Results 31 to 40 of about 205,676 (198)

Early Language Impairment as an Integral Part of the Cognitive Phenotype in Huntington's Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Huntington's disease (HD) speech/language disorders have typically been attributed to motor and executive impairment due to striatal dysfunction. In‐depth study of linguistic skills and the role of extrastriatal structures in HD is scarce.
Arnau Puig‐Davi   +13 more
wiley   +1 more source

Cerebello‐Prefrontal Connectivity Underlying Cognitive Dysfunction in Spinocerebellar Ataxia Type 2

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxia type 2 (SCA2) is a hereditary cerebellar degenerative disorder, with motor and cognitive symptoms. The constellation of cognitive symptoms due to cerebellar degeneration is named cerebellar cognitive affective syndrome (CCAS), which has increasingly been recognized to profoundly impact patients' quality of life;
Ami Kumar   +7 more
wiley   +1 more source

Parking functions: interdisciplinary connections

open access: yesAdvances in Applied Probability, 2023
AbstractSuppose that m drivers each choose a preferred parking space in a linear car park with n spots. In order, each driver goes to their chosen spot and parks there if possible, and otherwise takes the next available spot if it exists. If all drivers park successfully, the sequence of choices is called a parking function. Classical parking functions
openaire   +2 more sources

Validity and Reliability of Clinical and Patient‐Reported Outcomes in Multisystem Proteinopathy 1

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Valosin‐containing protein (VCP)‐associated multisystem proteinopathy 1 (MSP1) is caused by variants in the VCP gene. MSP1 results in various phenotypes including progressive myopathy, Paget's disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis, and parkinsonism, among others.
Lindsay N. Alfano   +15 more
wiley   +1 more source

A PANoptosis‐Based Signature for Survival and Immune Predication in Glioblastoma Multiforme

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PANoptosis is a concept of total cell death characterized by pyroptosis, apoptosis, and necroptosis. We aimed to explore the clinical significance of PANoptosis‐related genes (PARGs) in glioblastoma multiforme (GBM). Methods Expression profiles of GBM were downloaded from the XENA database as a training dataset to construct a ...
Jun Yang   +4 more
wiley   +1 more source

Nuclei‐Specific Amygdala Enlargement Is Linked to Psychiatric Comorbidities in Drug‐Resistant Focal Epilepsy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amygdala enlargement has been the subject of controversial studies regarding its significance in terms of pathogenicity both in epilepsy and in psychiatric comorbidities such as anxiety, depression, and post‐traumatic stress disorder.
Hélène Mourre   +15 more
wiley   +1 more source

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas   +24 more
wiley   +1 more source

Pathway Analyses of Inherited Neuropathies Identify Putative Common Mechanisms of Axon Degeneration

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Inherited neuropathies (IN) are associated with over 100 different genetic mutations presenting with a variety of phenotypes. This complexity suggests multiple pathways may converge onto a limited number of downstream pathways to effect axonal injury.
Christopher R. Cashman   +2 more
wiley   +1 more source

Longitudinal Relationship Between Pain and Depression in People With Inflammatory Arthritis: A Narrative Review

open access: yesArthritis Care &Research, EarlyView.
As many patients with inflammatory arthritis (IA) have chronic pain, understanding how to best assess and manage pain in IA is a priority. Comorbid depression is prevalent in adults with IA, affecting 15% to 39% of people. Although pain and depression are thought to be associated in IA, this concept is largely based on cross‐sectional data.
Natasha Cox   +3 more
wiley   +1 more source

Retrotransposon Expression Is Upregulated in Adulthood and Suppressed during Regeneration of the Limb in the Axolotl (Ambystoma mexicanum)

open access: yesAdvanced Biology, EarlyView.
The axolotl's remarkable regenerative abilities decline with age, the causes may include the numerous repetitive elements within its genome. This study uncovers how Ty3 retrotransposons and coexpression networks involving muscle and immune pathways respond to aging and regeneration, suggesting that transposons respond to physiological shifts and may ...
Samuel Ruiz‐Pérez   +8 more
wiley   +1 more source

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