Results 51 to 60 of about 39,341 (217)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Liberdade e lei no neo-republicanismo de Skinner e Pettit Liberty and law in Skinner and Pettit's neo-republicanism

Lua Nova: Revista de Cultura e Política, 2008
O artigo objetiva analisar as intervenções de Quentin Skinner e de Philip Pettit nas disputas atuais sobre o significado do conceito de liberdade. Argumenta-se que, malgrado diferenças de método e estilo entre os autores, ambos convergem para a defesa de
Ricardo Silva
doaj   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Um diálogo entre um cristão ortodoxo e um behaviorista radical

Psicologia: Ciência e Profissão
Este artigo discute a religião através de um diálogo entre dois sujeitos fictícios: Tommaso, um behaviorista radical e defensor da idéia skinneriana de que a religião não se diferencia de outras formas de controle, e Gottlieb, um cristão ortodoxo e ...
Tyffanne Serra Paraná Rodrigues, Alexandre Dittrich   +1 more
doaj  

Sobrevivência ou colapso? B. F. Skinner, J. M. Diamond e o destino das culturas Survival or collapse? B. F. Skinner, J. M. Diamond and the fate of cultures

Psicologia: Reflexão e Crítica, 2008
Um dos aspectos mais interessantes e polêmicos da obra de B. F. Skinner é sua interpretação sobre a evolução das culturas. De acordo com o autor, as conseqüências de práticas culturais retroagem sobre as culturas, no sentido de aumentar ou diminuir suas ...
Alexandre Dittrich
doaj   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Notas sobre o Behaviorismo de ontem e de hoje Remarks on former and current Behaviorism

Psicologia: Reflexão e Crítica, 2011
Este artigo busca oferecer algumas referências históricas sobre as origens e desenvolvimentos da Psicologia behaviorista. O artigo parte das contribuições de Watson, destacando seu afastamento do modo causal selecionista, inaugurado na Psicologia por ...
Emmanuel Zagury Tourinho
doaj   +1 more source

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 more
wiley   +1 more source

Ideas políticas e historia intelectual

Prismas, 1999
A propósito de Quentin Skinner, Reason and Rhetoric in the Philosophy of Hobbes, Cambridge, Cambridge University Press, 1996, 437 páginas, y Quentin Skinner, Liberty before Liberalism, Cambridge, Cambridge University Press, 1998, 142 páginas.
Elías José Palti
doaj