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

Year Number of Results
2004 2
2005 1
2006 1
2008 2
2009 1
2011 4
2012 6
2013 2
2014 2
2015 5
2016 5
2017 4
2018 9
2019 7
2020 6
2021 6
2022 9
2023 6
2024 3

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68 results

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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
[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.
Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS.
Guissart C, De la Cruz E, Flabeau O, Grapperon AM, Corazza G, Junilhon L, Delmas JC, Millecamps S, Polge A, Amador MDM, Salachas F, Rochat J, Goizet C, Juntas Morales R, Lumbroso S, Philibert P, Cheillan D, Mouzat K. Guissart C, et al. Among authors: cheillan d. J Neurol Neurosurg Psychiatry. 2024 Feb 14;95(3):288-290. doi: 10.1136/jnnp-2023-331753. J Neurol Neurosurg Psychiatry. 2024. PMID: 38041669 No abstract available.
Reply to Maase et al. Comment on "Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. Int. J. Neonatal Screen. 2022, 8, 20".
Jones SA, Cheillan D, Chakrapani A, Church HJ, Heales S, Wu THY, Morton G, Roberts P, Sluys EF, Burlina A. Jones SA, et al. Among authors: cheillan d. Int J Neonatal Screen. 2023 Feb 16;9(1):8. doi: 10.3390/ijns9010008. Int J Neonatal Screen. 2023. PMID: 36810320 Free PMC article.
Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France.
Lefèvre CR, Labarthe F, Dufour D, Moreau C, Faoucher M, Rollier P, Arnoux JB, Tardieu M, Damaj L, Bendavid C, Dessein AF, Acquaviva-Bourdain C, Cheillan D. Lefèvre CR, et al. Among authors: cheillan d. Int J Neonatal Screen. 2023 Feb 1;9(1):6. doi: 10.3390/ijns9010006. Int J Neonatal Screen. 2023. PMID: 36810318 Free PMC article. Review.
Potential Role of Sphingolipidoses-Associated Lysosphingolipids in Cancer.
Dubot P, Astudillo L, Therville N, Carrié L, Pettazzoni M, Cheillan D, Stirnemann J, Levade T, Andrieu-Abadie N, Sabourdy F. Dubot P, et al. Among authors: cheillan d. Cancers (Basel). 2022 Oct 5;14(19):4858. doi: 10.3390/cancers14194858. Cancers (Basel). 2022. PMID: 36230781 Free PMC article. Review.
68 results