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1. A new score combining compound muscle action potential (CMAP) amplitudes and motor score is predictive of motor outcome after AVXS-101 (Onasemnogene Abeparvovec) SMA therapy

Author

Barrois, R., Barnerias, C., Deladrière, E., Leloup-Germa, V., Tervil, B., Audic, F., Boulay, C., Cances, C., Cintas, P., Davion, J.B., Espil-Taris, C., Manel, V., Pereon, Y., Piarroux, J., Quijano Roy, S., Vuillerot, C., Walther-Louvier, U., Desguerre, I., and Gitiaux, C.

Published
2023
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2. P120 Refining MRI pattern in sarcoglycanopathies: upper body pattern and new approaches to assess disease progression

Author

Comellas, L Costa, primary, Sánchez-Montáñez, Á, additional, Maggi, L., additional, Díaz-Manera, J., additional, D'Amico, A., additional, Pichiecchio, A., additional, Pegoraro, E., additional, Monforte, M., additional, Løkken, N., additional, Marini-Bettolo, C., additional, Vlodavets, D., additional, Walter, M., additional, Voermans, N., additional, Monges, S., additional, Claeys, K., additional, Bevilacqua, J., additional, Alonso, J., additional, Comi, G., additional, Bruno, C., additional, Leonardis, L., additional, Straub, V., additional, Quijano-Roy, S., additional, Carlier, R Yves, additional, Vissing, J., additional, Mercuri, E., additional, Bertini, E., additional, Gomez-Andres, D., additional, Munell, F., additional, and Tasca, G., additional

Published
2023
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7. OPALE: A patient registry for Laminopathies and Emerinopathies in France

Author

Yaou, R. Ben, Anselme, F., de Sande-Giovannoli, A., Campanna-Salort, E., Charron, P., Chikhaoui, C., Jeru, I., Labombarda, F., Leturcq, F., Quijano-Roy, S., Stalens, C., Richard, P., Vigouroux, C., Bonne, Gisèle, Wahbi, K., Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Endothélium, valvulopathies et insuffisance cardiaque (EnVI), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de ressources biologiques Tissus ADN Cellules [Hôpital de la Timone - APHM] (CRB TAC), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Maladies génétiques d'expression pédiatrique (U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université de Caen Normandie (UNICAEN), Normandie Université (NU), Service de biochimie et de génétique moléculaire [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Pédiatrie, Rééducation et Réanimation Neurorespiratoire, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Raymond Poincaré [AP-HP], Association française contre les myopathies (AFM-Téléthon), Etablissement Français du Sang [La Plaine Saint-Denis] (EFS), Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Saint-Antoine [AP-HP], Université Paris Descartes - Paris 5 (UPD5), Hôpital Cochin [AP-HP], Service de Pédiatrie, Hôpital Raymond Poincaré [AP-HP], and Belgian Institute for Space Aeronomy / Institut d'Aéronomie Spatiale de Belgique (BIRA-IASB)

Subjects
lamin A/C LMNA gene, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV]Life Sciences [q-bio], laminopathies, [SDV.MHEP.PHY]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

International audience

Published
2022

8. P.103 Onasemnogene abeparvovec (OA) treatment outcomes by patient weight at infusion: Initial findings from the RESTORE registry

Author

Servais, L., primary, Benguerba, K., additional, De Vivo, D., additional, Kirschner, J., additional, Mercuri, E., additional, Muntoni, F., additional, Proud, C., additional, Tizzano, E., additional, Quijano-Roy, S., additional, Saito, K., additional, Raju, D., additional, LaMarca, N., additional, Sun, R., additional, Anderson, F., additional, Faulkner, E., additional, and Finkel, R., additional

Published
2022
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9. P.51 Real-world experience after one year treating SMA children with risdiplam

Author

de la Banda, M. Gomez Garcia, primary, Garcia-Uzquiano, R., additional, Benezit, A., additional, Davion, J., additional, Dabaj, I., additional, Amthor, H., additional, Bouadi, A., additional, Spigarelli, M., additional, Bocassin, C., additional, Tirolien, S., additional, Villart, M., additional, Sonnet, L., additional, Grimaldi-Bensouda, L., additional, and Quijano-Roy, S., additional

Published
2022
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10. VP.70 OPALE: a patient registry for laminopathies and emerinopathies in France

Author

Yaou, R. Ben, primary, Anselme, F., additional, De Sande-Giovannoli, A., additional, Campanna-Salort, E., additional, Charron, P., additional, Chikhaoui, C., additional, Jeru, I., additional, Labombarda, F., additional, Leturcq, F., additional, Quijano-Roy, S., additional, Stalens, C., additional, Richard, P., additional, Vigouroux, C., additional, Bonne, G., additional, and Wahbi, K., additional

Published
2022
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11. P.104 Treatments and outcomes for patients with spinal muscular atrophy (SMA) type 2: Findings from RESTORE registry

Author

Servais, L., primary, Benguerba, K., additional, De Vivo, D., additional, Kirschner, J., additional, Muntoni, F., additional, Proud, C., additional, Tizzano, E., additional, Quijano-Roy, S., additional, Desguerre, I., additional, Saito, K., additional, Raju, D., additional, LaMarca, N., additional, Sun, R., additional, Anderson, F., additional, Faulkner, E., additional, and Finkel, R., additional

Published
2022
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14. 114P Epidemiology and therapeutic outcomes of patients with spinal muscular atrophy: results from a 12-year real-world study based on the French National Healthcare database (SNDS).

