Cooper-Knock, Johnathan: search on Z-Library

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1

The use of subcutaneous glycopyrrolate in the management of sialorrhoea and facilitating the use of non-invasive ventilation in amyotrophic lateral sclerosis

Cooper-Knock, Johnathan, Ahmedzai, Sam H., Shaw, Pamela

Journal:

Amyotrophic Lateral Sclerosis

Year:

2011

Language:

english

File:

PDF, 50 KB

english, 2011

2

Gene expression profiling in human neurodegenerative disease

Cooper-Knock, Johnathan, Kirby, Janine, Ferraiuolo, Laura, Heath, Paul R., Rattray, Magnus, Shaw, Pamela J.

Journal:

Nature Reviews Neurology (formerly Nature Clinical Practice Neurology)

Year:

2012

Language:

english

File:

PDF, 1000 KB

english, 2012

3

Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat

Jones, Ashley R., Woollacott, Ione, Shatunov, Aleksey, Cooper-Knock, Johnathan, Buchman, Vladimir, Sproviero, William, Smith, Bradley, Scott, Kirsten M., Balendra, Rubika, Abel, Olubunmi, McGuffin, Pe

Journal:

Neurobiology of Aging

Year:

2013

Language:

english

File:

PDF, 787 KB

english, 2013

4

Disrupted glycosylation of lipids and proteins is a cause of neurodegeneration

Moll, Tobias, Shaw, Pamela J, Cooper-Knock, Johnathan

Journal:

Year:

2019

Language:

english

File:

PDF, 587 KB

english, 2019

5

Identification of single nucleotide variants in the Moroccan population by whole-genome sequencing

Crooks, Lucy, Cooper-Knock, Johnathan, Heath, Paul R., Bouhouche, Ahmed, Elfahime, Mostafa, Azzouz, Mimoun, Bakri, Youssef, Adnaoui, Mohammed, Ibrahimi, Azeddine, Amzazi, SaaÃ¯d, Tazi-Ahnini, Rachid

Journal:

Year:

2020

File:

PDF, 1.38 MB

2020

6

A data-driven approach links microglia to pathology and prognosis in amyotrophic lateral sclerosis

Cooper-Knock, Johnathan, Green, Claire, Altschuler, Gabriel, Wei, Wenbin, Bury, Joanna J., Heath, Paul R., Wyles, Matthew, Gelsthorpe, Catherine, Highley, J. Robin, Lorente-Pons, Alejandro, Beck, Tim,

Journal:

Acta Neuropathologica Communications

Year:

2017

Language:

english

File:

PDF, 1.08 MB

english, 2017

7

Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene

Cooper-Knock, Johnathan, Zhang, Sai, Kenna, Kevin P., Moll, Tobias, Franklin, John P., Allen, Samantha, Nezhad, Helia Ghahremani, Iacoangeli, Alfredo, Yacovzada, Nancy Y., Eitan, Chen, Hornstein, Eran

Journal:

Year:

2020

File:

PDF, 2.05 MB

2020

8

Clinical and Molecular Aspects of Motor Neuron Disease

Cooper-Knock, Johnathan, Jenkins, Thomas, Shaw, Pamela J.

Journal:

Colloquium Series on Genomic and Molecular Medicine

Year:

2013

Language:

english

File:

PDF, 4.27 MB

english, 2013

9

Oligogenic inheritance of optineurin ( OPTN ) and C9ORF72 mutations in ALS highlights localisation of OPTN in the TDP-43-negative inclusions of C9ORF72 -ALS

Bury, Joanna J., Highley, J. Robin, Cooper-Knock, Johnathan, Goodall, Emily F., Higginbottom, Adrian, McDermott, Christopher J., Ince, Paul G., Shaw, Pamela J., Kirby, Janine

Journal:

Year:

2016

Language:

english

File:

PDF, 648 KB

english, 2016

10

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

Vladimir L Buchman, Johnathan Cooper-Knock…

Journal:

Molecular Neurodegeneration

Year:

2013

Language:

english

File:

PDF, 458 KB

english, 2013

11

The Spectrum ofC9orf72-mediated Neurodegeneration and Amyotrophic Lateral Sclerosis

Cooper-Knock, Johnathan, Kirby, Janine, Highley, Robin, Shaw, Pamela J.

