Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.
Seda Susgun +95 more
wiley +1 more source
The Case of a 25‐Year‐Old Woman With Isolated Head Tremor
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT This study reported a 25‐year‐old woman with isolated head tremors as the main manifestation, along with type 1 diabetes, bilateral hearing loss, and leukoencephalopathy, who was diagnosed with mitochondrial disease due to a single large mtDNA deletion (m.8647‐16082del).
Ying Zhao +5 more
wiley +1 more source
Alexander Disease-Associated Glial Fibrillary Acidic Protein Mutations in Mice Induce Rosenthal Fiber Formation and a White Matter Stress Response [PDF]
, 2006 Tracy L. Hagemann +2 more
openalex +1 more source
RAB39B Related Parkinsonism in an Italian Family: A Unique Use of Advanced Therapies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Parkinson's disease (PD) is a neurodegenerative disorder that may sometimes be caused by deleterious genetic variants. Among them, RAB39B polymorphisms are known as rare causes of early‐onset PD associated with intellectual disability (Waisman's syndrome).
Caterina Del Regno +13 more
wiley +1 more source
Spotting the Pattern: A Review on White Coat Color in the Domestic Horse
AnimalsTraits such as shape, size, and color often influence the economic and sentimental value of a horse. Around the world, horses are bred and prized for the colors and markings that make their unique coat patterns stand out from the crowd.
Aiden McFadden +5 more
doaj +1 more source
Prevalence and Predictors of BRCA1 and BRCA2 Mutations in a Population-Based Study of Breast Cancer in White and Black American Women Ages 35 to 64 Years [PDF]
, 2006 Kathleen E. Malone +21 more
openalex +1 more source
, 2020 Zeynep Coban‐Akdemir +25 more
openalex +1 more source
Familial tumoral calcinosis and testicular microlithiasis associated with a new mutation of GALNT3 in a white family [PDF]
, 2006 Maria Francesca Campagnoli +9 more
openalex +1 more source
LIN28B Promotes Cancer Cell Dissemination and Angiogenesis
Advanced Biology, EarlyView.Children diagnosed with high‐risk neuroblastoma have a 5‐year event‐free survival rate of less than 50% and poor outcomes after recurrence. Deregulation of the LIN28B oncogene can be addressed in these patients. Upregulation of LIN28B is shown to support the metastatic cascade.
Diana Corallo +8 more
wiley +1 more source