Visual Recovery Reflects Cortical MeCP2 Sensitivity in Rett Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Rett syndrome (RTT) is a devastating neurodevelopmental disorder with developmental regression affecting motor, sensory, and cognitive functions. Sensory disruptions contribute to the complex behavioral and cognitive difficulties and represent an important target for therapeutic interventions.
Alex Joseph Simon +12 more
wiley +1 more source
Current Issues in Molecular BiologyKidney disease has emerged as a significant global health issue, projected to become the fifth-leading cause of years of life lost by 2040. The kidneys, being highly radiosensitive, are vulnerable to damage from various forms of radiation, including ...
Grigory Demyashkin +12 more
doaj +1 more source
Round cell tumors: Classification and immunohistochemistry
Indian Journal of Medical and Paediatric Oncology, 2017 Round cell tumors as the name suggest are comprised round cells with increased nuclear-cytoplasmic ratio. This group of tumor includes entities such as peripheral neuroectodermal tumor, rhabdomyosarcoma, synovial sarcoma, non-Hodgkin's lymphoma ...
Shweta Sharma +7 more
doaj +1 more source
Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow +6 more
wiley +1 more source
Variably Protease‐Sensitive Prionopathy: Two New Cases With Motor Neuron‐Dementia Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT We describe two patients with variably protease‐sensitive prionopathy (VPSPr) who developed progressive upper motor neuron symptoms, insomnia, behavioral and cognitive decline, compatible with primary lateral sclerosis associated with frontotemporal dementia (FTD).
María Elena Erro +10 more
wiley +1 more source
p53 and MIB-1 Immunohistochemistry as Predictors of the Clinical Behavior of Nonfunctioning Pituitary Adenomas [PDF]
, 2003 Stephen J. Hentschel +3 more
openalex +1 more source
Immune‐Driven Expression in Inclusion Body Myositis With T‐Cell Large Granular Lymphocytic Leukemia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives T‐cell large granular lymphocytic leukemia (T‐LGLL), reported in up to 58% of inclusion body myositis (IBM) patients, is a rare leukemia of cytotoxic or less commonly helper T cells. The range of myopathies in T‐LGLL and the impact of coexisting T‐LGLL in IBM are not well understood. Our objectives are to investigate the spectrum of
Pannathat Soontrapa +10 more
wiley +1 more source
Cell‐blocks are suitable material for programmed cell death ligand‐1 immunohistochemistry: Comparison of cell‐blocks and matched surgical resection specimens in lung cancer [PDF]
, 2019 Min Gyoung Pak, Mee Sook Roh
openalex +1 more source
Plasmacytoma in patients with multiple myeloma: morphology and immunohistochemistry [PDF]
, 2020 Maiia V. Firsova +4 more
openalex +1 more source
Traumatic Microhemorrhages Are Not Synonymous With Axonal Injury
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Diffuse axonal injury (DAI) is caused by acceleration‐deceleration forces during trauma that shear white matter tracts. Susceptibility‐weighted MRI (SWI) identifies microbleeds that are considered the radiologic hallmark of DAI and are used in clinical prognostication.
Karinn Sytsma +9 more
wiley +1 more source