Results 101 to 110 of about 16,040 (295)

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron   +5 more
wiley   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi   +2 more
wiley   +1 more source

Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine the concentration of glial fibrillary acidic protein (GFAP) in cerebrospinal fluid (CSF) and plasma in Alexander disease (AxD) and whether GFAP levels are predictive of disease phenotypes. Methods CSF and plasma were collected (longitudinally when available) from AxD participants and non‐AxD controls.
Amy T. Waldman   +9 more
wiley   +1 more source

Unraveling the Molecular Mechanisms of Glioma Recurrence: A Study Integrating Single‐Cell and Spatial Transcriptomics

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Glioma recurrence severely impacts patient prognosis, with current treatments showing limited efficacy. Traditional methods struggle to analyze recurrence mechanisms due to challenges in assessing tumor heterogeneity, spatial dynamics, and gene networks.
Lei Qiu   +10 more
wiley   +1 more source

POLÍTICA INDUSTRIAL COMO INSTITUIÇÃO DESENVOLVIMENTISTA: UMA CRÍTICA AO "NOVO DESENVOLVIMENTISMO" BASEADA NAS EXPERIÊNCIAS DE BRASIL E COREIA DO SUL

open access: yesRevista de Economia Contemporânea
RESUMO O artigo analisa a política industrial como instituição desenvolvimentista necessária ao desenvolvimento de economias retardatárias, contrastando os casos brasileiro e sul-coreano. Apesar das singularidades das economias analisadas, destaca-se que
Adriano José Pereira, Ricardo Dathein
doaj   +1 more source

Modernizing Russia: Round III. Russia and the other BRIC countries: forging ahead, catching up or falling behind? [PDF]

open access: yes
The term 'BRIC countries' - Brazil, Russia, India, and China - traces its roots to investment banking, Goldman Sachs coined the term in 2001. The idea of large emerging economies catching up with, and challenging, the West has captured social scientists ...
Erik S. Reinert, Rainer Kattel
core  

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda   +12 more
wiley   +1 more source

Rethinking agency: developmentalism, gender and rights [PDF]

open access: yes, 2013
In a new book, LSE’s Sumi Madhok proposes a new theoretical framework for agency thinking by examining the ethical, discursive and practical engagements of a group of women development workers in north-west India with developmentalism and individual ...
Madhok, Sumi, South Asia, LSE
core  

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