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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1995 4
1996 1
1997 2
1998 4
1999 5
2000 5
2001 2
2002 6
2003 3
2004 9
2005 6
2006 5
2007 2
2008 1
2009 4
2010 2
2011 4
2012 2
2013 6
2014 3
2015 4
2016 6
2017 7
2018 8
2019 3
2020 6
2021 9
2022 8
2023 4

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114 results

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Page 1
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, Alber M, Sterbova K, Lassuthová P, Vlckova M, Lemke JR, Platzer K, Krey I, Heine C, Wieczorek D, Kroell-Seger J, Lund C, Klein KM, Au PYB, Rho JM, Ho AW, Masnada S, Veggiotti P, Giordano L, Accorsi P, Hoei-Hansen CE, Striano P, Zara F, Verhelst H, Verhoeven JS, Braakman HMH, van der Zwaag B, Harder AVE, Brilstra E, Pendziwiat M, Lebon S, Vaccarezza M, Le NM, Christensen J, Grønborg S, Scherer SW, Howe J, Fazeli W, Howell KB, Leventer R, Stutterd C, Walsh S, Gerard M, Gerard B, Matricardi S, Bonardi CM, Sartori S, Berger A, Hoffman-Zacharska D, Mastrangelo M, Darra F, Vøllo A, Motazacker MM, Lakeman P, Nizon M, Betzler C, Altuzarra C, Caume R, Roubertie A, Gélisse P, Marini C, Guerrini R, Bilan F, Tibussek D, Koch-Hogrebe M, Perry MS, Ichikawa S, Dadali E, Sharkov A, Mishina I, Abramov M, Kanivets I, Korostelev S, Kutsev S, Wain KE, Eisenhauer N, Wagner M, Savatt JM, Müller-Schlüter K, Bassan H, Borovikov A, Nassogne MC, Destrée A, Schoonjans AS, Meuwissen M, Buzatu… See abstract for full author list ➔ Johannesen KM, et al. Among authors: nassogne mc. Brain. 2022 Sep 14;145(9):2991-3009. doi: 10.1093/brain/awab321. Brain. 2022. PMID: 34431999 Free PMC article.
Disorders of purine biosynthesis metabolism.
Dewulf JP, Marie S, Nassogne MC. Dewulf JP, et al. Among authors: nassogne mc. Mol Genet Metab. 2022 Jul;136(3):190-198. doi: 10.1016/j.ymgme.2021.12.016. Epub 2021 Dec 30. Mol Genet Metab. 2022. PMID: 34998670 Review.
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, Caro-Llopis A, Cooper NS, Debray FG, Faivre L, Gardeitchik T, Haukanes BI, Houge G, Kivuva E, Martinez F, Mehta SG, Nassogne MC, Powell-Hamilton N, Pfundt R, Rosello M, Prescott T, Vasudevan P, van Loon B, Verellen-Dumoulin C, Verloes A, Lippe CV, Wakeling E, Wilkie AOM, Wilson L, Yuen A, Study D, Low KJ, Newbury-Ecob RA. Moortgat S, et al. Among authors: nassogne mc. Eur J Hum Genet. 2018 Jan;26(1):64-74. doi: 10.1038/s41431-017-0038-6. Epub 2017 Nov 27. Eur J Hum Genet. 2018. PMID: 29180823 Free PMC article.
Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.
Yverneau M, Leroux S, Imbard A, Gleich F, Arion A, Moreau C, Nassogne MC, Szymanowski M, Tardieu M, Touati G, Bueno M, Chapman KA, Chien YH, Huemer M, Ješina P, Janssen MCH, Kölker S, Kožich V, Lavigne C, Lund AM, Mochel F, Morris A, Pons MR, Porras-Hurtado GL, Benoist JF, Damaj L, Schiff M; E-HOD Consortium. Yverneau M, et al. Among authors: nassogne mc. J Inherit Metab Dis. 2022 Jul;45(4):848-861. doi: 10.1002/jimd.12504. Epub 2022 May 9. J Inherit Metab Dis. 2022. PMID: 35460084 Free article.
Metabolic diagnostic work-up in chronic conditions.
Nassogne MC, Hertz-Pannier L. Nassogne MC, et al. Handb Clin Neurol. 2013;113:1563-80. doi: 10.1016/B978-0-444-59565-2.00026-5. Handb Clin Neurol. 2013. PMID: 23622379 Review.
Urea cycle defects: management and outcome.
Nassogne MC, Héron B, Touati G, Rabier D, Saudubray JM. Nassogne MC, et al. J Inherit Metab Dis. 2005;28(3):407-14. doi: 10.1007/s10545-005-0303-7. J Inherit Metab Dis. 2005. PMID: 15868473 Review.
Liver Transplantation for Propionic Acidemia.
Silva HM, Nassogne MC, Smets F, Stéphenne X, Scheers I, Veyckemans F, Pirotte T, Bourdeaux C, Magnée C, Reding R, Sokal E. Silva HM, et al. Among authors: nassogne mc. J Pediatr Gastroenterol Nutr. 2017 Mar;64(3):e73-e76. doi: 10.1097/MPG.0000000000000626. J Pediatr Gastroenterol Nutr. 2017. PMID: 26881497 No abstract available.
Genetic hypoglycaemia in infancy and childhood: pathophysiology and diagnosis.
Saudubray JM, de Lonlay P, Touati G, Martin D, Nassogne MC, Castelnau P, Sevin C, Laborde C, Baussan C, Brivet M, Vassault A, Rabier D, Bonnefont JP, Kamoun P. Saudubray JM, et al. Among authors: nassogne mc. J Inherit Metab Dis. 2000 May;23(3):197-214. doi: 10.1023/a:1005675827612. J Inherit Metab Dis. 2000. PMID: 10863937 Review. No abstract available.
114 results