Results 91 to 100 of about 16,315 (293)

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Baseline Regional Cholinergic Denervation Predicts Cognitive Trajectories in Moderate Parkinson Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive decline is a disabling and variable feature of Parkinson disease (PD). While cholinergic system degeneration is linked to cognitive impairments in PD, most prior research reported cross‐sectional associations. We aimed to fill this gap by investigating whether baseline regional cerebral vesicular acetylcholine transporter ...
Taylor Brown, Giulia Carli, Prabesh Kanel, Stiven Roytman, Jaimie Barr, Nicolaas I. Bohnen, Roger L. Albin   +6 more
wiley   +1 more source

Contributo para a história do cooperativismo durante o Estado Novo [PDF]

, 2012
Pretende-se com este trabalho descrever o percurso do cooperativismo nacional durante o período em que vigorou o regime do Estado Novo. Porque o presente é sempre o resultado do passado, também aqui se começa por descrever as condições políticas e ...
Ribeiro, João Paulo Gonçalves
core   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

A cultura popular vianense na política folclorista do estado novo

, 2014
Dissertação de mestrado em Património e Turismo CulturalA Cultura Popular Vianense na política folclorista do Estado Novo, é o tema do presente trabalho que tem como objetivo a pesquisa, estudo e análise da cultura popular vianense, durante o regime do
Teixeira, Maria Isabel da Cunha
core  

Luanda in the Estado Novo - Urban Plans (1941 - 1952)

, 2021
Dissertação de Mestrado Integrado em Arquitetura apresentada à Faculdade de Ciências e TecnologiaDuring the Estado Novo period, between the years 1933 to 1975 Portugal tried to assert itself in the international political scene in different ways.
Fernandes, Maria das Mercês Simões Dias Bobone
core  

Revisitando o “Estado Novo”

Semina - Revista dos Pós-Graduandos em História da UPF
Quando o assunto é o “Estado Novo” e envolve o mundo do trabalho, a tradição historiográfica se pauta, em geral, pelo que Mikhail Bakhtin denominou “hábitos monológicos”. Tudo parece se passar como se fosse possível apagar os sinais que nos levariam a captar vozes destoantes do grande coro da suposta unanimidade nacional orquestrada pelo regime.
openaire   +1 more source

Construindo um novo espaço urbano no Estado Novo:

Faces de Clio, 2019
As empresas cariocas da indústria da construção civil ao longo do Estado Novo (1937-1945) constituem o objeto de estudo deste trabalho. Examinaremos o estágio de desenvolvimento do setor neste período e as principais políticas da gestão do prefeito Henrique Dodsworth para o setor.
openaire   +2 more sources

CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao, Rong Li, Yu‐Xiang Jiao, Kai Ma, Hong‐Qi Yang, Zheng‐Yu Sun, Jie‐Wen Zhang, Shuai Chen   +7 more
wiley   +1 more source