Ammar Al-Chalabi

Summary

Affiliation: King's College London
Country: UK

Publications

  1. ncbi request reprint D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotype
    Matthew J Parton
    Department of Neurology, Guy s, King s and St Thomas School of Medicine and the Institute of Psychiatry, London SE5 8AF, UK
    Hum Mutat 20:473. 2002
  2. pmc Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophy
    Ammar Al-Chalabi
    MRC Centre for Neurodegeneration Research, King s College London, Department of Clinical Neuroscience, Institute of Psychiatry, and NIHR Biomedical Research Centre, London, United Kingdom
    PLoS ONE 4:e7114. 2009
  3. ncbi request reprint Neurofilaments and neurological disease
    Ammar Al-Chalabi
    Departments of Neuroscience and Neurology, Institute of Psychiatry, King s College London, London SE5 8AF, UK
    Bioessays 25:346-55. 2003
  4. ncbi request reprint Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis
    Ammar Al-Chalabi
    Department of Neurology, Academic Neuroscience Centre, Institute of Psychiatry, King s College London, London, United Kingdom
    Ann Neurol 54:130-4. 2003
  5. ncbi request reprint Birth order and the genetics of amyotrophic lateral sclerosis
    Umesh Vivekananda
    MRC Centre for Neurodegeneration, Research, P043, King s College London, Dept of Neurology, Institute of Psychiatry, London, SE5 8AF, UK
    J Neurol 255:99-102. 2008
  6. pmc Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q
    Deborah M Ruddy
    Department of Medical and Molecular Genetics, Guy s, King s, and St Thomas School of Medicine, London, United Kingdom
    Am J Hum Genet 73:390-6. 2003
  7. pmc The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder
    Bradley N Smith
    Department of Clinical Neurosciences, MRC Centre for Neurodegeneration Research, Institute of Psychiatry, Kings College London, London, UK
    Eur J Hum Genet 21:102-8. 2013
  8. doi request reprint An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline
    Claire Troakes
    King s College London, MRC Centre for Neurodegeneration Research, Department of Clinical Neuroscience, Institute of Psychiatry, De Crespigny Park, London, UK
    Neuropathology 32:505-14. 2012
  9. pmc A proposed staging system for amyotrophic lateral sclerosis
    Jose C Roche
    MRC Centre for Neurodegeneration Research, King s College London, Institute of Psychiatry, London SE5 8AF, UK
    Brain 135:847-52. 2012
  10. pmc The association between ALS and population density: A population based study
    Kirsten M Scott
    King s College Hospital, London, UK
    Amyotroph Lateral Scler 11:435-8. 2010

Detail Information

Publications70

  1. ncbi request reprint D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotype
    Matthew J Parton
    Department of Neurology, Guy s, King s and St Thomas School of Medicine and the Institute of Psychiatry, London SE5 8AF, UK
    Hum Mutat 20:473. 2002
    ..We propose that a cis-acting regulatory polymorphism has arisen close to D90A-SOD1 in the recessive founder, which decreases ALS susceptibility in heterozygotes and slows disease progression...
  2. pmc Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophy
    Ammar Al-Chalabi
    MRC Centre for Neurodegeneration Research, King s College London, Department of Clinical Neuroscience, Institute of Psychiatry, and NIHR Biomedical Research Centre, London, United Kingdom
    PLoS ONE 4:e7114. 2009
    ..Genetic variants of the alpha-synuclein gene, SNCA, are thus strong candidates for genetic association with MSA. One follow-up to a genome-wide association of Parkinson's disease has identified association of a SNP in SNCA with MSA...
  3. ncbi request reprint Neurofilaments and neurological disease
    Ammar Al-Chalabi
    Departments of Neuroscience and Neurology, Institute of Psychiatry, King s College London, London SE5 8AF, UK
    Bioessays 25:346-55. 2003
    ..In this review, we discuss the structure, normal function and molecular pathology of neurofilaments...
  4. ncbi request reprint Ciliary neurotrophic factor genotype does not influence clinical phenotype in amyotrophic lateral sclerosis
    Ammar Al-Chalabi
    Department of Neurology, Academic Neuroscience Centre, Institute of Psychiatry, King s College London, London, United Kingdom
    Ann Neurol 54:130-4. 2003
    ..There was no difference in age of onset, clinical presentation, rate of progression, or disease duration for those with one or two copies of the null allele, excluding CNTF as a major disease modifier in ALS...
