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Combination disease‐modifying treatment in spinal muscular atrophy: A proposed classification
Author / Creator:Proud, Crystal M. ; Mercuri, Eugenio ; Finkel, Richard S. ; Kirschner, Janbernd ; De Vivo, Darryl C. ; Muntoni, Francesco ; Saito, Kayoko ; Tizzano, Eduardo F. ; Desguerre, Isabelle ; Quijano‐Roy, Susana ; Benguerba, Kamal ; Raju, Dheeraj ; Faulkner, Eric ; Servais, Laurent
Publisher:Bognor Regis: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2023-11, Vol.10 (11), p.2155-2160
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Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study
Author / Creator:Audic, Frédérique ; de la Banda, Marta Gomez Garcia ; Bernoux, Delphine ; Ramirez-Garcia, Paola ; Durigneux, Julien ; Barnerias, Christine ; Isapof, Arnaud ; Cuisset, Jean-Marie ; Cances, Claude ; Richelme, Christian ; Vuillerot, Carole ; Laugel, Vincent ; Ropars, Juliette ; Altuzarra, Cécilia ; Espil-Taris, Caroline ; Walther-Louvier, Ulrike ; Sabouraud, Pascal ; Chouchane, Mondher ; Vanhulle, Catherine ; Trommsdorff, Valérie ; Pervillé, Anne ; Testard, Hervé ; Lagrue, Emmanuelle ; Sarret, Catherine ; Avice, Anne-Laude ; Beze-Beyrie, Pierre ; Pauly, Vanessa ; Quijano-Roy, Susana ; Chabrol, Brigitte ; Desguerre, Isabelle
Publisher:London: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2020-06, Vol.15 (1), p.1-148, Article 148
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ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan
Author / Creator:Gerin, Isabelle ; Ury, Benoît ; Breloy, Isabelle ; Bouchet-Seraphin, Céline ; Bolsée, Jennifer ; Halbout, Mathias ; Graff, Julie ; Vertommen, Didier ; Muccioli, Giulio G. ; Seta, Nathalie ; Cuisset, Jean-Marie ; Dabaj, Ivana ; Quijano-Roy, Susana ; Grahn, Ammi ; Van Schaftingen, Emile ; Bommer, Guido T.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2016-05, Vol.7 (1), p.11534-11534, Article 11534
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Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome
Author / Creator:Moghadaszadeh, Behzad ; Petit, Nathalie ; Jaillard, Céline ; Brockington, Martin ; Roy, Susana Quijano ; Merlini, Luciano ; Romero, Norma ; Estournet, Brigitte ; Desguerre, Isabelle ; Chaigne, Denys ; Muntoni, Francesco ; Topaloglu, Haluk ; Guicheney, Pascale
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2001-09, Vol.29 (1), p.17-18
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MRI in sarcoglycanopathies: a large international cohort study
Author / Creator: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
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of neurology, neurosurgery and psychiatry, 2018-01, Vol.89 (1), p.72-77
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Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment
Author / Creator:Desguerre, Isabelle ; Barrois, Rémi ; Audic, Frédérique ; Barnerias, Christine ; Chabrol, Brigitte ; Davion, Jean Baptiste ; Durigneux, Julien ; Espil-Taris, Caroline ; Gomez-Garcia de la Banda, Marta ; Guichard, Marine ; Isapof, Arnaud ; Nougues, Marie Christine ; Laugel, Vincent ; Le Goff, Laure ; Mercier, Sandra ; Pervillé, Anne ; Richelme, Christian ; Thibaud, Marie ; Sarret, Catherine ; Schweitzer, Cyril ; Testard, Hervé ; Trommsdorff, Valérie ; Vanhulle, Catherine ; Walther-Louvier, Ulrike ; Altuzarra, Cécilia ; Chouchane, Mondher ; Ropars, Juliette ; Quijano-Roy, Susana ; Cances, Claude
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-09, Vol.19 (1), p.344-11, Article 344
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Upper Limb Strength and Function Changes during a One-Year Follow-Up in Non-Ambulant Patients with Duchenne Muscular Dystrophy: An Observational Multicenter Trial
Author / Creator:Seferian, Andreea Mihaela ; Moraux, Amélie ; Annoussamy, Mélanie ; Canal, Aurélie ; Decostre, Valérie ; Diebate, Oumar ; Le Moing, Anne-Gaëlle ; Gidaro, Teresa ; Deconinck, Nicolas ; Van Parys, Frauke ; Vereecke, Wendy ; Wittevrongel, Sylvia ; Mayer, Michèle ; Maincent, Kim ; Desguerre, Isabelle ; Thémar-Noël, Christine ; Cuisset, Jean-Marie ; Tiffreau, Vincent ; Denis, Severine ; Jousten, Virginie ; Quijano-Roy, Susana ; Voit, Thomas ; Hogrel, Jean-Yves ; Servais, Laurent
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-02, Vol.10 (2), p.e0113999-e0113999
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Upper Limb Evaluation and One-Year Follow Up of Non-Ambulant Patients with Spinal Muscular Atrophy: An Observational Multicenter Trial
Author / Creator:Seferian, Andreea Mihaela ; Moraux, Amélie ; Canal, Aurélie ; Decostre, Valérie ; Diebate, Oumar ; Le Moing, Anne Gaëlle ; Gidaro, Teresa ; Deconinck, Nicolas ; Van Parys, Frauke ; Vereecke, Wendy ; Wittevrongel, Sylvia ; Annoussamy, Mélanie ; Mayer, Michèle ; Maincent, Kim ; Cuisset, Jean-Marie ; Tiffreau, Vincent ; Denis, Severine ; Jousten, Virginie ; Quijano-Roy, Susana ; Voit, Thomas ; Hogrel, Jean-Yves ; Servais, Laurent
