Caveolinopathy: Clinical, histological, and muscle imaging features and follow‐up in a multicenter retrospective cohort
Berling, Edouard, Verebi, Camille, Venturelli, Nadia, Vassilopoulos, Stéphane, Béhin, Anthony, Tard, Céline, Michaud, Maud, Quiles, Rocio Nur Villar, Vicart, Savine, Masingue, Marion, Carlier, Robert‐Yves, Romero, Norma Beatriz, Lacene, Emmanuelle, Leturcq, France, Eymard, Bruno, Laforêt, Pascal, Stojkovic, Tanya
Published in European journal of neurology (01.08.2023)
Published in European journal of neurology (01.08.2023)
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Journal Article
Macroglossia: A potentially severe complication of late‐onset Pompe disease
Dupé, Charlotte, Lefeuvre, Claire, Solé, Guilhem, Behin, Anthony, Pottier, Corinne, Duval, Fanny, Carlier, Robert‐Yves, Prigent, Hélène, Lacau St Guily, Jean, Arrassi, Azzeddine, Taouagh, Nadjib, Hamroun, Dalil, Nicolas, Guillaume, Laforêt, Pascal
Published in European journal of neurology (01.07.2022)
Published in European journal of neurology (01.07.2022)
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Journal Article
Neurogenic heterotopic ossification of the hip: Magnetic resonance imaging versus computed tomography for pre-surgical assessment
Amar, Raphaël, Salga, Marjorie, Tordjman, Mickaël, Venturelli, Nadia, Nkam, Lionelle, Jacota, Madalina, Grimaldi-Bensouda, Lamiae, Cale, Fabien, Carlier, Robert-Yves
Published in European journal of radiology (01.06.2024)
Published in European journal of radiology (01.06.2024)
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Journal Article
Whole‐Body Muscle Magnetic Resonance Imaging in Glycogen‐Storage Disease Type III
Tobaly, David, Laforêt, Pascal, Perry, Ariane, Habes, Dalila, Labrune, Philippe, Decostre, Valerie, Masingue, Marion, Petit, Francois, Barp, Andrea, Bello, Luca, Carlier, Pierre, Carlier, Robert‐Yves
Published in Muscle & nerve (01.07.2019)
Published in Muscle & nerve (01.07.2019)
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Journal Article
Skeletal muscle quantitative nuclear magnetic resonance imaging follow-up of adult Pompe patients
Carlier, Pierre G., Azzabou, Noura, de Sousa, Paulo Loureiro, Hicks, Arnaud, Boisserie, Jean-Marc, Amadon, Alexis, Carlier, Robert-Yves, Wary, Claire, Orlikowski, David, Laforêt, Pascal
Published in Journal of inherited metabolic disease (01.05.2015)
Published in Journal of inherited metabolic disease (01.05.2015)
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Journal Article
Hyperckemia and myalgia are common presentations of anoctamin‐5‐related myopathy in French patients
Papadopoulos, Constantinos, LaforÊt, Pascal, Nectoux, Juliette, Stojkovic, Tanya, Wahbi, Karim, Carlier, Robert‐Yves, Carlier, Pierre G, Leonard‐Louis, Sarah, Leturcq, France, Romero, Norma, Eymard, Bruno, Behin, Anthony
Published in Muscle & nerve (01.12.2017)
Published in Muscle & nerve (01.12.2017)
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Journal Article
MRI in sarcoglycanopathies: a large international cohort study
Tasca, Giorgio, Monforte, Mauro, Díaz-Manera, Jordi, Brisca, Giacomo, Semplicini, Claudio, D’Amico, Adele, Fattori, Fabiana, Pichiecchio, Anna, Berardinelli, Angela, Maggi, Lorenzo, Maccagnano, Elio, Løkken, Nicoline, Marini-Bettolo, Chiara, Munell, Francina, Sanchez, Angel, Alshaikh, Nahla, Voermans, Nicol C, Dastgir, Jahannaz, Vlodavets, Dmitry, Haberlová, Jana, Magnano, Gianmichele, Walter, Maggie C, Quijano-Roy, Susana, Carlier, Robert-Yves, van Engelen, Baziel G M, Vissing, John, Straub, Volker, Bönnemann, Carsten G, Mercuri, Eugenio, Muntoni, Francesco, Pegoraro, Elena, Bertini, Enrico, Udd, Bjarne, Ricci, Enzo, Bruno, Claudio
Published in Journal of neurology, neurosurgery and psychiatry (01.01.2018)
Published in Journal of neurology, neurosurgery and psychiatry (01.01.2018)
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Journal Article
Pre-test probability for SARS-Cov-2-related infection score: The PARIS score
Tordjman, Mickael, Mekki, Ahmed, Mali, Rahul D, Saab, Ines, Chassagnon, Guillaume, Guillo, Enora, Burns, Robert, Eshagh, Deborah, Beaune, Sebastien, Madelin, Guillaume, Bessis, Simon, Feydy, Antoine, Mihoubi, Fadila, Doumenc, Benoit, Mouthon, Luc, Carlier, Robert-Yves, Drapé, Jean-Luc, Revel, Marie-Pierre
Published in PloS one (17.12.2020)
Published in PloS one (17.12.2020)
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Journal Article
Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity
