Pamela Shaw
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British neurologist
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Why Is Pamela Shaw Influential?
(Suggest an Edit or Addition)According to Wikipedia, Dame Pamela Jean Shaw is a British consultant neurologist and professor of neurology at the University of Sheffield. She is the founder and director of the Sheffield Institute for Translational Neuroscience , and in 2019 was appointed to lead the National Institute for Health Research Sheffield Biomedical Research Centre.
Pamela Shaw's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study (2012) (1007)
- Pathological TDP‐43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations (2007) (887)
- Effects of non-invasive ventilation on survival and quality of life in patients with amyotrophic lateral sclerosis: a randomised controlled trial (2006) (881)
- Adaptation to culture of human embryonic stem cells and oncogenesis in vivo (2007) (637)
- Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis (2011) (569)
- Oxidative stress in ALS: key role in motor neuron injury and therapeutic target. (2010) (542)
- White Matter Lesions in an Unselected Cohort of the Elderly: Molecular Pathology Suggests Origin From Chronic Hypoperfusion Injury (2006) (531)
- Amyotrophic lateral sclerosis (2022) (515)
- Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions (2010) (475)
- Controversies and priorities in amyotrophic lateral sclerosis (2013) (462)
- Neurologic and neuropsychological morbidity following major surgery: comparison of coronary artery bypass and peripheral vascular surgery. (1987) (449)
- Oxidative stress in ALS: a mechanism of neurodegeneration and a therapeutic target. (2006) (447)
- Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis (2016) (424)
- Genome-wide Analyses Identify KIF5A as a Novel ALS Gene (2018) (414)
- ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B) (2006) (406)
- Familial amyotrophic lateral sclerosis-linked SOD1 mutants perturb fast axonal transport to reduce axonal mitochondria content. (2007) (390)
- Oxidative damage to protein in sporadic motor neuron disease spinal cord (1995) (354)
- Mitochondrial enzyme activity in amyotrophic lateral sclerosis: Implications for the role of mitochondria in neuronal cell death (1999) (331)
- Molecular and cellular pathways of neurodegeneration in motor neurone disease (2005) (330)
- The role of mitochondria in amyotrophic lateral sclerosis (2017) (316)
- Astrocyte phenotype in relation to Alzheimer-type pathology in the ageing brain (2010) (310)
- Update on the glutamatergic neurotransmitter system and the role of excitotoxicity in amyotrophic lateral sclerosis (2002) (309)
- The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy (2016) (295)
- Mitochondrial dysfunction in a cell culture model of familial amyotrophic lateral sclerosis. (2002) (288)
- Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. (2012) (288)
- Direct conversion of patient fibroblasts demonstrates non-cell autonomous toxicity of astrocytes to motor neurons in familial and sporadic ALS (2013) (287)
- Childhood reflux and urinary infection: a follow-up of 10–41 years in 226 adults (1998) (283)
- CSF and plasma amino acid levels in motor neuron disease: elevation of CSF glutamate in a subset of patients. (1995) (280)
- Early neurological complications of coronary artery bypass surgery. (1985) (279)
- Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model (2018) (276)
- Systemic Delivery of scAAV9 Expressing SMN Prolongs Survival in a Model of Spinal Muscular Atrophy (2010) (272)
- Parvalbumin and calbindin D‐28k in the human motor system and in motor neuron disease (1993) (271)
- Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions (2014) (264)
- Mutations in CHMP2B in Lower Motor Neuron Predominant Amyotrophic Lateral Sclerosis (ALS) (2010) (247)
- Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study (2010) (247)
- Amyotrophic lateral sclerosis: current issues in classification, pathogenesis and molecular pathology. (1998) (235)
- Phase 1-2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS. (2020) (227)
- Detection of long repeat expansions from PCR-free whole-genome sequence data (2016) (223)
- Noninvasive ventilation in ALS (2003) (223)
- Microarray Analysis of the Cellular Pathways Involved in the Adaptation to and Progression of Motor Neuron Injury in the SOD1 G93A Mouse Model of Familial ALS (2007) (215)
- Oxidative Stress and Motor Neurone Disease (1999) (214)
- The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder (2012) (213)
- Microglia as potential contributors to motor neuron injury in amyotrophic lateral sclerosis (2005) (208)
- Gene expression profiling in human neurodegenerative disease (2012) (198)
- Calcium‐permeable α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazole propionic acid receptors: A molecular determinant of selective vulnerability in amyotrophic lateral sclerosis (1997) (195)
- NEK1 variants confer susceptibility to amyotrophic lateral sclerosis (2016) (195)
- Mutant SOD1 alters the motor neuronal transcriptome: implications for familial ALS. (2005) (188)
- White matter lesions in an unselected cohort of the elderly: astrocytic, microglial and oligodendrocyte precursor cell responses (2007) (183)
- Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS) (1998) (181)
- Early intellectual dysfunction following coronary bypass surgery. (1986) (181)
- Genetics of Familial Amyotrophic Lateral Sclerosis (2012) (180)
- Neuronal dark matter: the emerging role of microRNAs in neurodegeneration (2013) (177)
- Convergent cholinergic activities in aging and Alzheimer's disease (1992) (170)
- Dysregulation of astrocyte-motoneuron cross-talk in mutant superoxide dismutase 1-related amyotrophic lateral sclerosis. (2011) (169)
- Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis (2017) (167)
- Astrocyte function and role in motor neuron disease: A future therapeutic target? (2009) (166)
- Long-term intellectual dysfunction following coronary artery bypass graft surgery: a six month follow-up study. (1987) (163)
- Microarray analysis of the astrocyte transcriptome in the aging brain: relationship to Alzheimer's pathology and APOE genotype (2011) (163)
- Molecular factors underlying selective vulnerability of motor neurons to neurodegeneration in amyotrophic lateral sclerosis (2009) (161)
- Diffusion tensor imaging for the assessment of upper motor neuron integrity in ALS (2004) (158)
- Amyotrophic Lateral Sclerosis Associated with Genetic Abnormalities in the Gene Encoding Cu/Zn Superoxide Dismutase: Molecular Pathology of Five New Cases, and Comparison with Previous Reports and 73 Sporadic Cases of ALS (1998) (158)
- Glutamate, excitotoxicity and amyotrophic lateral sclerosis (1997) (154)
- The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype (2014) (153)
- Molecular pathology and genetic advances in amyotrophic lateral sclerosis: an emerging molecular pathway and the significance of glial pathology (2011) (151)
- Erratum: Amyotrophic lateral sclerosis (Nature reviews. Disease primers (2017) 3 (17071)) (2017) (151)
- The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease (2015) (151)
- Respiratory function vs sleep-disordered breathing as predictors of QOL in ALS (2001) (149)
- Mechanisms, models and biomarkers in amyotrophic lateral sclerosis (2013) (148)
- Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis. (2010) (146)
- The microtubule-severing protein Spastin is essential for axon outgrowth in the zebrafish embryo. (2006) (143)
- The RNA of the glutamate transporter EAAT2 is variably spliced in amyotrophic lateral sclerosis and normal individuals (1999) (143)
- Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies) (2000) (142)
- Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis (2000) (140)
- The chromosome 9 ALS and FTD locus is probably derived from a single founder (2012) (139)
- ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN. (2013) (137)
- Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy (2015) (135)
- Hashimoto's encephalopathy: a steroid-responsive disorder associated with high anti-thyroid antibody titers--report of 5 cases. (1991) (135)
- Unravelling the enigma of selective vulnerability in neurodegeneration: motor neurons resistant to degeneration in ALS show distinct gene expression characteristics and decreased susceptibility to excitotoxicity (2012) (134)
- Mitochondrial involvement in amyotrophic lateral sclerosis (2002) (133)
- The expression of the glial glutamate transporter protein EAAT2 in motor neuron disease: an immunohistochemical study (1998) (133)
- Oligodendrocytes contribute to motor neuron death in ALS via SOD1-dependent mechanism (2016) (132)
- Familial amyotrophic lateral sclerosis with a mutation in exon 4 of the Cu/Zn superoxide dismutase gene: pathological and immunocytochemical changes (1996) (131)
- PTEN depletion rescues axonal growth defect and improves survival in SMN-deficient motor neurons. (2010) (129)
- Lithium in patients with amyotrophic lateral sclerosis (LiCALS): a phase 3 multicentre, randomised, double-blind, placebo-controlled trial (2013) (125)
- Direct evidence for axonal transport defects in a novel mouse model of mutant spastin‐induced hereditary spastic paraplegia (HSP) and human HSP patients (2009) (123)
- C9ORF72 interaction with cofilin modulates actin dynamics in motor neurons (2016) (122)
