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Items: 20

1.

Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease.

Cousyn L, Law-Ye B, Pyatigorskaya N, Debs R, Froissart R, Piraud M, Federico A, Salvatore S, Cerase A, Macário MC, Durães J, Kim SH, Adachi H, Audoin B, Ayrignac X, Da Y, Henderson R, La Piana R, Laule C, Nakamagoe K, Raininko R, Schols L, Sirrs SM, Viader F, Jastrzębski K, Leclercq D, Nadjar Y.

Neurology. 2019 Aug 13;93(7):e647-e652. doi: 10.1212/WNL.0000000000007943. Epub 2019 Jul 23.

PMID:
31337714
2.

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.

J Neurol. 2019 Aug;266(8):2043-2050. doi: 10.1007/s00415-019-09377-y. Epub 2019 May 21.

PMID:
31115677
3.

Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study.

Echaniz-Laguna A, Nadjar Y, Béhin A, Biancalana V, Piraud M, Malfatti E, Laforêt P.

J Inherit Metab Dis. 2019 Sep;42(5):803-808. doi: 10.1002/jimd.12087. Epub 2019 Apr 8.

PMID:
30887539
4.

Betaine anhydrous in homocystinuria: results from the RoCH registry.

Valayannopoulos V, Schiff M, Guffon N, Nadjar Y, García-Cazorla A, Martinez-Pardo Casanova M, Cano A, Couce ML, Dalmau J, Peña-Quintana L, Rigalleau V, Touati G, Aldamiz-Echevarria L, Cathebras P, Eyer D, Brunet D, Damaj L, Dobbelaere D, Gay C, Hiéronimus S, Levrat V, Maillot F.

Orphanet J Rare Dis. 2019 Mar 14;14(1):66. doi: 10.1186/s13023-019-1036-2.

5.

Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?

Sobrido MJ, Bauer P, de Koning T, Klopstock T, Nadjar Y, Patterson MC, Synofzik M, Hendriksz CJ.

Orphanet J Rare Dis. 2019 Jan 21;14(1):20. doi: 10.1186/s13023-018-0985-1. Review.

6.

Cerebral folate deficiency in adults: A heterogeneous potentially treatable condition.

Masingue M, Benoist JF, Roze E, Moussa F, Sedel F, Lubetzki C, Nadjar Y.

J Neurol Sci. 2019 Jan 15;396:112-118. doi: 10.1016/j.jns.2018.11.014. Epub 2018 Nov 10.

PMID:
30448717
7.

Genetic findings in adolescent and adult-onset leukodystrophies with hypomyelinating features.

Macaron G, Samaan S, Cohen JA, Nadjar Y.

J Neurol Neurosurg Psychiatry. 2019 Jul;90(7):836-838. doi: 10.1136/jnnp-2018-319214. Epub 2018 Nov 2. No abstract available.

PMID:
30389777
8.

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.

Orphanet J Rare Dis. 2018 Oct 1;13(1):175. doi: 10.1186/s13023-018-0913-4.

9.

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases.

Codjia P, Ayrignac X, Mochel F, Mouzat K, Carra-Dalliere C, Castelnovo G, Ellie E, Etcharry-Bouyx F, Verny C, Belliard S, Hannequin D, Marelli C, Nadjar Y, Le Ber I, Dorboz I, Samaan S, Boespflug-Tanguy O, Lumbroso S, Labauge P.

AJNR Am J Neuroradiol. 2018 Sep;39(9):1657-1661. doi: 10.3174/ajnr.A5744. Epub 2018 Aug 16.

10.

Alanyl-tRNA Synthetase 2-Related Dementia with Selective Bilateral Frontal Cystic Leukoencephalopathy.

Carle G, Morin A, Noiray C, Roy-Joly P, Cohen L, Levy R, Samaan S, Nadjar Y.

J Clin Neurol. 2018 Jul;14(3):420-422. doi: 10.3988/jcn.2018.14.3.420. No abstract available.

11.

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).

Orphanet J Rare Dis. 2018 Apr 6;13(1):50. doi: 10.1186/s13023-018-0785-7. Review.

12.

Adolescence/adult onset MTHFR deficiency may manifest as isolated and treatable distinct neuro-psychiatric syndromes.

Gales A, Masingue M, Millecamps S, Giraudier S, Grosliere L, Adam C, Salim C, Navarro V, Nadjar Y.

Orphanet J Rare Dis. 2018 Feb 1;13(1):29. doi: 10.1186/s13023-018-0767-9. Review.

13.

Cognitive impairment profile in adult patients with Niemann pick type C disease.

Heitz C, Epelbaum S, Nadjar Y.

Orphanet J Rare Dis. 2017 Oct 18;12(1):166. doi: 10.1186/s13023-017-0714-1.

14.

Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses.

Piraud M, Pettazzoni M, Menegaut L, Caillaud C, Nadjar Y, Vianey-Saban C, Froissart R.

Rapid Commun Mass Spectrom. 2017 Jun 15;31(11):951-963. doi: 10.1002/rcm.7860.

PMID:
28370531
15.

Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment.

Masingue M, Adanyeguh I, Nadjar Y, Sedel F, Galanaud D, Mochel F.

Orphanet J Rare Dis. 2017 Feb 2;12(1):22. doi: 10.1186/s13023-017-0579-3.

16.

Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood.

Degos B, Nadjar Y, Amador Mdel M, Lamari F, Sedel F, Roze E, Couvert P, Mochel F.

Orphanet J Rare Dis. 2016 Apr 16;11:41. doi: 10.1186/s13023-016-0419-x.

17.

The Susd2 protein regulates neurite growth and excitatory synaptic density in hippocampal cultures.

Nadjar Y, Triller A, Bessereau JL, Dumoulin A.

Mol Cell Neurosci. 2015 Mar;65:82-91. doi: 10.1016/j.mcn.2015.02.007. Epub 2015 Feb 25.

PMID:
25724483
18.

Elevated serum ferritin is associated with reduced survival in amyotrophic lateral sclerosis.

Nadjar Y, Gordon P, Corcia P, Bensimon G, Pieroni L, Meininger V, Salachas F.

PLoS One. 2012;7(9):e45034. Epub 2012 Sep 14.

19.

Association between divalent metal transport 1 encoding gene (SLC11A2) and disease duration in amyotrophic lateral sclerosis.

Blasco H, Vourc'h P, Nadjar Y, Ribourtout B, Gordon PH, Guettard YO, Camu W, Praline J, Meininger V, Andres CR, Corcia P; French ALS study group.

J Neurol Sci. 2011 Apr 15;303(1-2):124-7. doi: 10.1016/j.jns.2010.12.018. Epub 2011 Jan 26.

PMID:
21276595
20.

Injection of interferon-beta in the morning decreases flu-like syndrome in many patients with multiple sclerosis.

Nadjar Y, Coutelas E, Prouteau P, Panzer F, Paquet D, Saint-Val C, Créange A.

Clin Neurol Neurosurg. 2011 May;113(4):316-22. doi: 10.1016/j.clineuro.2010.12.013. Epub 2011 Jan 26.

PMID:
21269761

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