Author

Quijano-Roy, S., Bourget, I., Lot, A., Desguerre, I., Urtizberea, J., de Chasteigner, A., Leiba, G., Affinito, S., Panes, A., Denis, H., and Schmidt, A.

Subjects
*SPINAL muscular atrophy, *TREATMENT effectiveness, *MEDICAL protocols, *OVERALL survival, *DATABASES
Abstract

Considering the growing number of prescriptions of innovative therapies for Spinal Muscular Atrophy (SMA) (nusinersen [2017], onasemnogene abeparvovec [2019] and risdiplam [2020]) in France, this study aims at providing real-world data regarding the epidemiology, the management of therapeutic options, the patient journeys, the costs as well as the impact on overall survival. This retrospective observational cohort study was based on the French national healthcare database (SNDS). Patients with at least one hospital stay between 2011 and 2022 related to SMA (ICD10 codes G120, G121, G128 and G129) were studied. Clinical algorithms collected by the healthcare database were defined with experts to try to classify SMA patients into the three classical severity groups (SMA1, SMA2, SMA3). A total of 1472 patients were codified as SMA in the SNDS, including 725 incident cases between 2011 and 2022, with a mean incidence rate of 0.09 per 100 000 habitants. We identified 411 early severe patients, 175 moderate and 886 milder patients. Concerning the severe group, 92% were incident cases (N=377), consisting in 22 to 38 annual incident patients (estimated mean incidence rate of 0.05 per 100,000 inhabitants). At least one innovative therapy was identified in 352 incident patients (49% of the incident patients), where 116 were severe patients, 107 moderate and 129 mild. Probability of one-year survival was 91% for the severe patients, 100% for moderate, and 99% for milder patients in contrast with the one-year survival among non-treated patients (11% for severe vs 72% for moderate and 93% for mild). This real-world study using the SNDS confirms that SMA therapies strongly increased the survival of SMA patients, particularly in the most severe patients. This study provides an estimation of SMA1, SMA2 and SMA3 patients even if differentiating these patients proved to be difficult as there is a continuum in the disease progression. [ABSTRACT FROM AUTHOR]

Published
2024
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15. SMA CLINICAL DATA

Author

Quijano-Roy, S., primary, Gaume, M., additional, Saudeau, E., additional, de la Banda, M. Gomez-Garcia, additional, Azzi-Salameh, V., additional, Mbieleu, B., additional, Verollet, D., additional, Barnerias, C., additional, Benezit, A., additional, Dabaj, I., additional, Essid, A., additional, Doehring, I., additional, Amthor, H., additional, Oulhissane, A., additional, Carlier, R., additional, Desguerre, I., additional, Bergounioux, J., additional, Glorion, C., additional, and Miladi, L., additional

Published
2021
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16. CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES

Author

Labasse, C., primary, Brochier, G., additional, Rendu, J., additional, Bohm, J., additional, Monges, S., additional, Quijano-Roy, S., additional, Amthor, H., additional, Servais, L., additional, Madelaine, A., additional, Lacène, E., additional, Bui, M., additional, Coppens, S., additional, Biancalana, V., additional, Lubieniecki, F., additional, Laing, N., additional, Taratuto, A., additional, Buj-Bello, A., additional, Evangelista, T., additional, Laporte, J., additional, and Romero, N., additional

Published
2021
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17. SMA – OUTCOME MEASURES AND REGISTRIES

Author

de la Banda, M. Gomez Garcia, primary, Grimaldi-Bensouda, L., additional, Urtizberea, J., additional, Behin, A., additional, Vuillerot, C., additional, Saugier-Veber, P., additional, Audic, F., additional, Barnerias, C., additional, Cances, C., additional, Campana-Salort, E., additional, Espil, C., additional, Laforet, P., additional, Laugel, V., additional, Pereon, Y., additional, Sacconi, S., additional, Stojkovic, T., additional, Tard, C., additional, Chabrol, B., additional, Desguerre, I., additional, and Quijano-Roy, S., additional

Published
2021
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18. 1st FSHD European Trial Network workshop:Working towards trial readiness across Europe