- Expression of the glial glutamate transporter EAAT2 in the human CNS: an immunohistochemical study. (1997) (122)
- Analysis of the Cytosolic Proteome in a Cell Culture Model of Familial Amyotrophic Lateral Sclerosis Reveals Alterations to the Proteasome, Antioxidant Defenses, and Nitric Oxide Synthetic Pathways* (2003) (121)
- A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis. (2014) (121)
- Clinical features of hereditary spastic paraplegia due to spastin mutation (2006) (119)
- LRP-1-mediated intracellular antibody delivery to the Central Nervous System (2015) (119)
- TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions (2014) (119)
- Hereditary spastic paraparesis: Disrupted intracellular transport associated with spastin mutation (2003) (119)
- The expression of neuronal voltage-dependent calcium channels in human cerebellum. (1995) (116)
- C9orf72 Expansion Disrupts ATM-mediated Chromosomal Break Repair (2017) (115)
- Microglial activation in white matter lesions and nonlesional white matter of ageing brains (2007) (115)
- An evaluation of neurophysiological criteria used in the diagnosis of motor neuron disease (2010) (113)
- A phase II−III trial of olesoxime in subjects with amyotrophic lateral sclerosis (2014) (107)
- Genetic correlation between amyotrophic lateral sclerosis and schizophrenia (2017) (107)
- Production of monocyte chemoattractant protein‐1 in amyotrophic lateral sclerosis (2005) (106)
- Rasch analysis of the hospital anxiety and depression scale (hads) for use in motor neurone disease (2011) (105)
- Iron, selenium and glutathione peroxidase activity are elevated in sporadic motor neuron disease (1994) (105)
- Physical activity as an exogenous risk factor in motor neuron disease (MND): A review of the evidence (2009) (104)
- The International Neuroblastoma Risk Groups (INRG): a preliminary report. (1997) (104)
- Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (2021) (104)
- Peroxynitrite and Hydrogen Peroxide Induced Cell Death in the NSC34 Neuroblastoma × Spinal Cord Cell Line: Role of Poly(ADP‐Ribose) Polymerase (1998) (103)
- A comparison of tetrazolium reduction and FDA hydrolysis with other measures of microbial activity (1990) (99)
- SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits (2017) (99)
- Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis (2019) (98)
- Neuro‐ophthalmological complications of coronary artery bypass graft surgery (1987) (97)
- Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis (2017) (97)
- Optimised and Rapid Pre-clinical Screening in the SOD1G93A Transgenic Mouse Model of Amyotrophic Lateral Sclerosis (ALS) (2011) (97)
- Population variation in oxidative stress and astrocyte DNA damage in relation to Alzheimer‐type pathology in the ageing brain (2010) (97)
- The El Escorial criteria: Strengths and weaknesses (2015) (97)
- Serum miRNAs miR-206, 143-3p and 374b-5p as potential biomarkers for amyotrophic lateral sclerosis (ALS) (2017) (97)
- Excitotoxicity and motor neurone disease: A review of the evidence (1994) (96)
- Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis (2010) (96)
- Expression of Vascular Endothelial Growth Factor and Its Receptors in the Central Nervous System in Amyotrophic Lateral Sclerosis (2006) (93)
- Loss of nuclear TDP‐43 in amyotrophic lateral sclerosis (ALS) causes altered expression of splicing machinery and widespread dysregulation of RNA splicing in motor neurones (2014) (92)
- Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England (2001) (90)
- C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis (2015) (89)
- An in vitro screening cascade to identify neuroprotective antioxidants in ALS (2009) (89)
- The Cellular and Molecular Pathology of the Motor System in Hereditary Spastic Paraparesis due to Mutation of the Spastin Gene (2003) (89)
- Alterations in the blood brain barrier in ageing cerebral cortex in relationship to Alzheimer-type pathology: A study in the MRC-CFAS population neuropathology cohort (2011) (87)
- Selective loss of neurofilament expression in Cu/Zn superoxide dismutase (SOD1) linked amyotrophic lateral sclerosis (2002) (85)
- The quantitative autoradiographic distribution of [3H]MK-801 binding sites in the normal human spinal cord (1991) (85)
- An analysis of factors predisposing to neurological injury in patients undergoing coronary bypass operations. (1989) (84)
- Apoptosis in amyotrophic lateral sclerosis—what is the evidence? (2005) (83)
- Mood disturbances in motor neurone disease (1998) (82)
- Meta-analysis of vascular endothelial growth factor variations in amyotrophic lateral sclerosis: increased susceptibility in male carriers of the −2578AA genotype (2008) (82)
- Roadmap and standard operating procedures for biobanking and discovery of neurochemical markers in ALS (2012) (82)
- The natural history of motor neuron disease: Assessing the impact of specialist care (2013) (80)
- Phosphatase and tensin homologue/protein kinase B pathway linked to motor neuron survival in human superoxide dismutase 1-related amyotrophic lateral sclerosis (2011) (80)
- Review: The role of mitochondria in the pathogenesis of amyotrophic lateral sclerosis (2011) (80)
- Early Interneuron Dysfunction in ALS: Insights from a Mutant sod1 Zebrafish Model (2012) (80)
- Diagnosis and management of motor neurone disease (2008) (80)
- Multicenter validation of CSF neurofilaments as diagnostic biomarkers for ALS (2016) (80)
- Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein (2019) (80)
- Use of clinical staging in amyotrophic lateral sclerosis for phase 3 clinical trials (2014) (78)
- Safety and efficacy of diaphragm pacing in patients with respiratory insufficiency due to amyotrophic lateral sclerosis (DiPALS): a multicentre, open-label, randomised controlled trial (2015) (78)
- A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS (2009) (77)
- Alterations of the blood–brain barrier in cerebral white matter lesions in the ageing brain (2010) (76)
- Differential Localization of Voltage-Dependent Calcium Channel α1 Subunits at the Human and Rat Neuromuscular Junction (1997) (76)
- Non-invasive ventilation in motor neuron disease: an update of current UK practice (2011) (75)
- Small RNA Sequencing of Sporadic Amyotrophic Lateral Sclerosis Cerebrospinal Fluid Reveals Differentially Expressed miRNAs Related to Neural and Glial Activity (2018) (75)
- Thalamic neuronal dysfunction and chronic sensorimotor distal symmetrical polyneuropathy in patients with type 1 diabetes mellitus (2008) (75)
- Microarray RNA Expression Analysis of Cerebral White Matter Lesions Reveals Changes in Multiple Functional Pathways (2009) (75)
- Oxidative damage and motor neurone disease difficulties in the measurement of protein carbonyls in human brain tissue. (1996) (75)
- Transcriptomic indices of fast and slow disease progression in two mouse models of amyotrophic lateral sclerosis. (2013) (75)
- Conservative treatment of delayed cerebral radiation necrosis. (1984) (74)
- Superoxide dismutase 1 mutation in a cellular model of amyotrophic lateral sclerosis shifts energy generation from oxidative phosphorylation to glycolysis (2014) (73)
- Pattern of spread and prognosis in lower limb-onset ALS (2010) (69)
- Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials (2017) (69)
- Biomarkers in Motor Neuron Disease: A State of the Art Review (2019) (68)
- A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK (2017) (67)
- Low expression of GluR2 AMPA receptor subunit protein by human motor neurons. (1999) (67)
- Distribution ofα1A, α1B andα1E voltage-dependent calcium channel subunits in the human hippocampus and parahippocampal gyrus (1996) (67)
- Multicentre quality control evaluation of different biomarker candidates for amyotrophic lateral sclerosis (2014) (66)
- Amyotrophic lateral sclerosis (2017) (66)
- ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation (2013) (65)
- Astrocyte adenosine deaminase loss increases motor neuron toxicity in amyotrophic lateral sclerosis (2019) (64)
- Differences in protein quality control correlate with phenotype variability in 2 mouse models of familial amyotrophic lateral sclerosis (2015) (63)
- Gene expression signatures in motor neurone disease fibroblasts reveal dysregulation of metabolism, hypoxia-response and RNA processing functions (2015) (63)
- Calcium-permeable alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid receptors: a molecular determinant of selective vulnerability in amyotrophic lateral sclerosis. (1997) (63)
- [3H]d-aspartate binding sites in the normal human spinal cord and changes in motor neuron disease: a quantitative autoradiographic study (1994) (61)
- Amyotrophic lateral sclerosis: a consensus viewpoint on designing and implementing a clinical trial (2004) (61)
- Glial Proliferation and Metabotropic Glutamate Receptor Expression in Amyotrophic Lateral Sclerosis (2004) (61)
- Population Variation in Glial Fibrillary Acidic Protein Levels in Brain Ageing: Relationship to Alzheimer-Type Pathology and Dementia (2009) (61)
- Motor neurone disease: a practical update on diagnosis and management. (2010) (60)
- ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function (2018) (60)
- Impairment of mitochondrial anti-oxidant defence in SOD1-related motor neuron injury and amelioration by ebselen. (2006) (59)
- Cu/Zn superoxide dismutase (SOD1) mutations associated with familial amyotrophic lateral sclerosis (ALS) affect cellular free radical release in the presence of oxidative stress. (2002) (58)
- Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis. (2016) (58)
- C9orf72 intermediate expansions of 24–30 repeats are associated with ALS (2019) (58)
- Protein Homeostasis in Amyotrophic Lateral Sclerosis: Therapeutic Opportunities? (2017) (57)
- Concurrence of multiple sclerosis and amyotrophic lateral sclerosis in patients with hexanucleotide repeat expansions of C9ORF72 (2012) (57)
- C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: A genome‐wide meta‐analysis (2014) (56)
- A new zebrafish model produced by TILLING of SOD1-related amyotrophic lateral sclerosis replicates key features of the disease and represents a tool for in vivo therapeutic screening (2013) (56)
- Ursodeoxycholic Acid Improves Mitochondrial Function and Redistributes Drp1 in Fibroblasts from Patients with Either Sporadic or Familial Alzheimer's Disease (2018) (56)
- Gastrostomy use in motor neurone disease (MND): A review, meta-analysis and survey of current practice (2013) (56)
- Motor neuron disease in a patient with a mitochondrial tRNAIle mutation (2006) (56)
- Vascular endothelial growth factor counteracts the loss of phospho‐Akt preceding motor neurone degeneration in amyotrophic lateral sclerosis (2007) (56)
- Becker muscular dystrophy with onset after 60 years (1994) (56)
- Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome (2020) (55)
- Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient. (1994) (55)
- Neurological complications of coronary artery bypass graft surgery: six month follow-up study. (1986) (55)
- Neuroblastoma with intracranial involvement: an ENSG Study. (1992) (55)
- PTEN Depletion Decreases Disease Severity and Modestly Prolongs Survival in a Mouse Model of Spinal Muscular Atrophy (2014) (54)
- Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation (2013) (54)
- Permanent external striated sphincter stents in patients with spinal injuries. (1990) (54)
- C9ORF72 expansions, parkinsonism, and Parkinson disease (2013) (54)
- Differentiation of human adipose-derived stem cells into neuron/motoneuron-like cells for cell replacement therapy of spinal cord injury (2019) (53)
- Mutations in CHMP 2 B in Lower Motor Neuron Predominant Amyotrophic Lateral Sclerosis ( ALS ) (2010) (52)
- Value of systematic genetic screening of patients with amyotrophic lateral sclerosis (2021) (52)
- Immune response in peripheral axons delays disease progression in SOD1G93A mice (2016) (52)
- S[+] Apomorphine is a CNS penetrating activator of the Nrf2-ARE pathway with activity in mouse and patient fibroblast models of amyotrophic lateral sclerosis☆ (2013) (51)
- Comparison of the King’s and MiToS staging systems for ALS (2017) (51)
- The nuclear retention of transcription factor FOXO3a correlates with a DNA damage response and increased glutamine synthetase expression by astrocytes suggesting a neuroprotective role in the ageing brain (2015) (51)
- DiPALS: Diaphragm Pacing in patients with Amyotrophic Lateral Sclerosis - a randomised controlled trial. (2016) (51)
- Excitatory amino acid receptors, excitotoxicity, and the human nervous system. (1993) (51)
- The expression of the glutamate re-uptake transporter excitatory amino acid transporter 1 (EAAT1) in the normal human CNS and in motor neurone disease: an immunohistochemical study (2002) (51)
- Nonverbal visual attention, but not recognition memory or learning, processes are impaired in motor neurone disease (1996) (50)
- Motor neurone disease (1999) (50)
- ALS: life and death in a bad neighborhood (2006) (49)
- A data-driven approach links microglia to pathology and prognosis in amyotrophic lateral sclerosis (2017) (48)
- Glial Cells of the Spinal Cord and Subcortical White Matter Up-regulate Neuronal Nitric Oxide Synthase in Sporadic Amyotrophic Lateral Sclerosis (2001) (48)
- The use of non-invasive ventilation at end of life in patients with motor neurone disease: A qualitative exploration of family carer and health professional experiences (2013) (47)
- Effect of lipid profile on prognosis in the patients with amyotrophic lateral sclerosis: Insights from the olesoxime clinical trial (2015) (47)
- A preliminary randomized trial of the mechanical insufflator-exsufflator versus breath-stacking technique in patients with amyotrophic lateral sclerosis (2015) (46)
- The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis (2015) (46)
- Immunocytochemical study of the distribution of the free radical scavenging enzymes CU/ZN superoxide dismutase (SOD1); MN superoxide dismutase (MN SOD) and catalase in the normal human spinal cord and in motor neuron disease (1997) (46)
- Mutations in the Glycosyltransferase Domain of GLT8D1 Are Associated with Familial Amyotrophic Lateral Sclerosis (2019) (45)
- AN IMMUNOCYTOCHEMICAL STUDY OF THE DISTRIBUTION OF AMPA SELECTIVE GLUTAMATE RECEPTOR SUBUNITS IN THE NORMAL HUMAN MOTOR SYSTEM (1996) (45)
- Demyelinating neuropathy due to primary IgM kappa B cell lymphoma of peripheral nerve (1987) (45)
- The Effect of SOD1 Mutation on Cellular Bioenergetic Profile and Viability in Response to Oxidative Stress and Influence of Mutation-Type (2013) (44)
- Advances, challenges and future directions for stem cell therapy in amyotrophic lateral sclerosis (2017) (44)
- Transcriptional response of the neuromuscular system to exercise training and potential implications for ALS (2009) (44)
- C9orf72 expansion within astrocytes reduces metabolic flexibility in amyotrophic lateral sclerosis (2019) (44)
- Intracranial extension of orbital pseudotumour. (1992) (44)
- Disrupted glycosylation of lipids and proteins is a cause of neurodegeneration (2019) (44)
- Calcium dysregulation in relation to Alzheimer‐type pathology in the ageing brain (2013) (43)
- Viral Delivery of Antioxidant Genes as a Therapeutic Strategy in Experimental Models of Amyotrophic Lateral Sclerosis (2013) (43)
- Long-term physical activity: an exogenous risk factor for sporadic amyotrophic lateral sclerosis? (2016) (43)
- Stable transgenic C9orf72 zebrafish model key aspects of the ALS/FTD phenotype and reveal novel pathological features (2018) (43)
- New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP) (2009) (43)
- Invited Review: Decoding the pathophysiological mechanisms that underlie RNA dysregulation in neurodegenerative disorders: a review of the current state of the art (2015) (42)
- Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS. (2022) (42)
- Motor Neuron Disorders (2018) (42)
- Quantitative Study of Synaptophysin Immunoreactivity of Cerebral Cortex and Spinal Cord in Motor Neuron Disease (1995) (41)
- 99mTc dimercaptosuccinic acid (DMSA) scan in patients with established radiological renal scarring. (1988) (41)
- Physical exercise is a risk factor for amyotrophic lateral sclerosis: Convergent evidence from Mendelian randomisation, transcriptomics and risk genotypes (2020) (41)
- A neuronal DNA damage response is detected at the earliest stages of Alzheimer's neuropathology and correlates with cognitive impairment in the Medical Research Council's Cognitive Function and Ageing Study ageing brain cohort (2015) (41)
- Creatine kinase enzyme level correlates positively with serum creatinine and lean body mass, and is a prognostic factor for survival in amyotrophic lateral sclerosis (2016) (41)
- Large-scale pathways-based association study in amyotrophic lateral sclerosis. (2007) (41)
- Genetic inroads in familial ALS (2001) (41)
- The impact of gastrostomy in motor neurone disease: challenges and benefits from a patient and carer perspective (2014) (40)
- Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis (2020) (40)
- Factors influencing decision-making in relation to timing of gastrostomy insertion in patients with motor neurone disease (2013) (40)
- A Reduced Astrocyte Response to β-Amyloid Plaques in the Ageing Brain Associates with Cognitive Impairment (2015) (40)
- Distribution of AMPA-selective glutamate receptor subunits in the human hippocampus and cerebellum. (1995) (40)
- Oligogenic inheritance of optineurin (OPTN) and C9ORF72 mutations in ALS highlights localisation of OPTN in the TDP‐43‐negative inclusions of C9ORF72‐ALS (2016) (39)
- Kennedy's disease: Unusual molecular pathologic and clinical features (1998) (39)
- Stiff-man syndrome and its variants (1999) (39)
- Mutant SOD1 G93A microglia have an inflammatory phenotype and elevated production of MCP-1 (2009) (38)
- The TiM system: developing a novel telehealth service to improve access to specialist care in motor neurone disease using user-centered design (2018) (38)
- Lysosomal and phagocytic activity is increased in astrocytes during disease progression in the SOD1 G93A mouse model of amyotrophic lateral sclerosis (2015) (38)
- Altered age-related changes in bioenergetic properties and mitochondrial morphology in fibroblasts from sporadic amyotrophic lateral sclerosis patients (2015) (38)
- Thyroid disease and the nervous system. (2014) (38)
- Mutation screening of manganese superoxide dismutase in amyotrophic lateral sclerosis (2001) (38)
- Non-NMDA receptors in motor neuron disease (MND): a quantitative autoradiographic study in spinal cord and motor cortex using [3H]CNQX and [3H]kainate (1994) (38)
- TDP-43 induces p53-mediated cell death of cortical progenitors and immature neurons (2018) (37)
- Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations (2018) (37)
- Neutron activation analysis of trace elements in motor neuron disease spinal cord. (1995) (36)
