Pesquisa | BVS Violência e Saúde

1.

A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia-Support for the role of LAP1 in NMJ function and disease.

Malfatti, Edoardo; Catchpool, Tara; Nouioua, Sonia; Sihem, Hellal; Fournier, Emmanuel; Carlier, Robert Y; Cardone, Nastasia; Davis, Mark R; Laing, Nigel G; Sternberg, Damien; Ravenscroft, Gianina.

Neuropathol Appl Neurobiol ; 48(1): e12743, 2022 02.

Artigo em Inglês | MEDLINE | ID: mdl-34164833

2.

ACTN2 mutations cause "Multiple structured Core Disease" (MsCD).

Lornage, Xavière; Romero, Norma B; Grosgogeat, Claire A; Malfatti, Edoardo; Donkervoort, Sandra; Marchetti, Michael M; Neuhaus, Sarah B; Foley, A Reghan; Labasse, Clémence; Schneider, Raphaël; Carlier, Robert Y; Chao, Katherine R; Medne, Livija; Deleuze, Jean-François; Orlikowski, David; Bönnemann, Carsten G; Gupta, Vandana A; Fardeau, Michel; Böhm, Johann; Laporte, Jocelyn.

Acta Neuropathol ; 137(3): 501-519, 2019 03.

Artigo em Inglês | MEDLINE | ID: mdl-30701273

3.

CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.

Carrera-García, Laura; Natera-de Benito, Daniel; Dieterich, Klaus; de la Banda, Marta G G; Felter, Adrien; Inarejos, Emili; Codina, Anna; Jou, Cristina; Roldan, Monica; Palau, Francesc; Hoenicka, Janet; Pijuan, Jordi; Ortez, Carlos; Expósito-Escudero, Jessica; Durand, Chantal; Nugues, Frédérique; Jimenez-Mallebrera, Cecilia; Colomer, Jaume; Carlier, Robert Y; Lochmüller, Hanns; Quijano-Roy, Susana; Nascimento, Andres.

Am J Med Genet A ; 179(6): 915-926, 2019 06.

Artigo em Inglês | MEDLINE | ID: mdl-30868735

4.

Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-up.

GóMez-Andrés, David; Díaz-Manera, Jordi; Alejaldre, Aida; Pulido-Valdeolivas, Irene; GonzáLez-Mera, Laura; Olivé, Montse; Vilchez, Juan José; De Munain, Adolfo LóPez; Paradas, Carmen; Muelas, Nuria; SáNchez-MontáÑez, Ángel; Alonso-Jimenez, Alicia; De la Banda, Marta Gómez García; Dabaj, Ivana; Bonne, Gisèle; Munell, Francina; Carlier, Robert Y; Quijano-Roy, Susana.

Muscle Nerve ; 58(6): 812-817, 2018 12.

Artigo em Inglês | MEDLINE | ID: mdl-30066418

5.

Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement.

Dabaj, Ivana; Carlier, Robert Y; Gómez-Andrés, David; Neto, Osório Abath; Bertini, Enrico; D'amico, Adele; Fattori, Fabiana; PéRéon, Yann; Castiglioni, Claudia; Rodillo, Eliana; Catteruccia, Michela; Guimarães, Júlio Brandão; Oliveira, Acary Souza Bulle; Reed, Umbertina Conti; Mesrob, Lilia; Lechner, Doris; Boland, Anne; Deleuze, Jean-François; Malfatti, Edoardo; Bonnemann, Carsten; Laporte, Jocelyn; Romero, Norma; Felter, Adrien; Quijano-Roy, Susana; Moreno, Cristiane Araújo Martins; Zanoteli, Edmar.

Muscle Nerve ; 58(2): 224-234, 2018 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-29624713

6.

Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern.

Hankiewicz, Karolina; Carlier, Robert Y; Lazaro, Leila; Linzoain, Javier; Barnerias, Christine; Gómez-Andrés, David; Avila-Smirnow, Daniela; Ferreiro, Ana; Estournet, Brigitte; Guicheney, Pascale; Germain, Dominique P; Richard, Pascale; Bulacio, Sebastian; Mompoint, Dominique; Quijano-Roy, Susana.

Muscle Nerve ; 52(5): 728-35, 2015 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-25808192

7.

The first French case of MATR3-related distal myopathy: Clinical, radiological and histopathological characterization.

Barp, A; Malfatti, Edoardo; Metay, Corinne; Jobic, Valérie; Carlier, Robert Y; Laforet, Pascal.

Rev Neurol (Paris) ; 174(10): 752-755, 2018 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-29628183

8.

Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant.

Dabaj, Ivana; Carlier, Robert Y; Dieterich, Klaus; Desguerre, Isabelle; Faure, Julien; Romero, Norma B; Trang, Wenting; Quijano-Roy, Susana; Germain, Dominique P.

Front Genet ; 13: 955041, 2022.

Artigo em Inglês | MEDLINE | ID: mdl-36968005

9.

Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort.

Quijano-Roy, Susana; Haberlova, Jana; Castiglioni, Claudia; Vissing, John; Munell, Francina; Rivier, François; Stojkovic, Tanya; Malfatti, Edoardo; Gómez García de la Banda, Marta; Tasca, Giorgio; Costa Comellas, Laura; Benezit, Audrey; Amthor, Helge; Dabaj, Ivana; Gontijo Camelo, Clara; Laforêt, Pascal; Rendu, John; Romero, Norma B; Cavassa, Eliana; Fattori, Fabiana; Beroud, Christophe; Zídková, Jana; Leboucq, Nicolas; Løkken, Nicoline; Sanchez-Montañez, Ángel; Ortega, Ximena; Kyncl, Martin; Metay, Corinne; Gómez-Andrés, David; Carlier, Robert Y.