  5. ncbi request reprint Birth order and the genetics of amyotrophic lateral sclerosis
    Umesh Vivekananda
    MRC Centre for Neurodegeneration, Research, P043, King s College London, Dept of Neurology, Institute of Psychiatry, London, SE5 8AF, UK
    J Neurol 255:99-102. 2008
    ..This is encouraging for the prospect of finding sporadic ALS susceptibility genes using genome-wide association mapping...
  6. pmc Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q
    Deborah M Ruddy
    Department of Medical and Molecular Genetics, Guy s, King s, and St Thomas School of Medicine, London, United Kingdom
    Am J Hum Genet 73:390-6. 2003
    ..5 Mb on the Marshfield map. Bioinformatic analysis of the region has identified 18 known genes and 70 predicted genes in this region, and sequencing of candidate genes has now begun...
  7. pmc The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder
    Bradley N Smith
    Department of Clinical Neurosciences, MRC Centre for Neurodegeneration Research, Institute of Psychiatry, Kings College London, London, UK
    Eur J Hum Genet 21:102-8. 2013
    ..We conclude that the HREM has a single founder and is the most common mutation in familial and sporadic ALS in Europe...
  8. doi request reprint An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline
    Claire Troakes
    King s College London, MRC Centre for Neurodegeneration Research, Department of Clinical Neuroscience, Institute of Psychiatry, De Crespigny Park, London, UK
    Neuropathology 32:505-14. 2012
    ..We conclude that these chromosome 9-linked MND/ALS cases represent a pathological sub-group with abundant p62 pathology in the cerebral cortex, hippocampus and cerebellum but with no significant associated cognitive decline...
  9. pmc A proposed staging system for amyotrophic lateral sclerosis
    Jose C Roche
    MRC Centre for Neurodegeneration Research, King s College London, Institute of Psychiatry, London SE5 8AF, UK
    Brain 135:847-52. 2012
    ..The standardized times to milestones may well vary between different studies and populations, although the stages themselves and their meanings are likely to remain unchanged...
  10. pmc The association between ALS and population density: A population based study
    Kirsten M Scott
    King s College Hospital, London, UK
    Amyotroph Lateral Scler 11:435-8. 2010
    ..5, p < 0.01). Thus, in this cohort in the south-east of England, people with ALS were more likely to be resident in areas of high population density at diagnosis...
  11. pmc Genotyping DNA pools on microarrays: tackling the QTL problem of large samples and large numbers of SNPs
    Emma Meaburn
    Social, Genetic and Developmental Psychiatry Centre, Box Number P082, Institute of Psychiatry, De Crespigny Park, London, SE5 8AF, UK
    BMC Genomics 6:52. 2005
    ..An efficient solution is to genotype case and control DNA pools using SNP microarrays. We demonstrate that this is practical using DNA pools of 100 individuals...
  12. ncbi request reprint Large-scale pathways-based association study in amyotrophic lateral sclerosis
    Dalia Kasperaviciute
    Department of Neurodegenerative Disease, Institute of Neurology, University College London, London, UK
    Brain 130:2292-301. 2007
    ..It is reliable for large scale genotyping studies of diseases such as ALS, where DNA sample collections are limited because of low disease prevalence and short survival time...
  13. doi request reprint Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients
    Lauren Johnson
    Centre for Neurodegeneration Research, Institute of Psychiatry, King s College London, King s Health Partners, UK
    Neurobiol Aging 33:2948.e15-7. 2012
    ..These are not predicted to alter splicing and are therefore unlikely to be pathogenic. We conclude that OPTN mutations associated with ALS are rare in British ALS patients...
  14. ncbi request reprint Comparison of two percutaneous radiological gastrostomy tubes in the nutritional management of ALS patients
    Alan Rio
    Department of Nutrition and Dietetics, King s College Hospital, London, UK
    Amyotroph Lateral Scler Other Motor Neuron Disord 6:177-81. 2005
    ..We conclude that the Entristar skin level gastrostomy tube is associated with a reduction in peristomal infection, tube failure and blockage compared with the Wills-Oglesby tube...
