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Page 1
Clinical Characteristics, Developmental Trajectory, and Caregiver Burden of Patients With Creatine Transporter Deficiency (SLC6A8).
Curie A, Lion-François L, Valayannopoulos V, Perreton N, Gavanon M, Touil N, Brun-Laurisse A, Gheurbi F, Buchy M, Halep H, Cheillan D, Mercier C, Brassier A, Desnous B, Kassai B, De Lonlay P, Des Portes V. Curie A, et al. Among authors: cheillan d. Neurology. 2024 Apr 23;102(8):e209243. doi: 10.1212/WNL.0000000000209243. Epub 2024 Mar 26. Neurology. 2024. PMID: 38531017
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.
Wilson MP, Kentache T, Althoff CR, Schulz C, de Bettignies G, Mateu Cabrera G, Cimbalistiene L, Burnyte B, Yoon G, Costain G, Vuillaumier-Barrot S, Cheillan D, Rymen D, Rychtarova L, Hansikova H, Bury M, Dewulf JP, Caligiore F, Jaeken J, Cantagrel V, Van Schaftingen E, Matthijs G, Foulquier F, Bommer GT. Wilson MP, et al. Among authors: cheillan d. Cell. 2024 Jul 11;187(14):3585-3601.e22. doi: 10.1016/j.cell.2024.04.041. Epub 2024 May 30. Cell. 2024. PMID: 38821050 Free PMC article.
Functional and Molecular Characterization of New SPTLC1 Missense Variants in Patients with Hereditary Sensory and Autonomic Neuropathy Type 1 (HSAN1).
Rochat J, Blavier A, Ruet S, Vasseur S, Puma A, Desnous B, Chan V, Delmont E, Attarian S, Juntas Morales R, Quadrio I, Vidoni L, Bonello-Palot N, Cheillan D. Rochat J, et al. Among authors: cheillan d. Genes (Basel). 2024 May 26;15(6):692. doi: 10.3390/genes15060692. Genes (Basel). 2024. PMID: 38927628 Free PMC article.
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis.
Wilson MP, Kentache T, Althoff CR, Schulz C, de Bettignies G, Cabrera GM, Cimbalistiene L, Burnyte B, Yoon G, Costain G, Vuillaumier-Barrot S, Cheillan D, Rymen D, Rychtarova L, Hansikova H, Bury M, Dewulf JP, Caligiore F, Jaeken J, Cantagrel V, Van Schaftingen E, Matthijs G, Foulquier F, Bommer GT. Wilson MP, et al. Among authors: cheillan d. Cell. 2024 Jul 11;187(14):3784. doi: 10.1016/j.cell.2024.06.004. Epub 2024 Jun 12. Cell. 2024. PMID: 38870945 Free PMC article. No abstract available.
[New developments in neonatal screening].
Michel M, Cheillan D, Nguyen-Khoa T, Lachambre S, de Lonlay P, Arnoux JB, Courapied S, Khemiri A. Michel M, et al. Among authors: cheillan d. Rev Prat. 2023 Dec;73(10):1119-1123. Rev Prat. 2023. PMID: 38294483 French.
96 results