- Superoxide-induced nitric oxide release from cultured glial cells (2001) (36)
- An Evaluation of a SVA Retrotransposon in the FUS Promoter as a Transcriptional Regulator and Its Association to ALS (2014) (36)
- Tardbpl splicing rescues motor neuron and axonal development in a mutant tardbp zebrafish (2013) (36)
- July 2017 ENCALS statement on edaravone (2017) (36)
- Using technology to improve access to specialist care in amyotrophic lateral sclerosis: A systematic review (2016) (36)
- Downregulation of genes with a function in axon outgrowth and synapse formation in motor neurones of the VEGFδ/δ mouse model of amyotrophic lateral sclerosis (2010) (36)
- Screening of AP endonuclease as a candidate gene for amyotrophic lateral sclerosis (ALS) (2000) (35)
- Characterization of the caspase cascade in a cell culture model of SOD1‐related familial amyotrophic lateral sclerosis: expression, activation and therapeutic effects of inhibition (2005) (34)
- C9orf72 expansion differentially affects males with spinal onset amyotrophic lateral sclerosis (2016) (34)
- Complicated migraine resulting in blindness due to bilateral retinal infarction. (1992) (34)
- The impact of fatigue and psychosocial variables on quality of life for patients with motor neuron disease (2013) (34)
- Differential gene expression in a cell culture model of SOD1-related familial motor neurone disease. (2002) (34)
- Urological outcome in female patients with spinal cord injury: the effectiveness of intermittent catheterisation (1990) (33)
- Cauda equina syndrome associated with multiple lumbar arachnoid cysts in ankylosing spondylitis: improvement following surgical therapy. (1990) (33)
- Translating SOD1 Gene Silencing toward the Clinic: A Highly Efficacious, Off-Target-free, and Biomarker-Supported Strategy for fALS (2018) (32)
- Current developments in gene therapy for amyotrophic lateral sclerosis (2015) (32)
- C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles (2013) (32)
- CNS tissue Cu/Zn superoxide dismutase (SOD1) mutations in motor neurone disease (MND) (1997) (32)
- Management of the neuropathic bladder by suprapubic catheterisation. (1993) (32)
- N-methyl-d-aspartate (NMDA) receptors in the spinal cord and motor cortex in motor neuron disease: a quantitative autoradiographic study using [3H]MK-801 (1994) (32)
- Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis (2020) (31)
- Poly(ADP–ribose) polymerase is found in both the nucleus and cytoplasm of human CNS neurons (1999) (31)
- Parkinsonism in motor neuron disease: case report and literature review (2004) (31)
- Development of a patient reported outcome measure for fatigue in motor neurone disease: the Neurological Fatigue Index (NFI-MND) (2011) (31)
- Progressive deterioration of intellect and motor function occurring several decades after cranial irradiation. A new facet in the clinical spectrum of radiation encephalopathy. (1996) (31)
- Mitochondrial Dysfunction in Alzheimer’s Disease: A Biomarker of the Future? (2021) (31)
- Excitatory amino acid neurotransmission, excitotoxicity and excitotoxins. (1992) (31)
- The initiation of non-invasive ventilation for patients with motor neuron disease: Patient and carer perceptions of obstacles and outcomes (2013) (30)
- Comparison of Blood RNA Extraction Methods Used for Gene Expression Profiling in Amyotrophic Lateral Sclerosis (2014) (30)
- The gut microbiome: a key player in the complexity of amyotrophic lateral sclerosis (ALS) (2021) (30)
- Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias (2018) (29)
- Head-Up; An interdisciplinary, participatory and co-design process informing the development of a novel head and neck support for people living with progressive neck muscle weakness (2015) (29)
- Validation of the historical adulthood physical activity questionnaire (HAPAQ) against objective measurements of physical activity (2010) (29)
- Expression of nitric oxide synthase isoforms in spinal cord in amyotrophic lateral sclerosis (2000) (29)
- Autoradiographic distribution of binding sites for the non-NMDA receptor antagonist [3H]CNQX in human motor cortex, brainstem and spinal cord (1993) (29)
- ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization (2020) (28)
- Health utility decreases with increasing clinical stage in amyotrophic lateral sclerosis (2014) (28)
- DNA damage response and senescence in endothelial cells of human cerebral cortex and relation to Alzheimer's neuropathology progression: a population‐based study in the Medical Research Council Cognitive Function and Ageing Study (MRC‐CFAS) cohort (2014) (28)
- The distribution of excitatory amino acid receptors in the normal human midbrain and basal ganglia with implications for Parkinson's disease: a quantitative autoradiographic study using [3H]MK-801, [3H]glycine, [3H]CNQX and [3H]kainate (1994) (28)
- No association with common Caucasian genotypes in exons 8, 13 and 14 of the human cytoplasmic dynein heavy chain gene (DNCHC1) and familial motor neuron disorders (2003) (28)
- Neuronal DNA damage response‐associated dysregulation of signalling pathways and cholesterol metabolism at the earliest stages of Alzheimer‐type pathology (2015) (28)
- The antemortem diagnosis of pyogenic liver abscess due to perforation of the gut by a foreign body. (1983) (28)
- Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis (2021) (27)
- Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis (2021) (27)
- Imaging muscle as a potential biomarker of denervation in motor neuron disease (2017) (27)
- A multicentre evaluation of oropharyngeal secretion management practices in amyotrophic lateral sclerosis (2017) (27)
- Distribution of alpha 1A, alpha 1B and alpha 1E voltage-dependent calcium channel subunits in the human hippocampus and parahippocampal gyrus. (1996) (27)
- Investigation of mitochondrial function in hereditary spastic paraparesis (2003) (27)
- C9orf72 and UNC13A are shared risk loci for ALS and FTD: A genome-wide meta-analysis (2014) (26)
- Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis (2016) (26)
- The quantitative autoradiographic distribution of [3H]MK-801 binding sites in the normal human brainstem in relation to motor neuron disease (1992) (26)
- Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat (2013) (26)
- Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (2021) (26)
- Ifosfamide in paediatric oncology: tried but not tested? (1990) (25)
- Oligodendrocyte pathology exceeds axonal pathology in white matter in human amyotrophic lateral sclerosis (2020) (25)
- HSP60 IS A RARE CAUSE OF HEREDITARY SPASTIC PARAPARESIS, BUT MAY ACT AS A GENETIC MODIFIER (2008) (25)
- CuZn-Superoxide Dismutase in D90A Heterozygotes from Recessive and Dominant ALS Pedigrees (2002) (25)
- H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis (2013) (25)
- PTEN regulates AMPA receptor-mediated cell viability in iPS-derived motor neurons (2014) (25)
- Repeated 5-day cycles of low dose aldesleukin in amyotrophic lateral sclerosis (IMODALS): A phase 2a randomised, double-blind, placebo-controlled trial (2020) (25)
- ZNStress: a high-throughput drug screening protocol for identification of compounds modulating neuronal stress in the transgenic mutant sod1G93R zebrafish model of amyotrophic lateral sclerosis (2016) (25)
- 40th EASD Annual Meeting of the European Association for the Study of Diabetes (2004) (25)
- A comparison of in vitro properties of resting SOD1 transgenic microglia reveals evidence of reduced neuroprotective function (2011) (24)
- Using transcutaneous carbon dioxide monitor (TOSCA 500) to detect respiratory failure in patients with amyotrophic lateral sclerosis: A validation study (2012) (24)
- Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype (2017) (24)
- Autoradiographic comparison of the distribution of [3H]MK801 and [3H]CNQX in the human cerebellum during development and aging (1993) (24)
- C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten (2017) (24)
- Evaluating a novel cervical orthosis, the Sheffield Support Snood, in patients with amyotrophic lateral sclerosis/motor neuron disease with neck weakness (2016) (23)
- The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients (2015) (23)
- Directly converted astrocytes retain the ageing features of the donor fibroblasts and elucidate the astrocytic contribution to human CNS health and disease (2020) (23)
- Reconsidering the causality of TIA1 mutations in ALS (2018) (23)
- The expression of voltage-dependent calcium channel beta subunits in human hippocampus. (1998) (23)
- Viral delivery of C9orf72 hexanucleotide repeat expansions in mice leads to repeat-length-dependent neuropathology and behavioural deficits (2017) (23)
- Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene (2020) (22)
- Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene (2020) (22)
- Investigating cell death mechanisms in amyotrophic lateral sclerosis using transcriptomics (2013) (22)
- Chronic periphlebitis retinae in multiple sclerosis A histopathological study (1987) (22)
- Amyotrophic lateral sclerosis (2022) (22)
- Serotonergic neurotransmission in the spinal cord and motor cortex of patients with motor neuron disease and controls: quantitative autoradiography for 5-HT1a and 5-HT2 receptors (1996) (22)
- Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders (2021) (22)
- Management of sialorrhoea in motor neuron disease: A survey of current UK practice (2013) (22)
