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by Farmery, James H. R and Smith, Mike L and Huissoon, Aarnoud and Furnell, Abigail and Mead, Adam and Levine, Adam P and Manzur, Adnan and Thrasher, Adrian and Greenhalgh, Alan and Parker, Alasdair and Sanchis-Juan, Alba and Richter, Alex and Gardham, Alice and Lawrie, Allan and Sohal, Aman and Creaser-Myers, Amanda and Frary, Amy and Greinacher, Andreas and Themistocleous, Andreas and Peacock, Andrew J and Marshall, Andrew and Mumford, Andrew and Rice, Andrew and Webster, Andrew and Brady, Angie and Koziell, Ania and Manson, Ania and Chandra, Anita and Hensiek, Anke and Veld, Anna Huis In'T and Maw, Anna and Kelly, Anne M and Moore, Anthony and Vonk Noordegraaf, Anton and Attwood, Antony and Herwadkar, Archana and Ghofrani, Ardi and Houweling, Arjan C and Girerd, Barbara and Furie, Bruce and Treacy, Carmen M and Millar, Carolyn M and Sewell, Carrock and Roughley, Catherine and Titterton, Catherine and Williamson, Catherine and Hadinnapola, Charaka and Deshpande, Charu and Toh, Cheng-Hock and Bacchelli, Chiara and Patch, Chris and Geet, Chris Van and Babbs, Christian and Bryson, Christine and Penkett, Christopher J and Rhodes, Christopher J and Watt, Christopher and Bethune, Claire and Booth, Claire and Lentaigne, Claire and McJannet, Coleen and Church, Colin and French, Courtney and Samarghitean, Crina and Halmagyi, Csaba and Gale, Daniel and Greene, Daniel and Hart, Daniel and Allsup, David and Bennett, David and Edgar, David and Kiely, David G and Gosal, David and Perry, David J and Keeling, David and Montani, David and Shipley, Debbie and Whitehorn, Deborah and Fletcher, Debra and Krishnakumar, Deepa and Grozeva, Detelina and Kumararatne, Dinakantha and Thompson, Dorothy and Josifova, Dragana and Maher, Eamonn and Wong, Edwin K. S and Murphy, Elaine and Dewhurst, Eleanor and Louka, Eleni and Rosser, Elisabeth and Chalmers, Elizabeth and Colby, Elizabeth and Drewe, Elizabeth and McDermott, Elizabeth and Thomas, Ellen and Staples, Emily and Clement, Emma and Matthews, Emma and Wakeling, Emma and Oksenhendler, Eric and ... and NIHR BioResource-Rare Dis and NIHR BioResource - Rare Diseases
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 1300 - 17
Telomere length is a risk factor in disease and the dynamics of telomere length are crucial to our understanding of cell replication and vitality. The... 
MULTIDISCIPLINARY SCIENCES | DISEASE | Telomeres | Ploidy | Computer applications | Data processing | Genomes | Chromosomes | Telomerase | Genotypes | Cancer | Index Medicus
Journal Article
by van Schaik, Ivo N and Mielke, Orell and Sabet, Arman and George, Koshy and Roberts, Leslie and Carne, Ross and Blum, Stefan and Henderson, Robert and Van Damme, Philip and Demeestere, Jelle and Larue, Sandrine and Pinard D'Amour, Catherine-Andree and Bril, Vera and Breiner, Ari and Kunc, Pavel and Valis, Martin and Sussova, Jana and Kalous, Tomas and Talab, Radomir and Bednar, Michal and Toomsoo, Toomas and Rubanovits, Inna and Gross-Paju, Katrin and Sorro, Ulvi and Saarela, Mika and Auranen, Mari and Pouget, Jean and Attarian, Shahram and Le Masson, Gwendal and Wielanek-Bachelet, Anne-Cécile and Desnuelle, Claude and Delmont, Emilien and Clavelou, Pierre and Aufauvre, Dominique and Schmidt, Jens and Zschuentssch, Jana and Sommer, Claudia and Kramer, Daniela and Hoffmann, Olaf and Goerlitz, Carsten and Haas, Judith and Chatzopoulos, Marko and Yoon, Min-Suk and Gold, Ralf and Berlit, Peter and Jaspert-Grehl, Andrea and Liebetanz, David and Kutschenko, Anna and Stangel, Martin and Trebst, Corinna and Baum, Petra and Then Bergh, Florian and Klehmet, Juliane and Meisel, Andreas and Klostermann, Fabian and Oechtering, Johanna and Lehmann, Helmar and Schroeter, Michael and Hagenacker, Tim and Mueller, Daniel and