Results 151 to 160 of about 73,544 (253)

Chronic pruritus treated with alendronate in bilateral striopallidodentate calcinosis associated with an SLC20A2 gene mutation

open access: yes
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Adrien Boyard   +12 more
wiley   +1 more source

Decoding neuronal vulnerability: Multidimensional analysis of D1R‐ and D2R‐ medium‐sized spiny neurons in Huntington's disease

open access: yesBrain Pathology, Volume 36, Issue 6, November 2026.
D1R and D2R MSNs show distinct responses to Huntington's pathology. G&T‐sequencing of pre‐symptomatic MSNs reveals global LINE‐1 downregulation. While D1R‐MSNs display early transcriptomic changes (OXPHOS/translation upregulation) and reduced mutant huntingtin aggregation, D2R‐MSNs exhibit higher nuclear mHTT accumulation and greater CAG somatic ...
Guendalina Bergonzoni   +22 more
wiley   +1 more source

Iron accumulation in the substantia nigra is linked to functional network connectivity alterations in early-stage Parkinson's Disease: an exploratory study. [PDF]

open access: yesNPJ Parkinsons Dis
Tendler BC   +20 more
europepmc   +1 more source

Potentiation effects of the positive allosteric modulator PTC‐174 on NMDA receptors in neonatal male rat substantia nigra dopaminergic neurons

open access: yesBritish Journal of Pharmacology, Volume 183, Issue 21, Page 6481-6500, November 2026.
Abstract Background and Purpose Positive allosteric modulators bind to secondary binding sites on the receptor and alter receptor conformation and activation, changing agonist potency and efficacy. PTC‐174 is a novel NMDA receptor positive allosteric modulator that particularly enhances activity of receptors containing GluN2C or GluN2D subunits.
Bangyuan Liu, Alasdair J. Gibb
wiley   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

open access: yesAnnals of Clinical and Translational Neurology, Volume 13, Issue 10, Page 2002-2016, October 2026.
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

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

open access: yesAnnals of Clinical and Translational Neurology, Volume 13, Issue 10, Page 2161-2165, October 2026.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi   +6 more
wiley   +1 more source

Structural compression and entorhinal vulnerability: Linking tentorial adjacency to tau burden and dementia progression

open access: yesAlzheimer's &Dementia, Volume 22, Issue 10, October 2026.
Abstract INTRODUCTION Early neurofibrillary tau degeneration in the entorhinal cortex (EC) is a hallmark of Alzheimer's disease (AD) and aging. We propose a biomechanical cascade hypothesis, suggesting proximity to the tentorial incisura (TI) may render the EC susceptible to chronic mechanical stress, potentially contributing to tau pathology.
Luyue Zhang   +4 more
wiley   +1 more source

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