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View article: AB012. Tissue uptake of novel boron neutron capture therapy compounds in a mouse model, with pharmacokinetic and dosimetric extrapolation to human treatment
AB012. Tissue uptake of novel boron neutron capture therapy compounds in a mouse model, with pharmacokinetic and dosimetric extrapolation to human treatment Open
View article: 26 EXPLORING THE ROLE OF EXERCISE ON COGNITIVE FUNCTION IN GLIOBLASTOMA
26 EXPLORING THE ROLE OF EXERCISE ON COGNITIVE FUNCTION IN GLIOBLASTOMA Open
Cognitive impairments are common in patients living with glioblastoma (GB) and contribute significantly to the diminished quality of life, treatment adherence, and functional independence. Resistance training offers a practical approach to…
View article: Towards a diagnostic test for sporadic ALS utilising deep learning and SNP microarrays
Towards a diagnostic test for sporadic ALS utilising deep learning and SNP microarrays Open
A variety of common and rare genetic factors have been implicated in the development of amyotrophic lateral sclerosis (ALS), and the evidence is that a genetic component is present in most affected individuals. However, our current underst…
View article: Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications
Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications Open
Background Despite several studies suggesting a potential oligogenic risk model in amyotrophic lateral sclerosis (ALS), case–control statistical evidence implicating oligogenicity with disease risk or clinical outcomes is limited. Consider…
View article: Sodium valproate, a potential repurposed treatment for the neurodegeneration in Wolfram syndrome (TREATWOLFRAM): trial protocol for a pivotal multicentre, randomised double-blind controlled trial
Sodium valproate, a potential repurposed treatment for the neurodegeneration in Wolfram syndrome (TREATWOLFRAM): trial protocol for a pivotal multicentre, randomised double-blind controlled trial Open
Introduction Wolfram syndrome ( WFS1- Spectrum Disorder) is an ultra-rare monogenic form of progressive neurodegeneration and diabetes mellitus. In common with most rare diseases, there are no therapies to slow or stop disease progression.…
View article: First Estimation of the Clinical Utility of Boronotyrosine as a Boron Delivery Compound for Boron Neutron Capture Therapy in Head and Neck Cancer
First Estimation of the Clinical Utility of Boronotyrosine as a Boron Delivery Compound for Boron Neutron Capture Therapy in Head and Neck Cancer Open
View article: First estimation of the clinical utility of boronotyrosine as a boron delivery compound for boron neutron capture therapy in head and neck cancer
First estimation of the clinical utility of boronotyrosine as a boron delivery compound for boron neutron capture therapy in head and neck cancer Open
View article: Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data
Mechanism-free repurposing of drugs for C9orf72-related ALS/FTD using large-scale genomic data Open
View article: Genome-wide association study of copy number variations in Parkinson’s disease
Genome-wide association study of copy number variations in Parkinson’s disease Open
Objective To investigate the impact of copy number variations (CNVs) on Parkinson’s disease (PD) pathogenesis using genome-wide data and explore their role in sporadic PD. Methods We analyzed CNV data from 11,035 PD patients (including 2,7…
View article: Association of Body Mass Index and Parkinson Disease
Association of Body Mass Index and Parkinson Disease Open
Using an independent data set (Courage-PD), we replicate an inverse association of genetically predicted BMI with PD, not explained by survival or incidence-prevalence biases. Moreover, reverse MR analyses support an inverse association be…
View article: Mutations in the tail and rod domains of the neurofilament heavy‐chain gene increase the risk of <scp>ALS</scp>
Mutations in the tail and rod domains of the neurofilament heavy‐chain gene increase the risk of <span>ALS</span> Open
Objective Neurofilament heavy‐chain gene ( NEFH ) variants are associated with multiple neurodegenerative diseases, however, their relationship with ALS has not been robustly explored. Still, NEFH is commonly included in genetic screening …
View article: Computing linkage disequilibrium aware genome embeddings using autoencoders
Computing linkage disequilibrium aware genome embeddings using autoencoders Open
