Results 71 to 80 of about 125,953 (296)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte +13 more
wiley +1 more source
Factors for Rituximab Refractoriness in AQP4‐IgG+ NMOSD: A Cohort Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Neuromyelitis optica spectrum disorder (NMOSD) is a severe autoimmune condition of the central nervous system (CNS), often associated with aquaporin‐4 antibodies (AQP4‐IgG). Rituximab, a CD20+ B‐cell depleting monoclonal antibody, is widely used as first‐line therapy.
Mariano Marrodan +8 more
wiley +1 more source
Cancer Medicine, 2019 Intraductal papillary mucinous neoplasm (IPMN) of pancreas has a high risk to develop into invasive cancer or co‐occur with malignant lesion. Therefore, it is important to assess its malignant risk by less‐invasive approach.
Raúl N. Mateos +16 more
doaj +1 more source
Genetic Profile and Symptom Pattern Explain Variability of Deep Brain Stimulation Effect in Dystonia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Bilateral globus pallidus pars interna deep brain stimulation (GPi‐DBS) is a recognized and effective treatment option for drug‐resistant dystonia patients. However, the clinical GPi‐DBS outcomes vary significantly. Herein, we explored the pre‐implant factors affecting GPi‐DBS effectiveness.
Mahboubeh Ahmadipour +6 more
wiley +1 more source
From Genomes to GENE-omes: Exome Sequencing Concept and Applications in Crop Improvement
Frontiers in Plant Science, 2017 Exome sequencing represents targeted capture and sequencing of 1–2% of ‘high-value genomic regions’ (subset of the genome) which are enriched for functional variants and harbors low level of repetitive regions.
Parampreet Kaur, Kishor Gaikwad
doaj +1 more source
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly ...
Mirja Thomsen +47 more
wiley +1 more source
Science-Business eXchange, 2009 University of Washington scientists have quickly used their recently published exome-sequencing technique to identify the causal gene for a rare Mendelian disorder called Miller syndrome. The group views this as a stepping stone toward a broader platform for finding the causal genes of more complex diseases.
openaire +2 more sources
When moments matter: Finding answers with rapid exome sequencing
Molecular Genetics & Genomic Medicine, 2020 Background When time is of the essence in critical care cases, a fast molecular diagnosis is often necessary to help health care providers quickly determine best next steps for treatments, prognosis, and counseling of their patients.
Zöe Powis +13 more
doaj +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 +11 more
wiley +1 more source
Frontiers in Genetics, 2019 There is a growing attention toward personalized medicine. This is led by a fundamental shift from the ‘one size fits all’ paradigm for treatment of patients with conditions or predisposition to diseases, to one that embraces novel approaches, such as ...
Pawel Suwinski +7 more
doaj +1 more source