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Year Number of Results
1973 1
1982 1
1984 1
1989 1
1991 1
1993 1
1997 1
1999 1
2005 1
2007 3
2008 1
2009 3
2010 2
2011 3
2012 1
2014 1
2015 5
2016 8
2017 5
2018 4
2019 4
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2021 7
2022 16
2023 8
2024 5
2025 0

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83 results

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Page 1
Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report.
Kishnani PS, Kronn D, Brassier A, Broomfield A, Davison J, Hahn SH, Kumada S, Labarthe F, Ohki H, Pichard S, Prakalapakorn SG, Haack KA, Kittner B, Meng X, Sparks S, Wilson C, Zaher A, Chien YH; Mini-COMET Investigators. Kishnani PS, et al. Among authors: pichard s. Genet Med. 2023 Feb;25(2):100328. doi: 10.1016/j.gim.2022.10.010. Epub 2022 Dec 21. Genet Med. 2023. PMID: 36542086 Free article. Clinical Trial.
Molecular mechanism of IKK catalytic dimer docking to NF-κB substrates.
Li C, Moro S, Shostak K, O'Reilly FJ, Donzeau M, Graziadei A, McEwen AG, Desplancq D, Poussin-Courmontagne P, Bachelart T, Fiskin M, Berrodier N, Pichard S, Brillet K, Orfanoudakis G, Poterszman A, Torbeev V, Rappsilber J, Davey NE, Chariot A, Zanier K. Li C, et al. Among authors: pichard s. Nat Commun. 2024 Sep 3;15(1):7692. doi: 10.1038/s41467-024-52076-0. Nat Commun. 2024. PMID: 39227404 Free PMC article.
Acid sphingomyelinase deficiency in France: a retrospective survival study.
Mauhin W, Guffon N, Vanier MT, Froissart R, Cano A, Douillard C, Lavigne C, Héron B, Belmatoug N, Uzunhan Y, Lacombe D, Levade T, Duvivier A, Pulikottil-Jacob R, Laredo F, Pichard S, Lidove O; ASSUR Study Group. Mauhin W, et al. Among authors: pichard s. Orphanet J Rare Dis. 2024 Aug 5;19(1):289. doi: 10.1186/s13023-024-03234-6. Orphanet J Rare Dis. 2024. PMID: 39103853 Free PMC article.
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.
Freihuber C, Dahmani-Rabehi B, Brassier A, Broué P, Cances C, Chabrol B, Eyer D, Labarthe F, Latour P, Levade T, Pichard S, Sevin C, Vanier MT, Héron B. Freihuber C, et al. Among authors: pichard s. Orphanet J Rare Dis. 2023 Jul 21;18(1):204. doi: 10.1186/s13023-023-02804-4. Orphanet J Rare Dis. 2023. PMID: 37480097 Free PMC article.
Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.
Russell BE, Whaley KG, Bove KE, Labilloy A, Lombardo RC, Hopkin RJ, Leslie ND, Prada C, Assouline Z, Barcia G, Bouchereau J, Chomton M, Debray D, Dorboz I, Durand P, Gaignard P, Habes D, Jardel C, Labarthe F, Lévy J, Lombès A, Mehler-Jacob C, Melki J, Menvielle L, Munnich A, Mussini C, Pichard S, Rio M, Rötig A, Sissaoui S, Slama A, Miethke AG, Schiff M. Russell BE, et al. Among authors: pichard s. Hepatology. 2019 Sep;70(3):1066-1070. doi: 10.1002/hep.30627. Epub 2019 May 16. Hepatology. 2019. PMID: 30912852 Free PMC article. Review. No abstract available.
A lipid transfer protein ensures nematode cuticular impermeability.
Njume FN, Razzauti A, Soler M, Perschin V, Fazeli G, Bourez A, Delporte C, Ghogomu SM, Poelvoorde P, Pichard S, Birck C, Poterszman A, Souopgui J, Van Antwerpen P, Stigloher C, Vanhamme L, Laurent P. Njume FN, et al. Among authors: pichard s. iScience. 2022 Oct 14;25(11):105357. doi: 10.1016/j.isci.2022.105357. eCollection 2022 Nov 18. iScience. 2022. PMID: 36339267 Free PMC article.
Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings.
Brassier A, Pichard S, Schiff M, Bouchereau J, Bérat CM, Caillaud C, Pion A, Khraiche D, Fauroux B, Oualha M, Barnerias C, Desguerre I, Hully M, Maquet M, Deladrière E, de Lonlay P, Gitiaux C. Brassier A, et al. Among authors: pichard s. Mol Genet Metab. 2023 Aug;139(4):107650. doi: 10.1016/j.ymgme.2023.107650. Epub 2023 Jul 11. Mol Genet Metab. 2023. PMID: 37454519
Neurocognitive profiles in MSUD school-age patients.
Bouchereau J, Leduc-Leballeur J, Pichard S, Imbard A, Benoist JF, Abi Warde MT, Arnoux JB, Barbier V, Brassier A, Broué P, Cano A, Chabrol B, Damon G, Gay C, Guillain I, Habarou F, Lamireau D, Ottolenghi C, Paermentier L, Sabourdy F, Touati G, Ogier de Baulny H, de Lonlay P, Schiff M. Bouchereau J, et al. Among authors: pichard s. J Inherit Metab Dis. 2017 May;40(3):377-383. doi: 10.1007/s10545-017-0033-7. Epub 2017 Mar 21. J Inherit Metab Dis. 2017. PMID: 28324240
83 results