Expanding the Genetic and Phenotypic Spectrum of DYT‐VPS16: The Importance of Splice‐Site Variants
Movement Disorders, EarlyView.Abstract Background DYT‐VPS16, an early‐onset isolated dystonia caused by variants in the VPS16 gene, has been reported in fewer than 70 patients. Methods We explored the clinical and genotypic spectrum of DYT‐VPS16 by investigating early‐onset dystonia patients with VPS16 variants discovered in our large Biodatabank and through gene‐matching ...
Ana Westenberger +39 more
wiley +1 more source
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency [PDF]
, 2017 Connolly, Anne M +4 more
core +2 more sources
Alagille syndrome mutation update: Comprehensive overview ofJAG1andNOTCH2mutation frequencies and insight into missense variant classification [PDF]
, 2019 Melissa A. Gilbert +13 more
openalex +1 more source
Missense mutation (Ser654Leu) in the ITGA8 gene associated with renal hypodysplasia: A case report. [PDF]
Biomed RepSingh KG, Moorthy A.
europepmc +1 more source
Loss‐of‐Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia
Movement Disorders, EarlyView.Abstract Background Hereditary spastic paraplegias (HSPs) are neurodegenerative disorders characterized by lower‐limb spasticity. Pathogenic variants in CPT1C have been implicated in HSP. Objective The objective of this study was to assess whether CPT1C loss‐of‐function (LOF) variants are causally associated with HSP.
Rui Zhu +17 more
wiley +1 more source
A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia [PDF]
, 2014 Ho Tsoi +17 more
openalex +1 more source
Adult onset cryopyrin-associated periodic syndrome due to germline missense mutation in <i>NLRP3</i> in a previously healthy middle-aged woman. [PDF]
Front ImmunolCho SI +6 more
europepmc +1 more source
Medicinal Research Reviews, EarlyView.ABSTRACT Respiratory syncytial virus (RSV) is a common virus that causes respiratory infections, posing a serious threat, particularly to infants, the elderly, and individuals with compromised immune systems. As the leading cause of lower respiratory tract infections (LRTIs) in infants, RSV is responsible for millions of cases worldwide each year.
Jie Shi +6 more
wiley +1 more source
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language [PDF]
, 2018 Fiala, Elise, Willing, Marcia
core +1 more source
Familial intracranial arachnoid cysts with a missense mutation (c.2576C > T) in RERE
, 2018 Yubo Wang +3 more
openalex +1 more source