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Paul Gissen
Paul Gissen
UCL Great Ormond Street Institute of Child Health
Dirección de correo verificada de ucl.ac.uk - Página principal
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PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
NV Morgan, SK Westaway, JEV Morton, A Gregory, P Gissen, S Sonek, ...
Nature genetics 38 (7), 752-754, 2006
5752006
Hematopoietic stem-cell gene therapy for cerebral adrenoleukodystrophy
F Eichler, C Duncan, PL Musolino, PJ Orchard, S De Oliveira, AJ Thrasher, ...
New England Journal of Medicine 377 (17), 1630-1638, 2017
5172017
α-synuclein oligomers interact with ATP synthase and open the permeability transition pore in Parkinson’s disease
MHR Ludtmann, PR Angelova, MH Horrocks, ML Choi, M Rodrigues, ...
Nature communications 9 (1), 2293, 2018
4202018
Study of intraventricular cerliponase alfa for CLN2 disease
A Schulz, T Ajayi, N Specchio, E de Los Reyes, P Gissen, D Ballon, ...
New England Journal of Medicine 378 (20), 1898-1907, 2018
4142018
Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease
KJ Carss, G Arno, M Erwood, J Stephens, A Sanchis-Juan, S Hull, K Megy, ...
The American Journal of Human Genetics 100 (1), 75-90, 2017
4132017
The monoamine neurotransmitter disorders: an expanding range of neurological syndromes
MA Kurian, P Gissen, M Smith, SJR Heales, PT Clayton
The Lancet Neurology 10 (8), 721-733, 2011
3712011
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome
P Gissen, CA Johnson, NV Morgan, JM Stapelbroek, T Forshew, ...
Nature genetics 36 (4), 400-404, 2004
3642004
Alpha-synuclein oligomers interact with metal ions to induce oxidative stress and neuronal death in Parkinson's disease
E Deas, N Cremades, PR Angelova, MHR Ludtmann, Z Yao, S Chen, ...
Antioxidants & redox signaling 24 (7), 376-391, 2016
3422016
α-Synuclein binds to the ER–mitochondria tethering protein VAPB to disrupt Ca2+ homeostasis and mitochondrial ATP production
S Paillusson, P Gomez-Suaga, R Stoica, D Little, P Gissen, MJ Devine, ...
Acta neuropathologica 134, 129-149, 2017
3312017
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat
UM Smith, M Consugar, LJ Tee, BM McKee, EN Maina, S Whelan, ...
Nature genetics 38 (2), 191-196, 2006
3272006
Structural and functional hepatocyte polarity and liver disease
P Gissen, IM Arias
Journal of hepatology 63 (4), 1023-1037, 2015
3232015
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia
K Tuschl, E Meyer, LE Valdivia, N Zhao, C Dadswell, A Abdul-Sada, ...
Nature communications 7 (1), 11601, 2016
2792016
Consensus clinical management guidelines for Niemann-Pick disease type C
T Geberhiwot, A Moro, A Dardis, U Ramaswami, S Sirrs, MP Marfa, ...
Orphanet journal of rare diseases 13, 1-19, 2018
2662018
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
IA Aligianis, CA Johnson, P Gissen, D Chen, D Hampshire, K Hoffmann, ...
Nature genetics 37 (3), 221-224, 2005
2482005
Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia
MA Kurian, J Zhen, SY Cheng, Y Li, SR Mordekar, P Jardine, NV Morgan, ...
The Journal of clinical investigation 119 (6), 1595-1603, 2009
2422009
Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN)
MA Kurian, NV Morgan, L MacPherson, K Foster, D Peake, R Gupta, ...
Neurology 70 (18), 1623-1629, 2008
2382008
Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study
MA Kurian, Y Li, J Zhen, E Meyer, N Hai, HJ Christen, GF Hoffmann, ...
The Lancet Neurology 10 (1), 54-62, 2011
2152011
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
E Meyer, KJ Carss, J Rankin, JME Nichols, D Grozeva, AP Joseph, ...
Nature genetics 49 (2), 223-237, 2017
2142017
Mutations in SLC29A3, Encoding an Equilibrative Nucleoside Transporter ENT3, Cause a Familial Histiocytosis Syndrome (Faisalabad Histiocytosis) and Familial …
NV Morgan, MR Morris, H Cangul, D Gleeson, A Straatman-Iwanowska, ...
PLoS genetics 6 (2), e1000833, 2010
2072010
Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization
AR Cullinane, A Straatman-Iwanowska, A Zaucker, Y Wakabayashi, ...
Nature genetics 42 (4), 303-312, 2010
1952010
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