Anomalies in the cognitive-executive functions in patients with chiari malformation type I [PDF]
Resumen tomado de la publicaciónAnomalías en las funciones cognitivo-ejecutivas en pacientes con la Malformación de Chiari Tipo I. Antecedentes: en la última década, existen evidencias crecientes de que déficits neuropsicológicos, esencialmente en ...
Besteiro González, José Luis +1 more
core +2 more sources
Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende +26 more
wiley +1 more source
A developmental and genetic classification for malformations of cortical development: update 2012. [PDF]
Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain
Barkovich, A James +4 more
core +3 more sources
Fluid Biomarkers of Disease Burden and Cognitive Dysfunction in Progressive Supranuclear Palsy
ABSTRACT Objective Identifying objective biomarkers for progressive supranuclear palsy (PSP) is crucial to improving diagnosis and establishing clinical trial and treatment endpoints. This study evaluated fluid biomarkers in PSP versus controls and their associations with regional 18F‐PI‐2620 tau‐PET, clinical, and cognitive outcomes.
Roxane Dilcher +10 more
wiley +1 more source
mGlu1 Receptors Monopolize the Synaptic Control of Cerebellar Purkinje Cells by Epigenetically Down-Regulating mGlu5 Receptors [PDF]
In cerebellar Purkinje cells (PCs) type-1 metabotropic glutamate (mGlu1) receptors play a key role in motor learning and drive the refinement of synaptic innervation during postnatal development.
Atsu Aiba +16 more
core +2 more sources
ABSTRACT Background and Objectives Multiple sclerosis (MS) exhibits racially disparate rates of disease progression. Black people with MS (B‐PwMS) experience a more severe disease course than non‐Hispanic White people with MS (NHW‐PwMS). Here we investigated structural and functional connectivity as well as structure–function decoupling in the ...
Emilio Cipriano +11 more
wiley +1 more source
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
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
Prefronto-cerebellar transcranial direct current stimulation increases amplituded and decreases latency of P3b component in patients with euthymic bipolar disorder [PDF]
INTRODUCTION: Neurocognitive impairments have been observed in patients with bipolar disorder (BD) even during the euthymic phase of the disease, potentially representing trait-associated rather than state-associated characteristics of the disorder.
BERNABEI, LAURA +12 more
core +2 more sources
Clinical Validation of Plasma p‐217tau in Neurological Diseases
ABSTRACT Objective Plasma p‐217tau is a minimally invasive but specific biomarker for diagnosing Alzheimer's disease (AD). However, its disease specificity remains to be clinically evaluated. We validated the reliability of the p‐217tau biomarker in 12 other neurological diseases.
Takeshi Kawarabayashi +13 more
wiley +1 more source
Dystonia is a specific type of abnormal movement characterized by involuntary movement, abnormal posture, or both due to persistent or intermittent muscle contractions.
WENG Yajing +5 more
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