Author

Voermans, N.C., primary, Vriens-Munoz Bravo, M., additional, Padberg, G.W., additional, Laforêt, P., additional, van Alfen, N., additional, Attarian, S., additional, Badrising, U.A., additional, Bugiardini, E., additional, González, P. Camano, additional, Carlier, R.Y., additional, Desguerre, I., additional, Diaz-Manera, J., additional, Dumonceaux, J., additional, van Engelen, B.G., additional, Evangelista, T., additional, Khosla, S., additional, de Munain, A. López, additional, van der Maarel, S.M., additional, Mejat, A., additional, Monforte, M., additional, Montagnese, F., additional, Mul, K., additional, Oflazer, P., additional, Porter, B., additional, Quijano-Roy, S., additional, Ricci, E., additional, Sacconi, S., additional, Sansone, V.A., additional, Schoser, B., additional, Statland, J., additional, Stumpe, E., additional, Tasca, G., additional, Tawil, R., additional, Turner, C., additional, and Vissing, J., additional

Published
2021
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19. MYO-MRI diagnostic protocols in genetic myopathies

Author

Chardon, J. Warman, Diaz-Manera, J., Tasca, G., Bonnemann, C.G., Gomez-Andres, D., Heerschap, A., Mercuri, E., Muntoni, F., Pichiecchio, A., Ricci, E., Walter, M.C., Hanna, M., Jungbluth, H., Morrow, J.M., Fernandez-Torron, R., Udd, B., Vissing, J., Yousry, T., Quijano-Roy, S., Straub, V., Carlier, R.Y., Group, M.-M.W., Centro de Investigación Biomédica en Red Enfermedades Respiratorias (CIBERES), National Institute of Neurological Disorders and Stroke [Bethesda] (NINDS), National Institutes of Health [Bethesda] (NIH), Fondazione 'Policlinico Universitario A. Gemelli' [Rome], Université de Versailles Saint-Quentin-en-Yvelines - UFR Sciences de la santé Simone Veil (UVSQ Santé), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Hôpital Raymond Poincaré [AP-HP], Institute of Genetic Medicine [Newcastle], Newcastle University [Newcastle], Université de Paris - UFR Médecine [Santé] (UP Médecine), and Université de Paris (UP)

Subjects
0301 basic medicine, [SDV]Life Sciences [q-bio], Disease, Bioinformatics, Inflammatory myopathy, Inherited myopathy, Limb girdle muscular dystrophy, 03 medical and health sciences, Magnetic resonance imaging, 0302 clinical medicine, Unknown Significance, Muscular Diseases, Whole-body MRI, Urological cancers Radboud Institute for Molecular Life Sciences [Radboudumc 15], medicine, Humans, Whole Body Imaging, Genetics (clinical), Congenital myopathy, medicine.diagnostic_test, business.industry, medicine.disease, Muscle anatomy, 3. Good health, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Neurology, Pediatrics, Perinatology and Child Health, Biomarker (medicine), Neurology (clinical), business, 030217 neurology & neurosurgery, Limb-girdle muscular dystrophy
Abstract

Item does not contain fulltext Whole-body magnetic resonance imaging has emerged as a useful imaging tool in diagnosing and characterizing the progression of myopathies and muscular dystrophies. Whole-body MRI indications and diagnostic efficacy are becoming better defined with the increasing number of cases, publications and discussions within multidisciplinary working groups. Advanced Whole-body MRI protocols are rapid, lower cost, and well-tolerated by patients. Accurate interpretation of muscle Whole-body MRI requires a detailed knowledge of muscle anatomy and differential pattern of involvement in muscle diseases. With the surge in recently identified novel genetic myopathies, Whole-body MRI will become increasingly useful for phenotypic validation of genetic variants of unknown significance. In addition, Whole-body MRI will be progressively used as a biomarker for disease progression and quantify response to therapy with the emergence of novel disease modifying treatments. This review outlines Whole-body MRI indications and updates refined protocols and provides a comprehensive overview of the diagnostic utility and suggested methodology of Whole-body MRI for pediatric and adult patients with muscle diseases.

Published
2019

21. Specific heterozygous frameshift variants in hnRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Author

Ambegaonkar G, Evangelista T, Maura Coughlin, O’Donovan Dg, Mark A. Tarnopolsky, Tobias B. Haack, Sarah Ennis, Foley Ar, Shatillo A, Zaharieva It, Lornage X, Sato A, Sandra Donkervoort, Nelson I, Grimmel M, Salviati L, Francesco Muntoni, Bello L, Lauren Brady, James Shorter, Iida A, Böhm J, Maja Steinlin, Ana Töpf, Ichizo Nishino, Péréon Y, Quijano-Roy S, Carsten G. Bönnemann, Ogasawara M, Hu Y, Alice Flynn Ford, Klein A, Kevin J. O'Donovan, Raymond Fl, Kuster A, Marcorelles P, Adnan Y. Manzur, Buchert R, Charlotte M. Fare, Hammans, Romero Nb, Munot P, Bertolin C, Upstill-Goddard R, Mercier S, Stojkovic T, Thomas E. Lloyd, Fleurence E, Lin Guo, Courtney E. French, Phadke R, Laporte J, Taylor Jp, Payam Mohassel, Straub, Elena Pegoraro, Hong Joo Kim, and Foulds N

