E-LIB Suche - Ergebnisse für: Carlier, Robert Y.

1

Diagnostic work-up and phenotypic characteristics of a fami..:

Dabaj, Ivana ; Carlier, Robert Y. ; Dieterich, Klaus...
Frontiers in Genetics. 13 (2023) - p. , 2023

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

2

Postnatal Diagnostic Workup in Children With Arthrogryposis..:

Chareyre, Judith ; Neuraz, Antoine ; Badina, Alina...
Journal of Child Neurology. 36 (2021) 12 - p. 1071-1077 , 2021

Link: https://doi.org/10.1177/..

3

A TOR1AIP1 variant segregating with an early onset limb gir..:

Malfatti, Edoardo ; Catchpool, Tara ; Nouioua, Sonia...
Neuropathology and Applied Neurobiology. 48 (2021) 1 - p. , 2021

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

4

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/..

5

Assessment of respiratory muscles and motor function in chi..:

Gómez‐García de la Banda, Marta ; Amaddeo, Alessandro ; Khirani, Sonia...
Pediatric Pulmonology. 56 (2020) 1 - p. 299-306 , 2020

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

6

MYO-MRI diagnostic protocols in genetic myopathies:

Warman Chardon, Jodi ; Díaz-Manera, Jordi ; Tasca, Giorgio...
Neuromuscular Disorders. 29 (2019) 11 - p. 827-841 , 2019

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

7

European muscle MRI study in limb girdle muscular dystrophy..:

Barp, Andrea ; Laforet, Pascal ; Bello, Luca...
Journal of Neurology. 267 (2019) 1 - p. 45-56 , 2019

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

8

CHRNG‐related nonlethal multiple pterygium syndrome: Muscle..:

Carrera‐García, Laura ; Natera‐de Benito, Daniel ; Dieterich, Klaus...
American Journal of Medical Genetics Part A. 179 (2019) 6 - p. 915-926 , 2019

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

9

ACTN2 mutations cause "Multiple structured Core Disease" (M..:

Lornage, Xavière ; Romero, Norma B. ; Grosgogeat, Claire A....
Acta Neuropathologica. 137 (2019) 3 - p. 501-519 , 2019

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

10

The first French case of MATR3-related distal myopathy: Cli..:

Barp, A. ; Malfatti, Edoardo ; Metay, Corinne...
Revue Neurologique. 174 (2018) 10 - p. 752-755 , 2018

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

11

Clinical and imaging hallmarks of the MYH7‐related myopathy..:

Dabaj, Ivana ; Carlier, Robert Y ; Gómez‐Andrés, David...
Muscle & Nerve. 58 (2018) 2 - p. 224-234 , 2018

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

12

Muscle imaging in laminopathies: Synthesis study identifies..:

GóMez‐Andrés, David ; Díaz‐Manera, Jordi ; Alejaldre, Aida...
Muscle & Nerve. 58 (2018) 6 - p. 812-817 , 2018

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

13

Qualitative and quantitative evaluation of skeletal muscle ..:

Baudin, Pierre-Yves ; Marty, Benjamin ; Robert, Benjamin...
Neuromuscular Disorders. 25 (2015) 10 - p. 758-763 , 2015

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

14

Whole‐body muscle magnetic resonance imaging in SEPN1‐relat..:

Hankiewicz, Karolina ; Carlier, Robert Y. ; Lazaro, Leila...
Muscle & Nerve. 52 (2015) 5 - p. 728-735 , 2015

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

15

Severe Charcot spinal arthropathy:

Dinh, Aurelien ; Descatha, Alexis ; Carlier, Robert Y.
The Spine Journal. 13 (2013) 10 - p. 1406-1407 , 2013

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