  15. doi request reprint Geographical clustering of amyotrophic lateral sclerosis in South-East England: a population study
    Kirsten M Scott
    King s College Medical School at Guy s, King s College and St Thomas s Hospitals, London, UK
    Neuroepidemiology 32:81-8. 2009
    ..We tested this hypothesis using the South-East England ALS population register, which covers south-east London, Kent and parts of neighbouring counties...
  16. pmc Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat
    Ashley R Jones
    King s College London, Institute of Psychiatry, Department of Clinical Neuroscience, London, UK
    Neurobiol Aging 34:2234.e1-7. 2013
    ..These results indicate residual association at the C9orf72 locus suggesting a second disease-causing repeat mutation...
  17. doi request reprint Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6
    Caroline Vance
    Department of Clinical Neuroscience, King s College London, Medical Research Council MRC Centre for Neurodegeneration Research, Institute of Psychiatry, London SE5 8AF, UK
    Science 323:1208-11. 2009
    ..FUS is involved in the regulation of transcription and RNA splicing and transport, and it has functional homology to another ALS gene, TARDBP, which suggests that a common mechanism may underlie motor neuron degeneration...
  18. ncbi request reprint Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3
    Caroline Vance
    Department of Neurology, King s College London School of Medicine, London, UK
    Brain 129:868-76. 2006
    ..02 (theta = 0) at D9S1878. Recombination narrowed the conserved haplotype to 12 cM (11 Mb) at 9p13.2-21.3 (flanking markers D9S2154 and D9S1874). Bioinformatic analysis of the region has identified 103 known genes...
  19. doi request reprint ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics
    Olubunmi Abel
    Department of Clinical Neuroscience, King s College London, Institute of Psychiatry, London, UK
    Hum Mutat 33:1345-51. 2012
    ..Furthermore, integration of external tools, systems for feedback, annotation by users, and two-way links to collaborators hosting complementary databases further enhance the functionality of ALSoD...
  20. ncbi request reprint Amyotrophic lateral sclerosis as a complex genetic disease
    Claire L Simpson
    MRC Centre for Neurodegeneration Research P 043, King s College London, Institute of Psychiatry, London SE5 8AF, UK
    Biochim Biophys Acta 1762:973-85. 2006
    ..We examine the statistical genetic principles that underpin this model and review what is known about ALS as a disease with complex genetics...
  21. pmc Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration
    Claire L Simpson
    Department of Neurology, King s College London, London SE5 8AF, UK
    Hum Mol Genet 18:472-81. 2009
    ..01). These findings add to the growing body of evidence implicating the RNA processing pathway in neurodegeneration and suggest a critical role for ELP3 in neuron biology and of ELP3 variants in ALS...
  22. doi request reprint TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
    Jemeen Sreedharan
    Department of Clinical Neuroscience, King s College London, Medical Research Council MRC Centre for Neurodegeneration Research, and Institute of Psychiatry, London, SE5 8AF, UK
    Science 319:1668-72. 2008
    ..Mutant forms of TDP-43 fragmented in vitro more readily than wild type and, in vivo, caused neural apoptosis and developmental delay in the chick embryo. Our evidence suggests a pathophysiological link between TDP-43 and ALS...
  23. pmc Credibility analysis of putative disease-causing genes using bioinformatics
    Olubunmi Abel
    King s Health Partners Centre for Neurodegeneration Research, King s College London, Department of Clinical Neuroscience, London, United Kingdom
    PLoS ONE 8:e64899. 2013
    ....
  24. pmc Homozygosity analysis in amyotrophic lateral sclerosis
    Kin Mok
    Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience, and Department of Clinical Neuroscience, UCL Institute of Neurology, Queen Square, London, UK
    Eur J Hum Genet 21:1429-35. 2013
    ..There are more than twenty potential genes in these regions. These findings point to further possible rare recessive genetic causes of ALS, which are not identified as common variants in GWAS. ..
  25. doi request reprint Eating-derived pleasure in amyotrophic lateral sclerosis as a predictor of non-oral feeding
    Julia Johnson
    Speech and Language Therapy Department, King s College Hospital, London, UK
    Amyotroph Lateral Scler 13:555-9. 2012
    ..2 = 10(-4))...
  26. pmc The risk to relatives of patients with sporadic amyotrophic lateral sclerosis
    Martha F Hanby
    MRC Centre for Neurodegeneration Research, Institute of Psychiatry P 041, London SE5 8AF, UK
    Brain 134:3454-7. 2011
    ..In practice, this means the risk of remaining unaffected by age 85 dropped from 99.7% to 97.6%. Relatives of people with sporadic amyotrophic lateral sclerosis have a small but definite increased risk of being affected...