Sperfeld, Anne-Dorte and Bethke, Florian and Hartung, Hans-Peter and Drory, Vivian and Algom, Avi and Yarnitsky, David and Murinson, Beth Brianna and Di Muzio, Antonio and Ciccocioppo, Fausta and Sorbi, Sandro and Mata, Sabrina and Schenone, Angelo and Grandis, Marina and Lauria, Giuseppe and Cazzato, Daniele and Antonini, Giovanni and Morino, Stefania and Cocito, Dario and Zibetti, Maurizio and Yokota, Takanori and Ohkubo, Takuya and Kanda, Takashi and Kawai, Motoharu and Kaida, Kenichi and Onoue, Hiroyuki and Kuwabara, Satoshi and Mori, Masahiro and Iijima, Masahiro and Ohyama, Ken and Sobue, Gen and Baba, Masayuki and Tomiyama, Masahiko and Nishiyama, Kazutoshi and Akutsu, Tsugio and Yokoyama, Kazumasa and Kanai, Kazuaki and Eftimov, Filip and Notermans, Nicolette. C and Visser, Nora. A and Faber, Catharina and ... and PATH study group
The Lancet Neurology, ISSN 1474-4422, 05/2018, Volume 17, Issue 5, pp. 393 - 394
In the ICE trial (intravenous immune globulin [10% caprylate-chromatography purified] for the treatment of CIPD),2 the absolute risk reduction for relapse with... 
Administration, Intravenous | Immunoglobulins, Intravenous | Immunoglobulins | Intravenous administration | Index Medicus
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 12/2017, Volume 88, Issue Suppl 1, pp. A15 - A15
Nitrous oxide (NO) is an increasingly used recreational drug amongst the young. Six patients presented to our unit with varying neurological presentations... 
Nitrous oxide
Journal Article
by Ito, Yoko and Carss, Keren J and Duarte, Sofia T and Hartley, Taila and Keren, Boris and Kurian, Manju A and Marey, Isabelle and Charles, Perinne and Mendonça, Carla and Nava, Caroline and Pfundt, Rolph and Sanchis-Juan, Alba and van Bokhoven, Hans and van Essen, Anthony and van Ravenswaaij-Arts, Conny and Aitman, Timothy and Bennett, David and Caulfield, Mark and Chinnery, Patrick and Gale, Daniel and Koziell, Ania and Kuijpers, Taco W and Laffan, Michael A and Maher, Eamonn and Markus, Hugh S and Morrell, Nicholas W and Ouwehand, Willem H and Perry, David J and Raymond, F. Lucy and Roberts, Irene and Smith, Kenneth G.C and Thrasher, Adrian and Watkins, Hugh and Williamson, Catherine and Woods, Geoffrey and Ashford, Sofie and Bradley, John R and Fletcher, Debra and Hammerton, Tracey and James, Roger and Kingston, Nathalie and Penkett, Christopher J and Stirrups, Kathleen and Veltman, Marijke and Young, Tim and Brown, Matthew and Clements-Brod, Naomi and Davis, John and Dewhurst, Eleanor and Dolling, Helen and Erwood, Marie and Frary, Amy and Linger, Rachel and Martin, Jennifer M and Papadia, Sofia and Rehnstrom, Karola and Stark, Hannah and Allsup, David and Austin, Steve and Bakchoul, Tamam and Bariana, Tadbir K and Bolton-Maggs, Paula and Chalmers, Elizabeth and Collins, Janine and Collins, Peter and Erber, Wendy N and Everington, Tamara and Favier, Remi and Freson, Kathleen and Furie, Bruce and Gattens, Michael and Gebhart, Johanna and Gomez, Keith and Greene, Daniel and Greinacher, Andreas and Gresele, Paolo and Hart, Daniel and Heemskerk, Johan W.M and Henskens, Yvonne and Kazmi, Rashid and Keeling, David and Kelly, Anne M and Lambert, Michele P and Lentaigne, Claire and Liesner, Ri and Makris, Mike and Mangles, Sarah and Mathias, Mary and Millar, Carolyn M and Mumford, Andrew and Nurden, Paquita and Payne, Jeanette and Pasi, John and Peerlinck, Kathelijne and Revel-Vilk, Shoshana and Richards, Michael and Rondina, Matthew and Roughley, Catherine and Schulman, Sol and Schulze, Harald and ... and Care4Rare Canada Consortium and NIHR BioResource
The American Journal of Human Genetics, ISSN 0002-9297, 07/2018, Volume 103, Issue 1, pp. 144 - 153
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 1 - 4
A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper. 
