Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Anelia Benarrosh"'
Autor:
Claire Guissart, Eugénie Mutez, Clarisse Carra-Dalliere, Mathieu Anheim, Danielle Cuntz-Shadfar, Adrian Degardin, Jean-Philippe Villemin, Sabrina Sacconi, Jean-Philippe Azulay, Christine Tranchant, Nicolas Pageot, Michel Koenig, Victoria Gonzalez, Xavier Ayrignac, Cécile Hubsch, Christian Geny, Claude Mignard, Dominique Chretien, Elisabeth Ollagnon, Cecilia Marelli, Cyril Goizet, Raul Juntas Morales, Bertrand Carlander, Lise Larrieu, Laurine Perrin, Mireille Claustres, Ouhaid Lagha-Boukbiza, Patrick Calvas, Anelia Benarrosh, Mathilde Renaud, Souhayla Azakri, Pierre Labauge, Patrick Collignon, Perrine Charles
Publikováno v:
Human Mutation. 37:1340-1353
Next-generation sequencing (NGS) has an established diagnostic value for inherited ataxia. However, the need of a rigorous process of analysis and validation remains challenging. Moreover, copy number variations (CNV) or dynamic expansions of repeate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f60325e5870d6593610f7db27844b41c
https://doi.org/10.1002/humu.23063
https://doi.org/10.1002/humu.23063
Autor:
Niklaus Hofliger, Almogit Abu-Horvitz, Yair Anikster, Maya Dushnitzky, Nurit Goldstein, Ifat Bar-Joseph, Ben Pode-Shakked, Haike Reznik-Wolf, Roselyne Garnotel, Michal Dekel, Philippe Gillery, Elon Pras, Anelia Benarrosh, Shlomit Rienstein, Joseph Zlotnik, Christiane Auray-Blais, D. Marek-Yagel
Publikováno v:
Human genetics. 131(11)
Sarcosinemia is an autosomal recessive metabolic trait manifested by relatively high concentrations of sarcosine in blood and urine. Sarcosine is a key intermediate in 1-carbon metabolism and under normal circumstances is converted to glycine by the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db8c1522fbfc2f1ad9682029a457862c
https://pubmed.ncbi.nlm.nih.gov/22825317
https://pubmed.ncbi.nlm.nih.gov/22825317