  27. pmc Latent cluster analysis of ALS phenotypes identifies prognostically differing groups
    Jeban Ganesalingam
    Department of Clinical Neuroscience, MRC Centre for Neurodegeneration Research, King s College London, Institute of Psychiatry, London, United Kingdom
    PLoS ONE 4:e7107. 2009
    ..We used latent cluster analysis to identify groupings of clinical variables in an objective and unbiased way to improve phenotyping for clinical and research purposes...
  28. doi request reprint Low index-to-ring finger length ratio in sporadic ALS supports prenatally defined motor neuronal vulnerability
    Umesh Vivekananda
    King s College London School of Medicine, London, UK
    J Neurol Neurosurg Psychiatry 82:635-7. 2011
    ....
  29. doi request reprint Genetic studies of amyotrophic lateral sclerosis: controversies and perspectives
    Ana Beleza-Meireles
    MRC Centre for Neurodegeneration Research, King s College London Institute of Psychiatry, UK
    Amyotroph Lateral Scler 10:1-14. 2009
    ..In this review we examine the evidence for a genetic basis to ALS, discuss the challenges and difficulties faced and summarize the support for the reported genetic causes of ALS...
  30. ncbi request reprint Cortical involvement in four cases of primary lateral sclerosis using [(11)C]-flumazenil PET
    Martin R Turner
    Department of Neurology, The Radcliffe Infirmary, Oxford, UK
    J Neurol 254:1033-6. 2007
    ....
  31. ncbi request reprint Three soccer playing friends with simultaneous amyotrophic lateral sclerosis
    Paul Wicks
    MRC Centre for Neurodegeneration Research, King s College London, Institute of Psychiatry, Department of Psychology, London, UK
    Amyotroph Lateral Scler 8:177-9. 2007
    ..We report a cluster of three amateur league soccer players who were friends from the same part of southern England, and developed ALS simultaneously. This might suggest that keen amateur soccer players are also at risk...
  32. doi request reprint Mushroom-cage gastrostomy tube placement in patients with amyotrophic lateral sclerosis: a 5-year experience in 104 patients in a single institution
    Dylan Lewis
    Department of Radiology, King s College Hospital, Denmark Hill, London, SE5 9RS, UK
    Eur Radiol 19:1763-71. 2009
    ..5 days (range 43-537 days). A mushroom-cage RIG tube may be safely and effectively inserted in a 'one-step' radiological procedure and may replace endoscopic-inserted gastrostomy tubes in the nutritional management of ALS...
  33. doi request reprint Is language impairment more common than executive dysfunction in amyotrophic lateral sclerosis?
    Lorna J Taylor
    King s College London, Institute of Psychiatry, Department of Psychology, London, UK
    J Neurol Neurosurg Psychiatry 84:494-8. 2013
    ..Systematic explorations of language abilities in patients with amyotrophic lateral sclerosis (ALS) are lacking in the context of wider cognitive change...
  34. doi request reprint Prognostic categories for amyotrophic lateral sclerosis
    William J Scotton
    MRC Centre for Neurodegeneration Research, King s College London, Institute of Psychiatry, London, UK
    Amyotroph Lateral Scler 13:502-8. 2012
    ..In conclusion, it is possible to correctly classify patients into prognostic categories using clinical data easily available at time of diagnosis...
  35. doi request reprint Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patients
    Jack W Miller
    Centre for Neurodegeneration Research, Department of Clinical Neuroscience, Institute of Psychiatry, King s College London, London, UK
    Neurobiol Aging 33:2721.e1-2. 2012
    ..This study failed to detect any exonic variations in a subset of British familial and sporadic ALS patients...
  36. doi request reprint ALSOD: the Amyotrophic Lateral Sclerosis Online Database
    Richard Wroe
    Department of Neuroscience, MRC Centre for Neurodegeneration Research, King s College London, Institute of Psychiatry, London, UK
    Amyotroph Lateral Scler 9:249-50. 2008
    ..Additionally, ALSOD now provides a more comprehensive knowledge base for ALS, detailing genetic, proteomic, and bioinformatics information associated with the disease. ALSOD can be accessed at http://alsod.iop.kcl.ac.uk/als/...