- Hyperthyroidism presenting as pyramidal tract disease. (1988) (22)
- Motor neuron disorders and related diseases (2007) (22)
- Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology (2019) (21)
- CHCHD10 variants in amyotrophic lateral sclerosis: Where is the evidence? (2018) (21)
- Using telehealth in motor neuron disease to increase access to specialist multidisciplinary care: a UK-based pilot and feasibility study (2019) (21)
- Respiratory management of motor neurone disease: a review of current practice and new developments (2012) (21)
- Assessment of the Sheffield Support Snood, an innovative cervical orthosis designed for people affected by neck muscle weakness. (2016) (21)
- Clinical aspects of motor neurone disease (2008) (21)
- Changes in bladder function following a surgical alteration in outflow resistance (1990) (21)
- A genome-wide association meta-analysis identifies a novel locus at 17 q 11 . 2 associated with sporadic amyotrophic lateral sclerosis (2014) (21)
- Toxicity of CSF in motor neurone disease: a potential route to neuroprotection. (2002) (21)
- Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort (2019) (21)
- The impact on the family carer of motor neurone disease and intervention with noninvasive ventilation. (2013) (20)
- Clinical and Molecular Aspects of Motor Neuron Disease (2013) (20)
- Brown-Vialetto-Van Laere syndrome: Case report and literature review (2000) (20)
- Embryonic stem cells and prospects for their use in regenerative medicine approaches to motor neurone disease (2007) (19)
- Calcium, glutamate, and amyotrophic lateral sclerosis: More evidence but no certainties (1999) (19)
- Oral levosimendan in amyotrophic lateral sclerosis: a phase II multicentre, randomised, double-blind, placebo-controlled trial (2019) (19)
- Protocol for a double-blind randomised placebo-controlled trial of lithium carbonate in patients with amyotrophic Lateral Sclerosis (LiCALS) [Eudract number: 2008-006891-31] (2011) (19)
- Gene expression &Assays (2001) (19)
- Critical design considerations for time-to-event endpoints in amyotrophic lateral sclerosis clinical trials (2019) (19)
- A quantitative autoradiographic study of [3H]kainate binding sites in the normal human spinal cord, brainstem and motor cortex (1994) (19)
- Process evaluation and exploration of telehealth in motor neuron disease in a UK specialist centre (2019) (19)
- “Anything that makes life’s journey better.” Exploring the use of digital technology by people living with motor neurone disease (2017) (19)
- Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS (2022) (18)
- MicroNeurotrophins Improve Survival in Motor Neuron-Astrocyte Co-Cultures but Do Not Improve Disease Phenotypes in a Mutant SOD1 Mouse Model of Amyotrophic Lateral Sclerosis (2016) (18)
- Serum and cerebrospinal fluid biochemical markers of ALS (2000) (18)
- Screening of the transcriptional regulatory regions of vascular endothelial growth factor receptor 2 (VEGFR2) in amyotrophic lateral sclerosis (2007) (18)
- Stratified gene expression analysis identifies major amyotrophic lateral sclerosis genes (2015) (18)
- Screening of the regulatory and coding regions of vascular endothelial growth factor in amyotrophic lateral sclerosis (2005) (18)
- Correlation of bacteriological flora of the urethra, glans and perineum with organisms causing urinary tract infection in the spinal injured male patient (1992) (17)
- with sporadic amyotrophic lateral sclerosis (2013) (17)
- Lack of unique neuropathology in amyotrophic lateral sclerosis associated with p.K54E angiogenin (ANG) mutation (2012) (17)
- Familial lysinuric protein intolerance presenting as coma in two adult siblings. (1989) (17)
- Gene expression assays. (2007) (17)
- Deficits in Mitochondrial Spare Respiratory Capacity Contribute to the Neuropsychological Changes of Alzheimer’s Disease (2020) (17)
- Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis (2022) (16)
- Case report: ultrasonographic demonstration of portal vein thrombosis in the acute abdomen. (1986) (16)
- The incidence and nature of neurological morbidity following cardiac surgery: a review (1989) (16)
- Evaluation of two different methods for per-oral gastrostomy tube placement in patients with motor neuron disease (MND): PIG versus PEG procedures (2010) (16)
- A neurological rarity not to be missed: cerebrotendinous xanthomatosis (2011) (16)
- Telomere length is greater in ALS than in controls: a whole genome sequencing study (2019) (15)
- Needs and preferences for psychological interventions of people with motor neuron disease (2019) (15)
- EXPRESSION OF DONOR ALLERGIC RESPONSE PATTERNS BY BONE MARROW TRANSPLANT RECIPIENTS (1984) (15)
- Selective loss of neurofilament proteins after exposure of differentiated human IMR-32 neuroblastoma cells to oxidative stress (1996) (15)
- Magnetic resonance spectroscopy reveals mitochondrial dysfunction in amyotrophic lateral sclerosis. (2020) (15)
- Homozygosity analysis in amyotrophic lateral sclerosis (2013) (14)
- Diagnosis of spinal xanthomatosis by next-generation sequencing: identifying a rare, treatable mimic of hereditary spastic paraparesis (2015) (14)
- Spastin and paraplegin gene analysis in selected cases of motor neurone disease (MND) (2003) (14)
- The use of subcutaneous glycopyrrolate in the management of sialorrhoea and facilitating the use of non-invasive ventilation in amyotrophic lateral sclerosis (2011) (14)
- The involvement of regulatory T cells in amyotrophic lateral sclerosis and their therapeutic potential (2020) (14)
- Differential expression of mGluR5 in human lumbosacral motoneurons (2004) (14)
- Early Detection of Motor Dysfunction in the SOD1G93A Mouse Model of Amyotrophic Lateral Sclerosis (ALS) Using Home Cage Running Wheels (2014) (14)
- Adult‐onset motor neuron disease and infantile Werdnig‐Hoffmann disease (spinal muscular atrophy type 1) in the same family (1992) (14)
- Type 2 diabetes mellitus-associated transcriptome alterations in cortical neurones and associated neurovascular unit cells in the ageing brain (2021) (14)
- Mitochondrial DNA haplogroups and amyotrophic lateral sclerosis (2006) (13)
- The changing landscape of non-invasive ventilation in amyotrophic lateral sclerosis (2012) (13)
- Brachial diplegia as a sequel to cardio-respiratory arrest: 'man-in-the-barrel syndrome'. (1990) (13)
- NRF2 as a therapeutic opportunity to impact in the molecular roadmap of ALS. (2021) (13)
- Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia (2019) (13)
- Expression of nitric oxide synthase in the spinal cord in amyotrophic lateral sclerosis (1998) (12)
- Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause (2007) (12)
- TDP43 proteinopathy is associated with aberrant DNA methylation in human amyotrophic lateral sclerosis (2020) (12)
- A zebrafish model exemplifies the long preclinical period of motor neuron disease (2014) (12)
- Fulminant encephalopathy due to the catastrophic primary antiphospholipid syndrome. (1997) (12)
- Neurological Complications of Cardiovascular Surgery: II. Procedures Involving the Heart and Thoracic Aorta (1986) (12)
- Glutamine synthetase activity and expression are not affected by the development of motor neuronopathy in the G93A SOD-1/ALS mouse. (2001) (12)
- A prospective pilot study measuring muscle volumetric change in amyotrophic lateral sclerosis (2013) (11)
- Trans-trigonal phenol failed the test of time. (1990) (11)
- LEUKAEMIC RELAPSE ASSOCIATED WITH PHENOTYPIC CHANGE AFTER CAMPATH-1 PURGED AUTOLOGOUS BONE MARROW TRANSPLANTATION (1986) (11)
- Longitudinal multi-modal muscle-based biomarker assessment in motor neuron disease (2019) (11)
- Biomarkers in amyotrophic lateral sclerosis: a review of new developments (2020) (11)
- Amyotrophic lateral sclerosis: a neurodegenerative disorder poised for successful therapeutic translation (2022) (11)
- Multi-dimensional electrical impedance myography of the tongue as a potential biomarker for amyotrophic lateral sclerosis (2020) (11)
- Detection of mutations in whole genome-amplified DNA from laser-microdissected neurons (2005) (10)
- Cross-reactive probes on Illumina DNA methylation arrays: a large study on ALS shows that a cautionary approach is warranted in interpreting epigenome-wide association studies (2020) (10)
- Cytoplasmic, lysosomal and matrix protease activities in spinal cord tissue from amyotrophic lateral sclerosis (ALS) and control patients (1996) (10)
- Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3′UTR protect against ALS (2022) (10)
- MUTATIONS IN VAPB ARE NOT ASSOCIATED WITH SPORADIC ALS (2007) (10)
- Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration (2014) (10)
- Intermediate length C9orf72 expansion in an ALS patient without classical C9orf72 neuropathology (2015) (10)
- ■ Real-time measurement of free radical production using specific electrochemical sensors: new insight into the consequences of O 2 - and NO flux (2000) (10)
- Proteinopathies as Hallmarks of Impaired Gene Expression, Proteostasis and Mitochondrial Function in Amyotrophic Lateral Sclerosis (2021) (9)
- UK case control study of smoking and risk of amyotrophic lateral sclerosis (2020) (9)
- Neuropathological characterization of a novel TANK binding kinase (TBK1) gene loss of function mutation associated with amyotrophic lateral sclerosis (2020) (9)
- Protocol for diaphragm pacing in patients with respiratory muscle weakness due to motor neurone disease (DiPALS): a randomised controlled trial (2012) (9)
