Articoli con mandati relativi all'accesso pubblico - Paul GissenUlteriori informazioni
Non disponibili pubblicamente: 2
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Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study
A Schulz, N Specchio, E de Los Reyes, P Gissen, M Nickel, M Trivisano, ...
The Lancet Neurology 23 (1), 60-70, 2024
Mandati: US National Institutes of Health
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Arthrogryposis, renal dysfunction, and cholestasis syndrome caused by VIPAR mutation
O Ackermann, E Gonzales, M Keller, C Guettier, P Gissen, E Jacquemin
Journal of Pediatric Gastroenterology and Nutrition 58 (3), e29-e32, 2014
Mandati: Wellcome Trust
Disponibili pubblicamente: 140
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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
Mandati: US National Institutes of Health, Wellcome Trust, Patient-Centered Outcomes …
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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
Mandati: US National Institutes of Health, American Heart Association, UK Medical …
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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
Mandati: British Heart Foundation, UK Medical Research Council, National Institute …
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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
Mandati: National Institute for Health Research, UK, European Commission, Federal …
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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
Mandati: UK Biotechnology and Biological Sciences Research Council, UK Engineering …
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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
Mandati: US Department of Veterans Affairs, Alzheimers's UK, UK Medical Research …
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Structural and functional hepatocyte polarity and liver disease
P Gissen, IM Arias
Journal of hepatology 63 (4), 1023-1037, 2015
Mandati: US National Institutes of Health, Wellcome Trust
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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
Mandati: US National Institutes of Health, UK Medical Research Council, National …
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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
Mandati: US National Institutes of Health
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Alpha synuclein aggregation drives ferroptosis: an interplay of iron, calcium and lipid peroxidation
PR Angelova, ML Choi, AV Berezhnov, MH Horrocks, CD Hughes, S De, ...
Cell death & differentiation 27 (10), 2781-2796, 2020
Mandati: UK Medical Research Council, National Institute for Health Research, UK …
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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
Mandati: US National Institutes of Health, UK Medical Research Council, National …
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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
Mandati: Cancer Research UK
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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
Mandati: US National Institutes of Health
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Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome
PB Mills, SSM Camuzeaux, EJ Footitt, KA Mills, P Gissen, L Fisher, ...
Brain 137 (5), 1350-1360, 2014
Mandati: National Institute for Health Research, UK, Wellcome Trust
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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
Mandati: US National Institutes of Health
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Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update
MC Patterson, P Clayton, P Gissen, M Anheim, P Bauer, O Bonnot, ...
Neurology: Clinical Practice 7 (6), 499-511, 2017
Mandati: US National Institutes of Health
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Reproducibility of molecular phenotypes after long-term differentiation to human iPSC-derived neurons: a multi-site omics study
V Volpato, J Smith, C Sandor, JS Ried, A Baud, A Handel, SE Newey, ...
Stem cell reports 11 (4), 897-911, 2018
Mandati: UK Medical Research Council, National Institute for Health Research, UK …
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Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures
T Stödberg, A McTague, AJ Ruiz, H Hirata, J Zhen, P Long, I Farabella, ...
Nature communications 6 (1), 8038, 2015
Mandati: US National Institutes of Health, Swedish Research Council, UK Biotechnology …
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