Subjects
Genetics, medicine, Missense mutation, Muscular dystrophy, Amyotrophic lateral sclerosis, medicine.symptom, Biology, medicine.disease, Myopathy, Phenotype, Frameshift mutation, Frontotemporal dementia, Oculopharyngeal muscular dystrophy
Abstract

SummaryRNA-binding proteins (RBPs) are essential for post-transcriptional regulation and processing of RNAs. Pathogenic missense variants in RBPs underlie a spectrum of disease phenotypes, including amyotrophic lateral sclerosis, frontotemporal dementia, inclusion body myopathy, distal myopathy, and Paget’s disease of the bone. Here, we present ten independent families with a severe, progressive, early-onset muscular dystrophy, reminiscent of oculopharyngeal muscular dystrophy (OPMD), caused by heterozygous frameshift variants in the prion-like domain of hnRNPA2B1. We found that in contrast with the previously reported missense variants, the frameshift hnRNPA2B1 variants do not promote, but rather decelerate the fibrillization of the protein. Importantly, the frameshift variants harbor altered nuclear-localization sequences and exhibit reduced affinity for the nuclear-import receptor, Karyopherin-β2, which promotes their cytoplasmic accumulation in cells and in animal models that recapitulate the human pathology. Thus, we expand the phenotypes associated with hnRNPA2B1 to include a severe, early-onset disease reminiscent of OPMD, caused by a distinct class of frameshift variants that alter its nucleocytoplasmic transport dynamics.

Published
2021

23. International retrospective natural history study of LMNA-related congenital muscular dystrophy

Author

Ben Yaou, R, Yun, P, Dabaj, I, Norato, G, Donkervoort, S, Xiong, H, Nascimento, A, Maggi, L, Sarkozy, A, Monges, S, Bertoli, M, Komaki, H, Mayer, M, Mercuri, E, Zanoteli, E, Castiglioni, C, Marini-Bettolo, C, D'Amico, A, Deconinck, N, Desguerre, I, Erazo-Torricelli, R, Gurgel-Giannetti, J, Ishiyama, A, Kleinsteuber, KS, Lagrue, E, Laugel, V, Mercier, S, Messina, S, Politano, L, Ryan, MM, Sabouraud, P, Schara, U, Siciliano, G, Vercelli, L, Voit, T, Yoon, G, Alvarez, R, Muntoni, F, Pierson, TM, Gomez-Andres, D, Foley, AR, Quijano-Roy, S, Bonnemann, CG, Bonne, G, Ben Yaou, R, Yun, P, Dabaj, I, Norato, G, Donkervoort, S, Xiong, H, Nascimento, A, Maggi, L, Sarkozy, A, Monges, S, Bertoli, M, Komaki, H, Mayer, M, Mercuri, E, Zanoteli, E, Castiglioni, C, Marini-Bettolo, C, D'Amico, A, Deconinck, N, Desguerre, I, Erazo-Torricelli, R, Gurgel-Giannetti, J, Ishiyama, A, Kleinsteuber, KS, Lagrue, E, Laugel, V, Mercier, S, Messina, S, Politano, L, Ryan, MM, Sabouraud, P, Schara, U, Siciliano, G, Vercelli, L, Voit, T, Yoon, G, Alvarez, R, Muntoni, F, Pierson, TM, Gomez-Andres, D, Foley, AR, Quijano-Roy, S, Bonnemann, CG, and Bonne, G

Abstract

Muscular dystrophies due to heterozygous pathogenic variants in LMNA gene cover a broad spectrum of clinical presentations and severity with an age of onset ranging from the neonatal period to adulthood. The natural history of these conditions is not well defined, particularly in patients with congenital or early onset who arguably present with the highest disease burden. Thus the definition of natural history endpoints along with clinically revelant outcome measures is essential to establishing both clinical care planning and clinical trial readiness for this patient group. We designed a large international cross-sectional retrospective natural history study of patients with genetically proven muscle laminopathy who presented with symptoms before two years of age intending to identify and characterize an optimal clinical trial cohort with pertinent motor, cardiac and respiratory endpoints. Quantitative statistics were used to evaluate associations between LMNA variants and distinct clinical events. The study included 151 patients (median age at symptom onset 0.9 years, range: 0.0-2.0). Age of onset and age of death were significantly lower in patients who never acquired independent ambulation compared to patients who achieved independent ambulation. Most of the patients acquired independent ambulation (n = 101, 66.9%), and subsequently lost this ability (n = 86; 85%). The age of ambulation acquisition (median: 1.2 years, range: 0.8-4.0) and age of ambulation loss (median: 7 years, range: 1.2-38.0) were significantly associated with the age of the first respiratory interventions and the first cardiac symptoms. Respiratory and gastrointestinal interventions occurred during first decade while cardiac interventions occurred later. Genotype-phenotype analysis showed that the most common mutation, p.Arg249Trp (20%), was significantly associated with a more severe disease course. This retrospective natural history study of early onset LMNA-related muscular dystrophy confi