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-04, Vol.10 (4), p.e0121799-e0121799
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Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen
Author / Creator:Le Goff, Laure ; Seferian, Andreea ; Phelep, Aurelie ; Rippert, Pascal ; Mathieu, Marie-Laure ; Cances, Claude ; de Lattre, Capucine ; Durigneux, Julien ; Gousse, Gaelle ; Vincent-Genod, Dominique ; Ribault, Shams ; Gomez Garcia de la Banda, Marta ; Quijano-Roy, Susana ; Sarret, Catherine ; Servais, Laurent ; Vuillerot, Carole
Publisher:Cham: Springer International Publishing
Journal title:Neurological sciences, 2023-01, Vol.44 (1), p.329-337
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Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies
Author / Creator:Labasse, Clémence ; Brochier, Guy ; Taratuto, Ana-Lia ; Cadot, Bruno ; Rendu, John ; Monges, Soledad ; Biancalana, Valérie ; Quijano-Roy, Susana ; Bui, Mai Thao ; Chanut, Anaïs ; Madelaine, Angéline ; Lacène, Emmanuelle ; Beuvin, Maud ; Amthor, Helge ; Servais, Laurent ; de Feraudy, Yvan ; Erro, Marcela ; Saccoliti, Maria ; Neto, Osorio Abath ; Fauré, Julien ; Lannes, Béatrice ; Laugel, Vincent ; Coppens, Sandra ; Lubieniecki, Fabiana ; Bello, Ana Buj ; Laing, Nigel ; Evangelista, Teresinha ; Laporte, Jocelyn ; Böhm, Johann ; Romero, Norma B.
Publisher:London: BioMed Central Ltd
Journal title:Acta neuropathologica communications, 2022-07, Vol.10 (1), p.1-101, Article 101
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ColVI myopathies: where do we stand, where do we go?
Author / Creator:Allamand, Valérie ; Briñas, Laura ; Richard, Pascale ; Stojkovic, Tanya ; Quijano-Roy, Susana ; Bonne, Gisèle
Publisher:England: BioMed Central Ltd
Journal title:Skeletal muscle, 2011-09, Vol.1 (1), p.30-30
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The value of respiratory muscle testing in a child with congenital muscular dystrophy
Author / Creator:Khirani, Sonia ; Dabaj, Ivana ; Amaddeo, Alessandro ; Ramirez, Adriana ; Quijano‐Roy, Susana ; Fauroux, Brigitte
Publisher:United States: BlackWell Publishing Ltd
Journal title:Respirology case reports, 2014-09, Vol.2 (3), p.95-98
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A cognitive and affective pattern in posterior fossa strokes in children: a case series
Author / Creator:KOSSOROTOFF, MANOELLE ; GONIN‐FLAMBOIS, CORALIE ; GITIAUX, CYRIL ; QUIJANO, SUSANA ; BODDAERT, NATHALIE ; BAHI‐BUISSON, NADIA ; BARNERIAS, CHRISTINE ; DULAC, OLIVIER ; BRUNELLE, FRANCIS ; DESGUERRE, ISABELLE
Publisher:Oxford, UK: Blackwell Publishing Ltd
Journal title:Developmental medicine and child neurology, 2010-07, Vol.52 (7), p.626-631
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Congenital muscular dystrophies: classification and diagnostic strategy
Author / Creator:François Rivier ; Pierre Meyer ; Ulrike Walther-Louvie ; Moïse Mercier ; Bernard Echenne ; Susana Quijano-Roy
Publisher:ABV-press
Journal title:Nervno-myshechnye bolezni, 2015-02 (1), p.6-20
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Management of congenital muscular dystrophies related to defects in the LMNA gene
Author / Creator:Quijano-Roy, Susana ; D'Amico, Adele
Publisher:BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2015-11, Vol.10 (S2), p.O24-O24, Article O24
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Respiratory muscle testing and diaphragm
Author / Creator:Khirani, Sonia ; Dabaj, Ivana ; Amaddeo, Alessandro ; Ramirez, Adriana ; Susana Quijano‐Roy ; Fauroux, Brigitte
Publisher:Hoboken: John Wiley & Sons, Inc
Journal title:Respirology case reports, 2014-09, Vol.2 (3), p.95-98
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MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort
Author / Creator:Bahout, Marie ; Severa, Gianmarco ; Kamoun, Emna ; Bouhour, Françoise ; Pegat, Antoine ; Toutain, Annick ; Lagrange, Emmeline ; Duval, Fanny ; Tard, Celine ; De la Cruz, Elisa ; Léonard Féasson ; Jacquin-Piques, Agnès ; Pascale, Richard ; Métay, Corinne ; Cavalli, Michele ; Romero, Norma Beatriz ; Evangelista, Teresinha ; Sole, Guilhem ; Carlier, Robert Yves ; Laforêt, Pascal ; Acket, Blandine ; Behin, Anthony ; Fernández-Eulate, Gorka ; Léonard-Louis, Sarah ; Quijano-Roy, Susana ; Pereon, Yann ; Salort-Campana, Emmanuelle ; Nadaj-Pakleza, Aleksandra ; Masingue, Marion ; Malfatti, Edoardo ; Stojkovic, Tanya ; Villar-Quiles, Rocío Nur
Publisher:London: BMJ Publishing Group LTD
Journal title:Journal of neurology, neurosurgery and psychiatry, 2025-05, p.jnnp-2024-334263
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Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, T...
