Author: "Gidaro, A" / Topic: neurology - Searchworks@Jio Institute Digital Library Search Results

1. Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6–48 months with Duchenne muscular dystrophy amenable to exon 51 skipping

Author: E. Mercuri, A.M. Seferian, L. Servais, N. Deconinck, H. Stevenson, X. Ni, W. Zhang, L. East, S. Yonren, F. Muntoni, Nicolas Deconinck, Rudy Van Coster, Arnaud Vanlander, Andreea Seferian, Silvana De Lucia, Teresa Gidaro, Laura Vanden Brande, Laurent Servais, Janbernd Kirschner, Sabine Borell, Eugenio Mercuri, Claudia Brogna, Marika Pane, Lavinia Fanelli, Giulia Norcia, Francesco Muntoni, Chiara Brusa, Mary Chesshyre, Kate Maresh, Jaqueline Pitchforth, Lucia Schottlaender, Mariacristina Scoto, Arpana Silwal, and Fedrica Trucco
Subjects: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
Published: 2023

2. ASC‐1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy

Author: Teresa Gidaro, Julien Durigneux, Emma Pierce-Hoffman, Fabio Catervi, Johann Böhm, Alan H. Beggs, Adnan Yuksel, Montse Olivé, Casie A. Genetti, Raul Juntas-Morales, Isabelle Duband-Goulet, Nicolas Deconinck, Norma B. Romero, Eva Cabet, Rocío-Nur Villar-Quiles, Asuman Koparir, Ana Ferreiro, Jocelyn Laporte, Xavière Lornage, Mireille Cossée, John Rendu, Sandra Coppens, Lara Servais, Unité de Biologie Fonctionnelle et Adaptative (BFA (UMR_8251 / U1133)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Département de neurologie [Montpellier], Hôpital Gui de Chauliac [Montpellier]-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université Montpellier 1 (UM1)-Université de Montpellier (UM), Boston Children's Hospital, Harvard Medical School [Boston] (HMS), Institut de Myologie, Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), Biruni University, Children's University Hospital Queen Fabiola [Bruxelles, Belgium], Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA, Partenaires INRAE, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de référence des Maladies Neuromusculaires AOC, Groupe d'imagerie neurofonctionnelle (GIN), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Children's Hospital and Harvard Medical School, Institut d'Investigació Biomèdica de Bellvitge [Barcelone] (IDIBELL), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [CHU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université de Montpellier (UM), 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), Institut des Maladies Neurodégénératives [Bordeaux] (IMN), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), and Mühendislik ve Doğa Bilimleri Fakültesi
Subjects: Male, TRANSCRIPTION COACTIVATOR, 0301 basic medicine, Pathology, animal diseases, [SDV]Life Sciences [q-bio], Cardiomyopathy, Muscle Proteins, medicine.disease_cause, SIGNAL COINTEGRATOR 1, 0302 clinical medicine, Fibroblasts -- physiology, Amyotrophic lateral sclerosis, Child, Cells, Cultured, Mutation, ABNORMALITIES, Cell Cycle -- physiology, Cell Cycle, PROLIFERATION, hemic and immune systems, Sciences bio-médicales et agricoles, Middle Aged, MUSCLE, Pedigree, 3. Good health, Phenotype, Neurology, Child, Preschool, Female, Transcription Factors -- genetics, medicine.symptom, tissues, D3, G1 phase, Adult, endocrine system, medicine.medical_specialty, Amino Acid Transport System y+, DISORDERS, Muscle Proteins -- genetics, Muscle, Skeletal -- pathology -- physiopathology, Article, 03 medical and health sciences, Muscular Diseases, Neurologie, medicine, Humans, Amino Acid Transport System y+ -- metabolism -- physiology, Muscle, Skeletal, Cell Cycle Protein, Myopathy, business.industry, Infant, Spinal muscular atrophy, Fibroblasts, medicine.disease, GENE, Congenital myopathy, eye diseases, MUSCULAR-DYSTROPHY, ADIPOGENESIS, 030104 developmental biology, Muscular Diseases -- genetics -- physiopathology, Neurology (clinical), business, 030217 neurology & neurosurgery, Transcription Factors
Abstract: Objective: Recently, the ASC-1 complex has been identified as a mechanistic link between amyotrophic lateral sclerosis and spinal muscular atrophy (SMA), and 3 mutations of the ASC-1 gene TRIP4 have been associated with SMA or congenital myopathy. Our goal was to define ASC-1 neuromuscular function and the phenotypical spectrum associated with TRIP4 mutations. Methods: Clinical, molecular, histological, and magnetic resonance imaging studies were made in 5 families with 7 novel TRIP4 mutations. Fluorescence activated cell sorting and Western blot were performed in patient-derived fibroblasts and muscles and in Trip4 knocked-down C2C12 cells. Results: All mutations caused ASC-1 protein depletion. The clinical phenotype was purely myopathic, ranging from lethal neonatal to mild ambulatory adult patients. It included early onset axial and proximal weakness, scoliosis, rigid spine, dysmorphic facies, cutaneous involvement, respiratory failure, and in the older cases, dilated cardiomyopathy. Muscle biopsies showed multiminicores, nemaline rods, cytoplasmic bodies, caps, central nuclei, rimmed fibers, and/or mild endomysial fibrosis. ASC-1 depletion in C2C12 and in patient-derived fibroblasts and muscles caused accelerated proliferation, altered expression of cell cycle proteins, and/or shortening of the G0/G1 cell cycle phase leading to cell size reduction. Interpretation: Our results expand the phenotypical and molecular spectrum of TRIP4-associated disease to include mild adult forms with or without cardiomyopathy, associate ASC-1 depletion with isolated primary muscle involvement, and establish TRIP4 as a causative gene for several congenital muscle diseases, including nemaline, core, centronuclear, and cytoplasmic-body myopathies. They also identify ASC-1 as a novel cell cycle regulator with a key role in cell proliferation, and underline transcriptional coregulation defects as a novel pathophysiological mechanism. ANN NEUROL 2020;87:217–232., SCOPUS: ar.j, info:eu-repo/semantics/published
Published: 2019