Published
2021

24. Whole exome sequencing identifies compound heterozygous missense variants in the LOXL4 gene: a novel candidate cause of contractural myopathy

Author

Cohen, E., Nelson, I., Gartioux, C., Beuvin, M., Mezdari, Z., Roth, F., Rabah BEN YAOU, Quijano-Roy, S., Stojkovic, T., Robert-Yves Carlier, Allamand, V., Gisèle Bonne, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Pédiatrie, Rééducation et Réanimation Neurorespiratoire, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Raymond Poincaré [AP-HP], Hôpital Raymond Poincaré [Garches], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service d'Imagerie Médicale [Raymond-Poincaré], Service de Pédiatrie, and Bonne, Gisèle

Subjects
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.MHEP.PHY]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], Rare neuromuscular diseases, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics
Published
2020

25. LES CORTICOIDES ORAUX, UNE OPTION THERAPEUTIQUE DANS LES LAMINOPATHIES CONGENITALES ?

Author

Gomez-Garcia de la Banda, M, Dabaj, I, Ben Yaou, R, Clarke, N, Nascimento, A, Benezit, A, Desguerre, I, Wahbi, K, Carlier, RY, Bonne, Gisèle, Quijano-Roy, S, Filière Nationale Des Maladies Rares Neuromusculaires, Filnemus, Hôpital Raymond Poincaré [Garches], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Necker - Enfants Malades [AP-HP], Université Paris Descartes - Paris 5 (UPD5), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Hôpital Cochin [AP-HP], Service de Pédiatrie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Raymond Poincaré [AP-HP], and Hôpital Raymond Poincaré [AP-HP]

Subjects
[SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Lamin A/C LMNA gene, laminopathies
Published
2019

26. Clinical correlations and long‐term follow‐up in 100 patients with sarcoglycanopathies

Author

Guimarães‐Costa, R., primary, Fernández‐Eulate, G., additional, Wahbi, K., additional, Leturcq, F., additional, Malfatti, E., additional, Behin, A., additional, Leonard‐Louis, S., additional, Desguerre, I., additional, Barnerias, C., additional, Nougues, M. C., additional, Isapof, A., additional, Estournet‐Mathiaud, B., additional, Quijano‐Roy, S., additional, Fayssoil, A., additional, Orlikowski, D., additional, Fauroux, B., additional, Richard, I., additional, Semplicini, C., additional, Romero, N. B., additional, Querin, G., additional, Eymard, B., additional, Laforêt, P., additional, and Stojkovic, T., additional

Published
2020
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27. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

Author

van de Kamp, J M, Betsalel, O T, Mercimek-Mahmutoglu, S, Abulhoul, L, Grünewald, S, Anselm, I, Azzouz, H, Bratkovic, D, de Brouwer, A, Hamel, B, Kleefstra, T, Yntema, H, Campistol, J, Vilaseca, M A, Cheillan, D, D’Hooghe, M, Diogo, L, Garcia, P, Valongo, C, Fonseca, M, Frints, S, Wilcken, B, von der Haar, S, Meijers-Heijboer, H E, Hofstede, F, Johnson, D, Kant, S G, Lion-Francois, L, Pitelet, G, Longo, N, Maat-Kievit, J A, Monteiro, J P, Munnich, A, Muntau, A C, Nassogne, M C, Osaka, H, Ounap, K, Pinard, J M, Quijano-Roy, S, Poggenburg, I, Poplawski, N, Abdul-Rahman, O, Ribes, A, Arias, A, Yaplito-Lee, J, Schulze, A, Schwartz, C E, Schwenger, S, Soares, G, Sznajer, Y, Valayannopoulos, V, Van Esch, H, Waltz, S, Wamelink, M M C, Pouwels, P J W, Errami, A, van der Knaap, M S, Jakobs, C, Mancini, G M, and Salomons, G S

Published
2013
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29. SMA – THERAPY

Author

Gaume, M., primary, Saudeau, E., additional, de la Banda, M. Gomez Garcia, additional, Azzi-Salameh, V., additional, Barnerias, C., additional, Benezit, A., additional, Dabaj, I., additional, Essid, A., additional, Gitiaux, C., additional, Haegy, I., additional, Mbieleu, B., additional, Sauvagnac, R., additional, Verollet, D., additional, Carlier, R., additional, Bergounioux, J., additional, Desguerre, I., additional, Topouchian, V., additional, Quijano-Roy, S., additional, Miladi, L., additional, and Glorion, C., additional

Published
2020
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30. MUSCLE IMAGING – MRI