- Lower motor neuron degeneration and familial predisposition to colonic neoplasia in two adult siblings. (1991) (9)
- Immune response in peripheral axons delays disease progression in SOD 1 G 93 A mice Journal of Neuroinflammation (2016) (9)
- An Objective Functional Characterisation of Head Movement Impairment in Individuals with Neck Muscle Weakness Due to Amyotrophic Lateral Sclerosis (2017) (9)
- Amyotrophic lateral sclerosis alters the metabolic aging profile in patient derived fibroblasts (2021) (9)
- Establishing the UK DNA Bank for motor neuron disease (MND) (2015) (8)
- Ultrasound and CT in renal parenchymal malakoplakia: report of a case with previous xanthogranulomatous pyelonephritis. (1985) (8)
- Assessing social isolation in motor neurone disease: A Rasch analysis of the MND Social Withdrawal Scale☆ (2013) (8)
- Transient hyperphosphatasaemia. (1985) (8)
- Motor neurone disease/amyotrophic lateral sclerosis associated with intermediate‐length CAG repeat expansions in Ataxin‐2 does not have 1C2‐positive polyglutamine inclusions (2016) (8)
- Does the Kaufman prosthesis still have a place? Review of thirteen years' experience. (1991) (8)
- Oxidative stress in ALS (2007) (8)
- Developing an outcome measure for excessive saliva management in MND and an evaluation of saliva burden in Sheffield (2015) (8)
- Can Astrocytes Be a Target for Precision Medicine? (2017) (8)
- Mechanisms of cell death and treatment prospects in motor neuron disease. (2001) (7)
- Extensive phenotypic characterisation of a human TDP-43Q331K transgenic mouse model of amyotrophic lateral sclerosis (ALS) (2021) (7)
- The intellectual function of patients after coronary bypass surgery (1992) (7)
- Membrane lipid raft homeostasis is directly linked to neurodegeneration (2021) (7)
- Isolated necrotizing granulomatous vasculitis of the epididymis and spermatic cords (2004) (7)
- Microarray analysis of the astrocyte transcriptome in the aging brain: Relationship to Alzheimer's pathology and APOE genotype (2011) (7)
- Cultured glial cells are resistant to the effects of motor neurone disease-associated SOD1 mutations (2001) (7)
- Induction toxicity in childhood acute lymphoblastic leukemia: a comparison of two schedules of daunorubicin administration. (1995) (7)
- Adipose-derived stem cells protect motor neurons and reduce glial activation in both in vitro and in vivo models of ALS (2021) (6)
- Association of a Locus in the CAMTA 1 GeneWith Survival in PatientsWith Sporadic Amyotrophic Lateral Sclerosis (2016) (6)
- Neurotoxic Astrocytes Directly Converted from Sporadic and Familial ALS Patient Fibroblasts Reveal Signature Diversities and miR-146a Theragnostic Potential in Specific Subtypes (2022) (6)
- In Vivo Fiber Optic Raman Spectroscopy of Muscle in Preclinical Models of Amyotrophic Lateral Sclerosis and Duchenne Muscular Dystrophy (2021) (6)
- PNEUMOCOCCAL INFECTION IN A MOTHER AND INFANT (1984) (6)
- Motor neuron disease (2002) (6)
- Innovating Clinical Trials for Amyotrophic Lateral Sclerosis Challenging the Established Order (6)
- Modelling and analysis of electrical impedance myography of the lateral tongue (2020) (5)
- Axonal Preservation in Deep Subcortical White Matter Lesions in the Ageing Brain (2014) (5)
- Neurological Dysfunction following Coronary Artery Bypass Graft Surgery (1986) (5)
- Chapter 17 Hereditary spastic paraparesis. (2007) (5)
- Amyotrophic lateral sclerosis transcriptomics reveals immunological effects of low-dose interleukin-2 (2021) (5)
- The role of cranial and thoracic electromyography within diagnostic criteria for amyotrophic lateral sclerosis (2016) (5)
- Contrasting effects of cerebrospinal fluid from motor neuron disease patients on the survival of primary motor neurons cultured with or without glia (2011) (5)
- Innovating Clinical Trials for Amyotrophic Lateral Sclerosis (2021) (5)
- Combined fused in sarcoma‐positive (FUS+) basophilic inclusion body disease and atypical tauopathy presenting with an amyotrophic lateral sclerosis/motor neurone disease (ALS/MND)‐plus phenotype (2019) (5)
- Wild-type but not mutant SOD1 transgenic astrocytes promote the efficient generation of motor neuron progenitors from mouse embryonic stem cells (2013) (5)
- Unbiased metabolome screen leads to personalized medicine strategy for amyotrophic lateral sclerosis (2022) (5)
- Genome-wide study of DNA methylation in Amyotrophic Lateral Sclerosis identifies differentially methylated loci and implicates metabolic, inflammatory and cholesterol pathways (2021) (5)
- The Effect of SMN Gene Dosage on ALS Risk and Disease Severity (2021) (5)
- Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries (2021) (5)
- Developments in the treatment of Motor Neurone Disease (2003) (5)
- Aluminum in motor neuron disease spinal cord (1997) (5)
- NO CONVULSIONS IN CHILDREN ON HIGH-DOSE BUSULPHAN (1985) (5)
- SRSF1-dependent inhibition of C9ORF72-repeat RNA nuclear export: genome-wide mechanisms for neuroprotection in amyotrophic lateral sclerosis (2021) (5)
- Multicentre appraisal of amyotrophic lateral sclerosis biofluid biomarkers shows primacy of blood neurofilament light chain (2022) (5)
- Efficacy of the Head Up collar in facilitating functional head movements in patients with Amyotrophic Lateral Sclerosis (2018) (4)
- Case report of concurrent Fabry disease and amyotrophic lateral sclerosis supports a common pathway of pathogenesis (2016) (4)
- Simultaneous ALS and SCA2 associated with an intermediate-length ATXN2 CAG-repeat expansion (2020) (4)
- A consumer's guide to commercially available urodynamic equipment. (1991) (4)
- Percutaneous transfemoral lumbar aortography as an outpatient procedure. (1983) (4)
- Motor neurone disease : (2) Management of the condition (2001) (4)
- Regionality of disease progression predicts prognosis in amyotrophic lateral sclerosis (2015) (4)
- Proteomic Approaches to Study Cysteine Oxidation: Applications in Neurodegenerative Diseases (2021) (4)
- Advanced Glycation End Product Formation in Human Cerebral Cortex Increases With Alzheimer-Type Neuropathologic Changes but Is Not Independently Associated With Dementia in a Population-Derived Aging Brain Cohort. (2020) (4)
- A randomised controlled trial of non-invasive ventilation (NIV) in motor neurone disease (MND) (2005) (3)
- Concurrent amyotrophic lateral sclerosis and cystic fibrosis supports common pathways of pathogenesis (2013) (3)
- Concurrent sodium channelopathies and amyotrophic lateral sclerosis supports shared pathogenesis (2020) (3)
- Lost in translation: microRNAs mediate pathological cross-talk between motor neurons and astrocytes. (2018) (3)
- Gene Therapy in the Nervous System: Failures and Successes. (2017) (3)
- Tensor electrical impedance myography identifies clinically relevant features in amyotrophic lateral sclerosis (2021) (3)
- ELEVATED CREATINE KINASE SUGGESTS BETTER PROGNOSIS IN PATIENTS WITH AMYOTROPHIC LATERAL SCLEROSIS (2013) (3)
- Modelling the cost effectiveness of a potential new neck collar for patients with motor neurone disease (2011) (3)
- Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein (2019) (3)
- HANDBOOK OF CLINICAL NEUROLOGY Series Editors (2010) (3)
- Prediction of personalised prognosis in patients with amyotrophic lateral sclerosis: development and validation of a prediction model (2018) (3)
- The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration (2022) (3)
- Reinnervation as measured by the motor unit size index is associated with preservation of muscle strength in amyotrophic lateral sclerosis, but not all muscles reinnervate (2021) (3)
- Non-invasive ventilation in amyotrophic lateral sclerosis – Authors’ reply (2006) (3)
- Senescent-like Blood Lymphocytes and Disease Progression in Amyotrophic Lateral Sclerosis (2022) (2)
- SRSF1-dependent nuclear export of C9ORF72 repeat transcripts: targeting toxic gain-of-functions induced by protein sequestration as a selective therapeutic strategy for neuroprotection (2018) (2)
- Rapid identification of human muscle disease with fibre optic Raman spectroscopy (2022) (2)
- Non-Coding Genetic Analysis Implicates Interleukin 18 Receptor Accessory Protein 3′UTR in Amyotrophic Lateral Sclerosis (2021) (2)
- SPG15 protein deficits are at the crossroads between lysosomal abnormalities, altered lipid metabolism and synaptic dysfunction (2022) (2)
- Too stringent patient selection criteria in a clinical trial of alpha-blockers reduce the value of the results. (1991) (2)
- CAMTA 1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis (2018) (2)
- Percutaneous high brachial aortography (1987) (2)
- Macrophages utilize mitochondrial fission to enhance mROS production during responses to Streptococcus pneumoniae (2019) (2)
- 154 The natural history of motor neurone disease (MND): assessing the impact of specialist care (2012) (2)
- Diaphragm pacing systems for amyotrophic lateral sclerosis / motor neuron disease (2014) (2)
- Hereditary spastic paraplegia. (2002) (2)
- Rare variant burden analysis within enhancers identifies CAV1 as an ALS risk gene. (2021) (2)
- Molecular dynamics analysis of Superoxide Dismutase 1 mutations suggests decoupling between mechanisms underlying ALS onset and progression (2022) (2)
- 418 – Amyotrophic Lateral Sclerosis and Other Motor Neuron Diseases (2012) (2)
- Micro-RNAs Shuttled by Extracellular Vesicles Secreted from Mesenchymal Stem Cells Dampen Astrocyte Pathological Activation and Support Neuroprotection in In-Vitro Models of ALS (2022) (2)