Author / Creator:Tucker, Elena J. ; Rius, Rocio ; Jaillard, Sylvie ; Bell, Katrina ; Lamont, Phillipa J. ; Travessa, André ; Dupont, Juliette ; Sampaio, Lurdes ; Dulon, Jérôme ; Vuillaumier-Barrot, Sandrine ; Whalen, Sandra ; Isapof, Arnaud ; Stojkovic, Tanya ; Quijano-Roy, Susana ; Robevska, Gorjana ; van den Bergen, Jocelyn ; Hanna, Chloe ; Simpson, Andrea ; Ayers, Katie ; Thorburn, David R. ; Christodoulou, John ; Touraine, Philippe ; Sinclair, Andrew H.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2020-10, Vol.139 (10), p.1325-1343
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Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
Author / Creator:Schartner, Vanessa ; Romero, Norma B. ; Donkervoort, Sandra ; Treves, Susan ; Munot, Pinki ; Pierson, Tyler Mark ; Dabaj, Ivana ; Malfatti, Edoardo ; Zaharieva, Irina T. ; Zorzato, Francesco ; Abath Neto, Osorio ; Brochier, Guy ; Lornage, Xavière ; Eymard, Bruno ; Taratuto, Ana Lía ; Böhm, Johann ; Gonorazky, Hernan ; Ramos-Platt, Leigh ; Feng, Lucy ; Phadke, Rahul ; Bharucha-Goebel, Diana X. ; Sumner, Charlotte Jane ; Bui, Mai Thao ; Lacene, Emmanuelle ; Beuvin, Maud ; Labasse, Clémence ; Dondaine, Nicolas ; Schneider, Raphael ; Thompson, Julie ; Boland, Anne ; Deleuze, Jean-François ; Matthews, Emma ; Pakleza, Aleksandra Nadaj ; Sewry, Caroline A. ; Biancalana, Valérie ; Quijano-Roy, Susana ; Muntoni, Francesco ; Fardeau, Michel ; Bönnemann, Carsten G. ; Laporte, Jocelyn
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Acta neuropathologica, 2017-04, Vol.133 (4), p.517-533
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Perioperative complications after posterior spinal fusion versus minimally invasive fusionless surgery in neuromuscular scoliosis: a comparative study
Author / Creator:Gaume, Mathilde ; Njiki, Josiane ; Vaugier, Isabelle ; Orliaguet, Gilles ; Verollet, Delphine ; Glorion, Christophe ; Essid, Aben ; Mbieleu, Blaise ; Zini, Justine ; Fayssoile, Abdallah ; Quijano-Roy, Susana ; Desguerre, Isabelle ; Miladi, Lotfi ; Bergounioux, Jean
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Archives of orthopaedic and trauma surgery, 2023-08, Vol.143 (8), p.4605-4612
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Showing 1 to 20 of 37 results

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Combination disease‐modifying treatment in spinal muscular atrophy: A proposed classification

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Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study

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ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan

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Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome

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MRI in sarcoglycanopathies: a large international cohort study

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Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment

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Upper Limb Strength and Function Changes during a One-Year Follow-Up in Non-Ambulant Patients with Duchenne Muscular Dystrophy: An Observational Multicenter Trial

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Upper Limb Evaluation and One-Year Follow Up of Non-Ambulant Patients with Spinal Muscular Atrophy: An Observational Multicenter Trial

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Use of MFM-20 to monitor SMA types 1 and 2 patients treated with nusinersen

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Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies

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ColVI myopathies: where do we stand, where do we go?

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The value of respiratory muscle testing in a child with congenital muscular dystrophy

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A cognitive and affective pattern in posterior fossa strokes in children: a case series

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Congenital muscular dystrophies: classification and diagnostic strategy

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Management of congenital muscular dystrophies related to defects in the LMNA gene

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Respiratory muscle testing and diaphragm

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MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort

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Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, T...

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Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

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Perioperative complications after posterior spinal fusion versus minimally invasive fusionless surgery in neuromuscular scoliosis: a comparative study

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