Ploidy | Genomes
Journal Article
by Farmery, JHR and Smith, ML and Lynch, AG and Huissoon, A and Furnell, A and Mead, A and Levine, AP and Manzur, A and Thrasher, A and Greenhalgh, A and Parker, A and Sanchis-Juan, A and Richter, A and Gardham, A and Lawrie, A and Sohal, A and Creaser-Myers, A and Frary, A and Greinacher, A and Themistocleous, A and Peacock, AJ and Marshall, A and Mumford, A and Rice, A and Webster, A and Brady, A and Koziell, A and Manson, A and Chandra, A and Hensiek, A and in't Veld, AH and Maw, A and Kelly, AM and Moore, A and Noordegraaf, AV and Attwood, A and Herwadkar, A and Ghofrani, A and Houweling, AC and Girerd, B and Furie, B and Treacy, CM and Millar, CM and Sewell, C and Roughley, C and Titterton, C and Williamson, C and Hadinnapola, C and Deshpande, C and Toh, CH and Bacchelli, C and Patch, C and Van Geet, C and Babbs, C and Bryson, C and Penkett, CJ and Rhodes, CJ and Watt, C and Bethune, C and Booth, C and Lentaigne, C and McJannet, C and Church, C and French, C and Samarghitean, C and Halmagyi, C and Gale, D and Greene, D and Hart, D and Allsup, D and Bennett, D and Edgar, D and Kiely, DG and Gosal, D and Perry, DJ and Keeling, D and Montani, D and Shipley, D and Whitehorn, D and Fletcher, D and Krishnakumar, D and Grozeva, D and Kumararatne, D and Thompson, D and Josifova, D and Maher, E and Wong, EKS and Murphy, E and Dewhurst, E and Louka, E and Rosser, E and Chalmers, E and Colby, E and Drewe, E and McDermott, E and Thomas, E and Staples, E and Clement, E and Matthews, E and Wakeling, E and ... and NIHR BioResource-Rare Dis
SCIENTIFIC REPORTS, ISSN 2045-2322, 09/2018, Volume 8
Journal Article
Journal Article
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, ISSN 0022-3050, 12/2017, Volume 88, Issue 12, pp. A15 - A15
Conference Proceeding
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 11/2013, Volume 84, Issue 11, pp. e2 - e2
This retrospective study characterised 98 patients with a clinical diagnosis of small fibre neuropathy and assessed how they were investigated against... 
SURGERY | PSYCHIATRY | CLINICAL NEUROLOGY | Medical protocols | Evaluation | Care and treatment | Usage | Biopsy | Skin | Diagnosis | Peripheral nerve diseases
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 11/2013, Volume 84, Issue 11, pp. e2 - e2
We report a case of a 40 years old male who presented with ascending weakness and sphincter involvement. While in hospital, he became quadriplegic and... 
SURGERY | PSYCHIATRY | CLINICAL NEUROLOGY | Complications and side effects | Neuromyelitis optica | Quadriplegia | Risk factors
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 12/2017, Volume 88, Issue Suppl 1, pp. A44 - A44
BackgroundAntibodies against the voltage-gated potassium channel (VGKC) complex are typically associated with neuromyotonia, Morvan’s syndrome, limbic... 