Author

Comellas, L. Costa, primary, Sánchez-Montañez, Á., additional, Maggi, L., additional, Díaz-Manera, J., additional, Pichiecchio, A., additional, D'Amico, A., additional, Monforte, M., additional, Brisca, G., additional, Løkken, N., additional, Marini-Bettolo, C., additional, Vlodavets, D., additional, Walter, M.C., additional, Straub, V., additional, Quijano-Roy, S., additional, Yves-Carlier, R., additional, Vissing, J., additional, Mercuri, E., additional, Bertini, E., additional, Gómez-Andrés, D., additional, Munell, F., additional, and Tasca, G., additional

Published
2020
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31. CONGENITAL MYOPATHIES 1 – NEMALINE

Author

Lornage, X., primary, Amthor, H., additional, Quijano-Roy, S., additional, Carlier, R., additional, Monnier, N., additional, Romero, N., additional, Laporte, J., additional, and Böhm, J., additional

Published
2020
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32. SMA: REGISTRIES, BIOMARKERS & OUTCOME MEASURES

Author

Servais, L., primary, Day, J., additional, De Vivo, D., additional, Kirschner, J., additional, Mercuri, E., additional, Muntoni, F., additional, Shieh, P., additional, Tizzano, E., additional, Desguerre, I., additional, Quijano-Roy, S., additional, Saito, K., additional, Droege, M., additional, Dabbous, O., additional, Shah, A., additional, Anderson, F., additional, and Finkel, R., additional

Published
2020
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33. SMA: REGISTRIES, BIOMARKERS & OUTCOME MEASURES

Author

Gomez-Garcia de la Banda, M., primary, Grimaldi, L., additional, Urtizberea, J., additional, Behin, A., additional, Vuillerot, C., additional, Saugier-Veber, P., additional, Audic, F., additional, Barnerias, C., additional, Cances, C., additional, Campana-Salort, E., additional, Spil, C., additional, Laforet, P., additional, Laugel, V., additional, Pereon, Y., additional, Sacconi, S., additional, Stojkovic, T., additional, Tard, C., additional, Chabrol, B., additional, Desguerre, I., additional, and Quijano-Roy, S., additional

Published
2020
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34. OMICs AND AI APPROACHES FOR MUSCLE DISEASES

Author

Cohen, E., primary, Nelson, I., additional, Gartioux, C., additional, Beuvin, M., additional, Mezdari, Z., additional, Roth, F., additional, Yaou, R. Ben, additional, Quijano-Roy, S., additional, Stojkovic, T., additional, Carlier, R., additional, Bonne, G., additional, and Allamand, V., additional

Published
2020
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35. SMA – THERAPY

Author

Goff, L. Le, primary, Seferian, A., additional, Phelep, A., additional, Rippert, P., additional, Mathieu, M., additional, Cances, C., additional, de Lattre, C., additional, Durigneux, J., additional, Gousse, G., additional, Quijano-Roy, S., additional, Sarret, C., additional, Servais, L., additional, and Vuillerot, C., additional

Published
2020
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36. MYASTHENIA & RELATED DISORDERS

Author

de la Banda, M. Gomez Garcia, primary, Fahmi, N., additional, Sternberg, D., additional, Blondy, P., additional, Quijano-Roy, S., additional, and Malfatti, E., additional

Published
2020
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38. Sequencing the fibroblasts COL6A1-3 cDNAs versus gene panel genomic DNA in the diagnostic of COLVI related myopathies

Author

Stojkovic, T., de Becdelievre, A., Quijano-Roy, S., Jobic, V., Ledeuil, C., Gartioux, C., Allamand, V., Ferreiro, A., Behin, A., Laforet, P., Eymard, B., Richard, P., Metay, C., CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Service de Pédiatrie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Raymond Poincaré [AP-HP], Hôpital Raymond Poincaré [AP-HP], Unité de Biologie Fonctionnelle et Adaptative (BFA (UMR_8251 / U1133)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Handicap neuromusculaire : Physiopathologie, Biothérapie et Pharmacologies appliquées (END-ICAP), and Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
collagen VI, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Muscular dystrophy
Published
2019

39. Steroid treatment may change natural history in young children with LMNA mutations and dropped head syndrome

Author

Gomez Garcia de la Banda, M., Natera-de Benito, D., Dabaj, I., Ben Yaou, R., Ortez, C., Wahbi, K., Maldonado, S., Clarke, N., Carlier, R., Colomer, J., Bonne, Gisèle, Nascimento, A., Monges, M., Quijano-Roy, S., Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Universitat Politècnica de València (UPV), Université de Versailles Saint-Quentin-en-Yvelines - UFR Sciences de la santé Simone Veil (UVSQ Santé), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Hôpital Ambroise Paré [AP-HP], Amazonia Ocidental, Brazilian Agricultural Research Corporation (Embrapa), Service de Pédiatrie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Raymond Poincaré [AP-HP], and Hôpital Raymond Poincaré [AP-HP]

Subjects
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV]Life Sciences [q-bio], dystrophie musculaire, laminopathie
Published
2019

