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

Year Number of Results
1993 3
1994 1
1995 1
1996 1
1997 5
1998 1
1999 1
2000 3
2001 3
2002 2
2003 1
2004 2
2005 4
2006 4
2007 7
2008 3
2009 4
2010 7
2011 8
2012 6
2013 6
2014 8
2015 9
2016 6
2017 6
2018 5
2019 8
2020 6
2021 5
2022 7
2023 5
2024 0

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122 results

Results by year

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Page 1
Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.
Maillard PY, Baer S, Schaefer É, Desnous B, Villeneuve N, Lépine A, Fabre A, Lacoste C, El Chehadeh S, Piton A, Porter LF, Perriard C, Wardé MA, Spitz MA, Laugel V, Lesca G, Putoux A, Ville D, Mignot C, Héron D, Nabbout R, Barcia G, Rio M, Roubertie A, Meyer P, Paquis-Flucklinger V, Patat O, Lefranc J, Gerard M; Epigen Consortium; de Bellescize J, Villard L, De Saint Martin A, Milh M. Maillard PY, et al. Among authors: paquis flucklinger v. Epilepsia. 2022 Oct;63(10):2519-2533. doi: 10.1111/epi.17336. Epub 2022 Aug 13. Epilepsia. 2022. PMID: 35718920 Free PMC article. Review.
CHCHD10-Related Disorders.
Ait-El-Mkadem Saadi S, Chaussenot A, Bannwarth S, Rouzier C, Paquis-Flucklinger V. Ait-El-Mkadem Saadi S, et al. Among authors: paquis flucklinger v. 2015 Jul 1 [updated 2021 May 27]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2015 Jul 1 [updated 2021 May 27]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 26131548 Free Books & Documents. Review.
Accumulation of amyloid precursor protein C-terminal fragments triggers mitochondrial structure, function, and mitophagy defects in Alzheimer's disease models and human brains.
Vaillant-Beuchot L, Mary A, Pardossi-Piquard R, Bourgeois A, Lauritzen I, Eysert F, Kinoshita PF, Cazareth J, Badot C, Fragaki K, Bussiere R, Martin C, Mary R, Bauer C, Pagnotta S, Paquis-Flucklinger V, Buée-Scherrer V, Buée L, Lacas-Gervais S, Checler F, Chami M. Vaillant-Beuchot L, et al. Among authors: paquis flucklinger v. Acta Neuropathol. 2021 Jan;141(1):39-65. doi: 10.1007/s00401-020-02234-7. Epub 2020 Oct 20. Acta Neuropathol. 2021. PMID: 33079262 Free PMC article.
Clinical aspects of mitochondrial diabetes.
Vialettes B, Paquis-Flucklinger V, Bendahan D. Vialettes B, et al. Among authors: paquis flucklinger v. Diabetes Metab. 1997 Mar;23 Suppl 2:52-6. Diabetes Metab. 1997. PMID: 9105784 Review.
Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia.
Kesim Y, Ceroni F, Damián A, Blanco-Kelly F, Ayuso C, Williamson K, Paquis-Flucklinger V, Bax DA, Plaisancié J, Rieubland C, Chamlal M, Cortón M, Chassaing N, Calvas P, Ragge NK. Kesim Y, et al. Among authors: paquis flucklinger v. Eur J Hum Genet. 2023 Oct;31(10):1175-1180. doi: 10.1038/s41431-023-01342-8. Epub 2023 Mar 31. Eur J Hum Genet. 2023. PMID: 36997679 Free PMC article.
NDUFS6 related Leigh syndrome: a case report and review of the literature.
Rouzier C, Chaussenot A, Fragaki K, Serre V, Ait-El-Mkadem S, Richelme C, Paquis-Flucklinger V, Bannwarth S. Rouzier C, et al. Among authors: paquis flucklinger v. J Hum Genet. 2019 Jul;64(7):637-645. doi: 10.1038/s10038-019-0594-4. Epub 2019 Apr 4. J Hum Genet. 2019. PMID: 30948790 Review.
122 results