Immunoglobulins | Neurological disorders
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2011, Volume 89, Issue 3, pp. 398 - 406
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 10/2018, Volume 89, Issue 10, pp. A18 - A18
Voltage-gated potassium channel (VGKC) complex antibodies have been associated with a spectrum of presentations including peripheral nerve hyperexcitability... 
Psychosis | Immunoglobulins | Potassium | Epilepsy
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 12/2016, Volume 87, Issue 12, pp. e1 - e1
BackgroundThis study reports the complication rate of intravenous immunoglobulin in patients with inflammatory neuropathy in a tertiary neurology centre over 5... 
SURGERY | PSYCHIATRY | CLINICAL NEUROLOGY
Journal Article
by Rhodes, Christopher J and Batai, Ken and Bleda, Marta and Haimel, Matthias and Southgate, Laura and Germain, Marine and Pauciulo, Michael W and Hadinnapola, Charaka and Aman, Jurjan and Girerd, Barbara and Arora, Amit and Knight, Jo and Hanscombe, Ken B and Karnes, Jason H and Kaakinen, Marika and Gall, Henning and Ulrich, Anna and Harbaum, Lars and Cebola, Inês and Ferrer, Jorge and Lutz, Katie and Swietlik, Emilia M and Ahmad, Ferhaan and Amouyel, Philippe and Archer, Stephen L and Argula, Rahul and Austin, Eric D and Badesch, David and Bakshi, Sahil and Barnett, Christopher and Benza, Raymond and Bhatt, Nitin and Bogaard, Harm J and Burger, Charles D and Chakinala, Murali and Church, Colin and Coghlan, John G and Condliffe, Robin and Corris, Paul A and Danesino, Cesare and Debette, Stéphanie and Elliott, C Gregory and Elwing, Jean and Eyries, Melanie and Fortin, Terry and Franke, Andre and Frantz, Robert P and Frost, Adaani and Garcia, Joe G N and Ghio, Stefano and Ghofrani, Hossein-Ardeschir and Gibbs, J Simon R and Harley, John and He, Hua and Hill, Nicholas S and Hirsch, Russel and Houweling, Arjan C and Howard, Luke S and Ivy, Dunbar and Kiely, David G and Klinger, James and Kovacs, Gabor and Lahm, Tim and Laudes, Matthias and Machado, Rajiv D and MacKenzie Ross, Robert V and Marsolo, Keith and Martin, Lisa J and Moledina, Shahin and Montani, David and Nathan, Steven D and Newnham, Michael and Olschewski, Horst and Olschewski, Andrea and Oudiz, Ronald J and Ouwehand, Willem H and Peacock, Andrew J and Pepke-Zaba, Joanna and Rehman, Zia and Robbins, Ivan and Roden, Dan M and Rosenzweig, Erika B and Saydain, Ghulam and Scelsi, Laura and Schilz, Robert and Seeger, Werner and Shaffer, Christian M and Simms, Robert W and Simon, Marc and Sitbon, Olivier and Suntharalingam, Jay and Tang, Haiyang and Tchourbanov, Alexander Y and Thenappan, Thenappan and Torres, Fernando and Toshner, Mark R and Treacy, Carmen M and Vonk Noordegraaf, Anton and Waisfisz, Quinten and Walsworth, Anna K and ... and US PAH Biobank Consortium and UK PAH Cohort Study Consortium and UK NIHR Bioresource Rare Dis Conso and UK NIHR BioResource Rare Diseases Consortium
The Lancet Respiratory Medicine, ISSN 2213-2600, 03/2019, Volume 7, Issue 3, pp. 227 - 238
Rare genetic variants cause pulmonary arterial hypertension, but the contribution of common genetic variation to disease risk and natural history is poorly... 
SOX17 | ENDODERM FORMATION | RESPIRATORY SYSTEM | SUSCEPTIBILITY | DISEASE | ALPHA | CRITICAL CARE MEDICINE | Life Sciences
Journal Article