- Mutations in the SPTLC1 gene are a cause of amyotrophic lateral sclerosis that may be amenable to serine supplementation (2019) (2)
- Tofersen, a SOD1 Antisense Oligonucleotide in Participants with ALS – Results From a Multiple Dose Study (657) (2020) (2)
- Blood–Brain Barrier Disruption and Its Involvement in Neurodevelopmental and Neurodegenerative Disorders (2022) (2)
- articleDownregulation of genes with a function in axon outgrowth and synapse formation in motor neurones of the VEGFδ / δ mouse model of amyotrophic lateral sclerosis (2010) (2)
- Chapter 4 Molecular mechanisms of motor neuron degeneration in amyotrophic lateral sclerosis. (2007) (2)
- Atypical TDP‐43 protein expression in an ALS pedigree carrying a p.Y374X truncation mutation in TARDBP (2022) (2)
- Differential gene expression in a cell culture model of SOD 1-related familial motor neurone disease (2002) (2)
- Mitochondrial fission is increased in macrophages during mROS production in response to S. pneumoniae (2021) (2)
- The role of cranial and thoracic EMG within diagnostic criteria for ALS. (2016) (2)
- A cell-penetrant peptide blocking C9ORF72-repeat RNA nuclear export suppresses neurodegeneration (2021) (1)
- SOD1-targeting therapies for neurodegenerative diseases: a review of current findings and future potential (2020) (1)
- Excitotoxicity, Genetics and Neurodegeneration in Amyotrophic Lateral Sclerosis (1998) (1)
- Comparison Of King’s Clinical Staging In Multinational Amyotrophic Lateral Sclerosis Cohorts (2022) (1)
- Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders (2021) (1)
- MOTOR NEURONE DISEASE : ( 1 ) CLINICAL FEATURES AND PATHOGENESIS By (1)
- Correction to: Longitudinal multi-modal muscle-based biomarker assessment in motor neuron disease (2019) (1)
- A randomised controlled trial of acceptance and commitment therapy plus usual care compared to usual care alone for improving psychological health in people with motor neuron disease (COMMEND): study protocol (2022) (1)
- The clinical and pathological spectrum of ALS (2006) (1)
- Chapter 20 – Thyroid Disease and the Nervous System (2008) (1)
- Use of non-invasive ventilation at end of life (2013) (1)
- EphA4 targeting agents protect motor neurons from cell death induced by amyotrophic lateral sclerosis -astrocytes (2022) (1)
- Mutations in the Sphingolipid Pathway Gene SPTLC1 are a Cause of Amyotrophic Lateral Sclerosis (2019) (1)
- The contribution of Neanderthal introgression and natural selection to neurodegenerative diseases (2023) (1)
- Microglial activation in white matter of the ageing brain (2007) (1)
- Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data (2022) (1)
- A cell-penetrant peptide blocking C9ORF72-repeat RNA nuclear export reduces the neurotoxic effects of dipeptide repeat proteins (2023) (1)
- A huTDP-43 Q331K mouse model shows signs of both motor neuron disease (MND) and frontotemporal dementia (FTD) (2016) (1)
- TDP-43 induces p53-mediated cell death of cortical progenitors and immature neurons (2018) (1)
- Immune response in peripheral axons delays disease progression in SOD1G93A mice (2016) (1)
- Neurodegeneration caused by intronic expansions of C9ORF72 is a clinically heterogeneous but pathologically distinct disease (2013) (1)
- Dipeptide Repeat Pathology in C9orf72-ALS Is Associated with Redox, Mitochondrial and NRF2 Pathway Imbalance (2022) (1)
- Effects Of Cough Augmentation On Pulmonary Morbidity, Survival, And Quality Of Life In Patients With Amyotrophic Lateral Sclerosis In Respiratory Failure: A Randomised Trial (P4.082) (2014) (1)
- Creatine kinase and prognosis in amyotrophic lateral sclerosis: a literature review and multi-centre cohort analysis (2022) (1)
- Assessment of the Precision in Measuring Glutathione at 3 T With a MEGA‐PRESS Sequence in Primary Motor Cortex and Occipital Cortex (2021) (1)
- Chapter 18 Hereditary Spastic Paraparesis (2003) (1)
- Insights Arising from Gene Expression Profiling in Amyotrophic Lateral Sclerosis (2012) (1)
- Chapter 11 Mitochondrial Dysfunction in Amyotrophic Lateral Sclerosis (2003) (1)
- CLINICAL EVALUATION OF TRANSCUTANEOUS CARBON DIOXIDE MONITOR (TOSCA) IN PATIENTS WITH MOTOR NEURONE DISEASE (2012) (1)
- TIMING OF BONE-MARROW TRANSPLANTATION IN THALASSAEMIA MAJOR (1985) (1)
- Vascular Compression in Thoracic Outlet Syndrome - a Potentially Missed Diagnosis (1988) (1)
- Neurological complications of coronary artery bypass surgery (1986) (1)
- Use of silver sulphadiazine cream for burns caused by cytotoxic‐drug extravasation (1988) (1)
- O-051: Reliability of Urinary Bisphenol A Concentrations Measured During Pregnancy and Implications for Epidemiologic Study Design (2012) (1)
- A Career in Academic Medicine: Personal Experiences (1999) (1)
- Archives of Disease in Childhood , 1988 , 63 , 1315-1319 99 mTc dimercaptosuccinic acid ( DMSA ) scan in patients with established radiological renal scarring (2006) (1)
- Tofersen in adults with SOD1-ALS: phase 3 VALOR trial and open-label extension results (2022) (1)
- Analysis of brain and spinal MRI measures in a common domain to investigate directional neurodegeneration in motor neuron disease (2022) (0)
- Glial cell pathology of periventricular and deep white matter lesions in the ageing brain (2006) (0)
- Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (2022) (0)
- Consent form: patient qualitative (2016) (0)
- Do deficits in mitochondrial spare respiratory capacity contribute to neuropsychological changes seen in Alzheimer’s disease? (2020) (0)
- Zstress: A zebrafish high throughput phenotypic screen and validation in the Sod1 G93a mouse model (2016) (0)
- P4-119 Characterization of ubiquitin positive inclusions in frontotemporal dementia (2006) (0)
- 164 Experience of the use of diaphragm pacing in patients with respiratory impairment due to motor neurone disorders (2012) (0)
- Gene Therapy for Familial ALS Using AAV9 Mediated Silencing of Mutant SOD1 (2016) (0)
- Consent form: carer qualitative (2016) (0)
- a copy of Repeated 5-day cycles of low dose aldesleukin in amyotrophic lateral sclerosis (IMODALS): A phase 2a randomised, double-blind, placebo-controlled trial (2020) (0)
- A data-driven approach links microglia to pathology and prognosis in amyotrophic lateral sclerosis (2017) (0)
- 159 Dysregulation of the cross-talk with astrocytes as a contributory factor to motor neuron injury in motor neuron disease (2012) (0)
- Book Review: Palliative care in amyotrophic lateral sclerosis. (2001) (0)
- Running title: Genome-wide association study in long QT syndrome (2020) (0)
- Genotype-phenotype correlation in hereditary spastic paraparesis (2001) (0)
- 156 Motor neurones subtypes resistant to degeneration in amyotrophic lateral sclerosis show distinct synaptic characteristics across species (2012) (0)
- Large-scale analyses of CAV1 and CAV2 suggest their expression is higher in post-mortem ALS brain tissue and affects survival (2022) (0)
- Advances, challenges and future directions for stem cell therapy in amyotrophic lateral sclerosis (2017) (0)
- SRSF1-dependent inhibition of C9ORF72-repeat RNA nuclear export: genome-wide mechanisms for neuroprotection in amyotrophic lateral sclerosis (2021) (0)
- Clinical Trials in Neurodegeneration (2016) (0)
- Oral Abstracts (2020) (0)
- Elevated Creatine Kinase is Associated with a Better Prognosis in Patients with Amyotrophic Lateral Sclerosis (P6.099) (2015) (0)
- Mutations in the tail domain of the neurofilament heavy chain gene increase the risk of amyotrophic lateral sclerosis (2022) (0)
- Mitochondrial function determines severity but not risk of amyotrophic lateral sclerosis (2022) (0)
- 2 Insights Arising from Gene Expression Profiling in Amyotrophic Lateral Sclerosis (2012) (0)
- 11.30 Mutations in the glycosyltransferase domain of GLT8D1 cause ALS (2019) (0)
- Title: Mutations in ANXA11 cause familial and sporadic amyotrophic lateral sclerosis (2016) (0)
- Laparoscopic insertion of a diaphragmatic pacing system in patients with non-spinal injury-related neurological respiratory failure: the first reported UK cases (2010) (0)
- NIV paper figure1 (2015) (0)
- Clinical Biomechanics E ffi cacy of the Head Up collar in facilitating functional head movements in patients with Amyotrophic Lateral Sclerosis (2018) (0)
- 222 Investigating directionality of neurodegeneration in vivo in ALS using multimodal MRI (2019) (0)
- Brain energy metabolism in ALS: A phosphorus-31 magnetic resonance spectroscopy study (2021) (0)
- Real-time bioelectrochemical investigation of brain injury and neurodegeneration (2000) (0)
- The motor neuron diseases (2020) (0)
- 171 Urinary P75: a novel biomarker for motor neuron disease? (2022) (0)
- ROLE OF COUGH AUGMENTATION IN AMYOTROPHIC LATERAL SCLEROSIS (2014) (0)
- Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation (2013) (0)
- Investigating the mechanisms underlying oligodendrocyte dysfunction in C9ORF72 ALS (2016) (0)
- The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis (2015) (0)
- A TDP-43 Q331K transgenic mouse shows promise as a robust pre-clinical model of Motor Neurone Disease (MND) (2015) (0)
- Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein (2019) (0)
- Mutations in ANXA11 cause familial and sporadic amyotrophic lateral sclerosis (2017) (0)
- Concurrent sodium channel myotonia and amyotrophic lateral sclerosis supports shared pathogenesis (2022) (0)
