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Métay, Corinne
225  results:
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1

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/..
 
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2

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/..
 
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3

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/..
 
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4

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/..
 
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5

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/..
 
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6

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/..
 
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7

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/..
 
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8

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/..
 
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9

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/..
 
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10

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/..
 
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11

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/..
 
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12

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/..
 
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13

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/..
 
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14

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/..
 
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15

The clinical, histologic, and genotypic spectrum ofSEPN1-re..:

Villar-Quiles, Rocio N. ; von der Hagen, Maja ; Métay, Corinne...
Neurology.  95 (2020)  11 - p. , 2020
Link: https://doi.org/10.1212/..
 
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