  37. pmc A central resource for accurate allele frequency estimation from pooled DNA genotyped on DNA microarrays
    Claire L Simpson
    Department of Neurology, PO43, Institute of Psychiatry London SE5 8AF, UK
    Nucleic Acids Res 33:e25. 2005
    ....
  38. ncbi request reprint Volumetric cortical loss in sporadic and familial amyotrophic lateral sclerosis
    Martin R Turner
    Department of Neurology, John Radcliffe Hospital, Oxford, UK
    Amyotroph Lateral Scler 8:343-7. 2007
    ..This study provides further evidence for a different pattern of cortical neuronal vulnerability in homD90A versus SALS patients that may provide insight as to their slower rate of disease progression...
  39. doi request reprint Interaction between PON1 and population density in amyotrophic lateral sclerosis
    Frank P Diekstra
    MRC Centre for Neurodegeneration Research, King s College London, Institute of Psychiatry, London, UK
    Neuroreport 20:186-90. 2009
    ..A case-only analysis was carried out and median population density was used to categorize patients into rural or urban environments. We found a significant interaction with population density for marker rs854560 (L55M) in ALS...
  40. doi request reprint Genetic and epigenetic studies of amyotrophic lateral sclerosis
    Ammar Al-Chalabi
    King s College London, Institute of Psychiatry, Department of Clinical Neuroscience, London, UK
    Amyotroph Lateral Scler Frontotemporal Degener 14:44-52. 2013
    ..The increasing rate of genetic discoveries brings the hope of designing more targeted and efficacious therapies...
  41. doi request reprint The genetics and neuropathology of amyotrophic lateral sclerosis
    Ammar Al-Chalabi
    Department of Clinical Neuroscience, King s College London, Institute of Psychiatry, De Crespigny Park, London, SE5 8AF, UK
    Acta Neuropathol 124:339-52. 2012
    ..In this review, we explore the genetic architecture of ALS, highlight some of the genes implicated in pathogenesis, and describe their phenotypic range and overlap with other diseases...
  42. pmc Protocol for a double-blind randomised placebo-controlled trial of lithium carbonate in patients with amyotrophic lateral sclerosis (LiCALS) [Eudract number: 2008-006891-31]
    Ammar Al-Chalabi
    MRC Centre for Neurodegeneration Research, King s College London, Department of Clinical Neuroscience, London SE5 8AF, UK
    BMC Neurol 11:111. 2011
    ..Although the trial can be criticised on several grounds, there is a substantial rationale from other laboratory studies that lithium is worth investigating therapeutically in amyotrophic lateral sclerosis...
  43. pmc Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study
    Aleksey Shatunov
    King s College London, Medical Research Council Centre for Neurodegeneration Research, Department of Clinical Neuroscience, Institute of Psychiatry, London, UK
    Lancet Neurol 9:986-94. 2010
    ....
  44. pmc Loss and gain of Drosophila TDP-43 impair synaptic efficacy and motor control leading to age-related neurodegeneration by loss-of-function phenotypes
    Danielle C Diaper
    Department of Neuroscience, Institute of Psychiatry, MRC Centre for Neurodegeneration Research, King s College London, London SE5 8AF, UK
    Hum Mol Genet 22:1539-57. 2013
    ....
  45. doi request reprint p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS
    Safa Al-Sarraj
    Department of Clinical Neuropathology, Kings College Hospital, Denmark Hill, London SE5 9RS, UK
    Acta Neuropathol 122:691-702. 2011
    ..Our results suggest that proteins other than TDP-43 are binding p62 and aggregating in response to the mutation which may play a mechanistic role in neurodegeneration...
  46. doi request reprint The sex ratio in amyotrophic lateral sclerosis: A population based study
    Zita R Manjaly
    King s College Hospital, London, UK
    Amyotroph Lateral Scler 11:439-42. 2010
    ..We concluded that sex ratios in ALS may change with age. Over-representation of younger patients in clinic registers may explain the variation in sex ratios between studies. Menopause may also play a role...
  47. doi request reprint Meta-analysis of linkage studies for Alzheimer's disease--a web resource
    Amy W Butler
    King s College London, MRC Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, London, UK
    Neurobiol Aging 30:1037-47. 2009
    ..iop.kcl.ac.uk/) to present additional GSMA analyses with different study selection criteria, facilitate the reanalysis of genome-wide linkage data and provide open access to the GSMA data...
