Articles with public access mandates - Susana Quijano-RoyLearn more
Not available anywhere: 15
De novo LMNA mutations cause a new form of congenital muscular dystrophy
S Quijano‐Roy, B Mbieleu, CG Bönnemann, PY Jeannet, J Colomer, ...
Annals of Neurology: Official Journal of the American Neurological …, 2008
Mandates: National Institute of Health and Medical Research, France
Whole body muscle MRI protocol: pattern recognition in early onset NM disorders
S Quijano-Roy, D Avila-Smirnow, RY Carlier, ...
Neuromuscular Disorders 22, S68-S84, 2012
Mandates: National Institute of Health and Medical Research, France
Core-rod myopathy caused by mutations in the nebulin gene
NB Romero, VL Lehtokari, S Quijano-Roy, N Monnier, KG Claeys, ...
Neurology 73 (14), 1159-1161, 2009
Mandates: National Institute of Health and Medical Research, France
Whole‐body muscle magnetic resonance imaging in SEPN1‐related myopathy shows a homogeneous and recognizable pattern
K Hankiewicz, RY Carlier, L Lazaro, J Linzoain, C Barnerias, ...
Muscle & nerve 52 (5), 728-735, 2015
Mandates: European Commission
The value of respiratory muscle testing in children with neuromuscular disease
B Fauroux, S Quijano-Roy, I Desguerre, S Khirani
Chest 147 (2), 552-559, 2015
Mandates: National Institute of Health and Medical Research, France
Pediatric laminopathies: Whole‐body magnetic resonance imaging fingerprint and comparison with Sepn1 myopathy
D Gómez‐Andrés, I Dabaj, D Mompoint, K Hankiewicz, V Azzi, C Ioos, ...
Muscle & nerve 54 (2), 192-202, 2016
Mandates: National Institute of Health and Medical Research, France
Effect of salbutamol on respiratory muscle strength in spinal muscular atrophy
S Khirani, I Dabaj, A Amaddeo, JO Arroyo, J Ropers, S Tirolien, V Coudert, ...
Pediatric Neurology 73, 78-87. e1, 2017
Mandates: National Institute of Health and Medical Research, France
Utility and practice of electrodiagnostic testing in the pediatric population: an AANEM consensus statement
PB Kang, HJ McMillan, NL Kuntz, TJ Lehky, KE Alter, KF Fitzpatrick, ...
Muscle & Nerve 61 (2), 143-155, 2020
Mandates: US National Institutes of Health
Disease duration and disability in dysfeRlinopathy can be described by muscle imaging using heatmaps and random forests
D Gómez‐Andrés, J Díaz, F Munell, Á Sánchez‐Montáñez, ...
Muscle & nerve 59 (4), 436-444, 2019
Mandates: European Commission
Respiratory insight to congenital muscular dystrophies and congenital myopathies and its relation to clinical trial
B Fauroux, A Amaddeo, S Quijano-Roy, C Barnerias, I Desguerre, ...
Neuromuscular Disorders 28 (9), 731-740, 2018
Mandates: National Institute of Health and Medical Research, France
CHRNG‐related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings
L Carrera‐García, D Natera‐de Benito, K Dieterich, MGG de la Banda, ...
American Journal of Medical Genetics Part A 179 (6), 915-926, 2019
Mandates: Government of Spain
Asymmetric muscle weakness due to ACTA1 mosaic mutations
X Lornage, S Quijano-Roy, H Amthor, RY Carlier, N Monnier, JF Deleuze, ...
Neurology 95 (24), e3406-e3411, 2020
Mandates: National Institute of Health and Medical Research, France, Agence Nationale …
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort
S Quijano-Roy, J Haberlova, C Castiglioni, J Vissing, F Munell, F Rivier, ...
Journal of Neurology, 1-16, 2022
Mandates: Government of Spain
Muscular, Ocular and Brain Involvement Associated with a De Novo 11q13. 2q14. 1 Duplication: Contribution to the Differential Diagnosis of Muscle-Eye-Brain Congenital Muscular …
RN Villar-Quiles, M Gomez-Garcia de la Banda, A Barois, ...
Journal of Neuromuscular Diseases 7 (1), 69-76, 2020
Mandates: National Institute of Health and Medical Research, France
Respiratory muscle testing and diaphragm
S Khirani, I Dabaj, A Amaddeo, A Ramirez, S Quijano‐Roy, B Fauroux
Respirology Case Reports 2 (3), 95-98, 2014
Mandates: National Institute of Health and Medical Research, France
Available somewhere: 54
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care
E Mercuri, RS Finkel, F Muntoni, B Wirth, J Montes, M Main, ES Mazzone, ...
Neuromuscular disorders 28 (2), 103-115, 2018
Mandates: Fondazione Telethon, Italy, National Institute for Health Research, UK
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics
RS Finkel, E Mercuri, OH Meyer, AK Simonds, MK Schroth, RJ Graham, ...
Neuromuscular Disorders 28 (3), 197-207, 2018
Mandates: Fondazione Telethon, Italy, National Institute for Health Research, UK
Diagnostic approach to the congenital muscular dystrophies
CG Bönnemann, CH Wang, S Quijano-Roy, N Deconinck, E Bertini, ...
Neuromuscular disorders 24 (4), 289-311, 2014
Mandates: US National Institutes of Health, Fondazione Telethon, Italy, UK Medical …
Approach to the diagnosis of congenital myopathies
KN North, CH Wang, N Clarke, H Jungbluth, M Vainzof, JJ Dowling, ...
Neuromuscular disorders 24 (2), 97-116, 2014
Mandates: US National Institutes of Health, UK Medical Research Council
C‐terminal titin deletions cause a novel early‐onset myopathy with fatal cardiomyopathy
V Carmignac, MAM Salih, S Quijano‐Roy, S Marchand, MM Al Rayess, ...
Annals of neurology 61 (4), 340-351, 2007
Mandates: British Heart Foundation
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