Results 221 to 230 of about 1,955,095 (348)

Modulation of the Stress Granule Component Carhsp1 Mitigates Disease‐Associated Deficits in Spinocerebellar Ataxia Type 3 Mouse Models

Movement Disorders, EarlyView.
Abstract Background Spinocerebellar ataxia type 3 (SCA3) is a polyglutamine (polyQ) neurogenerative disorder that results from CAG trinucleotide repeat expansions in the ATXN3 gene, leading to toxic protein aggregate formation and cellular pathway dysfunction.
Tiago Moreira‐Gomes, Adriana Marcelo, Ana Teresa Rajado, Rafael G. Costa, Ricardo Afonso‐Reis, Cristiana R. Madeira, Inês T. Afonso, David V.C. Brito, Adriana A. Vaz, Clévio Nóbrega   +9 more
wiley   +1 more source

[XI Update Conference in Emergency and Urgent Care Medicine and the 7th Ultrasound Conference of semFYC. Two conferences, one destination of discovery]. [PDF]

Aten Primaria
Mesa Rodríguez P, Mateos Gómez A.
europepmc   +1 more source

The Global Parkinson's Disease Genetics (GP2) Genome Browser

Movement Disorders, EarlyView.
Abstract Background Large‐scale sequencing initiatives have generated extensive genomic resources essential for variant interpretation, yet their effective use often requires bioinformatics expertise. To support identification of Parkinson's disease (PD) risk and disease‐causing variants, we developed an open‐access, summary‐level genomic data browser.
Zih‐Hua Fang, Riley H. Grant, Dan Vitale, Carlos F. Hernandez, Samantha Hong, Hampton L. Leonard, Mary B. Makarious, Lara M. Lange, Matthew Solomonson, Peter Heutink, Allison A. Dilliott, Kamalini Ghosh Galvelis, Mike A. Nalls, Andrew B. Singleton, Cornelis Blauwendraat, the Global Parkinson's Genetics Program (GP2)   +15 more
wiley   +1 more source

Medicina syringe breakage [PDF]

Anaesthesia, 2015
C, Woo, D, de Beer, P, Evans
openaire   +2 more sources

Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by variants in the CYP27A1 gene, resulting in cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is common but often under‐recognized in CTX.
Antonio Edvan Camelo‐Filho, Pedro Lucas G. S. B. Lima, Tito B. S. Soares, Rodrigo Fagundes da Rosa, Luis Edmundo T. A. Furtado, Ana Lucila Moreira, André L. S. Pessoa, Paulo R. Nóbrega, Pedro Braga‐Neto   +8 more
wiley   +1 more source

Implementation of an interdisciplinary research model at a tertiary University Hospital in São Paulo, Brazil: post-COVID-19 cohort study. [PDF]

Clinics (Sao Paulo)
Azevedo LSM, do Rio Caldeira MP, Nunes MVR, Villar CMLD, Ramalho DL, Yokoyama TS, Rizzi de Oliveira P, Mauad T, Forlenza OV, Battistella LR, Burdmann EA, Couto MT, Carvalho CRR.   +12 more
europepmc   +1 more source

Utility of Far‐Field Potentials as a Biomarker of Neurodegeneration in Spinal Muscular Atrophy

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Far field potentials (FFP) have been proposed as a reliable neurophysiological prognostic biomarker in amyotrophic lateral sclerosis (ALS). This study evaluated the utility of ulnar nerve FFP as a robust research biomarker of lower motor neuron degeneration in spinal muscular atrophy (SMA).
Aicee Dawn Calma, Nathan Pavey, Cláudia Santos Silva, Yukiko Tsuji, Amirul Ab Ghapar, Katrina Morris, Matthew C. Kiernan, Michelle A. Farrar, Parvathi Menon, Steve Vucic   +9 more
wiley   +1 more source

Correction: Does the use of continuous positive airway pressure devices pose a risk of microplastic exposure to the upper airway? A pilot study. [PDF]

J Clin Sleep Med
Mauad T, Carvalho-Oliveira R, Faria CS, Fahl K, Antonangelo L, Cahali MB.   +5 more
europepmc   +1 more source

Medicina

, 2012
Apunts mecanoscrits sobre història de la ...
openaire   +1 more source

Development and validation of a nutrition risk screening for patients with childhood cancer in Brazil (NUTRICCAN)

Nutrition in Clinical Practice, EarlyView.
Abstract Background Diagnosing malnutrition in patients with pediatric cancer is challenging because tumor masses can interfere with anthropometric measurements. STRONGkids considers cancer a general risk factor, whereas Screening Tool for Childhood Cancer (SCAN) classifies patients as at risk or not, potentially missing those who need nutrition ...
Cristiane Ferreira Marçon, Carolina Araújo dos Santos, Fernanda Luisa Ceragioli Oliveira   +2 more
wiley   +1 more source