  48. pmc Amyotrophic lateral sclerosis with sensory neuropathy: part of a multisystem disorder?
    Jeremy D Isaacs
    King s College London MRC Centre for Neurodegeneration Research, Department of Neurology, Institute of Psychiatry, London, UK
    J Neurol Neurosurg Psychiatry 78:750-3. 2007
    ..These findings support the hypothesis that ALS is a multisystem neurodegenerative disorder that may occasionally include sensory neuropathy among its non-motor features...
  49. pmc Chromosome 9 ALS and FTD locus is probably derived from a single founder
    Kin Mok
    Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK
    Neurobiol Aging 33:209.e3-8. 2012
    ..The most parsimonious explanation of these data are that there is a single founder for this form of disease...
  50. doi request reprint Modelling the effects of penetrance and family size on rates of sporadic and familial disease
    Ammar Al-Chalabi
    Department of Clinical Neuroscience, Medical Research Council Centre for Neurodegeneration Research, London, UK
    Hum Hered 71:281-8. 2011
    ..We therefore explored the role of two key parameters that influence ascertainment, penetrance and family size, in rates of observed familiality...
  51. doi request reprint No association of DPP6 with amyotrophic lateral sclerosis in an Italian population
    Isabella Fogh
    MRC Centre for Neurodegeneration Research, King s College London, Institute of Psychiatry, UK
    Neurobiol Aging 32:966-7. 2011
    ..Minor allele frequency was 0.38 in cases and 0.39 in controls and no evidence of association with ALS was observed (P=0.638). Our negative results agree with those recently reported in additional Polish and Italian cohorts...
  52. ncbi request reprint Survival of patients with ALS following institution of enteral feeding is related to pre-procedure oximetry: a retrospective review of 98 patients in a single centre
    Ashley S Shaw
    Department of Radiology, King s College Hospital, London, UK
    Amyotroph Lateral Scler 7:16-21. 2006
    ..03; relative risk 1.97). It is concluded that RIG and PEG are equivalent in terms of post-procedure survival. Abnormal oximetry prior to the procedure is a significant indicator of post-procedure survival...
  53. ncbi request reprint Molecular insights and therapeutic targets in amyotrophic lateral sclerosis
    Vineeta B Tripathi
    MRC Centre for Neurodegeneration Research, King s College London, P 043 Institute of Psychiatry, London SE5 8AF, UK
    CNS Neurol Disord Drug Targets 7:11-9. 2008
    ..In this paper we will review current ideas about the causes of ALS and the therapeutic opportunities they suggest...
  54. ncbi request reprint Trouble on the pitch: are professional football players at increased risk of developing amyotrophic lateral sclerosis?
    Ammar Al-Chalabi
    Department of Clinical Neuroscience, Institute of Psychiatry P041 King s College London SE5 8AF, UK
    Brain 128:451-3. 2005
  55. ncbi request reprint MaGIC: a program to generate targeted marker sets for genome-wide association studies
    Claire L Simpson
    Institute of Psychiatry, Kings College London, London, UK
    Biotechniques 37:996-9. 2004
    ..The program and source code is freely available at http://cogent.iop.kcl.ac.uk/MaGIC.cogx...
  56. doi request reprint A case report of a family with overlapping features of autosomal dominant febrile seizures and GEFS+
    Neeti Hindocha
    Department of Clinical Neuroscience, Institute of Psychiatry, King s College London, London, United Kingdom
    Epilepsia 50:937-42. 2009
    ..The two mutations identified in families with ADFS are in genes implicated in GEFS+, SCN1A, and GABRG2. We conclude that it is inappropriate to separate GEFS+ and ADFS at present given the clinical and genotypic overlap...
  57. pmc Electrical injury and amyotrophic lateral sclerosis: a systematic review of the literature
    Kumar Abhinav
    Queen Elizabeth Hospital, London, UK
    J Neurol Neurosurg Psychiatry 78:450-3. 2007
    ..A non-progressive spinal cord syndrome is associated with more severe electrical injury. Overall, the evidence reviewed does not support a causal relationship between ALS and electric shock...
