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

Year Number of Results
2002 1
2005 1
2007 2
2008 5
2009 7
2010 4
2011 4
2012 5
2013 2
2014 4
2015 7
2016 3
2017 5
2018 3
2019 5
2020 5
2021 10
2022 8
2023 1
2024 2

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74 results

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Page 1
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C, Pion E, Chaussenot A, Bris C, Ait-El-Mkadem Saadi S, Desquiret-Dumas V, Gueguen N, Fragaki K, Amati-Bonneau P, Barcia G, Gaignard P, Steffann J, Pennisi A, Bonnefont JP, Lebigot E, Bannwarth S, Francou B, Rucheton B, Sternberg D, Martin-Negrier ML, Trimouille A, Hardy G, Allouche S, Acquaviva-Bourdain C, Pagan C, Lebre AS, Reynier P, Cossee M, Attarian S, Paquis-Flucklinger V; MitoDiag's Network Collaborators; Procaccio V. Rouzier C, et al. Among authors: gueguen n. Ann Clin Transl Neurol. 2024 May 4. doi: 10.1002/acn3.52062. Online ahead of print. Ann Clin Transl Neurol. 2024. PMID: 38703036
Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel de novo heterozygous DNM1L variant.
Lhuissier C, Wagner BE, Vincent A, Garraux G, Hougrand O, Van Coster R, Benoit V, Karadurmus D, Lenaers G, Gueguen N, Chevrollier A, Maystadt I. Lhuissier C, et al. Among authors: gueguen n. Front Neurol. 2022 Sep 23;13:937885. doi: 10.3389/fneur.2022.937885. eCollection 2022. Front Neurol. 2022. PMID: 36212643 Free PMC article.
Next-Generation Sequencing Identifies Novel PMPCA Variants in Patients with Late-Onset Dominant Optic Atrophy.
Charif M, Chevrollier A, Gueguen N, Kane S, Bris C, Goudenège D, Desquiret-Dumas V, Meunier I, Mochel F, Jeanjean L, Varenne F, Procaccio V, Reynier P, Bonneau D, Amati-Bonneau P, Lenaers G. Charif M, et al. Among authors: gueguen n. Genes (Basel). 2022 Jul 5;13(7):1202. doi: 10.3390/genes13071202. Genes (Basel). 2022. PMID: 35885985 Free PMC article.
Glutamate-Induced Deregulation of Krebs Cycle in Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-Like Episodes (MELAS) Syndrome Is Alleviated by Ketone Body Exposure.
Belal S, Goudenège D, Bocca C, Dumont F, Chao De La Barca JM, Desquiret-Dumas V, Gueguen N, Geffroy G, Benyahia R, Kane S, Khiati S, Bris C, Aranyi T, Stockholm D, Inisan A, Renaud A, Barth M, Simard G, Reynier P, Letournel F, Lenaers G, Bonneau D, Chevrollier A, Procaccio V. Belal S, et al. Among authors: gueguen n. Biomedicines. 2022 Jul 11;10(7):1665. doi: 10.3390/biomedicines10071665. Biomedicines. 2022. PMID: 35884972 Free PMC article.
Expanding the phenotype of DNAJC30-associated Leigh syndrome.
Zawadzka M, Krygier M, Pawłowicz M, Wilke MVMB, Rutkowska K, Gueguen N, Desquiret-Dumas V, Klee EW, Schimmenti LA, Sławek J, Procaccio V, Płoski R, Mazurkiewicz-Bełdzińska M. Zawadzka M, et al. Among authors: gueguen n. Clin Genet. 2022 Nov;102(5):438-443. doi: 10.1111/cge.14196. Epub 2022 Jul 29. Clin Genet. 2022. PMID: 35861300
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.
Ganapathi M, Friocourt G, Gueguen N, Friederich MW, Le Gac G, Okur V, Loaëc N, Ludwig T, Ka C, Tanji K, Marcorelles P, Theodorou E, Lignelli-Dipple A, Voisset C, Walker MA, Briere LC, Bourhis A, Blondel M, LeDuc C, Hagen J, Cooper C, Muraresku C, Ferec C, Garenne A, Lelez-Soquet S, Rogers CA, Shen Y, Strode DK, Bizargity P, Iglesias A, Goldstein A, High FA, Network UD, Sweetser DA, Ganetzky R, Van Hove JLK, Procaccio V, Le Marechal C, Chung WK. Ganapathi M, et al. Among authors: gueguen n. J Inherit Metab Dis. 2022 Sep;45(5):996-1012. doi: 10.1002/jimd.12526. Epub 2022 Jul 11. J Inherit Metab Dis. 2022. PMID: 35621276 Free PMC article.
74 results