The Anatomical Record, EarlyView.
Abstract The axial skeleton serves as the primary structural support in all vertebrates and is subdivided into five distinct regions: cervical, thoracic, lumbar, sacral, and caudal. Relaxation of constraints acting on the terminal end of the axial skeleton has led to remarkable variation in caudal vertebrae number across Squamata.
Olivia Binfield, Marco Camaiti, Lucy Roberts   +2 more
wiley   +1 more source

Visibility Is Also a Form of Scientific Inequality

The Bulletin of the Ecological Society of America, EarlyView.
Abstract Recognition in science signals authority and helps determine which knowledge informs research agendas, funding decisions, and career trajectories. However, media coverage of awards often amplifies senior male scientists while marginalizing early‐career and female researchers, even when they receive the same distinctions.
Luisa Maria Diele‐Viegas
wiley   +1 more source

Practicing Strategic Financial Sustainability in Small Cultural Non‐Profits: Evidence From London Museums

Business Strategy and the Environment, EarlyView.
ABSTRACT Small cultural museums play an important role in sustaining local heritage, community identity and inclusive cultural participation, yet they face persistent financial and organisational constraints. This study examines how financial sustainability is achieved and maintained in three small cultural museums through a qualitative‐led mixed ...
Joseph Gerald Bourke, Albert Amanollahnejad, Javad Izadi, Dinusha Weerawardane   +3 more
wiley   +1 more source

Ler = apagar

Revista Nava, 2019
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openaire   +2 more sources

MDSGene Systematic Review of Common Forms of Dominant Hereditary Spastic Paraplegia: Novel Insights

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder characterized by progressive spasticity and lower limb weakness. The most common forms of autosomal dominant HSP are caused by pathogenic variants in SPAST (SPG4 or HSP‐SPAST), ATL1 (SPG3A or HSP‐ATL1), and REEP1 (SPG31 or HSP‐REEP1).
Ce Kang, Rajasumi Rajalingam, Zachary Walls, Jana Huang, Christine Sun, Laura I. Rudaks, Dennis Yeow, Ashar Rasheed, Jenny W. Zhang, Moath Hamed, Marianthi Breza, Susen Schaake, Chetan Vekhande, Jason Massa, Robyn E. Massa, Aakash Shetty, Carolyn M. Sue, Franca Cambi, Oksana Suchowersky, Franca Vulinovic, Sonja Petkovic, Christine Klein, Katja Lohmann, Connie Marras, Kishore R. Kumar   +24 more
wiley   +1 more source

Rethinking Public Administration Reform: Institutional Layering of Bureaucratic, Managerial and Community Logics Over Time in Nigeria's Tax Administration

Public Administration and Development, EarlyView.
ABSTRACT The reform of public institutions has attracted sustained attention in both scholarship and policymaking. Increasingly, however, there is growing recognition that reforms are rarely implemented in an institutional vacuum. Instead, new reforms are layered onto existing arrangements, producing hybrid institutional landscapes shaped by prior ...
Edidiong Bassey
wiley   +1 more source

Plant species are more important to bacterial community composition than seeding ratio in a pea‐canola intercropping system

PLANTS, PEOPLE, PLANET, EarlyView.
Demand for agricultural land has increased due to rising demand for food, potentially leading to expansion into previously untouched habitats, which threatens refugia of native plants. We aimed to provide insight into how variation in seeding ratio may impact soil bacterial communities in a pea‐canola intercropping system, potentially altering crop ...
Janice M. Parks, Braeden J. Stiffler, Maren L. Friesen   +2 more
wiley   +1 more source

Ler Aristófanes?

Revista do Museu de Arqueologia e Etnologia, 2004
O objetivo deste estudo é discutir, à luz da Poética de Aristóteles e de estudos de semiologia teatral, a possibilidade de leitura da comédia antiga do mesmo modo como se lê a tragédia. A questão colocada é: será que a comédia de Aristófanes pode, como a tragédia, atingir seu fim apenas com a leitura?
Daisi Malhadas, Maria Celeste Consolin Dezotti   +1 more
openaire   +3 more sources

Polarity‐engineered Sn‐Ti cluster photoresists for sub‐10‐nm high‐resolution lithography

Smart Molecules, EarlyView.
Enhancing the polarity of clusters can optimize their patterning performance; inspired by this strategy, we designed polarity‐enhanced Sn‐Ti oxo clusters via ligand engineering. The optimal TS‐3 with exposure‐induced polarity switch achieves 8 nm patterning in lithography and achieves simultaneous improvement in resolution and patterning performance ...
Daohan Wang, Runfeng Xu, Min Zhang, Xiaofeng Gong, Wenzheng Li, Danhong Zhou, Jun Zhao, Huie Zhu, Zhan Lu, Pengzhong Chen, Xiaojun Peng   +10 more
wiley   +1 more source