Tordjman, Mickael, Dabaj, Ivana, Laforet, Pascal, Felter, Adrien, Ferreiro, Ana, Biyoukar, Moustafa, Law-Ye, Bruno, Zanoteli, Edmar, Castiglioni, Claudia, Rendu, John, Beroud, Christophe, Chamouni, Alexandre, Richard, Pascale, Mompoint, Dominique, Quijano-Roy, Susana, Carlier, Robert-Yves
Published in European radiology (01.12.2018)
Published in European radiology (01.12.2018)
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Journal Article
Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss
Baumann, Matthias, Giunta, Cecilia, Krabichler, Birgit, Rüschendorf, Franz, Zoppi, Nicoletta, Colombi, Marina, Bittner, Reginald E., Quijano-Roy, Susana, Muntoni, Francesco, Cirak, Sebahattin, Schreiber, Gudrun, Zou, Yaqun, Hu, Ying, Romero, Norma Beatriz, Carlier, Robert Yves, Amberger, Albert, Deutschmann, Andrea, Straub, Volker, Rohrbach, Marianne, Steinmann, Beat, Rostásy, Kevin, Karall, Daniela, Bönnemann, Carsten G., Zschocke, Johannes, Fauth, Christine
Published in American journal of human genetics (10.02.2012)
Published in American journal of human genetics (10.02.2012)
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Journal Article
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods
Lornage, Xavière, Malfatti, Edoardo, Chéraud, Chrystel, Schneider, Raphaël, Biancalana, Valérie, Cuisset, Jean‐Marie, Garibaldi, Matteo, Eymard, Bruno, Fardeau, Michel, Boland, Anne, Deleuze, Jean‐François, Thompson, Julie, Carlier, Robert‐Yves, Böhm, Johann, Romero, Norma B., Laporte, Jocelyn
Published in Annals of neurology (01.03.2017)
Published in Annals of neurology (01.03.2017)
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Journal Article
WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codon
Masingue, Marion, Perrot, Jimmy, Carlier, Robert-Yves, Piguet-Lacroix, Guenaelle, Latour, Philippe, Stojkovic, Tanya
Published in Neurogenetics (01.05.2018)
Published in Neurogenetics (01.05.2018)
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Journal Article
Predictive factors for positive disco-vertebral biopsy culture in pyogenic vertebral osteomyelitis, and impact of fluoroscopic versus scanographic guidance
Diffre, Caroline, Jousset, Camille, Roux, Anne-Laure, Duran, Clara, Noussair, Latifa, Rottman, Martin, Carlier, Robert-Yves, Dinh, Aurélien
Published in BMC infectious diseases (16.07.2020)
Published in BMC infectious diseases (16.07.2020)
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Journal Article
Comparison of magnetic resonance imaging and computed tomography for bone assessment of neurogenic heterotopic ossification of the hip: a preliminary study
Amar, Raphaël, Thiry, Tristan, Salga, Marjorie, Safa, Dominique, Chetrit, Annaëlle, Gatin, Laure, Carlier, Robert-Yves
Published in Journal of orthopaedic surgery and research (20.12.2021)
Published in Journal of orthopaedic surgery and research (20.12.2021)
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Journal Article
Contribution of Interventional Radiologist in the Management of Pseudoaneurysm and Neck Hemorrhages in COVID-19 patients
Zhang, Norbert, Lechien, Jérôme R., Martinez, Valéria, Carlier, Robert-Yves, El Hajjam, Mostafa
Published in Ear, nose, & throat journal (01.04.2021)
Published in Ear, nose, & throat journal (01.04.2021)
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Journal Article
Understanding a mass in the paraspinal region: an anatomical approach
Creze, Maud, Ghaouche, Jessica, Missenard, Gilles, Lazure, Thierry, Cluzel, Guillaume, Devilder, Matthieu, Briand, Sylvain, Soubeyrand, Marc, Meyrignac, Olivier, Carlier, Robert-Yves, Court, Charles, Bouthors, Charlie
Published in Insights into imaging (19.07.2023)
Published in Insights into imaging (19.07.2023)
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Journal Article
Pre-surgical CT-assessment of neurogenic myositis ossificans of the hip and risk factors of recurrence: a series of 101 consecutive patients
Law-Ye, Bruno, Hangard, Chloé, Felter, Adrien, Safa, Dominique, Denormandie, Philippe, Genet, François, Carlier, Robert-Yves
Published in BMC musculoskeletal disorders (18.10.2016)
Published in BMC musculoskeletal disorders (18.10.2016)
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Journal Article
The FLNC Ala1186Val Variant Linked to Cytoplasmic Body Myopathy and Cardiomyopathy Causes Protein Instability
Onnée, Marion, Bénézit, Audrey, Bastu, Sultan, Nadaj-Pakleza, Aleksandra, Lannes, Béatrice, Ader, Flavie, Thèze, Corinne, Cintas, Pascal, Cances, Claude, Carlier, Robert-Yves, Metay, Corinne, Cossée, Mireille, Malfatti, Edoardo
Published in Biomedicines (30.01.2024)
Published in Biomedicines (30.01.2024)
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Journal Article