[PDF][PDF] Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease
…, BK Stubblefield, JK Park, E Orvisky, JM Walker… - The American Journal of …, 2003 - cell.com
Gaucher disease results from an autosomal recessive deficiency of the lysosomal enzyme
glucocerebrosidase. The glucocerebrosidase gene is located in a gene-rich region of 1q21 …
glucocerebrosidase. The glucocerebrosidase gene is located in a gene-rich region of 1q21 …
The role of CD40 in CD40L-and antibody-mediated platelet activation
…, S Ahmad, JM Walker, M Amaya… - Thrombosis and …, 2005 - thieme-connect.com
Our initial finding that CD40– and CD40 ligand (CD40L)-deficient mice displayed prolonged
tail bleeding and platelet function analyzer (PFA-100) closure times prompted us to further …
tail bleeding and platelet function analyzer (PFA-100) closure times prompted us to further …
[HTML][HTML] The prevalence, correlation, and co-occurrence of neuropathology in old age: harmonisation of 12 measures across six community-based autopsy studies of …
…, MR Scott, JD Steinmetz, JM Walker… - The Lancet Healthy …, 2023 - thelancet.com
Background Population-based autopsy studies provide valuable insights into the causes of
dementia but are limited by sample size and restriction to specific populations. …
dementia but are limited by sample size and restriction to specific populations. …
[HTML][HTML] Total copy number variation as a prognostic factor in adult astrocytoma subtypes
Since the discovery that IDH1/2 mutations confer a significantly better prognosis in astrocytomas,
much work has been done to identify other molecular signatures to help further stratify …
much work has been done to identify other molecular signatures to help further stratify …
[HTML][HTML] Predictors of cognitive impairment in primary age-related tauopathy: an autopsy study
Primary age-related tauopathy (PART) is a form of Alzheimer-type neurofibrillary degeneration
occurring in the absence of amyloid-beta (Aβ) plaques. While PART shares some …
occurring in the absence of amyloid-beta (Aβ) plaques. While PART shares some …
[HTML][HTML] Artificial intelligence-derived neurofibrillary tangle burden is associated with antemortem cognitive impairment
Tauopathies are a category of neurodegenerative diseases characterized by the presence
of abnormal tau protein-containing neurofibrillary tangles (NFTs). NFTs are universally …
of abnormal tau protein-containing neurofibrillary tangles (NFTs). NFTs are universally …
Early selective vulnerability of the CA2 hippocampal subfield in primary age-related tauopathy
JM Walker, TE Richardson, K Farrell… - … of Neuropathology & …, 2021 - academic.oup.com
Primary age-related tauopathy (PART) is a neurodegenerative entity defined as Alzheimer-type
neurofibrillary degeneration primarily affecting the medial temporal lobe with minimal to …
neurofibrillary degeneration primarily affecting the medial temporal lobe with minimal to …
[HTML][HTML] Interpretable deep learning of myelin histopathology in age-related cognitive impairment
…, D Koenigsberg, M Sawyer, MA Iida, JM Walker… - Acta Neuropathologica …, 2022 - Springer
Age-related cognitive impairment is multifactorial, with numerous underlying and frequently
co-morbid pathological correlates. Amyloid beta (Aβ) plays a major role in Alzheimer’s type …
co-morbid pathological correlates. Amyloid beta (Aβ) plays a major role in Alzheimer’s type …
Molecular correlates of long survival in IDH-wildtype glioblastoma cohorts
…, A Kumar, KG Abdullah, JM Walker… - … of Neuropathology & …, 2020 - academic.oup.com
IDH-wildtype glioblastoma is a relatively common malignant brain tumor in adults. These
patients generally have dismal prognoses, although outliers with long survival have been noted …
patients generally have dismal prognoses, although outliers with long survival have been noted …
Genome-wide association study and functional validation implicates JADE1 in tauopathy
…, MA Iida, EM Gonzalez, M Otero-Garcia, JM Walker… - Acta …, 2022 - Springer
Primary age-related tauopathy (PART) is a neurodegenerative pathology with features
distinct from but also overlapping with Alzheimer disease (AD). While both exhibit Alzheimer-type …
distinct from but also overlapping with Alzheimer disease (AD). While both exhibit Alzheimer-type …