Journal:

Neurotherapeutics

Year:

2015

Language:

english

File:

PDF, 976 KB

english, 2015

12

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

Cooper-Knock, Johnathan, Bury, Joanna J., Heath, Paul R, Wyles, Matthew, Higginbottom, Adrian, Gelsthorpe, Catherine, Highley, J. Robin, Hautbergue, Guillaume, Rattray, Magnus, Kirby, Janine, Shaw, Pa

Journal:

Year:

2015

Language:

english

File:

PDF, 3.45 MB

english, 2015

13

Age-Associated mRNA and miRNA Expression Changes in the Blood-Brain Barrier

Goodall, Emily F., Leach, Vicki, Wang, Chunfang, Cooper-Knock, Johnathan, Heath, Paul R., Baker, David, Drew, David R., Saffrey, M. Jill, Simpson, Julie E., Romero, Ignacio A., Wharton, Stephen B.

Journal:

International Journal of Molecular Sciences

Year:

2019

Language:

english

File:

PDF, 3.29 MB

english, 2019

14

Long non-coding RNA Neat1 regulates adaptive behavioural response to stress in mice

Kukharsky, Michail S., Ninkina, Natalia N., An, Haiyan, Telezhkin, Vsevolod, Wei, Wenbin, Meritens, Camille Rabesahala de, Cooper-Knock, Johnathan, Nakagawa, Shinichi, Hirose, Tetsuro, Buchman, Vladim

Journal:

Translational Psychiatry

Year:

2020

File:

PDF, 2.48 MB

2020

15

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

Cooper-Knock, Johnathan, Highley, J Robin, Hartley, Judith, Milano, Antonio, Sawcer, Stephen, Compston, Alistair, Frolov, Antonina, Charlesworth, Gavin, Wood, Nicholas, Bandmann, Oliver, McDermott, Ch

Journal:

Year:

2013

Language:

english

File:

PDF, 53 KB

english, 2013

16

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

Highley, John Robin, Lorente Pons, Alejandro, Cooper-Knock, Johnathan, Wharton, Stephen B., Ince, Paul G., Shaw, Pamela J., Wood, Jon, Kirby, Janine

Journal:

Neuropathology and Applied Neurobiology

Year:

2016

Language:

english

File:

PDF, 21.79 MB

english, 2016

17

SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits

Hautbergue, Guillaume M., Castelli, Lydia M., Ferraiuolo, Laura, Sanchez-Martinez, Alvaro, Cooper-Knock, Johnathan, Higginbottom, Adrian, Lin, Ya-Hui, Bauer, Claudia S., Dodd, Jennifer E., Myszczynska

Journal:

Nature Communications

Year:

2017

Language:

english

File:

PDF, 2.29 MB

english, 2017

18

Multifaceted Genes in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia

Ranganathan, Ramya, Haque, Shaila, Coley, Kayesha, Shepheard, Stephanie, Cooper-Knock, Johnathan, Kirby, Janine

Journal:

Frontiers in Neuroscience

Year:

2020

File:

PDF, 2.02 MB

2020

19

Gamma-synuclein pathology in amyotrophic lateral sclerosis

Peters, Owen M., Shelkovnikova, Tatyana, Highley, John Robin, Cooper-Knock, Johnathan, Hortobágyi, Tibor, Troakes, Claire, Ninkina, Natalia, Buchman, Vladimir L.

Journal:

Annals of Clinical and Translational Neurology

Year:

2015

Language:

english

File:

PDF, 505 KB

english, 2015

20

Targeted Genetic Screen in Amyotrophic Lateral Sclerosis Reveals Novel Genetic Variants with Synergistic Effect on Clinical Phenotype

Cooper-Knock, Johnathan, Robins, Henry, Niedermoser, Isabell, Wyles, Matthew, Heath, Paul R., Higginbottom, Adrian, Walsh, Theresa, Kazoka, Mbombe, Ince, Paul G., Hautbergue, Guillaume M., McDermott,

Journal:

Frontiers in Molecular Neuroscience

Year:

2017

Language:

english

File:

PDF, 588 KB

english, 2017

21

Early Diagnosis of Horner Syndrome Using Topical Apraclonidine

Cooper-Knock, Johnathan, Pepper, Irene, Hodgson, Timothy, Sharrack, Basil

Journal:

Journal of Neuro-Ophthalmology

Year:

2011

Language:

english

File:

PDF, 210 KB

english, 2011

22

Antisense RNA foci in the motor neurons ofC9ORF72-ALS patients are associated with TDP-43 proteinopathy

