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The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8
CHD8 , a major autism gene, functions in chromatin remodelling and has various roles involving several biological pathways. Therefore, unsurprisingly,...
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Phenotype-considered kinematically aligned total knee arthroplasty for windswept-deformity-associated osteoarthritis: surgical strategy and clinical outcomes
BackgroundWindswept deformity (WSD) in relation to advanced osteoarthritis (OA) presents a significant surgical challenge in total knee arthroplasty...
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Investigating the correlation between genotype and phenotype in Prader-Willi syndrome: a study of 45 cases from Brazil
BackgroundPrader-Willi syndrome (PWS) is a genetic disorder characterized by abnormalities in the 15q11-q13 region. Understanding the correlation...
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Illness stress-induced transient hyperglycemia in a patient with a novel YIPF5 homozygous missense variant: expanding the phenotype
A recently described type of neonatal diabetes mellitus is caused by mutations in the YIPF5 gene and is combined with manifestations from the central...
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Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia
Pontocerebellar hypoplasia is a group of disorders with a wide range of presentations. We describe here the genetic and phenotypic features of PCH...
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Sitravatinib is a potential EGFR inhibitor and induce a new death phenotype in Glioblastoma
Glioblastoma (GBM) is a highly lethal neurological tumor that presents significant challenge for clinicians due to its heterogeneity and high...
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Genomic evidence for the suitability of Göttingen Minipigs with a rare seizure phenotype as a model for human epilepsy
Epilepsy is a complex genetic disorder that affects about 2% of the global population. Although the frequency and severity of epileptic seizures can...
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Neurological Complications and Consequences of the Novel Coronavirus COVID-19 Infection in Elderly and Senile Patients (Literature Review)
AbstractBased on available publications, the article systematizes information about some forms of lesions of the central nervous system (CNS), their...
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The phenotype and prediction of long-term physical, mental and cognitive COVID-19 sequelae 20 months after recovery, a community-based cohort study in China
Long-term sequelae clustering phenotypes are important for precise health care management in COVID-19 survivors. We reported findings for 1000...
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The behavioral phenotype of children and adolescents with attenuated non-ketotic hyperglycinemia, intermediate to good subtype
AimWe aim to describe the behavioral phenotype of children and adolescents with the good to intermediate attenuated form of non-ketotic...
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Pretreatment with Clodronate Improved Neurological Function by Preventing Reduction of Posthemorrhagic Cerebral Blood Flow in Experimental Subarachnoid Hemorrhage
BackgroundBrain perivascular macrophages (PVMs) are potential treatment targets for subarachnoid hemorrhage (SAH), and previous studies revealed that...
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HLA-DR3 ~ DQ2 associates with sensory neuropathy in paraneoplastic neurological syndromes with Hu antibodies
ObjectivesTo investigate the association between human leukocyte antigen (HLA) and paraneoplastic neurological syndromes (PNS) with Hu antibodies,...
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Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening
The possibility to identify patients with spinal muscular atrophy through neonatal screenings has highlighted the need for clinical assessments that...
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Classification of Parkinson’s disease motor phenotype: a machine learning approach
To assess the cortical activity in people with Parkinson’s disease (PwP) with different motor phenotype (tremor-dominant—TD and postural instability...
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SOX1 antibody-related paraneoplastic neurological syndromes: clinical correlates and assessment of laboratory diagnostic techniques
ObjectiveTo describe the clinical associations of SOX1 antibodies (SOX1-Abs), determine the accuracy of various detection techniques, and propose...
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Acute and post-acute neurological manifestations of COVID-19: present findings, critical appraisal, and future directions
Acute and post-acute neurological symptoms, signs and diagnoses have been documented in an increasing number of patients infected by the Severe Acute...
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Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood
BackgroundFLNC is one of the few genes associated with all types of cardiomyopathies, but it also underlies neuromuscular phenotype. The combination...
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Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations
IntroductionSpinocerebellar ataxia type 14 (SCA14) is a dominantly inherited neurological disorder characterized by slowly progressive cerebellar...
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Relationship between cerebrospinal fluid/serum albumin quotient and phenotype in amyotrophic lateral sclerosis: a retrospective study on 328 patients
BackgroundWe analysed the relationship between cerebrospinal fluid (CSF)/serum albumin quotient (Q-Alb) and phenotype in a large cohort of patients...