40. MYO-MRI diagnostic protocols in genetic myopathies

Author

Chardon, J. W., Diaz-Manera, J., Tasca, Giorgio, Bonnemann, C. G., Gomez-Andres, D., Heerschap, A., Mercuri, E., Muntoni, F., Pichiecchio, A., Ricci, Enzo, Walter, M. C., Hanna, M., Jungbluth, H., Morrow, J. M., Torron, R. F., Udd, B., Vissing, J., Yousry, T., Quijano-Roy, S., Straub, V., Carlier, R. Y., Tasca G., Ricci E. (ORCID:0000-0003-3092-3597), Chardon, J. W., Diaz-Manera, J., Tasca, Giorgio, Bonnemann, C. G., Gomez-Andres, D., Heerschap, A., Mercuri, E., Muntoni, F., Pichiecchio, A., Ricci, Enzo, Walter, M. C., Hanna, M., Jungbluth, H., Morrow, J. M., Torron, R. F., Udd, B., Vissing, J., Yousry, T., Quijano-Roy, S., Straub, V., Carlier, R. Y., Tasca G., and Ricci E. (ORCID:0000-0003-3092-3597)

Abstract

Whole-body magnetic resonance imaging has emerged as a useful imaging tool in diagnosing and characterizing the progression of myopathies and muscular dystrophies. Whole-body MRI indications and diagnostic efficacy are becoming better defined with the increasing number of cases, publications and discussions within multidisciplinary working groups. Advanced Whole-body MRI protocols are rapid, lower cost, and well-tolerated by patients. Accurate interpretation of muscle Whole-body MRI requires a detailed knowledge of muscle anatomy and differential pattern of involvement in muscle diseases. With the surge in recently identified novel genetic myopathies, Whole-body MRI will become increasingly useful for phenotypic validation of genetic variants of unknown significance. In addition, Whole-body MRI will be progressively used as a biomarker for disease progression and quantify response to therapy with the emergence of novel disease modifying treatments. This review outlines Whole-body MRI indications and updates refined protocols and provides a comprehensive overview of the diagnostic utility and suggested methodology of Whole-body MRI for pediatric and adult patients with muscle diseases.

Published
2019

41. P.113Phenotype, genetics and natural history in 131 SEPN1-related myopathy patients: towards clinical trial readiness

Author

Villar-Quiles, R., primary, von der Hagen, M., additional, Quijano-Roy, S., additional, Gonzalez, V., additional, Donkervoort, S., additional, de Visser, M., additional, Fidzianska, A., additional, Orlikowski, D., additional, Goemans, N., additional, Mayer, M., additional, Merlini, L., additional, Romero, N., additional, Fardeau, M., additional, Topaloğlu, H., additional, Métay, C., additional, Richard, P., additional, Estournet, B., additional, Bönnemann, C., additional, Schara, U., additional, and Ferreiro, A., additional

Published
2019
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42. P.256Steroid treatment may change natural history in young children with LMNA mutations and dropped head syndrome

Author

Gomez Garcia de la Banda, M., primary, Natera-De Benito, D., additional, Dabaj, I., additional, Ben Yaou, R., additional, Ortez, C., additional, Wahbi, K., additional, Maldonado, S., additional, Clarke, N., additional, Carlier, R., additional, Colomer, J., additional, Bonne, G., additional, Nascimento, A., additional, Monges, M., additional, and Quijano-Roy, S., additional

Published
2019
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44. DISORDERS OF THE EXTRACELLULAR MATRIX

Author

Stojkovic, T., primary, de Becdelievre, A., additional, Quijano-Roy, S., additional, Jobic, V., additional, Ledeuil, C., additional, Gartioux, C., additional, Allamand, V., additional, Ferreiro, A., additional, Behin, A., additional, Laforet, P., additional, Eymard, B., additional, Richard, P., additional, and Metay, C., additional

Published
2019
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45. Clinical correlations and long‐term follow‐up in 100 patients with sarcoglycanopathies.

Author

Guimarães‐Costa, R., Fernández‐Eulate, G., Wahbi, K., Leturcq, F., Malfatti, E., Behin, A., Leonard‐Louis, S., Desguerre, I., Barnerias, C., Nougues, M. C., Isapof, A., Estournet‐Mathiaud, B., Quijano‐Roy, S., Fayssoil, A., Orlikowski, D., Fauroux, B., Richard, I., Semplicini, C., Romero, N. B., and Querin, G.