Motivation The completion of the genome has paved the way for genome-wide association studies (GWAS), which explained certain proportions of heritability. GWAS are not optimally suited to detect non-linear effects in disease risk, possibly…
View article: Utility of a safety switch to abrogate CD19.CAR T-cell–associated neurotoxicity
Utility of a safety switch to abrogate CD19.CAR T-cell–associated neurotoxicity Open
View article: The oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling, and therapeutic implications
The oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling, and therapeutic implications Open
Recently, large-scale case-control analyses have been prioritized in the study of ALS. Yet the same effort has not been put forward to investigate additive moderate phenotypic effects of genetic variants in genes driving ALS risk, despite …
View article: Mechanism-Free Repurposing of Drugs For&nbsp;C9orf72-related ALS/FTD Using Large-Scale Genomic Data
Mechanism-Free Repurposing of Drugs For C9orf72-related ALS/FTD Using Large-Scale Genomic Data Open
View article: Mechanism-Free Repurposing of Drugs For&nbsp;C9orf72-Related ALS/FTD Using Large-Scale Genomic Data
Mechanism-Free Repurposing of Drugs For C9orf72-Related ALS/FTD Using Large-Scale Genomic Data Open
View article: Genetic and phenotype analyses of primary lateral sclerosis datasets from international cohorts
Genetic and phenotype analyses of primary lateral sclerosis datasets from international cohorts Open
Primary lateral sclerosis (PLS) is the rarest form of motor neurone disease (MND). It is characterized by upper motor neuron degeneration, leading to progressive weakness, spasticity and functional disability. Although PLS does not typical…
View article: Development of ‘gastrostomy tube – is it for me?’, a web-based patient decision aid for people living with motor neurone disease considering having a gastrostomy tube placed
Development of ‘gastrostomy tube – is it for me?’, a web-based patient decision aid for people living with motor neurone disease considering having a gastrostomy tube placed Open
Objective: To develop and pilot a web-based patient decision aid (PDA) to support people living with motor neurone disease (plwMND) considering having a gastrostomy tube placed. Methods: In Phase 1, content and design were in…
View article: Unsupervised machine-learning identifies clinically distinct subtypes of ALS that reflect different genetic architectures and biological mechanisms
Unsupervised machine-learning identifies clinically distinct subtypes of ALS that reflect different genetic architectures and biological mechanisms Open
Background Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterised by a highly variable clinical presentation and multifaceted genetic and biological bases that translate into great patient heterogeneity. The…
View article: Serum Neurofilaments in Motor Neuron Disease and Their Utility in Differentiating ALS, PMA and PLS
Serum Neurofilaments in Motor Neuron Disease and Their Utility in Differentiating ALS, PMA and PLS Open
Neurofilament levels are elevated in many neurodegenerative diseases and have shown promise as diagnostic and prognostic biomarkers in Amyotrophic Lateral Sclerosis (ALS), the most common form of Motor Neuron Disease (MND). This study asse…
View article: Genetic variability in sporadic amyotrophic lateral sclerosis
Genetic variability in sporadic amyotrophic lateral sclerosis Open
With the advent of gene therapies for amyotrophic lateral sclerosis (ALS), there is a surge in gene testing for this disease. Although there is ample experience with gene testing for C9orf72, SOD1, FUS and TARDBP in familial ALS, large stu…
View article: Data from Inhibition of Megakaryocyte Differentiation by Antibody–Drug Conjugates (ADCs) is Mediated by Macropinocytosis: Implications for ADC-induced Thrombocytopenia
Data from Inhibition of Megakaryocyte Differentiation by Antibody–Drug Conjugates (ADCs) is Mediated by Macropinocytosis: Implications for ADC-induced Thrombocytopenia Open
Thrombocytopenia is a common adverse event in cancer patients treated with antibody–drug conjugates (ADC), including AGS-16C3F, an ADC targeting ENPP3 (ectonucleotide pyrophosphatase/phosphodiesterase-3) and trastuzumab emtansine (T-DM1). …
View article: Data from The Discovery and Preclinical Development of ASG-5ME, an Antibody–Drug Conjugate Targeting SLC44A4-Positive Epithelial Tumors Including Pancreatic and Prostate Cancer
