Results 181 to 190 of about 451,686 (317)

Scientific report of EFSA prepared by the GMO Unit on Public Consultation on the Updated Guidance Document of the Scientific Panel on Genetically Modified Organisms (GMO) for the risk assessment of genetically modified plants and derived food and feed

, 2009

openalex   +1 more source

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach, Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li, Katherine Chao, Tanya J. Lehky, Abigail Potticary, Tracey A. Rouault, Sandra Donkervoort, Carsten G. Bönnemann   +11 more
wiley   +1 more source

A Systematic Clinical Framework for Postimplantation Monitoring in Thalamic Neuromodulation: Insights From Twiddler's Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This case described a 25‐year‐old pregnant woman with refractory multifocal epilepsy, diagnosed in 2020 and treated with bilateral thalamic deep brain stimulation (DBS) targeting the centromedian and pulvinar nuclei. Prior to DBS, she experienced daily focal seizures, often progressing to generalized tonic–clonic seizures despite optimal ...
Shalin Shah, Ganne Chaitanya, Jeston Chin, Nicholas Delcimmuto, Jay R. Gavvala   +4 more
wiley   +1 more source

Fixel‐Based Analysis of Diffusion Imaging as a Quantitative Marker of Disease State in Spinocerebellar Ataxia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxias (SCAs) are a group of genetically heterogeneous neurodegenerative diseases causing progressive deterioration and reduced quality of life. Therapeutic advances have been limited by a lack of sensitive anatomic, functional, or diffusion imaging‐based biomarkers.
David J. Arpin, S. H. Subramony, the READISCA Consortium, David E. Vaillancourt, Tetsuo Ashizawa, Alexandra Durr, Thomas Mareci, Thomas Klockgether, Jennifer Faber, Henry L. Paulson, Gülin Öz, Matthew R. Burns   +11 more
wiley   +1 more source

Detection of genetically modified plants in the agricultural products

, 2020
A. V. Plotnitska, Т. А. Ткаченко, L. I. Kalakailo, V. ISCHENKO, V. V. Tkachenko, Ya. A. Ishchenko, В. Ushkalov, L. Ischenko   +7 more
openalex   +2 more sources

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó, Igor Stevanovski, Germán Morís, Roger Collet‐Vidiella, Alba Segarra‐Casas, Lidia González‐Quereda, Benjamín Rodríguez‐Santiago, Pia Gallano, Rodrigo Alvarez, Ana Vesperinas, Rosa Blanco, Beatriz San‐Millán, Carmen Navarro, Isabel Illa, Gianina Ravenscroft, Ira W. Deveson, Eduard Gallardo, Montse Olivé   +17 more
wiley   +1 more source

Safety assessment of genetically modified plants with deliberately altered composition. [PDF]

Plant Biotechnol J, 2014
Halford NG, Hudson E, Gimson A, Weightman R, Shewry PR, Tompkins S.   +5 more
europepmc   +1 more source

Outcome of the public consultation on the draft Scientific Opinion of the Scientific Panel on Genetically Modified Organisms (GMO) on the assessment of allergenicity of GM plants and microorganisms and derived food and feed

, 2010

openalex   +1 more source

Efgartigimod Combined With Steroid Treatment for HAM/TSP: A Case Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT HTLV‐1‐associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a progressive neurological disorder with limited treatment options. We report a 54‐year‐old female with decade‐long, progressive HAM/TSP, previously refractory to rituximab, who experienced worsening spastic paraparesis and neurogenic bladder dysfunction.
Jiahui Zeng, Wotu Tian, Jingran Yang, Yanping Yang, Li Cao, Xinghua Luan   +5 more
wiley   +1 more source

Genetically modified plants and environmental safety: a critical analysis [PDF]

Planta Daninha, 2014
R.A. Pitelli
doaj