3. P.110 JEWELFISH: 24-month safety and pharmacodynamic data in non-treatment-naïve patients with spinal muscular atrophy (SMA)

Author: C. Chiriboga, C. Bruno, T. Duong, D. Fischer, J. Kirschner, M. Scoto, E. Mercuri, M. Gerber, K. Gorni, H. Kletzl, I. Carruthers, C. Martin, T. Gidaro, and F. Muntoni
Subjects: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
Published: 2022

4. Quantitative nuclear magnetic resonance imaging detects subclinical changes over 1 year in skeletal muscle of GNE myopathy

Author: Harmen Reyngoudt, Anthony Behin, Ericky C. A. Araujo, Benjamin Marty, Ferial Toumi, M. Annoussamy, Jean-Yves Hogrel, Melanie Villeret, Laurent Servais, Teresa Gidaro, P. Baudin, Julien Le Louër, and Pierre G. Carlier
Subjects: Adult, Male, medicine.medical_specialty, Neurology, Thigh, 03 medical and health sciences, 0302 clinical medicine, Nuclear magnetic resonance, Forearm, medicine, Humans, 030212 general & internal medicine, Muscle, Skeletal, Neuroradiology, Subclinical infection, Surrogate endpoint, business.industry, Skeletal muscle, Middle Aged, Magnetic Resonance Imaging, Distal Myopathies, medicine.anatomical_structure, Disease Progression, Upper limb, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Follow-Up Studies
Abstract: BACKGROUND AND OBJECTIVE: To identify the most responsive and sensitive clinical outcome measures in GNE myopathy. METHODS: ClinBio-GNE is a natural history study in GNE myopathy. Patients were assessed prospectively by clinical, functional and quantitative nuclear magnetic resonance imaging (qNMRI) evaluations. Strength and functional tests included Myogrip, Myopinch, MoviPlate and Brooke assessments for upper limb and the 6-min walk distance for lower limb. qNMRI was performed for determining the degree of fatty infiltration and trophicity in leg, thigh, forearm and hand skeletal muscles. Ten GNE myopathy patients were included. Three patients were non-ambulant. Age and gender-matched healthy subjects were used as controls. RESULTS: Fatty infiltration and contractile cross-sectional area changed inversely and significantly in lower distal limbs and in proximal lower and distal upper limbs over 1 year. qNMRI indices and functional assessment results were strongly correlated. CONCLUSIONS: Even in a limited number of patients, qNMRI could detect a significant change over a 1-year period in GNE myopathy, which suggests that qNMRI could constitute a surrogate endpoint in this slowly progressive disease. Quantitative NMRI outcome measures can monitor intramuscular fat accumulation with high responsiveness. Longer follow-up should improve our understanding of GNE myopathy evolution and also lead to the identification of non-invasive outcome measures with the highest discriminant power for upcoming clinical trials.
Published: 2019

5. Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8)

Author: John Rendu, Julien Fauré, Laurent Pelletier, Pierre G. Carlier, Laurent Servais, Norma B. Romero, Andreea Mihaela Seferian, Véronique Forin, Edoardo Malfatti, Teresa Gidaro, Jessica Taytard, E. Gargaun, C Bosson, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de référence des maladies rares neuromusculaires, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de recherche en myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Unit of Neuromuscular Morphology [CHU Pitié-Salpêtrière], Institut de Myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-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)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-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)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Centre de Recherche Saint-Antoine (UMRS893), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Pneumologie pédiatrique [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de réhabilitation pédiatrique [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), NMR Laboratory, Université Pierre et Marie Curie - Paris 6 (UPMC)-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)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-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)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Institut de Myologie (U153 Inserm - IM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Centre de référence des maladies rares neuromusculaires [CHU Pitié-Salpétriêre], and HAL-UPMC, Gestionnaire
Subjects: 0301 basic medicine, Pathology, medicine.medical_specialty, Muscle Proteins, KLHL40, Biology, medicine.disease_cause, Myopathies, Nemaline, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Nemaline myopathy, medicine, Humans, Nemaline bodies, Child, Muscle, Skeletal, Genetics (clinical), Sanger sequencing, Mutation, Muscle biopsy, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, medicine.diagnostic_test, Genetic heterogeneity, medicine.disease, Hypotonia, 3. Good health, 030104 developmental biology, Phenotype, Neurology, Pediatrics, Perinatology and Child Health, symbols, Female, Neurology (clinical), Presentation (obstetrics), medicine.symptom, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: International audience; Nemaline myopathies are clinically and genetically heterogeneous muscle diseases characterized by the presence of nemaline bodies (rods) in muscle fibers. Mutations in the KLHL40 (kelch-like family member 40) gene (NEM 8) are common cause of severe/lethal nemaline myopathy. We report an 8-year-old girl born to consanguineous Moroccan parents, who presented with hypotonia and poor sucking at birth, delayed motor development, and further mild difficulties in walking and fatigability. A muscle biopsy revealed the presence of nemaline bodies. KLHL40 gene Sanger sequencing disclosed a never before reported pathogenic homozygous mutation which resulted in absent KLHL40 protein expression in the muscle. This further expands the phenotypical spectrum of KLHL40 related nemaline myopathy.
Published: 2020

6. Targeted exomes reveal simultaneous MFN2 and GDAP1 mutations in a severe Charcot‐Marie‐Tooth disease type 2 phenotype

Author: Ruxandra Cardas, Teresa Gidaro, A. Guiochon-Mantel, C. Anghelescu, Laurent Servais, P. Aubourg, and Bruno Francou
Subjects: 0301 basic medicine, 030102 biochemistry & molecular biology, business.industry, MFN2, Bioinformatics, Phenotype, 03 medical and health sciences, Tooth disease, 0302 clinical medicine, Neurology, Medicine, Neurology (clinical), business, Exome, 030217 neurology & neurosurgery, Exome sequencing
Published: 2020

