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2011 2
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51 results

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Page 1
Consensus clinical management guidelines for Niemann-Pick disease type C.
Geberhiwot T, Moro A, Dardis A, Ramaswami U, Sirrs S, Marfa MP, Vanier MT, Walterfang M, Bolton S, Dawson C, Héron B, Stampfer M, Imrie J, Hendriksz C, Gissen P, Crushell E, Coll MJ, Nadjar Y, Klünemann H, Mengel E, Hrebicek M, Jones SA, Ory D, Bembi B, Patterson M; International Niemann-Pick Disease Registry (INPDR). Geberhiwot T, et al. Among authors: nadjar y. Orphanet J Rare Dis. 2018 Apr 6;13(1):50. doi: 10.1186/s13023-018-0785-7. Orphanet J Rare Dis. 2018. PMID: 29625568 Free PMC article. Review.
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.
Diagnosis and management of hepatic encephalopathy: The French recommendations.
Thabut D, Bouzbib C, Meunier L, Haas M, Weiss N, Louvet A, Imbert-Bismut F, Mochel F, Nadjar Y, Santiago A, Thevenot T, Duhalde V, Oberti F, Francoz C, Coilly A, Hilleret MN, Lebray P, Liou-Schischmanoff A, Barbier L, Duvoux C, Pageaux GP, Bismuth M, Galanaud D, Broucker T, Cadranel JF, Leroy V, Di Martino V, Larrey D, Camus C, Scatton O, De Ledinghen V, Mallat A, Rudler M, Bureau C; Association Française pour l'Etude du Foie (AFEF) group of experts of HE recommendations. Thabut D, et al. Among authors: nadjar y. Liver Int. 2023 Apr;43(4):750-762. doi: 10.1111/liv.15510. Epub 2023 Jan 24. Liver Int. 2023. PMID: 36625084 Review.
Plasma lysosphingolipids in GRN-related diseases: Monitoring lysosomal dysfunction to track disease progression.
Khrouf W, Saracino D, Rucheton B, Houot M, Clot F, Rinaldi D, Vitor J, Huynh M, Heng E, Schlemmer D, Pasquier F, Deramecourt V, Auriacombe S, Azuar C, Levy R, Bombois S, Boutoleau-Brétonnière C, Pariente J, Didic M, Wallon D, Fluchère F, Auvin S, Younes IB; French clinical and genetic research network on FTD/FTD-ALS; Predict-PGRN study group; Nadjar Y, Brice A, Dubois B, Bonnefont-Rousselot D, Le Ber I, Lamari F. Khrouf W, et al. Among authors: nadjar y. Neurobiol Dis. 2023 Jun 1;181:106108. doi: 10.1016/j.nbd.2023.106108. Epub 2023 Mar 30. Neurobiol Dis. 2023. PMID: 37003407 Free article.
Adrenomyeloneuropathy Masquerading as Chronic Myelitis.
Azar C, Shor N, Nadjar Y. Azar C, et al. Among authors: nadjar y. JAMA Neurol. 2020 Apr 1;77(4):522-523. doi: 10.1001/jamaneurol.2020.0019. JAMA Neurol. 2020. PMID: 32091543 No abstract available.
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.
Recurrent "outsider" intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from Maghreb.
Mansour-Hendili L, Gitiaux C, Harion M, Latouche C, Heron B, Stojkovic T, Rama M, Smol T, Sophie Jourdain A, Mention K, Nadjar Y, Schiff M, Lemale J, Ghoumid J, Gottrand F, Talbotec C, Rötig A, Funalot B, Desguerre I. Mansour-Hendili L, et al. Among authors: nadjar y. Front Genet. 2024 Jan 29;15:1352006. doi: 10.3389/fgene.2024.1352006. eCollection 2024. Front Genet. 2024. PMID: 38348452 Free PMC article.
51 results