Results 251 to 260 of about 212,366 (345)

Resilience to Endoplasmic Reticulum Stress Mitigates Membrane Hyperexcitability Underlying Late Disease Onset in a Murine Model of SCA6

open access: yesAnnals of Neurology, EarlyView.
Objective An enduring puzzle in many inherited neurological disorders is the late onset of symptoms despite expression of function‐impairing mutant protein early in life. We examined the basis for onset of impairment in spinocerebellar ataxia type 6 (SCA6), a canonical late‐onset neurodegenerative ataxia which results from a polyglutamine expansion in ...
Haoran Huang   +10 more
wiley   +1 more source

Impact of Partial Penectomy and Glansectomy on Couples' Sexual Function. [PDF]

open access: yesInt Braz J Urol
Fosse AM   +6 more
europepmc   +1 more source

Association between Human Leukocyte Antigen Alleles and Neuropathological Outcomes in Lewy Body Disease

open access: yesAnnals of Neurology, EarlyView.
Objective Lewy body disease (LBD) is a complex neurodegenerative disorder characterized by the accumulation of misfolded α‐synuclein in the brain. Neuroinflammation has long been implicated in LBD pathogenesis, and recent genetic studies in Parkinson's disease (a clinical manifestation of LBD) have shown consistent association with the human leukocyte ...
Marios Gavrielatos   +34 more
wiley   +1 more source

Anatomical Associations Between Focal Mitochondrial Metabolism and Patterns of Neurodegeneration in Amyotrophic Lateral Sclerosis

open access: yesAnnals of Neurology, EarlyView.
Objective Amyotrophic lateral sclerosis (ALS) has a very specific neuroimaging signature, but the molecular underpinnings of the strikingly selective anatomic involvement have not elucidated to date. Accordingly, a large neuroimaging study was conducted with 258 participants to evaluate associations between patterns of neurodegeneration and focal ...
Marlene Tahedl   +10 more
wiley   +1 more source

Speech Biomarkers From Smartphone Calls Track Progression in REM Sleep Behavior Disorder and Parkinson's Disease

open access: yesAnnals of Neurology, EarlyView.
Objective This 24‐month longitudinal study involving isolated rapid eye movement sleep behavior disorder (iRBD), early‐stage Parkinson's disease (PD), and matched healthy control subjects aimed to assess whether acoustic speech features from real‐world smartphone calls provide passive progressive biomarkers in synucleinopathies.
Michal Šimek   +11 more
wiley   +1 more source

Severe, Non‐apneic Respiratory Dysfunction and Hypoxia following Generalized Convulsive Seizures

open access: yesAnnals of Neurology, EarlyView.
Objective Sudden unexpected death in epilepsy (SUDEP) is a devastating consequence of some generalized convulsive seizures (GCS). Recent work has focused on seizure related apnea as a biomarker of SUDEP risk, frequently without characterizing the adequacy of non‐apneic ventilation or identifying other dysfunctional breathing patterns.
Haley E. Pysick   +9 more
wiley   +1 more source

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