עקוב אחר
Thomas Cullup
Thomas Cullup
Clinical Scientist, Great Ormond Street Hospital
כתובת אימייל מאומתת בדומיין gosh.nhs.uk
כותרת
צוטט על ידי
צוטט על ידי
שנה
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis
PD Kelsell, EE Norgett, H Unsworth, MT Teh, T Cullup, CA Mein, ...
The American Journal of Human Genetics 76 (5), 794-803, 2005
4332005
RYR1 mutations are a common cause of congenital myopathies with central nuclei
JM Wilmshurst, S Lillis, H Zhou, K Pillay, H Henderson, W Kress, ...
Annals of neurology 68 (5), 717-726, 2010
2822010
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy
T Cullup, AL Kho, C Dionisi-Vici, B Brandmeier, F Smith, Z Urry, ...
Nature genetics 45 (1), 83-87, 2013
2752013
Pandemic peak SARS-CoV-2 infection and seroconversion rates in London frontline health-care workers
CF Houlihan, N Vora, T Byrne, D Lewer, G Kelly, J Heaney, S Gandhi, ...
The Lancet 396 (10246), e6-e7, 2020
2452020
Congenital myopathies–clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom
L Maggi, M Scoto, S Cirak, SA Robb, A Klein, S Lillis, T Cullup, L Feng, ...
Neuromuscular Disorders 23 (3), 195-205, 2013
1512013
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
C Olcese, MP Patel, A Shoemark, S Kiviluoto, M Legendre, HJ Williams, ...
Nature communications 8 (1), 14279, 2017
1432017
Congenital myopathies: natural history of a large pediatric cohort
I Colombo, M Scoto, AY Manzur, SA Robb, L Maggi, V Gowda, T Cullup, ...
Neurology 84 (1), 28-35, 2015
1362015
Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies
SA Robb, CA Sewry, JJ Dowling, L Feng, T Cullup, S Lillis, S Abbs, ...
Neuromuscular Disorders 21 (6), 379-386, 2011
1182011
Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies
SA Robb, CA Sewry, JJ Dowling, L Feng, T Cullup, S Lillis, S Abbs, ...
Neuromuscular Disorders 21 (6), 379-386, 2011
1182011
Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies
SA Robb, CA Sewry, JJ Dowling, L Feng, T Cullup, S Lillis, S Abbs, ...
Neuromuscular Disorders 21 (6), 379-386, 2011
1182011
ABCA12 is the major harlequin ichthyosis gene
AC Thomas, T Cullup, EE Norgett, T Hill, S Barton, BA Dale, E Sprecher, ...
Journal of investigative dermatology 126 (11), 2408-2413, 2006
1092006
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy
S Byrne, L Jansen, JM U-King-Im, A Siddiqui, HGW Lidov, I Bodi, L Smith, ...
Brain 139 (3), 765-781, 2016
1082016
Mutations in outer dynein arm heavy chain DNAH9 cause motile cilia defects and situs inversus
MR Fassad, A Shoemark, M Legendre, RA Hirst, F Koll, P Le Borgne, ...
The American Journal of Human Genetics 103 (6), 984-994, 2018
1042018
Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement
T Cullup, PJ Lamont, S Cirak, MS Damian, W Wallefeld, R Gooding, ...
Neuromuscular Disorders 22 (12), 1096-1104, 2012
882012
The oculome panel test: next-generation sequencing to diagnose a diverse range of genetic developmental eye disorders
A Patel, JD Hayward, V Tailor, R Nyanhete, H Ahlfors, C Gabriel, ...
Ophthalmology 126 (6), 888-907, 2019
822019
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis
E Omoyinmi, A Standing, A Keylock, F Price-Kuehne, S Melo Gomes, ...
PloS one 12 (7), e0181874, 2017
782017
Relative frequency of congenital muscular dystrophy subtypes: analysis of the UK diagnostic service 2001–2008
EM Clement, L Feng, R Mein, CA Sewry, SA Robb, AY Manzur, E Mercuri, ...
Neuromuscular Disorders 22 (6), 522-527, 2012
772012
High prevalence of CCDC103 p. His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations
A Shoemark, E Moya, RA Hirst, MP Patel, EA Robson, J Hayward, J Scully, ...
Thorax 73 (2), 157-166, 2018
702018
Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia
P Munot, D Lashley, H Jungbluth, L Feng, M Pitt, SA Robb, J Palace, ...
Neuromuscular Disorders 20 (12), 796-800, 2010
702010
Somatic mitochondrial DNA mutations in primary and metastatic ovarian cancer
PO Van Trappen, T Cullup, R Troke, D Swann, JH Shepherd, IJ Jacobs, ...
Gynecologic oncology 104 (1), 129-133, 2007
622007
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מאמרים 1–20