7. DMD and West syndrome

Author: N. Butoianu, Teresa Gidaro, E. Gargaun, Svetlana Gataullina, Ruxandra Cardas, Laurent Servais, Thierry Bienvenu, Dana Craiu, Juliette Nectoux, Catrinel Iliescu, and Andreea Mihaela Seferian
Subjects: musculoskeletal diseases, Central Nervous System, Male, Pediatrics, medicine.medical_specialty, Duchenne muscular dystrophy, Dystrophin, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Seizures, 030225 pediatrics, medicine, Humans, Protein Isoforms, Muscular dystrophy, Genetics (clinical), biology, Seizure types, business.industry, Infant, West Syndrome, medicine.disease, Hypsarrhythmia, Muscular Dystrophy, Duchenne, Epileptic spasms, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation, biology.protein, Neurology (clinical), medicine.symptom, business, Spasms, Infantile, 030217 neurology & neurosurgery
Abstract: Duchenne Muscular Dystrophy (DMD) is the most frequent muscular dystrophy in childhood, with a worldwide incidence of one in 5000 live male births. It is due to mutations in the dystrophin gene leading to absence of full-length dystrophin protein. Central nervous system involvement is well-known in Duchenne Muscular Dystrophy. The multiple dystrophin isoforms expressed in brain have important roles in cerebral development and functioning. The association of Duchenne Muscular Dystrophy with seizures has been reported, and there is a higher prevalence of epilepsy in Duchenne Muscular Dystrophy patients (between 6.3% and 12.3%) than in the general pediatric population (0.5–1%). Duchenne Muscular Dystrophy patients may present with focal seizures, generalized tonic-clonic seizures or absences. We report on two boys in whom Duchenne Muscular Dystrophy is associated with epileptic spasms and hypsarrhythmia that fulfil the criteria for West syndrome, thus extending the spectrum of seizure types described in Duchenne Muscular Dystrophy patients.
Published: 2020

8. Normalized grip strength is a sensitive outcome measure through all stages of Duchenne muscular dystrophy

Author: Volker Straub, Valeria Ricotti, Jean-Yves Hogrel, Laurent Servais, Thomas Voit, Andreea Mihaela Seferian, Imelda J. M. de Groot, Marie De Antonio, Teresa Gidaro, Valérie Decostre, Erik H. Niks, Francesco Muntoni, Isabelle Ledoux, Institut de Myologie, Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), Leiden University Medical Center (LUMC), Radboud University Medical Center [Nijmegen], University College of London [London] (UCL), Centre Hospitalier Universitaire de Liège (CHU-Liège), University of Oxford [Oxford], 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), Universiteit Leiden, University of Oxford, and Gestionnaire, Hal Sorbonne Université
Subjects: Duchenne muscular dystrophy, Adult, Male, medicine.medical_specialty, Adolescent, Normal values, Muscle Strength Dynamometer, Outcome measures, 03 medical and health sciences, Grip strength, Young Adult, 0302 clinical medicine, Physical medicine and rehabilitation, [SPI.MECA.BIOM] Engineering Sciences [physics]/Mechanics [physics.med-ph]/Biomechanics [physics.med-ph], Outcome Assessment, Health Care, medicine, Humans, In patient, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], 030212 general & internal medicine, Child, Glucocorticoids, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Hand Strength, business.industry, [SPI.MECA.BIOM]Engineering Sciences [physics]/Mechanics [physics.med-ph]/Biomechanics [physics.med-ph], Reproducibility of Results, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Muscular Dystrophy, Duchenne, Neurology, Child, Preschool, Cohort, Ambulatory, Disease Progression, Ceiling effect, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), business, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Follow-Up Studies
Abstract: Contains fulltext : 220816.pdf (Publisher’s version ) (Closed access) OBJECTIVE: The main aim was to explore the changes in hand-grip strength in patients with Duchenne muscular dystrophy (DMD) aged 5-29 years. Secondary aims were to test the effect of mutation, ambulatory status and glucocorticoid use on grip strength and its changes over time and to compute the number of subjects needed for a clinical trial to stabilize grip strength. METHODS: The analysis was performed on data collected during five international natural history studies on a cohort of DMD patients. Two hundred and two patients with genetically proven DMD were pooled from five different natural history studies. Excepting 13 patients with only one visit, the mean duration of follow-up was 2.2 +/- 1.6 years. A total of 977 measurement points were collected. Grip strength was measured on the dominant side with a high precision dynamometer. The analysis was performed using absolute values and normalized values expressed in percentage of predicted values for age. RESULTS: For absolute values, grip strength typically increased in ambulatory boys and decreased in non-ambulatory patients. However, when normalized, grip strength was already reduced at age 5 years and thereafter continued to fall away from normal values. The weaker the patients, the less strength they are prone to lose over again. INTERPRETATION: Grip strength constitutes a sensitive and continuous outcome measure that can be used across all stages of DMD. Its measurement is easy to standardized, can be used in ambulatory and non-ambulatory patients and does not present any floor or ceiling effect. It is thus attractive as an outcome measure in therapeutic trials.
Published: 2020

