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Year Number of Results
2002 1
2004 2
2005 4
2006 4
2007 3
2009 2
2010 9
2011 6
2012 5
2013 5
2014 7
2015 6
2016 14
2017 20
2018 20
2019 17
2020 14
2021 21
2022 12
2023 17
2024 8

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Page 1
Did you mean paul gossen (3 results)?
Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.
Bremova-Ertl T, Ramaswami U, Brands M, Foltan T, Gautschi M, Gissen P, Gowing F, Hahn A, Jones S, Kay R, Kolnikova M, Arash-Kaps L, Marquardt T, Mengel E, Park JH, Reichmannová S, Schneider SA, Sivananthan S, Walterfang M, Wibawa P, Strupp M, Martakis K. Bremova-Ertl T, et al. Among authors: gissen p. N Engl J Med. 2024 Feb 1;390(5):421-431. doi: 10.1056/NEJMoa2310151. N Engl J Med. 2024. PMID: 38294974 Clinical Trial.
mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria.
Gurung S, Timmermand OV, Perocheau D, Gil-Martinez AL, Minnion M, Touramanidou L, Fang S, Messina M, Khalil Y, Spiewak J, Barber AR, Edwards RS, Pinto PL, Finn PF, Cavedon A, Siddiqui S, Rice L, Martini PGV, Ridout D, Heywood W, Hargreaves I, Heales S, Mills PB, Waddington SN, Gissen P, Eaton S, Ryten M, Feelisch M, Frassetto A, Witney TH, Baruteau J. Gurung S, et al. Among authors: gissen p. Sci Transl Med. 2024 Jan 10;16(729):eadh1334. doi: 10.1126/scitranslmed.adh1334. Epub 2024 Jan 10. Sci Transl Med. 2024. PMID: 38198573 Free PMC article.
Liver-directed gene therapy for inherited metabolic diseases.
Baruteau J, Brunetti-Pierri N, Gissen P. Baruteau J, et al. Among authors: gissen p. J Inherit Metab Dis. 2024 Jan;47(1):9-21. doi: 10.1002/jimd.12709. Epub 2024 Jan 3. J Inherit Metab Dis. 2024. PMID: 38171926 Review.
Safety and efficacy of cerliponase alfa in children with neuronal ceroid lipofuscinosis type 2 (CLN2 disease): an open-label extension study.
Schulz A, Specchio N, de Los Reyes E, Gissen P, Nickel M, Trivisano M, Aylward SC, Chakrapani A, Schwering C, Wibbeler E, Westermann LM, Ballon DJ, Dyke JP, Cherukuri A, Bondade S, Slasor P, Cohen Pfeffer J. Schulz A, et al. Among authors: gissen p. Lancet Neurol. 2024 Jan;23(1):60-70. doi: 10.1016/S1474-4422(23)00384-8. Lancet Neurol. 2024. PMID: 38101904
Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study.
Seker Yilmaz B, Baruteau J, Chakrapani A, Champion M, Chronopoulou E, Claridge LC, Daly A, Davies C, Davison J, Dhawan A, Grunewald S, Gupte GL, Heaton N, Lemonde H, McKiernan P, Mills P, Morris AAM, Mundy H, Pierre G, Rajwal S, Sivananthan S, Sreekantam S, Stepien KM, Vara R, Yeo M, Gissen P. Seker Yilmaz B, et al. Among authors: gissen p. Mol Genet Metab Rep. 2023 Nov 5;37:101020. doi: 10.1016/j.ymgmr.2023.101020. eCollection 2023 Dec. Mol Genet Metab Rep. 2023. PMID: 38053940 Free PMC article.
First in man study of intravitreal tripeptidyl peptidase 1 for CLN2 retinopathy.
Wawrzynski J, Martinez AR, Thompson DA, Ram D, Bowman R, Whiteley R, Gan C, Harding L, Mortensen A, Mills P, Gissen P, Henderson RH. Wawrzynski J, et al. Among authors: gissen p. Eye (Lond). 2024 Apr;38(6):1176-1182. doi: 10.1038/s41433-023-02859-4. Epub 2023 Dec 4. Eye (Lond). 2024. PMID: 38049626 Free PMC article.
The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.
Gurung S, Karamched S, Perocheau D, Seunarine KK, Baldwin T, Alrashidi H, Touramanidou L, Duff C, Elkhateeb N, Stepien KM, Sharma R, Morris A, Hartley T, Crowther L, Grunewald S, Cleary M, Mundy H, Chakrapani A, Batzios S, Davison J, Footitt E, Tuschl K, Lachmann R, Murphy E, Santra S, Uudelepp ML, Yeo M, Finn PF, Cavedon A, Siddiqui S, Rice L, Martini PGV, Frassetto A, Heales S, Mills PB, Gissen P, Clayden JD, Clark CA, Eaton S, Kalber TL, Baruteau J. Gurung S, et al. Among authors: gissen p. J Inherit Metab Dis. 2023 Dec 4. doi: 10.1002/jimd.12691. Online ahead of print. J Inherit Metab Dis. 2023. PMID: 38044746
Cardiac glycosides restore autophagy flux in an iPSC-derived neuronal model of WDR45 deficiency.
Papandreou A, Singh N, Gianfrancesco L, Budinger D, Barwick K, Agrotis A, Luft C, Shao Y, Lenaerts AS, Gregory A, Jeong SY, Hogarth P, Hayflick S, Barral S, Kriston-Vizi J, Gissen P, Kurian MA, Ketteler R. Papandreou A, et al. Among authors: gissen p. bioRxiv [Preprint]. 2023 Sep 13:2023.09.13.556416. doi: 10.1101/2023.09.13.556416. bioRxiv. 2023. PMID: 37745522 Free PMC article. Preprint.
176 results