Results 91 to 100 of about 62,552 (281)

Evidence of Iron Accumulation in Cerebral Adrenoleukodystrophy: A Potential Novel Disease Mechanism

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT In this first application of Quantitative Susceptibility Mapping Source Separation to cerebral adrenoleukodystrophy, we uncovered alterations in iron and myelin within lesions and normal appearing white matter. As validation, we demonstrate abnormal iron accumulation in those same compartments within primary brain tissue.
Christina L. Nemeth   +8 more
wiley   +1 more source

Glomerular C4d Staining Does Not Exclude a C3 Glomerulopathy

open access: yesKidney International Reports, 2019
Introduction: C4d, an early product in the classical/lectin complement pathway has shown potential in the evaluation of C3 glomerulopathy where its absence would support an alternative pathway abnormality.
Geetika Singh   +11 more
doaj   +1 more source

Dense deposit disease: A variant of membranoproliferative glomerulonephritis

open access: yesKidney International, 1975
It has been demonstrated in previous studies that there are several morphological variants of membranoproliferative glomerulonephritis (MPGN) [1–3]. In most cases mesangial cell proliferation and an increase in mesangial matrix are associated with capillary wall thickening (“classical MPGN”).
Habib, Renée   +4 more
openaire   +2 more sources

Normal‐Appearing White Matter Injury Mediates Chronic Deep Venous Hypoxia and Disease Progression in Multiple Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore how cerebral hypoxia and Normal‐Appearing White Matter (NAWM) integrity affect MS lesion burden and clinical course. Methods Seventy‐nine MS patients, including 13 clinically isolated syndrome (CIS) patients and 66 relapsing–remitting multiple sclerosis (RRMS) patients, and 44 healthy controls (HCs) were recruited from ...
Xinli Wang   +8 more
wiley   +1 more source

Sustained microglial depletion with CSF1R inhibitor impairs parenchymal plaque development in an Alzheimer's disease model. [PDF]

open access: yes, 2019
Many risk genes for the development of Alzheimer's disease (AD) are exclusively or highly expressed in myeloid cells. Microglia are dependent on colony-stimulating factor 1 receptor (CSF1R) signaling for their survival.
Bollag, Gideon   +21 more
core  

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling   +16 more
wiley   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza   +19 more
wiley   +1 more source

Smoking-induced long-lasting modifications of human platelet serotonin catabolism through a MAO epigenetic regulation [PDF]

open access: yes, 2008
Postulating that serotonin, secreted from smoking-activated platelets, could be involved in smoking-induced vascular modifications, we studied 115 men distributed in smokers (S), former smokers (FS) and never smokers (NS).
Alain Simon   +8 more
core   +1 more source

Impact of graft loss among kidney diseases with a high risk of post-transplant recurrence in the paediatric population [PDF]

open access: yes, 2017
Background Some kidney diseases tend to recur in the renal allograft after transplantation. We studied the risk of graft loss among primary renal diseases known for their high risk of recurrence and compared it with that of patients with hypoplasia and ...
Belingheri, Mirco   +13 more
core   +1 more source

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone   +8 more
wiley   +1 more source

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