E-LIB Suche - Ergebnisse für: Nadjar, Y.

1

Phenotypic variability related to dominant UCHL1 mutations:..:

Marelli, C. ; Ramond, F. ; Vignal, C....
Journal of Neurology. , 2024

Link: https://doi.org/10.1007/..

2

Causes de décès dans la maladie de Gaucher de type 1:

Deshayes, R. ; Nguyen, Y. ; Stirnemann, J....
La Revue de Médecine Interne. 45 (2024) - p. A91 , 2024

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

3

P.082 White matter abnormalities suggestive of multiple scl..:

Simo, J ; Ashton, C ; Rouleau, G..
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 50 (2023) s2 - p. S80-S80 , 2023

Link: https://doi.org/10.1017/..

4

Le registre français de la maladie de Gaucher : caractérist..:

Nguyen, Y. ; Stirnemann, J. ; Billette, T....
La Revue de Médecine Interne. 44 (2023) - p. A334 , 2023

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

5

Psychiatric burden in a cohort of adults with Niemann Pick ..:

Morin, A. ; Carle, G. ; Ponchel, A...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

6

Sensory neuronopathy as a major clinical feature of mitocho..:

Nadjar, Y. ; Souvannanorath, S. ; Maisonobe, T....
Revue Neurologique. 176 (2020) 5 - p. 380-386 , 2020

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

7

Unusual early‐onset and severe adrenomyeloneuropathy in wom..:

Azar, C. ; Cheillan, D. ; Nadjar, Y.
European Journal of Neurology. 27 (2020) 11 - p. , 2020

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

8

First report of young women presenting with severe form of ..:

Azar, C. ; Nadjar, Y.
Journal of the Neurological Sciences. 405 (2019) - p. 79 , 2019

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

9

METABOLIC MYOPATHIES I:

Echaniz-Laguna, A. ; Nadjar, Y. ; Béhin, A....
Neuromuscular Disorders. 28 (2018) - p. S114 , 2018

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

10

T.P.32:

Souvannanorath, S. ; Maisonobe, T. ; Valayannopoulos, V....
Neuromuscular Disorders. 24 (2014) 9-10 - p. 874 , 2014

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

11

Psychiatric burden in a cohort of adults with Niemann Pick ..:

Morin, A ; Carle, G ; Ponchel, A..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10517467/. , 2023

Link: http://www.ncbi.nlm.nih...

12

SUSD4 controls GLUA2 degradation, synaptic plasticity and m..:

González-Calvo, I ; Iyer, K ; Carquin, M...
info:eu-repo/semantics/altIdentifier/doi/10.7554/eLife.65712. , 2021

Link: https://hal.archives-ouv..

13

SUSD4 controls GLUA2 degradation, synaptic plasticity and m..:

González-Calvo, I ; Iyer, K ; Carquin, M...
info:eu-repo/semantics/altIdentifier/doi/10.7554/eLife.65712. , 2021

Link: https://hal.science/hal-..

14

SUSD4 controls GLUA2 degradation, synaptic plasticity and m..:

González-Calvo, I ; Iyer, K ; Carquin, M...
info:eu-repo/semantics/altIdentifier/doi/10.7554/eLife.65712. , 2021

Link: https://hal.science/hal-..

15

Expanding the FDXR-Associated Disease Phenotype: Retinal Dy..:

Jurkute, N ; Shanmugarajah, PD ; Hadjivassiliou, M...
https://discovery.ucl.ac.uk/id/eprint/10129122/1/i1552-5783-62-6-2_1619781296.53172.pdf. , 2021

Link: https://discovery.ucl.ac..