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Page 1
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.
Nadjar Y, Hütter-Moncada AL, Latour P, Ayrignac X, Kaphan E, Tranchant C, Cintas P, Degardin A, Goizet C, Laurencin C, Martzolff L, Tilikete C, Anheim M, Audoin B, Deramecourt V, De Gaillarbois TD, Roze E, Lamari F, Vanier MT, Héron B. Nadjar Y, et al. Orphanet J Rare Dis. 2018 Oct 1;13(1):175. doi: 10.1186/s13023-018-0913-4. Orphanet J Rare Dis. 2018. PMID: 30285904 Free PMC article.
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: nadjar y. J Neurol. 2019 Aug;266(8):2043-2050. doi: 10.1007/s00415-019-09377-y. Epub 2019 May 21. J Neurol. 2019. PMID: 31115677
Natural History of Adult Patients with GM2 Gangliosidosis.
Masingue M, Dufour L, Lenglet T, Saleille L, Goizet C, Ayrignac X, Ory-Magne F, Barth M, Lamari F, Mandia D, Caillaud C, Nadjar Y. Masingue M, et al. Among authors: nadjar y. Ann Neurol. 2020 Apr;87(4):609-617. doi: 10.1002/ana.25689. Epub 2020 Feb 7. Ann Neurol. 2020. PMID: 31995250
A Proteomics-Based Analysis Reveals Predictive Biological Patterns in Fabry Disease.
Tebani A, Mauhin W, Abily-Donval L, Lesueur C, Berger MG, Nadjar Y, Berger J, Benveniste O, Lamari F, Laforêt P, Noel E, Marret S, Lidove O, Bekri S. Tebani A, et al. Among authors: nadjar y. J Clin Med. 2020 May 2;9(5):1325. doi: 10.3390/jcm9051325. J Clin Med. 2020. PMID: 32370284 Free PMC article.
High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disorders.
Mandia D, Plaze M, Le Ber I, Ewenczyk C, Morin A, Carle G, Consoli A, Degardin A, Amad A, Moreau C, Anheim M, Tranchant C, Mélé N, Roue-Jagot C, Lagarde J, Sarazin M, Hamelin L, Ellul P, Pagan C, Pettazzoni M, Bekri S, Belliard S, Goizet C, Wallon D, Lamari F, Nadjar Y. Mandia D, et al. Among authors: nadjar y. J Neurol. 2020 Nov;267(11):3371-3377. doi: 10.1007/s00415-020-10020-4. Epub 2020 Jun 26. J Neurol. 2020. PMID: 32592146
Diagnostic approach in adult-onset neurometabolic diseases.
Fernández-Eulate G, Carreau C, Benoist JF, Lamari F, Rucheton B, Shor N, Nadjar Y. Fernández-Eulate G, et al. Among authors: nadjar y. J Neurol Neurosurg Psychiatry. 2022 Apr;93(4):413-421. doi: 10.1136/jnnp-2021-328045. Epub 2022 Feb 9. J Neurol Neurosurg Psychiatry. 2022. PMID: 35140137 Free PMC article. Review.
Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients.
Gardin A, Castelle M, Pichard S, Cano A, Chabrol B, Piarroux J, Roubertie A, Nadjar Y, Guemann AS, Tardieu M, Lacombe D, Robert MP, Caillaud C, Froissart R, Leboeuf V, Barbier V, Bouchereau J, Schiff M, Fauroux B, Thierry B, Luscan R, James S, de Saint-Denis T, Pannier S, Gitiaux C, Vergnaud E, Boddaert N, Lascourreges C, Lemoine M, Bonnet D, Blanche S, Dalle JH, Neven B, de Lonlay P, Brassier A. Gardin A, et al. Among authors: nadjar y. Bone Marrow Transplant. 2023 Mar;58(3):295-302. doi: 10.1038/s41409-022-01886-1. Epub 2022 Dec 9. Bone Marrow Transplant. 2023. PMID: 36494569 Free PMC article.
48 results