New England Journal of Medicine and Nature iPad Applications, Vol.10 (4) [PDF]
, 2012 Texas Medical Center Library
core +1 more source
Mitochondrial DNA disorders in neuromuscular diseases in diverse populations
Annals of Clinical and Translational Neurology, EarlyView.Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao +34 more
wiley +1 more source
Library\u27s Mobile Applications; March eScience Lecture, Vol. 10, (3) [PDF]
, 2012 Texas Medical Center Library
core +1 more source
Library resource sharing and the Medical Library Center of New York. [PDF]
J Med Libr Assoc, 2020 Gallagher PE.
europepmc +1 more source
FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier +20 more
wiley +1 more source
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas +24 more
wiley +1 more source
How will Houston deal with a Pandemic? New class: tracking your publications, Vol. 10 (10) [PDF]
, 2012 Texas Medical Center Library
core +1 more source
Medical Library Association Diversity and Inclusion Task Force 2019 Survey Report. [PDF]
J Med Libr Assoc, 2020 Pionke JJ.
europepmc +1 more source
Whole‐Blood RNA Sequencing Profiling of Patients With Rheumatoid Arthritis Treated With Tofacitinib
ACR Open Rheumatology, EarlyView.Objective Patients with rheumatoid arthritis (RA) often fail to respond to therapies, including JAK inhibitors (JAKi), and treatment allocation is made via a trial‐and‐error strategy. A comprehensive analysis of responses to JAKi, including tofacitinib, by RNA sequencing (RNAseq) would allow the discovery of transcriptomic markers with a two‐fold ...
Chiara Bellocchi +11 more
wiley +1 more source