E-LIB Suche - Ergebnisse für: Métay, Corinne

1

Phenotype variability and natural history of X-linked myopa..:

Fernández-Eulate, Gorka ; Alfieri, Girolamo ; Spinazzi, Marco...
Journal of Neurology. , 2024

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

2

The FLNC Ala1186Val Variant Linked to Cytoplasmic Body Myop..:

Onnée, Marion ; Bénézit, Audrey ; Bastu, Sultan...
Biomedicines. 12 (2024) 2 - p. 322 , 2024

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

3

Dystrophies musculaires des ceintures associées aux mutatio..:

Guérémy, Alexandre ; Salort-Campana, Emmanuelle ; Fortanier, Etienne...
Revue Neurologique. 180 (2024) - p. S117 , 2024

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

4

DEFINING THE LANDSCAPE OF TIA1 AND SQSTM1 DIGENIC MYOPATHY:

Panos-Basterra, Paula ; Theuriet, Julian ; Nadaj-Pakleza, Aleksandra...
Neuromuscular Disorders. , 2024

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

5

Clinical and functional characterization of a long survivor..:

Cardone, Nastasia ; Moula, Melissa ; Baelde, Rianne J....
Acta Neuropathologica Communications. 11 (2023) 1 - p. , 2023

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

6

An early onset benign myopathy with glycogen storage caused..:

Severa, Gianmarco ; Pennisi, Alessandra ; Barnerias, Christine...
Neuromuscular Disorders. 33 (2023) 10 - p. 817-821 , 2023

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

7

Deep Characterization of a Greek Patient with Desmin-Relate..:

Papadopoulos, Constantinos ; Malfatti, Edoardo ; Métay, Corinne...
International Journal of Molecular Sciences. 24 (2023) 13 - p. 11181 , 2023

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

8

A severe case of PLOD1‐related kyphoscoliotic Ehlers–Danlos..:

Foy, Malika ; Métay, Corinne ; Frank, Michael...
Clinical Case Reports. 11 (2023) 2 - p. , 2023

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

9

Objective Evaluation of Clinical Actionability for Genes In..:

Vecten, Maude ; Pion, Emmanuelle ; Bartoli, Marc...
International Journal of Molecular Sciences. 23 (2022) 15 - p. 8506 , 2022

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

10

Novel dominant distal titinopathy phenotype associated with..:

Perrin, Aurélien ; Juntas Morales, Raul ; Chapon, Françoise...
Annals of Clinical and Translational Neurology. 8 (2021) 9 - p. 1906-1912 , 2021

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

11

Diagnostic interest of whole-body MRI in early- and late-on..:

Quijano-Roy, Susana ; Haberlova, Jana ; Castiglioni, Claudia...
Journal of Neurology. 269 (2021) 5 - p. 2414-2429 , 2021

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

12

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/..

13

An Integrated Clinical-Biological Approach to Identify Inte..:

Juntas Morales, Raul ; Perrin, Aurélien ; Solé, Guilhem...
Genes. 12 (2021) 8 - p. 1199 , 2021

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

14

A novel homozygous ALPK3 variant associated with cardiomyop..:

Papadopoulos, Constantinos ; Kekou, Kiriaki ; Anastasakis, Aris...
Muscle & Nerve. 65 (2021) 3 - p. , 2021

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

15

Two new cases of interstitial 7q35q36.1 deletion including ..:

Tosca, Lucie ; Drévillon, Loïc ; Mouka, Aurélie...
Molecular Genetics & Genomic Medicine. 9 (2021) 11 - p. , 2021

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