- PAW37 Microarray analysis identifies the gene signature of spared vs vulnerable motor neurone groups (2010) (0)
- Chapter 9 Cellular Biological Effects of Copper/Zinc Superoxide Dismutase Mutations (2003) (0)
- Non-invasive ventilation in motor neurone disease: an update of current UK practice [abstract] (2010) (0)
- Low expression of EXOSC2 protects against clinical COVID-19 and impedes SARS-CoV-2 replication (2022) (0)
- Loss of TMEM106B exacerbates C9ALS/FTD DPR pathology by disrupting autophagosome maturation (2022) (0)
- GGGGCC Repeat Expansion of C9ORF72 Is Toxic Via Sequestration Of RNA Binding Proteins And Consequent Disruption Of RNA Splicing (S56.004) (2014) (0)
- Consent form: patient (2016) (0)
- ZNStress: a high-throughput drug screening protocol for identification of compounds modulating neuronal stress in the transgenic mutant sod1G93R zebrafish model of amyotrophic lateral sclerosis (2016) (0)
- SOD1 mutation in MND patient fibroblasts shifts energy generation from oxidative phosphorylation to glycolysis (2014) (0)
- Deficits in mitochondrial function and glucose metabolism seen in sporadic and familial Alzheimer’s disease derived Astrocytes are ameliorated by increasing hexokinase 1 expression (2023) (0)
- Pacing discontinuation standard operating procedure (2016) (0)
- Radiological assessment of hip (1999) (0)
- Safety and efficacy of C9ORF72-repeat RNA nuclear export inhibition in amyotrophic lateral sclerosis (2021) (0)
- Mutations in the Glycosylt ransferase Domain of GLT 8 D 1 Are Associated with Familial Amyotrophic Lateral Sclerosis Graphical (2019) (0)
- Symptomatic intermittent bladder acontractility after clam cystoplasty. (1993) (0)
- Bone-marrow transplantation for leukaemia. (1995) (0)
- Microarray gene expression profiling of deep subcortical lesions in the ageing brain (2007) (0)
- Guillain–Barré Syndrome (2017) (0)
- Consent form: carer (2016) (0)
- LITHIUM CARBONATE IS NOT BENEFICIAL FOR PATIENTS WITH AMYOTROPHIC LATERAL SCLEROSIS: RESULTS OF THE LICALS TRIAL [EUDRACT NUMBER: 2008-006891-31] (2012) (0)
- Thyroid Disease and the Nervous System (2021) (0)
- Qualitative interview topic guide (2016) (0)
- Oral Presentations (2012) (0)
- Turner and others 2013 Controversies and priorities in Amyotrophic Lateral Sclerosis (2013) (0)
- Conservative treatment of delayed cerebral radiation necrosis 0 Anteeior (0)
- Fibroblasts from patients with amyotrophic lateral sclerosis (ALS) associated with mutations in tardbp gene as model of TDP-43 proteinopathy (2015) (0)
- Patient information sheet: patient (2016) (0)
- Patient information sheet: carer qualitative (2016) (0)
- Head-Up : co-designing novel neck orthosis for neck weakness in MND (2012) (0)
- Investigation of the mitochondrial genome in patients with atypical motor neuron disease (2007) (0)
- Stable transgenic C9orf72 zebrafish model key aspects of the ALS/FTD phenotype and reveal novel pathological features (2018) (0)
- Stop pacing patient letter (non-invasive ventilation arm) (2016) (0)
- Familial motor neuron diseases other than amyotrophic lateral sclerosis (2021) (0)
- Poster Presentations (2015) (0)
- 160 Novel in vitro and in vivo models of ALS associated with TDP-43 proteinopathy (2012) (0)
- The application of Raman spectroscopy to the diagnosis of mitochondrial muscle disease: A preliminary comparison between fibre optic probe and microscope formats (2021) (0)
- Low expression of EXOSC2 protects against clinical COVID-19 and impedes SARS-CoV-2 replication (2022) (0)
- Establishing the UK DNA Bank for motor neuron disease (MND) (2015) (0)
- Cough assistance to clear lungs of ALS patients with severe bulbar dysfunction: Not a good idea! (2015) (0)
- Amyotrophic lateral sclerosis: A comprehensive guide to management Edited by Hiroshi Mitsumoto and Forbes Norris Jr. Published by Demos Publications, 1994. ISBN 0-939957-58-2 (Pbk), 342 pp. Price $39.95 (1997) (0)
- Trimodal pattern of C9ORF72 GGGGCC normal allele repeat number in sporadic amyotrophic lateral sclerosis and lack of association with disease risk and age at onset (2013) (0)
- SOD1 aggregation in familial amyotrophic lateral sclerosis (FALS) (2002) (0)
- GLT8D1 mutations cause amyotrophic lateral sclerosis via disruption of neurotrophin signalling within membrane lipid rafts (2022) (0)
- Preservation of thalamic neuronal function may be a prerequisite for pain perception in diabetic neuropathy: A magnetic resonance spectroscopy study (2023) (0)
- PALLIATIVE CARE IN AMYOTROPHIC LATERAL SCLEROSIS.Edited by David Oliver, Gian Domenico Borasio and Declan Walsh. 2000. Oxford: Oxford University Press. £49.50. Pp. 202. ISBN 0-19-263166-7. (2001) (0)
- DEVELOPMENT AND VALIDATION OF THE NEUROLOGICAL FATIGUE INDEX FOR MOTOR NEURONE DISEASE (2009) (0)
- Deficits in Mitochondrial Spare Respiratory Capacity Contribute to the Neuropsychological Changes of Alzheimer’s Disease (2020) (0)
- Tensor electrical impedance myography identifies bulbar disease progression in amyotrophic lateral sclerosis (2022) (0)
- Evidence-based or arrogance-based medicine? (2016) (0)
- Prospects for gene replacement therapies in amyotrophic lateral sclerosis (2022) (0)
- Physical activity as an exogenous risk factor for amyotrophic lateral sclerosis: a review of the evidence (2023) (0)
- Stop pacing general practitioner cover letter (diaphragm pacing arm) (2016) (0)
- scarring . established radiological renal ( DMSA ) scan in patients with 99 mTc dimercaptosuccinic acid (2006) (0)
- Prosthetic Urethral Substitution (1992) (0)
- Label-free fibre optic Raman spectroscopy with bounded simplex-structured matrix factorization for the serial study of serum in amyotrophic lateral sclerosis (2022) (0)
- Wild-type but not mutant SOD1 transgenic astrocytes promote the efficient generation of motor neuron progenitors from mouse embryonic stem cells (2013) (0)
- Fiber optic Raman spectroscopy for the evaluation of disease state in Duchenne muscular dystrophy: An assessment using the mdx model and human muscle (2022) (0)
- The Role of Common Copy Number Variation in Amyotrophic Lateral Sclerosis (ALS) (2010) (0)
- The impact of neck weakness and experiences of using neck orthoses in people with motor neuron disease (2014) (0)
- WHAT DO WE KNOW ABOUT THE CAUSES OF MOTOR NEURONE DEGENERATION ? (2005) (0)
- Non‐negative matrix factorisation of Raman spectra finds common patterns relating to neuromuscular disease across differing equipment configurations, preclinical models and human tissue (2022) (0)
- Chapter 18 – Thyroid Disease and the Nervous System (2014) (0)
- Complementary therapies for people with motor neurone disease: extending a cancer care service (2012) (0)
- 166 The heat is “ON” in the Neurons: neuronal stress in a sod1 Zebrafish model of MND affects neuromuscular junction integrity and causes muscle denervation (2012) (0)
- 176 Motor fatigability in motor neuron disease (2022) (0)
- Neurodegenerative Diseases: Current and potential therapeutics in motor neuron diseases (2005) (0)
- Stop pacing patient letter (diaphragm pacing arm) (2016) (0)
- Contrast-enhanced spiral CT VS ventilation perfusion scans in the investigation of suspected pulmonary emboli (1994) (0)
- Screening and randomisation (2016) (0)
- Participant flow in each trial arm (2016) (0)
- Patient information sheet: patient qualitative (2016) (0)
- Type 2 diabetes mellitus-associated transcriptome alterations in cortical neurones and associated neurovascular unit cells in the ageing brain (2021) (0)
- Assessment of coupled movements in head movements performed by patients with Motor Neurone Disease (2016) (0)
- Work in progress: quality of life (QoL) and neurological disease - trajectories of outcome in neurological conditions (TONiC): a study protocol (2012) (0)
- Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias (2023) (0)
- Inosine reverses motor neuron toxicity observed in amyotrophic lateral sclerosis patient astrocytes with an adenosine deaminase deficiency (2018) (0)
- 079 Defective regeneration of oxidatively-inactivated 2-cys peroxiredoxins in SOD1-related Amyotrophic Lateral Sclerosis (2012) (0)
- Genetic variability in sporadic amyotrophic lateral sclerosis. (2023) (0)
- Erratum: Theme 3 cognitive and psychological assessment and support (Amyotrophic Lateral Sclerosis (2011) 12 (78))? (2012) (0)
- Randomised controlled trial of now invasive ventilation in motor neurone disease (2004) (0)
- AMYOTROPHIC LATERAL SCLEROSIS ASSOCIATED WITH AN INTERMEDIATE LENGTH GGGGCC REPEAT EXPANSION HAS DISTINCT NEUROPATHOLOGY COMPARED TO PATIENTS WITH LARGER EXPANSIONS (2014) (0)
- Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein (2019) (0)
- Patient information sheet: carer (2016) (0)
- SCREENING FOR RESPIRATORY FAILURE IN ALS USING CLINICAL QUESTIONING, RESPIRATORY FUNCTION TESTS AND TRANSCUTANEOUS CARBON DIOXIDE: WHICH IS THE BETTER TOOL? (2015) (0)
- P188 EXPLORING THE IMPACT OF NON-INVASIVE VENTILATION TOWARDS THE END OF LIFE (2012) (0)
- A novel alternative splicing event rescues the mutant tardbp phenotype in a zebrafish model of TDP-43 related Amyotrophic Lateral Sclerosis (ALS) (P03.180) (2012) (0)
- PO227 A clinical trial of telehealth to improve timely access to specialist care (2017) (0)
- Fit for purpose? A cross-sectional study to evaluate the acceptability and usability of HeadUp, a novel neck support collar for neurological neck weakness (2020) (0)
- Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis (2016) (0)
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