Data from The Discovery and Preclinical Development of ASG-5ME, an Antibody–Drug Conjugate Targeting SLC44A4-Positive Epithelial Tumors Including Pancreatic and Prostate Cancer Open
Here, we report the development of an antibody–drug conjugate, ASG-5ME, which targets the solute carrier receptor SLC44A4. SLC44A4 is a member of a family of putative choline transporters that we show to be markedly upregulated in a variet…
View article: Supplementary methods, legends, Figures S1-S5, and Tables S1-S2 from Inhibition of Megakaryocyte Differentiation by Antibody–Drug Conjugates (ADCs) is Mediated by Macropinocytosis: Implications for ADC-induced Thrombocytopenia
Supplementary methods, legends, Figures S1-S5, and Tables S1-S2 from Inhibition of Megakaryocyte Differentiation by Antibody–Drug Conjugates (ADCs) is Mediated by Macropinocytosis: Implications for ADC-induced Thrombocytopenia Open
Fig. S1. Structure of AGS-16C3F; Figure S2. ENPP3 was not expressed in megakaryocytes; Figure S3. AGS-16C3F did not affect platelet activation; Figure S4. Maturing MKs did not express ENPP3; Figure S5. Fc blocker inhibited FcγRIIA pathway …
View article: Supplementary methods, legends, Figures S1-S5, and Tables S1-S2 from Inhibition of Megakaryocyte Differentiation by Antibody–Drug Conjugates (ADCs) is Mediated by Macropinocytosis: Implications for ADC-induced Thrombocytopenia
Supplementary methods, legends, Figures S1-S5, and Tables S1-S2 from Inhibition of Megakaryocyte Differentiation by Antibody–Drug Conjugates (ADCs) is Mediated by Macropinocytosis: Implications for ADC-induced Thrombocytopenia Open
Fig. S1. Structure of AGS-16C3F; Figure S2. ENPP3 was not expressed in megakaryocytes; Figure S3. AGS-16C3F did not affect platelet activation; Figure S4. Maturing MKs did not express ENPP3; Figure S5. Fc blocker inhibited FcγRIIA pathway …
View article: Supplementary Materials and Methods: Generation of IHC Reagent M15-68(2)22 from Development of ASG-15ME, a Novel Antibody–Drug Conjugate Targeting <i>SLITRK6</i>, a New Urothelial Cancer Biomarker
Supplementary Materials and Methods: Generation of IHC Reagent M15-68(2)22 from Development of ASG-15ME, a Novel Antibody–Drug Conjugate Targeting <i>SLITRK6</i>, a New Urothelial Cancer Biomarker Open
Details on how the IHC reagent reported in this paper was generated and validated.
View article: Data from Development of ASG-15ME, a Novel Antibody–Drug Conjugate Targeting <i>SLITRK6</i>, a New Urothelial Cancer Biomarker
Data from Development of ASG-15ME, a Novel Antibody–Drug Conjugate Targeting <i>SLITRK6</i>, a New Urothelial Cancer Biomarker Open
SLITRK6 is a member of the SLITRK family of neuronal transmembrane proteins that was discovered as a bladder tumor antigen using suppressive subtractive hybridization. Extensive immunohistochemistry showed SLITRK6 to be expressed in…
View article: Data from The Discovery and Preclinical Development of ASG-5ME, an Antibody–Drug Conjugate Targeting SLC44A4-Positive Epithelial Tumors Including Pancreatic and Prostate Cancer
Data from The Discovery and Preclinical Development of ASG-5ME, an Antibody–Drug Conjugate Targeting SLC44A4-Positive Epithelial Tumors Including Pancreatic and Prostate Cancer Open
Here, we report the development of an antibody–drug conjugate, ASG-5ME, which targets the solute carrier receptor SLC44A4. SLC44A4 is a member of a family of putative choline transporters that we show to be markedly upregulated in a variet…
View article: Data from Inhibition of Megakaryocyte Differentiation by Antibody–Drug Conjugates (ADCs) is Mediated by Macropinocytosis: Implications for ADC-induced Thrombocytopenia
Data from Inhibition of Megakaryocyte Differentiation by Antibody–Drug Conjugates (ADCs) is Mediated by Macropinocytosis: Implications for ADC-induced Thrombocytopenia Open
Thrombocytopenia is a common adverse event in cancer patients treated with antibody–drug conjugates (ADC), including AGS-16C3F, an ADC targeting ENPP3 (ectonucleotide pyrophosphatase/phosphodiesterase-3) and trastuzumab emtansine (T-DM1). …
View article: Data from Development of ASG-15ME, a Novel Antibody–Drug Conjugate Targeting <i>SLITRK6</i>, a New Urothelial Cancer Biomarker
Data from Development of ASG-15ME, a Novel Antibody–Drug Conjugate Targeting <i>SLITRK6</i>, a New Urothelial Cancer Biomarker Open
SLITRK6 is a member of the SLITRK family of neuronal transmembrane proteins that was discovered as a bladder tumor antigen using suppressive subtractive hybridization. Extensive immunohistochemistry showed SLITRK6 to be expressed in…