Results 241 to 250 of about 224,163 (286)

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco, Mònica Roldán, Yalda Jamshidi, Ioannis Georvasilis, Rocío Jadraque Rodríguez, Reza Boostani, Ali Shoeibi, Lluís Armengol, Anna Codina, Ehsan Ghayoor Karimiani, Cristina Hernando‐Davalillo, Loreto Martorell, María Luisa Ramírez Almaraz, Jordi Muchart, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Daniel Natera‐de Benito, Mercedes Serrano   +18 more
wiley   +1 more source

Social-ecological goals and outcomes of public engagement for recovery of endangered and threatened rockfishes (Sebastes spp.). [PDF]

PLoS One
Beaudreau AH, Lowry D, Blaine J, Selleck J, Pacunski R, Meyer K.   +5 more
europepmc   +1 more source

Exosome Proteomics of SOD1D90A Mutation Suggest Early Disease Mechanisms, and FN1 as a Biomarker

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Amyotrophic lateral sclerosis (ALS) is a neuromuscular disease. Super oxide dismutase 1 (SOD1) gene mutations cause ALS, and the D90A mutation is associated with primarily upper motor neuron (UMN) loss. Objective Our goal is to reveal the early cellular events in ALS pathology and identify potential pharmacokinetic biomarkers, using well ...
Mukesh Gautam, Ali Laith, Aslihan Gunel, Melda Yilmaz, Nazli Basak, Halil Idrisoglu, P. Hande Ozdinler   +6 more
wiley   +1 more source

Predicting fisheries from albatross movements requires accounting for individual variability in interaction. [PDF]

Sci Rep
Le Scornec E, Chimienti M, Corbeau A, Pajot A, Weimerskirch H, Collet J.   +5 more
europepmc   +1 more source

Growth Differentiation Factor 15 Elevation in the Central Nervous System Is Associated With Failure to Thrive in Alexander Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Alexander disease (AxD) is a severe neurodegenerative disorder caused by gain‐of‐function mutations in the gene for GFAP, which lead to protein aggregation and a primary astrocytopathy. Symptoms vary, but failure to thrive (FTT) and frequent emesis are common and cause significant morbidity. Here we investigate GDF15, a member of the
Tracy L. Hagemann, Michelle M. Sonsalla, Cora Luzinski, Fernando Zacahua, David A. Harris, Dudley W. Lamming, Albee Messing   +6 more
wiley   +1 more source

Increasing temperatures counteract the evolutionary consequences of fishing in model of Northeast Arctic Cod (Gadus morhua). [PDF]

Sci Rep
Jessen HH, Opdal AF, Enberg K.
europepmc   +1 more source

A time series of benthic invertebrate bycatch data from demersal longline fisheries targeting <i>Dissostichus eleginoides</i> near the Prince Edward and Marion Islands (2009-2023). [PDF]

Data Brief
Filander ZNP, Somhlaba S, Makhado AB.
europepmc   +1 more source

Advancing fishery dependent and independent habitat assessments using automated image analysis: A fisheries management agency case study. [PDF]

PLoS One
Evans SN, Philippa B, Mattone C, Konzewitsch N, Hovey RK, Sheaves M, Kendrick GA, Bellchambers LM.   +7 more
europepmc   +1 more source

Creative environmental engineering' and the cost of environmental claims: legitimisation of tire artificial reefs by us federal scientists in 1960s-1970s. [PDF]

Hist Philos Life Sci
Porsnovs D.
europepmc   +1 more source