Results 221 to 230 of about 3,690,639 (348)

Maternal mortality in Goiás: Causes of maternal death and barriers to underreporting. [PDF]

PLOS Glob Public Health
de Melo ENN, de Morais Neto OL, Nogales Vasconcelos AM.   +2 more
europepmc   +1 more source

Lep-MAP3: robust linkage mapping even for low-coverage whole genome sequencing data

Bioinform., 2017
P. Rastas
semanticscholar   +1 more source

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

Genetic diversity and population structure of the natural population of Helicoverpa armigera in Northwest China using Genotyping by Sequencing (GBS) technology. [PDF]

PLoS One
Ning Z, He J, Dong J, Li W, Li R, Gao Z, Wang D, Li H, Liu B, Wang Y, Lu W.   +10 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

Interleukin‐6 as a Key Biomarker in Facioscapulohumeral Dystrophy: Evidence From Longitudinal Analyses

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive neuromuscular disorder with no approved treatments. Identifying reliable biomarkers is critical to monitor disease severity, activity, and progression. Interleukin‐6 (IL‐6) has been proposed as a candidate biomarker, but longitudinal validation is limited ...
Jonathan Pini, Emanuela Martinuzzi, Sandra Dhifallah, Abderhmane Slioui, Angela Puma, Luisa Villa, Michele Cavalli, Andra Ezaru, Jérémy Garcia, Manuela Gambella, Federico Torre, Luca Jacopo Pavan, Nicolas Glaichenhaus, Sabrina Sacconi   +13 more
wiley   +1 more source

Effective Population Size Estimation in Large Marine Populations: Considering Current Challenges and Opportunities When Simulating Large Data Sets With High-Density Genomic Information. [PDF]

Evol Appl
Delord C, Arnaud-Haond S, Leone A, Noskova E, Tournebize R, Jacques P, Marsac F, Nikolic N.   +7 more
europepmc   +1 more source

Cytonuclear linkage disequilibrium between <i>A. icterica</i> mitochondrial lineages and microsatellite alleles, estimated using CNDm software (Basten & Asmussen 1997).

, 2015
Torres-Leguizamon Magally, Jérôme Mathieu, D Thibaud, Lise Dupont   +3 more
openalex   +2 more sources

CSF Levels of NPTX2 Are Associated With Less Brain Atrophy Over Time in Cognitively Unimpaired Individuals

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Neuronal pentraxin 2 (NPTX2) is a synaptic protein involved in synaptic plasticity and regulation of neuronal excitability. Lower baseline cerebrospinal fluid (CSF) NPTX2 levels have been shown to be associated with an earlier onset of mild cognitive impairment (MCI), a pre‐dementia syndrome, even after CSF Alzheimer's Disease (AD)
Juan P. Vazquez, Corinne Pettigrew, Yuxin Zhu, Claire Anderson, Guray Erus, Christos Davatzikos, Michael Miller, Abhay Moghekar, Sungtaek Oh, Chan‐Hyun Na, Marilyn Albert, Paul Worley, Anja Soldan   +12 more
wiley   +1 more source

Genetic architecture of the Sindhi Indian population: a 19X-STR forensic analysis. [PDF]

BMC Genomics
Gautam K, Devnani C, Dasgupta S, Nandineni MR, Thangaraj K, Chaubey G, Rawal R.   +6 more
europepmc   +1 more source