E-LIB Suche - Ergebnisse für: Allamand, Valérie

1

European Joint Programme on Rare Diseases workshop: LAMA2-m..:

Smeets, Hubert ; Verbrugge, Bram ; Bulbena, Xavier...
Neuromuscular Disorders. 36 (2024) - p. 16-22 , 2024

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

2

Editorial: Extracellular matrix in homeostasis and cancer:

Carlos, Ana Rita ; Allamand, Valérie
Frontiers in Genetics. 13 (2022) - p. , 2022

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

3

Gènètique : Des variants récessifs du gène COL25A1 comme no..:

Allamand, Valérie
Les Cahiers de Myologie. , 2022

Link: https://doi.org/10.1051/..

4

Intrafamilial Phenotypic Variability of Collagen VI-Related..:

Bardakov, Sergey N. ; Deev, Roman V. ; Magomedova, Raisat M....
Journal of Neuromuscular Diseases. 8 (2021) 2 - p. 273-285 , 2021

Link: https://doi.org/10.3233/..

5

A novel COL1A1 variant in a family with clinical features o..:

Foy, Malika ; De Mazancourt, Philippe ; Métay, Corinne...
Clinical Case Reports. 9 (2021) 9 - p. , 2021

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

6

Antioxidants Reduce Muscular Dystrophy in the dy2J/dy2J Mou..:

M. Harandi, Vahid ; Moreira Soares Oliveira, Bernardo ; Allamand, Valérie...
Antioxidants. 9 (2020) 3 - p. 244 , 2020

Link: https://doi.org/10.3390/..

7

212th ENMC International Workshop:

Saunier, M. ; Bönnemann, C.G. ; Durbeej, M....
Neuromuscular Disorders. 26 (2016) 3 - p. 252-259 , 2016

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

8

The transcription coactivator ASC-1 is a regulator of skele..:

Davignon, Laurianne ; Chauveau, Claire ; Julien, Cédric...
Human Molecular Genetics. 25 (2016) 8 - p. 1559-1573 , 2016

Link: https://doi.org/10.1093/..

9

Two novel COLVI long chains in zebrafish that are essential..:

Ramanoudjame, Laetitia ; Rocancourt, Claire ; Lainé, Jeanne...
Human Molecular Genetics. 24 (2015) 23 - p. 6624-6639 , 2015

Link: https://doi.org/10.1093/..

10

Abnormal splicing switch of DMD's penultimate exon compromi..:

Rau, Frédérique ; Lainé, Jeanne ; Ramanoudjame, Laetitita...
Nature Communications. 6 (2015) 1 - p. , 2015

Link: https://doi.org/10.1038/..

11

Compound heterozygous mutations of the TNXB gene cause prim..:

Allamand, Valérie ; Beurrier, Philippe ; Martin, Ludovic...
Neuromuscular Disorders. 24 (2014) 1 - p. 89 , 2014

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

12

Congenital muscular dystrophy phenotype with neuromuscular ..:

Bolocan, Anamaria ; Quijano-Roy, Susana ; Seferian, Andreea M....
Neuromuscular Disorders. 24 (2014) 11 - p. 993-998 , 2014

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

13

Natural history of pulmonary function in collagen VI-relate..:

Foley, A. Reghan ; Quijano-Roy, Susana ; Collins, James...
Brain. 136 (2013) 12 - p. 3625-3633 , 2013

Link: https://doi.org/10.1093/..

14

Compound heterozygous mutations of the TNXB gene cause prim..:

Pénisson-Besnier, Isabelle ; Allamand, Valérie ; Beurrier, Philippe...
Neuromuscular Disorders. 23 (2013) 8 - p. 664-669 , 2013

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

15

Selenoprotein N in skeletal muscle: from diseases to functi..:

Castets, Perrine ; Lescure, Alain ; Guicheney, Pascale.
Journal of Molecular Medicine. 90 (2012) 10 - p. 1095-1107 , 2012

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