Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron +5 more
wiley +1 more source
A unique single nucleotide polymorphism in Agouti Signalling Protein (ASIP) gene changes coat colour of Sri Lankan leopard (Panthera pardus kotiya) to dark black. [PDF]
PLoS One, 2023 Sooriyabandara MGC +9 more
europepmc +1 more source
Scrapie-resistant sheep show certain coat colour characteristics [PDF]
, 2009 Bell, L. +5 more
core +1 more source
Using slit rheometry in characterising coating colour flow in the blade coating process [PDF]
, 2006 The aim of the present work was to evaluate the suitability of SLIT rheometry for characterising the coating colour flow in paper coating. The detailed aims were to determine the mechanisms governing the flow through the SLIT; to find out what kind of ...
Egorova, Natalia
core
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi +2 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective The Gold Coast criteria permit diagnosis of amyotrophic lateral sclerosis (ALS) even without upper motor neuron (UMN) signs. However, whether ALS patients with UMN signs (ALSwUMN) and those without (ALSwoUMN) share similar characteristics and prognoses remains unclear.
Hee‐Jae Jung +7 more
wiley +1 more source
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Seven Shades of Grey: A Follow-Up Study on the Molecular Basis of Coat Colour in Indicine Grey Cattle Using Genome-Wide SNP Data. [PDF]
Genes (Basel), 2022 Senczuk G +5 more
europepmc +1 more source
[18F]Fluorodeprenyl‐D2 PET as a Tool to Monitor Disease Activity in GAD65‐Ab Autoimmune Encephalitis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To evaluate [18F]fluorodeprenyl‐D2 ([18F]F‐DED) positron‐emission tomography (PET) imaging as a biomarker of disease activity in autoimmune encephalitis (AIE) associated with glutamic acid decarboxylase 65 (GAD65) antibodies. Methods [18F]F‐DED PET was performed in 25 GAD65‐AIE patients and 8 controls using dynamic (0–60 min) and ...
Julia S. Dorneich +19 more
wiley +1 more source
Whole-genome sequencing of endangered Zhoushan cattle suggests its origin and the association of MC1R with black coat colour. [PDF]
Sci Rep, 2021 Jiang L +11 more
europepmc +1 more source