E-LIB Suche - Ergebnisse für: Nadjar, Yann

1

Cognitive impairment in children and adults with cerebroten..:

Salardaine, Quentin ; Shor, Natalia ; Villain, Nicolas...
Journal of Inherited Metabolic Disease. , 2024

Link: https://doi.org/10.1002/..

2

An unusual diagnosis of alpha‐mannosidosis with ocular anom..:

Uguen, Kevin ; Redon, Sylvia ; Rouault, Karen...
American Journal of Medical Genetics Part A. 194 (2024) 5 - p. , 2024

Link: https://doi.org/10.1002/..

3

Recurrent "outsider" intronic variation in the SLC5A6 gene ..:

Mansour-Hendili, Lamisse ; Gitiaux, Cyril ; Harion, Madeleine...
Frontiers in Genetics. 15 (2024) - p. , 2024

Link: https://doi.org/10.3389/..

4

Le syndrome LHIPFOLD : une nouvelle cause traitable de leuc..:

Mandia, Daniele ; Metodiev, Metodi ; Benoist, Jean-François...
Revue Neurologique. 180 (2024) - p. S23 , 2024

Link: https://doi.org/10.1016/..

5

Plasma lysosphingolipids in GRN-related diseases: Monitorin..:

Khrouf, Walid ; Saracino, Dario ; Rucheton, Benoit...
Neurobiology of Disease. 181 (2023) - p. 106108 , 2023

Link: https://doi.org/10.1016/..

6

Troubles cognitifs dans la xanthomatose cérébrotendineuse :..:

Salardaine, Quentin ; Shor, Natalia ; Villain, Nicolas...
Revue Neurologique. 179 (2023) - p. S36-S37 , 2023

Link: https://doi.org/10.1016/..

7

Contributors:

, In: Vitamins and Minerals in Neurological Disorders,

Adlard, Paul A. ; Afridi, Hassan Imran ; Agarwal, Renu... - p. xxv-xxxiv , 2023

Link: https://doi.org/10.1016/..

8

Riboflavin and lower motor neuron diseases:

, In: Vitamins and Minerals in Neurological Disorders,

Nadjar, Yann ; Fernandez, Gorka - p. 107-118 , 2023

Link: https://doi.org/10.1016/..

9

Expanding the spectrum of white matter abnormalities in Wol..:

Simo, Justin ; Ashton, Catherine ; Ito, Shoichi...
Journal of the Neurological Sciences. 455 (2023) - p. 121993 , 2023

Link: https://doi.org/10.1016/..

10

Overview of Niemann-Pick type C disease in France 1975–2020..:

Pettazzoni, Magali ; Pagan, Cecile ; Latour, Philippe...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 107264 , 2023

Link: https://doi.org/10.1016/..

11

Diagnosis and management of hepatic encephalopathy: The Fre..:

Thabut, Dominique ; Bouzbib, Charlotte ; Meunier, Lucy...
Liver International. 43 (2023) 4 - p. 750-762 , 2023

Link: https://doi.org/10.1111/..

12

Expansion et raffinement du spectre clinique de l'acidurie ..:

Thomas, Quentin ; Chiara, Benzoni ; Salsano, Ettore...
Revue Neurologique. 179 (2023) - p. S38 , 2023

Link: https://doi.org/10.1016/..

13

Plasma GM2 ganglioside potential biomarker for diagnosis, p..:

Blondel, Amélie ; Kraoua, Ichraf ; Marcelino, Chloé...
Molecular Genetics and Metabolism. 138 (2023) 2 - p. 106983 , 2023

Link: https://doi.org/10.1016/..

14

Imaging Features of Adult-Onset Genetic Leukodystrophies Mi..:

Carlson, Alise ; Obusez, Emmanuel ; Shor, Natalia...
Neurology. 98 (2022) 18_supplement - p. , 2022

Link: https://doi.org/10.1212/..

15

Diagnostic approach in adult-onset neurometabolic diseases:

Fernández-Eulate, Gorka ; Carreau, Christophe ; Benoist, Jean-François...
Journal of Neurology, Neurosurgery & Psychiatry. 93 (2022) 4 - p. 413-421 , 2022

Link: https://doi.org/10.1136/..