Results 11 to 20 of about 91 (87)
Doença de Kennedy: Relato de dois casos Kennedy disease: report of two cases
Arquivos de Neuro-Psiquiatria, 1995 Relatamos, pela primeira vez em nosso meio, dois pacientes com atrofia muscular bulbo espinhal de início tardio (doença de Kennedy), caracterizada por fraqueza, atrofia muscular, tremores e manifestações endocrinológicas, com sinais eletromiográficos de ...
M. Seefeld +4 more
doaj +1 more source
Arquivos de Neuro-Psiquiatria, 2005 X-linked spinal and bulbar muscular atrophy or Kennedy's disease is an adult-onset motor neuronopathy caused by a CAG repeat expansion within the first exon of an androgen receptor gene.
João Aris Kouyoumdjian +2 more
doaj +1 more source
Resenha do livro: Cheniaux E, Cruz T. Fogo & cinzas: as incríveis histórias de bipolares famosos
Debates em PsiquiatriaSumário do livro Prefácio Apresentação Introdução 1. Transtorno bipolar, uma doença grave Introdução 2. Transtorno bipolar, uma doença grave que teria vantagens compensatórias Capítulo 1. Alberto Santos-Dumont Capítulo 2.
Caio Silveira De Caro +5 more
doaj +1 more source
, 2022 Journal of the International AIDS Society, Volume 25, Issue S3, August 2022.
wiley +1 more source
Aging Cell, Volume 18, Issue 3, June 2019., 2019 Abstract Down syndrome (DS) has been proposed by George Martin as a segmental progeroid syndrome since 1978. In fact, DS persons suffer from several age‐associated disorders much earlier than euploid persons. Furthermore, a series of recent studies have found that DS persons display elevated levels of age biomarkers, thus supporting the notion that DS ...
Claudio Franceschi +5 more
wiley +1 more source
CARACTERÍSTICA EPIDEMIOLÓGICA, DO LINFOMA DE HODGKIN NO BRASIL: INCIDÊNCIA E DISTRIBUIÇÃO GEOGRÁFICA
Hematology, Transfusion and Cell TherapyIntrodução: Segundo a Organização Mundial de Saúde (OMS), o Linfoma de Hodgkin (LH), também denominado de Doença de Hodgkin, é subdividido em 2 categorias, baseadas na morfologia e no imunofenótipo: I - LH Clássico (HLc) compreende 90% dos LH e seus ...
GG Paula +9 more
doaj +1 more source
The 4th Global Congress on Sickle Cell Disease Abstract Book 2022
, 2022 HemaSphere, Volume 6, Issue S4, Page 1-64, August 2022.
wiley +1 more source
European Journal of Neurology, Volume 33, Issue 3, March 2026.ABSTRACT Background There is an unmet need for the clinically relevant ALS biomarkers to facilitate an accurate diagnosis in suspected cases, monitor disease progression and evaluate response to therapy in clinical trials. While the MND/ALS literature is dominated by innovative brain studies, motor disability in ALS is primarily driven by neurogenic ...
Alison Toomey +4 more
wiley +1 more source
CDG due to Defective Membrane Transporters: Update
Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.ABSTRACT Congenital disorders of glycosylation are genetic defects in the glycoprotein and glycolipid glycan assembly and attachment. Some 200 CDG have been reported since the first clinical description in 1980. Most CDG are enzymatic deficiencies, but 13 (6.5%) are defects in the ER, Golgi apparatus (GA), and plasma membrane transporters.
D. Quelhas, C. R. Ferreira, J. Jaeken
wiley +1 more source
Brain and Behavior, Volume 15, Issue 11, November 2025.This graphical abstract summarizes the main findings of our systematic review about the global impacts of COVID‐19 control measures on people with dementia living at home and their carers : they were broadly consistent across regions. Our evidence synthesis highlights the critical need for decision‐makers to account for the needs of PWD and their ...
Yaohua Chen +12 more
wiley +1 more source