An Out‐of‐Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT The FMR1 gene premutation (55–200 CGG repeats) is usually associated with a wide range of symptoms and phenotypes within the Fragile X‐tremor/ataxia syndrome (FXTAS), but may also manifest as predominant or isolated cognitive decline. We describe three male patients referred for progressive cognitive impairment and behavioral changes. Standard
Guido Greco +7 more
wiley +1 more source
Unraveling the Anthocyanin Regulatory Mechanisms of White Mutation in Verbena stricta by Integrative Transcriptome and Metabolome Analysis. [PDF]
Genes (Basel)Chai S +4 more
europepmc +1 more source
Variably Protease‐Sensitive Prionopathy: Two New Cases With Motor Neuron‐Dementia Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT We describe two patients with variably protease‐sensitive prionopathy (VPSPr) who developed progressive upper motor neuron symptoms, insomnia, behavioral and cognitive decline, compatible with primary lateral sclerosis associated with frontotemporal dementia (FTD).
María Elena Erro +10 more
wiley +1 more source
Mutation of the white gene in Drosophila has broad phenotypic and transcriptomic effects [PDF]
April Rickle +4 more
openalex +1 more source
Mutations in Insulin-Receptor Gene: Val996 Allele in White NIDDM Patients
Diabetes Care, 1992 PORCELLINI, ANTONIO +6 more
openaire +3 more sources
Hepatocellular carcinoma mutation landscape and its differences between Asians and Whites
Hepatobiliary Surgery and Nutrition, 2022 Chen, Xingte, Ke, Qiao, Wang, Lei
openaire +2 more sources
Adult‐Onset Subacute Sclerosing Panencephalitis Presenting With Subacute Cognitive Deficits
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT We describe the case of a 41‐year‐old man diagnosed with adult‐onset subacute sclerosing panencephalitis (SSPE). The patient presented with subacute progressive cognitive deficits and a neuropsychological profile indicating predominant frontoparietal dysfunction. MRI showed only mild parietal‐predominant cerebral atrophy.
Dennis Yeow +4 more
wiley +1 more source
Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas +39 more
wiley +1 more source
Two bHLH Transcription Factor Genes <i>AhWSC1a</i> and <i>AhWSC1b</i> Act as Gatekeepers of Testa Pigmentation, Preventing White Seed Coats in Peanuts. [PDF]
Plants (Basel)Chen G +13 more
europepmc +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To investigate the value of constructing models based on habitat radiomics and pathomics for predicting the risk of progression in high‐grade gliomas. Methods This study conducted a retrospective analysis of preoperative magnetic resonance (MR) images and pathological sections from 72 patients diagnosed with high‐grade gliomas (52 ...
Yuchen Zhu +14 more
wiley +1 more source