E-LIB Suche - Ergebnisse für: Valérie Biancalana

1

Exome sequencing in undiagnosed congenital myopathy reveals..:

de Feraudy, Yvan ; Vandroux, Marie ; Romero, Norma Beatriz...
Genome Medicine. 16 (2024) 1 - p. , 2024

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

2

Digenic inheritance involving a muscle-specific protein kin..:

Töpf, Ana ; Cox, Dan ; Zaharieva, Irina T....
Nature Genetics. 56 (2024) 3 - p. 395-407 , 2024

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

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/..

4

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/..

5

Severe ACTA1-related nemaline myopathy: intranuclear rods, ..:

Labasse, Clémence ; Brochier, Guy ; Taratuto, Ana-Lia...
Acta Neuropathologica Communications. 10 (2022) 1 - p. , 2022

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

6

A recurrent RYR1 mutation associated with early-onset hypot..:

Biancalana, Valérie ; Rendu, John ; Chaussenot, Annabelle...
Acta Neuropathologica Communications. 9 (2021) 1 - p. , 2021

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

7

A case ofASAH1‐related pure SMA evolving into adult‐onset F..:

Puma, Angela ; Ezaru, Andra ; Cavalli, Michele...
Clinical Genetics. 100 (2021) 2 - p. 234-235 , 2021

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

8

Phenotypic spectrum and genomics of undiagnosed arthrogrypo..:

Laquerriere, Annie ; Jaber, Dana ; Abiusi, Emanuela...
Journal of Medical Genetics. 59 (2021) 6 - p. 559-567 , 2021

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

9

Leveraging Natural History Data in One- and Two-Arm Hierarc..:

Monseur, Arnaud ; Carlin, Bradley P. ; Boulanger, Bruno...
Statistics in Biosciences. 14 (2021) 2 - p. 237-258 , 2021

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

10

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/..

11

Selective loss of a LAP1 isoform causes a muscle-specific n..:

Lornage, Xavière ; Mallaret, Martial ; Silva-Rojas, Roberto...
neurogenetics. 22 (2021) 1 - p. 33-41 , 2021

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

12

Glycogenin-1 deficiency mimicking limb-girdle muscular dyst..:

Lefeuvre, Claire ; Schaeffer, Stéphane ; Carlier, Robert-Yves...
Molecular Genetics and Metabolism Reports. 24 (2020) - p. 100597 , 2020

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

13

X-linked myotubular myopathy: A prospective international n..:

Annoussamy, Mélanie ; Lilien, Charlotte ; Gidaro, Teresa...
Neurology. 92 (2019) 16 - p. , 2019

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

14

Phosphoglycerate kinase deficiency: A nationwide multicente..:

Echaniz‐Laguna, Andoni ; Nadjar, Yann ; Béhin, Anthony...
Journal of Inherited Metabolic Disease. 42 (2019) 5 - p. 803-808 , 2019

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

15

Clinical, histological, and genetic characterization of PYR..:

Lornage, Xavière ; Schartner, Vanessa ; Balbueno, Inès...
Acta Neuropathologica Communications. 7 (2019) 1 - p. , 2019

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