All Stories

  1. The genetics of amyotrophic lateral sclerosis: current insights

    Article • Degenerative Neurological and Neuromuscular Disease, May 2016, Dove Medical Press

    Dr Janine Kirby

  2. Lysosomal and phagocytic activity is increased in astrocytes during disease progression in the SOD1 G93A mouse model of amyotrophic lateral sclerosis

    Article • Frontiers in Cellular Neuroscience, October 2015, Frontiers

    Dr Janine Kirby

  3. The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients

    Article • Neurobiology of Aging, October 2015, Elsevier

    Dr Janine Kirby

  4. Oligogenic inheritance of optineurin (OPTN) andC9ORF72mutations in ALS highlights localisation of OPTN in the TDP-43-negative inclusions ofC9ORF72-ALS

    Article • Neuropathology, August 2015, Wiley

    Dr Janine Kirby

  5. Motor neurone disease/amyotrophic lateral sclerosis associated with intermediate-length CAG repeat expansions inAtaxin-2does not have 1C2-positive polyglutamine inclusions

    Article • Neuropathology and Applied Neurobiology, July 2015, Wiley

    Dr Janine Kirby

  6. C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis

    Article • PLoS ONE, May 2015, PLOS

    Dr Janine Kirby

  7. Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy

    Article • Acta Neuropathologica, May 2015, Springer Science + Business Media

    Dr Janine Kirby

  8. Stratified gene expression analysis identifies major amyotrophic lateral sclerosis genes

    Article • Neurobiology of Aging, May 2015, Elsevier

    Dr Janine Kirby

  9. The Spectrum of C9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis

    Article • Neurotherapeutics, March 2015, Springer Science + Business Media

    Dr Janine Kirby

  10. Invited Review: Decoding the pathophysiological mechanisms that underlie RNA dysregulation in neurodegenerative disorders: a review of the current state of the art

    Article • Neuropathology and Applied Neurobiology, January 2015, Wiley

    Dr Guillaume M Hautbergue, Dr Janine Kirby

  11. Gene expression signatures in motor neurone disease fibroblasts reveal dysregulation of metabolism, hypoxia-response and RNA processing functions

    Article • Neuropathology and Applied Neurobiology, January 2015, Wiley

    Dr Janine Kirby

  12. Intermediate length C9orf72 expansion in an ALS patient without classical C9orf72 neuropathology

    Article • Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, December 2014, Taylor & Francis

    Dr Janine Kirby

  13. 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

    Article • Neuropathology and Applied Neurobiology, September 2014, Wiley

    Dr Janine Kirby

  14. Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions

    Article • Brain, May 2014, Oxford University Press (OUP)

    Dr Janine Kirby

  15. Multicentre quality control evaluation of different biomarker candidates for amyotrophic lateral sclerosis

    Article • Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, February 2014, Taylor & Francis

    Dr Janine Kirby

  16. The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype

    Article • Acta Neuropathologica, February 2014, Springer Science + Business Media

    Dr Janine Kirby

  17. Comparison of Blood RNA Extraction Methods Used for Gene Expression Profiling in Amyotrophic Lateral Sclerosis

    Article • PLoS ONE, January 2014, PLOS

    Dr Janine Kirby

  18. TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions

    Article • Acta Neuropathologica, January 2014, Springer Science + Business Media

    Dr Janine Kirby

  19. C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles

    Article • Neurology, October 2013, Wolters Kluwer Health

    Dr Janine Kirby

  20. S[+] Apomorphine is a CNS penetrating activator of the Nrf2-ARE pathway with activity in mouse and patient fibroblast models of amyotrophic lateral sclerosis

    Article • Free Radical Biology and Medicine, August 2013, Elsevier

    Dr Janine Kirby

  21. C9ORF72 expansions, parkinsonism, and Parkinson disease: A clinicopathologic study

    Article • Neurology, July 2013, Wolters Kluwer Health

    Dr Janine Kirby

  22. Lack of unique neuropathology in amyotrophic lateral sclerosis associated with p.K54E angiogenin (ANG) mutation

    Article • Neuropathology and Applied Neurobiology, July 2013, Wiley

    Dr Janine Kirby

  23. ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN

    Article • Human Molecular Genetics, May 2013, Oxford University Press (OUP)

    Dr Janine Kirby

  24. Neurodegeneration caused by intronic expansions of C9ORF72 is a clinically heterogeneous but pathologically distinct disease

    Article • The Lancet, February 2013, Elsevier

    Dr Janine Kirby

  25. Investigating cell death mechanisms in amyotrophic lateral sclerosis using transcriptomics

    Article • Frontiers in Cellular Neuroscience, January 2013, Frontiers

    Dr Janine Kirby

  26. Neuronal dark matter: the emerging role of microRNAs in neurodegeneration

    Article • Frontiers in Cellular Neuroscience, January 2013, Frontiers

    Dr Janine Kirby

  27. Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation

    Article • Molecular Neurodegeneration, January 2013, Springer Science + Business Media

    Dr Janine Kirby

  28. 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

    Article • Acta Neuropathologica, November 2012, Springer Science + Business Media

    Dr Janine Kirby

  29. Concurrence of multiple sclerosis and amyotrophic lateral sclerosis in patients with hexanucleotide repeat expansions of C9ORF72

    Article • Journal of Neurology Neurosurgery & Psychiatry, October 2012, BMJ

    Dr Janine Kirby

  30. Gene expression profiling in human neurodegenerative disease

    Article • Nature Reviews Neurology, August 2012, Springer Science + Business Media

