ALS Core clinical dataset

SOP Brain dissection

SOP Blood & urine sample collection

SOP DNA purification


Sensitivity of MUP parameters in detecting change in early ALS - M. de Carvalho, A. Turkman, M. Swash - Clinical Neurophysiology, 2013

Comparison of blood RNA extraction methods used for gene expression profiling in amyotrophic lateral sclerosis (in press) - N. Bayatti, J. Cooper-Knock, J.J. Bury, M. Wyles, P.R. Heath, J. Kirby and P.J. Shaw - PLoS One (E-pub 27 Jan 2014)

C9ORF72 expansions, parkinsonism, and Parkinson disease: a clinicopathologic study - J. Cooper-Knock, A. Frolov, J.R. Highley, G. Charlesworth, J. Kirby et al. - Neurology 81: 808-11, 2013a

C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles - J. Cooper-Knock, A. Higginbottom, N. Connor-Robson, N. Bayatti, J. Bury et al. - Neurology 81: 1719-21, 2013b

Neuronal dark matter: the emerging role of microRNAs in neurodegeneration - E.F. Goodall, P.R. Heath, O. Bandmann, J. Kirby, P.J. Shaw - Front Cell Neurosci 7: 178, 2013

Investigating cell death mechanisms in amyotrophic lateral sclerosis using transcriptomics - P.R. Heath, J. Kirby, P.J. Shaw - Front Cell Neurosci 7: 259, 2013

Multicenter quality control evaluation of different biomarker candidates for amyotrophic lateral sclerosis - Lehnert et al - Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 2014

The Edinburgh Cognitive and Behavioural Amyotrophic Lateral Sclerosis Screen: A cross-sectional comparison of established screening tools in a German-Swiss population - Lule et al - Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 2014

Ensuring continued progress in biomarkers for amyotrophic lateral sclerosis - Turner MR, Benatar M - Muscle Nerve 2015

Voxel-Based MRI Intensitometry Reveals Extent of Cerebral White Matter Pathology in Amyotrophic Lateral Sclerosis - Hartung et al - PlosOne 2014

Comparison of blood RNA extraction methods used for gene expression profiling in amyotrophic lateral sclerosis - Bayatti N, Cooper-Knock J, Bury JJ, Wyles M, Heath PR, Kirby J, Shaw PJ - PLoS One 9: e87508

Intermediate length C9orf72 expansion in an ALS patient without classical C9orf72 neuropathology - Beer AM, Cooper-Knock J, Higginbottom A, Highley JR, Wharton SB, Ince PG, Milano A, Jones AA, Al-Chalabi A, Kirby J, Shaw PJ - Amyotroph Lateral Scler Frontotemporal Degener. 2014 Dec 1:1-3

The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype - Cooper-Knock J, Shaw PJ, Kirby J - Acta Neuropathol 127: 333-45 2014

Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions - Cooper-Knock J, Walsh MJ, Higginbottom A, Robin Highley J, Dickman MJ, Edbauer D, Ince PG, Wharton SB, Wilson SA, Kirby J, Hautbergue GM, Shaw PJ - Brain 137: 2040-512014

TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions - Gallagher MD, Suh E, Grossman M, Elman L, McCluskey L, Van Swieten JC, Al-Sarraj S, Neumann M, Gelpi E, Ghetti B, Rohrer JD, Halliday G, Van Broeckhoven C, Seilhean D, Shaw PJ, Frosch MP, Alafuzoff I, Antonell A, Bogdanovic N, Brooks W, Cairns NJ, Cooper-Knock J, Cotman C, Cras P, Cruts M, De Deyn PP, DeCarli C, Dobson-Stone C, Engelborghs S, Fox N, Galasko D, Gearing M, Gijselinck I, Grafman J, Hartikainen P, Hatanpaa KJ, Highley JR, Hodges J, Hulette C, Ince PG, Jin LW, Kirby J, Kofler J, Kril J, Kwok JB, Levey A, Lieberman A, Llado A, Martin JJ, Masliah E, McDermott CJ, McKee A, McLean C, Mead S, Miller CA, Miller J, Munoz DG, Murrell J, Paulson H, Piguet O, Rossor M, Sanchez-Valle R, Sano M, Schneider J, Silbert LC, Spina S, van der Zee J, Van Langenhove T, Warren J, Wharton SB, White CL, 3rd, Woltjer RL, Trojanowski JQ, Lee VM, Van Deerlin V, Chen-Plotkin AS - Acta Neuropathol 127: 407-18 2014

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 - Highley JR, Kirby J, Jansweijer JA, Webb PS, Hewamadduma CA, Heath PR, Higginbottom A, Raman R, Ferraiuolo L, Cooper-Knock J, McDermott CJ, Wharton SB, Shaw PJ, Ince PG - Neuropathol Appl Neurobiol 40: 670-85 2014

Gene expression signatures in motor neuron disease fibroblasts reveal dysregulation of metabolism, hypoxia-response and RNA processing functions - Raman R, Allen SP, Goodall EF, Kramer S, Ponger LL, Heath PR, Milo M, Hollinger HC, Walsh T, Highley JR, Olpin S, McDermott CJ, Shaw PJ, Kirby J - Neuropathol Appl Neurobiol. 2014

Decoding the pathophysiological mechanisms that underlie RNA dysregulation in neurodegenerative disorders: a review of the current state of the art - Walsh MJ, Cooper-Knock J, Dodd JE, Stopford MJ, Mihaylov SR, Kirby J, Shaw PJ, Hautbergue GM - Neuropathol Appl Neurobiol. 2014

SOPHIA is funded through the EU Joint Programme - Neurodegenerative Disease Research (JPND)

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