9. CLINICAL RESEARCH

Author: C. Lilien, H. Reyngoudt, A. Seferian, T. Gidaro, M. Annoussamy, V. Chê, V. Decostre, I. Ledoux, J. Le Louër, E. Guemas, F. Muntoni, J. Hogrel, P. Carlier, and L. Servais
Subjects: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
Published: 2021

10. P.200 Feasibility and baseline values of continuous movement measurement in patients with centronuclear myopathy by using ActiMyo®

Author: J.Y. Hogrel, H. Landy, Ulrike Schara, V. Chê, Teresa Gidaro, Alessandra D'Amico, Andreea Mihaela Seferian, C. Lilien, L. Servais, M. Annoussamy, Jonathan Baets, Chris Freitag, M. Grelet, Anna Buj-Bello, A. Hernandez, Dominique Duchene, C. de Lattre, Anthony Behin, A. Grangé, and E. Gasnier
Subjects: Baseline values, medicine.medical_specialty, business.industry, Movement measurement, Medizin, medicine.disease, Neurology, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Cardiology, In patient, Neurology (clinical), Centronuclear myopathy, business, Genetics (clinical)
Published: 2019

11. Treatment with Ataluren for Duchene Muscular Dystrophy

Author: Mercuri, E, Muntoni, F, Osorio, An, Tulinius, M, Buccella, F, Morgenroth, Lp, Gordish-Dressman, H, Jiang, J, Trifillis, P, Zhu, J, Kristensen, A, Santos, Cl, Henricson, Ek, Mcdonald, Cm, Desguerre, I, Bernert, G, Gosk-Tomek, M, Ille, A, Kellersmann, A, Weiss, S, Pilshofer, V, Balintovà, Z, Danhofer, P, Fabulovà, P, Jurıkovà, L, Fuchsovà, P, Haberlovà, J, Laffargue, F, Sarret, C, Pontier, B, Bellance, R, Sarrazin, E, Sabouraud, P, Magot, A, Mercier, S, Péréon, Y, Cuisset, J-M, Coopman-Degryse, S, Enaud, E, Jacquemont, M-L, Perville, A, Renouil, M, Trommsdorff, V, Verheulpen, D, Fontaine-Carbonnel, S, Vuillerot, C, Peudenier, S, Ropars, J, Audic, F, Chabrol, B, Chabrier, S, Gousse, G, Lagrue, E, Aragon, K, Barnerias, C, Brande, Lv, De Lucia, S, Gidaro, T, Seferian, A, Servais, L, Laugel, V, Espil-Taris, C, Mecili, H, Raffo, E, Ragot-Mandry, S, Borrell, S, Kirschner, J, Gangfuss, A, Henrich, M, Kolbel, H, Schara, U, Sponemann, N, Temme, E, Seeger, J, Hirsch, A, Denecke, J, Johannsen, J, Neu, A, Osinski, D, Rugner, S, Schussler, S, Trollmann, R, Kaindl, A, Schneider, Jb, Stoltenburg, C, Weiss, C, Schreiber, G, Hahn, A, Grzybowski, M, Pavlidou, E, Pavlou, E, Dobner, S, Liptai, Z, Dor, T, Brogna, C, Catteruccia, M, D’Amico, A, Pane, E, Bello, L, Pegoraro, E, Semplicini, C, Albamonte, E, Baranello, G, Comi, G, Govoni, A, Lerario, A, Magri, F, Masson, R, Mauri, E, Sansone, V, Brusa, C, Mongini, T, Ricci, F, Vacchetti, M, Bruno, C, Paniucci, C, Pedemonte, M