Cooper-Knock, Johnathan, Higginbottom, Adrian, Stopford, Matthew J., Highley, J. Robin, Ince, Paul G., Wharton, Stephen B., Pickering-Brown, Stuart, Kirby, Janine, Hautbergue, Guillaume M., Shaw, Pame

Journal:

Acta Neuropathologica

Year:

2015

Language:

english

File:

PDF, 1.47 MB

english, 2015

23

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

Beer, Alexander M., Cooper-Knock, Johnathan, Higginbottom, Adrian, Highley, J. Robin, Wharton, Stephen B., Ince, Paul G., Milano, Antonio, Jones, Ashley A., Al-Chalabi, Ammar, Kirby, Janine, Shaw, Pam

Journal:

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Year:

2015

Language:

english

File:

PDF, 1.32 MB

english, 2015

24

Concurrent sodium channelopathies and amyotrophic lateral sclerosis supports shared pathogenesis

Franklin, John P., Cooper-Knock, Johnathan, Baheerathan, Aravindhan, Moll, Tobias, MÃ¤nnikkÃ¶, Roope, Heverin, Mark, Hardiman, Orla, Shaw, Pamela J., Hanna, Michael G.

Journal:

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Year:

2020

File:

PDF, 951 KB

2020

25

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, J. Robin, Kirby, Janine, Jansweijer, Joeri A., Webb, Philip S., Hewamadduma, Channa A., Heath, Paul R., Higginbottom, Adrian, Raman, Rohini, Ferraiuolo, Laura, Cooper-Knock, Johnathan, McDerm

Journal:

Neuropathology and Applied Neurobiology

Year:

2014

Language:

english

File:

PDF, 1.03 MB

english, 2014

26

C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten

Stopford, Matthew J., Higginbottom, Adrian, Hautbergue, Guillaume M., Cooper-Knock, Johnathan, Mulcahy, Padraig J., De Vos, Kurt J., Renton, Alan E., Pliner, Hannah, Calvo, Andrea, Chio, Adriano, Tray

Journal:

Human Molecular Genetics

Year:

2017

Language:

english

File:

PDF, 1.25 MB

english, 2017

27

Whole Genome Sequencing in an Acrodermatitis Enteropathica Family from the Middle East

Abu-Duhier, Faisel, Pooranachandran, Vivetha, McDonagh, Andrew J. G., Messenger, Andrew G., Cooper-Knock, Johnathan, Bakri, Youssef, Heath, Paul R., Tazi-Ahnini, Rachid

Journal:

Dermatology Research and Practice

Year:

2018

Language:

english

File:

PDF, 1.78 MB

english, 2018

28

Case report of concurrent Fabry disease and amyotrophic lateral sclerosis supports a common pathway of pathogenesis

Beer, Alexander M., Cooper-Knock, Johnathan, Fletcher, Sakina, Brown-Wright, Sian Heledd, Nandakumar, T Pisharam, Shaw, Pamela J.

Journal:

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Year:

2016

Language:

english

File:

PDF, 556 KB

english, 2016

29

The widening spectrum ofC9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype

Cooper-Knock, Johnathan, Shaw, Pamela J., Kirby, Janine

Journal:

Acta Neuropathologica

Year:

2014

Language:

english

File:

PDF, 688 KB

english, 2014

30

Concurrent amyotrophic lateral sclerosis and cystic fibrosis supports common pathways of pathogenesis

Lo, Christine, Cooper-Knock, Johnathan, Garrard, Kate, Martindale, Joanne, Williams, Timothy, Shaw, Pamela

Journal:

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Year:

2013

Language:

english

File:

PDF, 132 KB

english, 2013

31

Transcriptomic Analysis of Age-Associated Periventricular Lesions Reveals Dysregulation of the Immune Response

Fadul, Motaz M., Heath, Paul R., Cooper-Knock, Johnathan, Kurz, Julian M., Al-Azzawi, Hayder A., Ali, Zarki, Smith, Taylor, Matthews, Fiona E., Brayne, Carol, Wharton, Stephen B., Simpson, Julie E.

Journal:

International Journal of Molecular Sciences

Year:

2020

File:

PDF, 2.19 MB

2020

32

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

Walsh, Matthew J., Cooper-Knock, Johnathan, Dodd, Jennifer E., Stopford, Matthew J., Mihaylov, Simeon R., Kirby, Janine, Shaw, Pamela J., Hautbergue, Guillaume M.

Journal:

Neuropathology and Applied Neurobiology

Year:

2015

Language:

english

File:

PDF, 1.31 MB

english, 2015

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