Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki +8 more
wiley +1 more source
Physical and Comparative Mapping of Distal Mouse Chromosome 16 [PDF]
, 1998 Deborah E. Cabin +8 more
openalex +1 more source
Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Clinical trials for Huntington's disease (HD) enrolling persons before clinical motor diagnosis (CMD) lack validated biomarkers. This study aimed to conduct an unbiased discovery analysis and a targeted examination of proteomic biomarkers scrutinized by clinical validation. Methods Cerebrospinal fluid was obtained from PREDICT‐HD and
Daniel Chelsky +8 more
wiley +1 more source
Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan +3 more
wiley +1 more source
Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome. [PDF]
, 1993 I. A. Glass +9 more
openalex +1 more source
Arthritis Care &Research, Accepted Article.Objective A leading cause of death among scleroderma (SSc) patients, interstitial lung disease (ILD) remains challenging to prognosticate. The discovery of biomarkers that accurately determine which patients would benefit from close monitoring and aggressive therapy would be an essential clinical tool.
Cristina M Padilla +13 more
wiley +1 more source
Chromosome Complement of the Fungal Plant Pathogen Fusarium graminearum Based on Genetic and Physical Mapping and Cytological Observations [PDF]
, 2005 Liane Rosewich Gale +10 more
openalex +1 more source
Chromosome characterization and physical mapping of 18S rDNA in Lilium longiflorum originated interspecific hybrids using combined genomic and fluorescent in situ hybridization [PDF]
, 2021 Md Mazharul Islam +6 more
openalex +1 more source
The gene order on Human Chromosome 15 and Chicken Chromosome 10 reveal multiple inter- and intrachromosomal rearrangements [PDF]
Comparative mapping between the human and chicken genomes has revealed a striking conservation of synteny between the genomes of these two species, but the results have been based on low-resolution comparative maps.
Crooijmans, R.P.M.A. +4 more
core
Advanced Engineering Materials, EarlyView.Herein, environmental scanning electron microscopy (ESEM) is discussed as a powerful extension of conventional SEM for life sciences. By combining high‐resolution imaging with variable pressure and humidity, ESEM allows the analysis of untreated biological materials, supports in situ monitoring of hydration‐driven changes, and advances the functional ...
Jendrian Riedel +6 more
wiley +1 more source