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

Year Number of Results
1993 1
2007 1
2008 1
2009 1
2010 4
2011 3
2012 4
2013 4
2014 9
2015 8
2016 5
2017 6
2018 3
2019 6
2020 4
2021 5
2022 2
2023 1
2024 0

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58 results

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Page 1
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: chaussenot a. 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.
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: chaussenot a. 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.
[Chorea-acanthocytosis without acanthocytes].
Bayreuther C, Borg M, Ferrero-Vacher C, Chaussenot A, Lebrun C. Bayreuther C, et al. Among authors: chaussenot a. Rev Neurol (Paris). 2010 Jan;166(1):100-3. doi: 10.1016/j.neurol.2009.03.005. Epub 2009 Jun 3. Rev Neurol (Paris). 2010. PMID: 19497603 French.
A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course.
Biancalana V, Rendu J, Chaussenot A, Mecili H, Bieth E, Fradin M, Mercier S, Michaud M, Nougues MC, Pasquier L, Sacconi S, Romero NB, Marcorelles P, Authier FJ, Gelot Bernabe A, Uro-Coste E, Cances C, Isidor B, Magot A, Minot-Myhie MC, Péréon Y, Perrier-Boeswillwald J, Bretaudeau G, Dondaine N, Bouzenard A, Pizzimenti M, Eymard B, Ferreiro A, Laporte J, Fauré J, Böhm J. Biancalana V, et al. Among authors: chaussenot a. Acta Neuropathol Commun. 2021 Sep 17;9(1):155. doi: 10.1186/s40478-021-01254-y. Acta Neuropathol Commun. 2021. PMID: 34535181 Free PMC article.
Nephrotic syndrome and mitochondrial disorders: answers.
Bernardor J, Faudeux C, Chaussenot A, Antignac C, Goldenberg A, Gubler MC, Wagner N, Bérard E. Bernardor J, et al. Among authors: chaussenot a. Pediatr Nephrol. 2019 Aug;34(8):1375-1377. doi: 10.1007/s00467-019-04217-7. Epub 2019 Mar 12. Pediatr Nephrol. 2019. PMID: 30863911 No abstract available.
Nephrotic syndrome and mitochondrial disorders: Questions.
Bernardor J, Faudeux C, Chaussenot A, Antignac C, Goldenberg A, Gubler MC, Wagner N, Bérard E. Bernardor J, et al. Among authors: chaussenot a. Pediatr Nephrol. 2019 Aug;34(8):1373-1374. doi: 10.1007/s00467-019-04216-8. Epub 2019 Mar 12. Pediatr Nephrol. 2019. PMID: 30863910 No abstract available.
Cholic acid as a treatment for cerebrotendinous xanthomatosis in adults.
Mandia D, Chaussenot A, Besson G, Lamari F, Castelnovo G, Curot J, Duval F, Giral P, Lecerf JM, Roland D, Pierdet H, Douillard C, Nadjar Y. Mandia D, et al. Among authors: chaussenot a. J Neurol. 2019 Aug;266(8):2043-2050. doi: 10.1007/s00415-019-09377-y. Epub 2019 May 21. J Neurol. 2019. PMID: 31115677
58 results