J Neurol ; 269(5): 2414-2429, 2022 May.

Artigo em Inglês | MEDLINE | ID: mdl-34559299

10.

Postnatal Diagnostic Workup in Children With Arthrogryposis: A Series of 82 Patients.

Chareyre, Judith; Neuraz, Antoine; Badina, Alina; Barnerias, Christine; Hully, Marie; Kermorvant-Duchemin, Elsa; Leroy-Terquem, Elise; Carlier, Robert Y; Melki, Judith; Desguerre, Isabelle; Gitiaux, Cyril.

J Child Neurol ; 36(12): 1071-1077, 2021 10.

Artigo em Inglês | MEDLINE | ID: mdl-34410827

11.

Assessment of respiratory muscles and motor function in children with SMA treated by nusinersen.

Gómez-García de la Banda, Marta; Amaddeo, Alessandro; Khirani, Sonia; Pruvost, Sandrine; Barnerias, Christine; Dabaj, Ivana; Bénézit, Audrey; Durigneux, Julien; Carlier, Robert Y; Desguerre, Isabelle; Quijano-Roy, Susana; Fauroux, Brigitte.

Pediatr Pulmonol ; 56(1): 299-306, 2021 01.

Artigo em Inglês | MEDLINE | ID: mdl-33118682

12.

European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).

Barp, Andrea; Laforet, Pascal; Bello, Luca; Tasca, Giorgio; Vissing, John; Monforte, Mauro; Ricci, Enzo; Choumert, Ariane; Stojkovic, Tanya; Malfatti, Edoardo; Pegoraro, Elena; Semplicini, Claudio; Stramare, Roberto; Scheidegger, Olivier; Haberlova, Jana; Straub, Volker; Marini-Bettolo, Chiara; Løkken, Nicoline; Diaz-Manera, Jordi; Urtizberea, Jon A; Mercuri, Eugenio; Kyncl, Martin; Walter, Maggie C; Carlier, Robert Y.

J Neurol ; 267(1): 45-56, 2020 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-31555977

13.

CT and MRI of spinal neuroarthropathy.

Lacout, Alexis; Lebreton, Caroline; Mompoint, Dominique; Mokhtari, Samia; Vallée, Christian A; Carlier, Robert Y.

AJR Am J Roentgenol ; 193(6): W505-14, 2009 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-19933625

14.

Muscle magnetic resonance imaging: a new diagnostic tool with promising avenues in therapeutic trials.

Quijano-Roy, Susana; Carlier, Robert Y.

Neuropediatrics ; 45(5): 273-4, 2014 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-25184740

15.

MYO-MRI diagnostic protocols in genetic myopathies.

Warman Chardon, Jodi; Díaz-Manera, Jordi; Tasca, Giorgio; Bönnemann, Carsten G; Gómez-Andrés, David; Heerschap, Arend; Mercuri, Eugenio; Muntoni, Francesco; Pichiecchio, Anna; Ricci, Enzo; Walter, Maggie C; Hanna, Michael; Jungbluth, Heinz; Morrow, Jasper M; Fernández-Torrón, Roberto; Udd, Bjarne; Vissing, John; Yousry, Tarek; Quijano-Roy, Susana; Straub, Volker; Carlier, Robert Y.

Neuromuscul Disord ; 29(11): 827-841, 2019 11.

Artigo em Inglês | MEDLINE | ID: mdl-31727541

16.

Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.

Quijano-Roy, Susana; Martí-Carrera, Itxaso; Makri, Samira; Mayer, Michèle; Maugenre, Svetlana; Richard, Pascale; Berard, Carole; Viollet, Louis; Leheup, Bruno; Guicheney, Pascale; Pinard, Jean-Marc; Estournet, Brigitte; Carlier, Robert Y.

Brain Dev ; 28(4): 232-42, 2006 May.

Artigo em Inglês | MEDLINE | ID: mdl-16368217

17.

Qualitative and quantitative evaluation of skeletal muscle fatty degenerative changes using whole-body Dixon nuclear magnetic resonance imaging for an important reduction of the acquisition time.

Baudin, Pierre-Yves; Marty, Benjamin; Robert, Benjamin; Shukelovitch, Alexey; Carlier, Robert Y; Azzabou, Noura; Carlier, Pierre G.

Neuromuscul Disord ; 25(10): 758-63, 2015 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-26346495

18.

Whole body muscle MRI protocol: pattern recognition in early onset NM disorders.

Quijano-Roy, Susana; Avila-Smirnow, Daniela; Carlier, Robert Y.

Neuromuscul Disord ; 22 Suppl 2: S68-84, 2012 Oct 01.

Artigo em Inglês | MEDLINE | ID: mdl-22980770

19.

Muscle imaging in congenital myopathies.

Quijano-Roy, Susana; Carlier, Robert Y; Fischer, Dirk.

Semin Pediatr Neurol ; 18(4): 221-9, 2011 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-22172417

20.

Severe Charcot spinal arthropathy.

Dinh, Aurelien; Descatha, Alexis; Carlier, Robert Y.

Spine J ; 13(10): 1406-7, 2013 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-24383101

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