A Japanese familial spastic paraplegia associated with a missense UBQLN2 variant
Statland JM, Barohn RJ, McVey AL, Katz JS, Dimachkie MM. Patterns of weakness, classification of motor neuron disease,…
Prenatal Variants of Uncertain Significance (VUS): to report or not to report?
Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, et al. Prenatal exome sequencing analysis…
Neurobehavioral profile of individuals with pathogenic variants in CHD3
Global, regional, and national incidence, prevalence, and years lived with disability for 354 diseases and injuries for 195…
Organoids Used to Find New Alzheimer’s Disease Treatment Target
Credit: Kateryna Kon/ Getty Images / Science Photo Library Researchers at ShanghaiTech University in China have discovered a…
Genetic insights into the origin, admixture, and migration of the early Austronesian peoples
Shutler R, Marck JC. On the dispersal of the Austronesian horticulturalists. Archaeology Phys Anthropol Ocean. 1975;10:81–113. Google Scholar …
When ganglioside pathways go awry: congenital disorders and experimental insights
Thudichum JLW. A treatise on the chemical constitution of the brain: Bailliere, Tindall, and Cox, London; 1884. Chiricozzi…
NGLY1 deficiency – clinical features and therapeutic strategy
Suzuki T. Catabolism of N-glycoproteins in mammalian cells: molecular mechanisms and genetic disorders related to the processes. Mol…
TF Binding Mapped via DynaTag in Single Cells, Low-Input Samples
Mapping transcription factor (TF) binding sites across the genome is key to understanding how cells control gene expression,…
Mechanistic insights into 16p13.3 microdeletions encompassing TBC1D24 and ATP6V0C through advanced sequencing approaches
Kumar D. Disorders of the genome architecture: a review. Genom Med. 2008;2:69–76. https://doi.org/10.1007/s11568-009-9028-2. Article Google Scholar Shaw CJ,…
New research identifies critical gene for treatment
Amyotrophic lateral sclerosis (ALS) – which you may know as the disease that affected Stephen Hawking – is…
Molecular genetics of J-domain protein-related chaperonopathies in skeletal muscle
Kampinga HH, Andreasson C, Barducci A, Cheetham ME, Cyr D, Emanuelsson C, et al. Function, evolution, and structure…
Ancient viral DNA found to regulate human gene expression
A new international study suggests that ancient viral DNA embedded in our genome, which were long dismissed as…