    Dr Janine Kirby

  31. The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder

    Article • European Journal of Human Genetics, June 2012, Springer Science + Business Media

    Dr Janine Kirby

  32. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

    Article • The Lancet Neurology, April 2012, Elsevier

    Dr Janine Kirby, Dr. Rita Guerreiro

  33. Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72

    Article • Brain, February 2012, Oxford University Press (OUP)

    Dr Janine Kirby

  34. Insights Arising from Gene Expression Profiling in Amyotrophic Lateral Sclerosis

    Article • January 2012, IntechOpen

    Dr Janine Kirby

  35. Genetics of Familial Amyotrophic Lateral Sclerosis

    Article • January 2012, IntechOpen

    Dr Janine Kirby

  36. Molecular pathology and genetic advances in amyotrophic lateral sclerosis: an emerging molecular pathway and the significance of glial pathology

    Article • Acta Neuropathologica, November 2011, Springer Science + Business Media

    Dr Janine Kirby

  37. Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis

    Article • Nature Reviews Neurology, November 2011, Springer Science + Business Media

    Dr Janine Kirby

  38. Brain Iron Dysregulation and the Risk of Ageing White Matter Lesions

    Article • NeuroMolecular Medicine, October 2011, Springer Science + Business Media

    Dr Janine Kirby

  39. Dysregulation of astrocyte-motoneuron cross-talk in mutant superoxide dismutase 1-related amyotrophic lateral sclerosis

    Article • Brain, September 2011, Oxford University Press (OUP)

    Dr Janine Kirby

  40. HFE H63D, C282Y and AGTR1 A1166C Polymorphisms and Brain White Matter Lesions in the Aging Brain

    Article • Journal of Neurogenetics, February 2011, Taylor & Francis

    Dr Janine Kirby

  41. Phosphatase and tensin homologue/protein kinase B pathway linked to motor neuron survival in human superoxide dismutase 1-related amyotrophic lateral sclerosis

    Article • Brain, January 2011, Oxford University Press (OUP)

    Dr Janine Kirby

  42. Novel FUS/TLS Mutations and Pathology in Familial and Sporadic Amyotrophic Lateral Sclerosis

    Article • Archives of Neurology, April 2010, American Medical Association (AMA)

    Dr Janine Kirby

  43. Mutations in CHMP2B in Lower Motor Neuron Predominant Amyotrophic Lateral Sclerosis (ALS)

    Article • PLoS ONE, March 2010, PLOS

    Dr Janine Kirby

  44. Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis

    Article • Neurogenetics, September 2009, Springer Science + Business Media

    Dr Janine Kirby

  45. Transcriptional response of the neuromuscular system to exercise training and potential implications for ALS

    Article • Journal of Neurochemistry, June 2009, Wiley

    Dr Janine Kirby

  46. New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP)

    Article • Neurogenetics, November 2008, Springer Science + Business Media

    Professor Yusuf A Rajabally, Dr Janine Kirby

  47. HSP60 IS A RARE CAUSE OF HEREDITARY SPASTIC PARAPARESIS, BUT MAY ACT AS A GENETIC MODIFIER

    Article • Neurology, May 2008, Wolters Kluwer Health

    Dr Janine Kirby

  48. 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

    Article • Journal of Neuroscience, August 2007, Society for Neuroscience

    Dr Janine Kirby

  49. MUTATIONS IN VAPB ARE NOT ASSOCIATED WITH SPORADIC ALS

    Article • Neurology, May 2007, Wolters Kluwer Health

    Dr Janine Kirby

  50. Gene Expression Assays

    Article • January 2007, Elsevier

    Dr Janine Kirby

  51. Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis withSOD1 mutations

    Article • Annals of Neurology, January 2007, Wiley

    Dr Janine Kirby

  52. Clinical features of hereditary spastic paraplegia due to spastin mutation

    Article • Neurology, July 2006, Wolters Kluwer Health

    Dr Janine Kirby

  53. Impairment of mitochondrial anti-oxidant defence in SOD1-related motor neuron injury and amelioration by ebselen

    Article • Brain, July 2006, Oxford University Press (OUP)

    Dr Janine Kirby

  54. Mutant SOD1 alters the motor neuronal transcriptome: implications for familial ALS

    Article • Brain, April 2005, Oxford University Press (OUP)

    Dr Janine Kirby

  55. Screening of the regulatory and coding regions of vascular endothelial growth factor in amyotrophic lateral sclerosis

    Article • Neurogenetics, March 2005, Springer Science + Business Media

    Dr Janine Kirby, Dr Christopher M Morris

  56. Selective loss of neurofilament expression in Cu/Zn superoxide dismutase (SOD1) linked amyotrophic lateral sclerosis

    Article • Journal of Neurochemistry, February 2004, Wiley

    Dr Janine Kirby

  57. 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

    Article • Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders, September 2003, Taylor & Francis

    Dr Janine Kirby

  58. 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

    Article • Journal of Biological Chemistry, December 2002, American Society for Biochemistry & Molecular Biology (ASBMB)

    Dr Janine Kirby

  59. Differential gene expression in a cell culture model of SOD1-related familial motor neurone disease

    Article • Human Molecular Genetics, August 2002, Oxford University Press (OUP)

    Dr Janine Kirby

  60. Mutation screening of manganese superoxide dismutase in amyotrophic lateral sclerosis

    Article • Neuroreport, August 2001, Wolters Kluwer Health

    Dr Janine Kirby

  61. Molecular and cytological investigations of phosphoglucomutase (PGM1) in the K562 cell line

    Article • Annals of Human Genetics, March 1997, Wiley

    Dr Janine Kirby