Subjects
MUSCLE weakness, LIMB-girdle muscular dystrophy, DILATED cardiomyopathy, AGE of onset, PROTEIN expression
Abstract

Background and purpose: To describe a large series of patients with α, β, and γ sarcoglycanopathies (LGMD‐R3, R4, and R5) and study phenotypic correlations and disease progression. Methods: A multicentric retrospective study in four centers in the Paris area collecting neuromuscular, respiratory, cardiac, histologic, and genetic data. The primary outcome of progression was age of loss of ambulation (LoA); disease severity was established according to LoA before or after 18 years of age. Time‐to‐event analysis was performed. Results: One hundred patients (54 γ‐SG; 41 α‐SG; 5 β‐SG) from 80 families were included. The γ‐SG patients had earlier disease onset than α‐SG patients (5.5 vs. 8 years; p = 0.022) and β‐SG patients (24.4 years). Axial muscle weakness and joint contractures were frequent and exercise intolerance was observed. At mean follow‐up of 22.9 years, 65.3% of patients were wheelchair‐bound (66.7% α‐SG, 67.3% γ‐SG, 40% β‐SG). Dilated cardiomyopathy occurred in all sarcoglycanopathy subtypes, especially in γ‐SG patients (p = 0.01). Thirty patients were ventilated and six died. Absent sarcoglycan protein expression on muscle biopsy and younger age at onset were associated with earlier time to LoA (p = 0.021 and p = 0.002). Age at onset was an independent predictor of both severity and time to LoA (p = 0.0004 and p = 0.009). The α‐SG patients showed genetic heterogeneity, whereas >90% of γ‐SG patients carried the homozygous c.525delT frameshift variant. Five new mutations were identified. Conclusions: This large multicentric series delineates the clinical spectrum of patients with sarcoglycanopathies. Age at disease onset is an independent predictor of severity of disease and LoA, and should be taken into account in future clinical trials. [ABSTRACT FROM AUTHOR]

Published
2021
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46. Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics.

Author

Finkel, R, Mercuri, Eugenio Maria, Meyer, Oh, Simonds, Ak, Schroth, Mk, Graham, Rj, Kirschner, J, Iannaccone, St, Crawford, To, Woods, S, Muntoni, F, Wirth, B, Montes, J, Main, M, Mazzone, Elena Stacy, Vitale, M, Snyder, B, Quijano-Roy, S, Bertini, Enrico Silvio, Davis, Rh, Qian, Y, Sejerse, N., Mercuri E (ORCID:0000-0002-9851-5365), Mazzone ES, Bertini E, Finkel, R, Mercuri, Eugenio Maria, Meyer, Oh, Simonds, Ak, Schroth, Mk, Graham, Rj, Kirschner, J, Iannaccone, St, Crawford, To, Woods, S, Muntoni, F, Wirth, B, Montes, J, Main, M, Mazzone, Elena Stacy, Vitale, M, Snyder, B, Quijano-Roy, S, Bertini, Enrico Silvio, Davis, Rh, Qian, Y, Sejerse, N., Mercuri E (ORCID:0000-0002-9851-5365), Mazzone ES, and Bertini E

Abstract

This is the second half of a two-part document updating the standard of care recommendations for spinal muscular atrophy published in 2007. This part includes updated recommendations on pulmonary management and acute care issues, and topics that have emerged in the last few years such as other organ involvement in the severe forms of spinal muscular atrophy and the role of medications. Ethical issues and the choice of palliative versus supportive care are also addressed. These recommendations are becoming increasingly relevant given recent clinical trials and the prospect that commercially available therapies will likely change the survival and natural history of this disease.

Published
2018

48. 1st FSHD European Trial Network workshop:Working towards trial readiness across Europe

Author

van Alfen, N., Attarian, S., Badrising, U.A., Bugiardini, E., González, P. Camano, Carlier, R.Y., Desguerre, I., Diaz-Manera, J., Dumonceaux, J., van Engelen, B.G., Evangelista, T., Khosla, S., de Munain, A. López, van der Maarel, S.M., Mejat, A., Monforte, M., Montagnese, F., Mul, K., Oflazer, P., Porter, B., Quijano-Roy, S., Ricci, E., Sacconi, S., Sansone, V.A., Schoser, B., Statland, J., Stumpe, E., Tasca, G., Tawil, R., Turner, C., Vissing, J., Voermans, N.C., Vriens-Munoz Bravo, M., Padberg, G.W., and Laforêt, P.

Published
2021
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49. REGISTRIES AND CARE OF NEUROMUSCULAR DISORDERS

Author

Gaume, M., primary, Sauvagnac, R., additional, Quijano-Roy, S., additional, Azzi-Sallameh, V., additional, Dabaj, I., additional, Bénézit, A., additional, Mbieleu, B., additional, Verollet, D., additional, Essid, A., additional, Haegy, I., additional, Bergounioux, J., additional, Desguerre, I., additional, Miladi, L., additional, and Glorion, C., additional

Published
2018
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50. SMA THERAPIES I

Author

Gomez Garcia de la Banda, M., primary, Doré, B., additional, Bénézit, A., additional, Dabaj, I., additional, Mbieleu, B., additional, Pruvost, S., additional, Felter, A., additional, Thiry, T., additional, Tirolien, S., additional, Dupont, P., additional, Bocassin, C., additional, Essid, A., additional, Durigneux, L., additional, Cances, C., additional, Servais, L., additional, Haegy, I., additional, Bergounioux, J., additional, Desguerre, I., additional, Carlier, R., additional, and Quijano-Roy, S., additional

Published
2018
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