Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era.

Autor: Bui, Mai Thao¹ (AUTHOR), Fernández-Eulate, Gorka^2,3 (AUTHOR), Evangelista, Teresinha^1,2,4 (AUTHOR), Lacène, Emmanuelle¹ (AUTHOR), Brochier, Guy¹ (AUTHOR), Labasse, Clémence¹ (AUTHOR), Madelaine, Angéline¹ (AUTHOR), Chanut, Anaïs¹ (AUTHOR), Beuvin, Maud¹ (AUTHOR), Borsato-Levy, Favienne¹ (AUTHOR), Biancalana, Valérie^5,6 (AUTHOR), Barcia, Giulia⁷ (AUTHOR), De Lonlay, Pascale³ (AUTHOR), Laporte, Jocelyn⁵ (AUTHOR), Böhm, Johann⁵ (AUTHOR), Romero, Norma Beatriz^1,2 (AUTHOR) nb.romero@institut-myologie.org

Publikováno v: Acta Neuropathologica Communications. 12/20/2024, Vol. 12 Issue 1, p1-12. 12p.

Plasma GM2 ganglioside potential biomarker for diagnosis, prognosis and disease monitoring of GM2-Gangliosidosis

Autor: Blondel, Amélie, Kraoua, Ichraf, Marcelino, Chloé, Khrouf, Walid, Schlemmer, Dimitri, Ganne, Benjamin, Caillaud, Catherine, Fernández-Eulate, Gorka, Turki, Ilhem Ben Youssef, Dauriat, Benjamin, Bonnefont-Rousselot, Dominique, Nadjar, Yann, Lamari, Foudil

Publikováno v: In Molecular Genetics and Metabolism February 2023 138(2)

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Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts.

Autor: Fernández-Eulate, Gorka^1,2 (AUTHOR), Martin, Gilles C.³ (AUTHOR), Dureau, Pascal³ (AUTHOR), Speeg-Spatz, Claude⁴ (AUTHOR), Brassier, Anais⁵ (AUTHOR), Gillard, Perrine³ (AUTHOR), Bremond-Gignac, Dominique⁶ (AUTHOR), Thouvenin, Dominique⁷ (AUTHOR), Pagan, Cecile⁸ (AUTHOR), Lamari, Foudil⁹ (AUTHOR), Nadjar, Yann¹ (AUTHOR) yann.nadjar@aphp.fr

Publikováno v: Orphanet Journal of Rare Diseases. 12/13/2022, Vol. 17 Issue 1, p1-6. 6p.