  58. ncbi request reprint Genotyping pooled DNA on microarrays: a systematic genome screen of thousands of SNPs in large samples to detect QTLs for complex traits
    Lee M Butcher
    Social, Genetic and Developmental Psychiatry Centre, Box Number P082, Institute of Psychiatry, De Crespigny Park, London, SE5 8AF, UK
    Behav Genet 34:549-55. 2004
    ..Thus, genotyping pooled DNA on microarrays can provide a systematic and powerful approach for identifying QTL associations for complex traits including behavioral dimensions and disorders...
  59. pmc Association of a Serotonin Receptor 2A Gene Polymorphism with Visual Sustained Attention in Early-Onset Schizophrenia Patients and their Non-Psychotic Siblings
    Nora S Vyas
    Child Psychiatry Branch, National Institutes of Health, National Institute of Mental Health, Bethesda, Maryland, USA MRC Social, Genetic and Developmental Psychiatry Centre, and Department of Psychosis Studies, Institute of Psychiatry, King s College London, UK
    Aging Dis 3:291-300. 2012
    ..There was no significant relationship between the polymorphism and clinical parameters, as measured using the PANSS. Our findings suggest that the C allele may be related to sustained attentional impairments in EOS...
  60. doi request reprint Association study on glutathione S-transferase omega 1 and 2 and familial ALS
    Elsmarieke van de Giessen
    Department of Neurology, Institute of Psychiatry, King s College London, London, UK
    Amyotroph Lateral Scler 9:81-4. 2008
    ..In the Swedish patients, association for age of onset was found with several SNPs (p = 0.003-0.048). These results suggest a possible effect of the GSTO1 and 2 locus on age of onset of FALS...
  61. ncbi request reprint VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death
    Diether Lambrechts
    The Center for Transgene Technology and Gene Therapy, Flanders Interuniversity Institute for Biotechnology and Department of Neurology, University Hospital Gasthuisberg, KU Leuven, Leuven, B 3000, Belgium
    Nat Genet 34:383-94. 2003
    ..These findings indicate that VEGF is a modifier of motoneuron degeneration in human ALS and unveil a therapeutic potential of Vegfa for stressed motoneurons in mice...
  62. doi request reprint Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an SCN1A mutation
    Neeti Hindocha
    Epilepsia 49:360-5. 2008
  63. ncbi request reprint Susceptibility genes in sporadic ALS: separating the wheat from the chaff by international collaboration
    Christopher E Shaw
    Neurology 67:738-9. 2006
  64. pmc A common haplotype within the PON1 promoter region is associated with sporadic ALS
    John E Landers
    Cecil B Day Laboratory for Neuromuscular Research, Massachusetts General Hospital East, Charlestown, MA, USA
    Amyotroph Lateral Scler 9:306-14. 2008
    ..75E-05). We conclude that a common haplotype within the PON1 promoter region is associated with susceptibility to sporadic ALS...
  65. ncbi request reprint Age at onset in sod1-mediated amyotrophic lateral sclerosis shows familiality
    Isabella Fogh
    Neurogenetics 8:235-6. 2007
  66. ncbi request reprint Early symptom progression rate is related to ALS outcome: a prospective population-based study
    Martin Turner
    Neurology 59:2012-3; author reply 2013. 2002
  67. ncbi request reprint Variants in the ALS2 gene are not associated with sporadic amyotrophic lateral sclerosis
    Ammar Al-Chalabi
    Neurogenetics 4:221-2. 2003
  68. ncbi request reprint The heterogeneity of amyotrophic lateral sclerosis: a possible explanation of treatment failure
    Ettore Beghi
    Istituto di Ricerche Farmacologiche Mario Negri, Via La Masa 19, 20156 Milano, Italy
    Curr Med Chem 14:3185-200. 2007
    ....
  69. ncbi request reprint A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population
    Agnes L Nishimura
    Human Genome Research Center, Biosciences Institute, University of Sao Paulo, Rua do Matao, 277, sala 211, Cidade Universitaria, Sao Paulo, Brazil, CEP 05508 090
    Hum Genet 118:499-500. 2005
    ..Haplotype analysis shows a common founder for all families regardless of ancestry, with a founding event 23 generations ago (95% CI 13-39), consistent with the Portuguese colonization of Brazil...
  70. ncbi request reprint Amyotrophic lateral sclerosis in an urban setting: a population based study of inner city London
    Clare A Johnston
    J Neurol 253:1642-3. 2006