, Giannotta, M, Pini, A, Messina, S, Sframeli, M, Vita, Gl, Vita, G, Ruggiero, L, Santoro, L, Craiu, D, Motoescu, C, Sandu, C, Teleanu, R, Vasile, D, Hughes, I, Childs, A-M, Alhaswani, Z, Roper, H, Parasuraman, D, Degoede, C, Gowda, V, Manzur, A, Munot, P, Sarkokzy, A, Charlesworth, C, Lemon, J, Turner, L, Spinty, S, Dubrovsky, A, Kornberg, A, Ryan, M, Webster, R, Biggar, Wd, Mcadam, Lc, Mah, Jh, Kolski, H, Vishwanathan, V, Chidambaranathan, S, Nevo, Y, Gorni, K, Carlo, J, Abresch, Rt, Joyce, Nc, Cnaan, A, Leshner, R, Tesi-Rocha, C, Thangarajh, M, Duong, T, Clemens, Pr, Abdel-Hamid, H, Connolly, Am, Pestronk, A, Teasley, J, Harper, A, Bertorini, Te, Kuntz, N, Driscoll, S, Day, Jw, Karachunski, P, and Lotze, T.
Subjects: safety, medicine.medical_specialty, nonsense mutation Duchenne muscular dystrophy, Duchenne muscular dystrophy, Neurosurgery, STRIDE, effectiveness, Duchenne Muscular Dystrophy, Pediatrics, Dystrophin, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Child Development, STRIDE Registry, International database, Internal medicine, medicine, Humans, In patient, Registries, Child, 030304 developmental biology, Pediatric, 0303 health sciences, Brain Diseases, Oxadiazoles, business.industry, Health Policy, Disease progression, Infant, ataluren, medicine.disease, Ataluren, Muscular Dystrophy, Duchenne, Treatment Outcome, chemistry, Neurology, Muscle Disorders, Codon, Nonsense, Neuromuscular, Propensity score matching, dystrophin, Nervous System Diseases, business, 030217 neurology & neurosurgery, Natural history study, Research Article
Abstract: Aim: Strategic Targeting of Registries and International Database of Excellence (STRIDE) is an ongoing, multicenter registry providing real-world evidence regarding ataluren use in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD). We examined the effectiveness of ataluren + standard of care (SoC) in the registry versus SoC alone in the Cooperative International Neuromuscular Research Group (CINRG) Duchenne Natural History Study (DNHS), DMD genotype–phenotype/–ataluren benefit correlations and ataluren safety. Patients & methods: Propensity score matching was performed to identify STRIDE and CINRG DNHS patients who were comparable in established disease progression predictors (registry cut-off date, 9 July 2018). Results & conclusion: Kaplan–Meier analyses demonstrated that ataluren + SoC significantly delayed age at loss of ambulation and age at worsening performance in timed function tests versus SoC alone (p ≤ 0.05). There were no DMD genotype–phenotype/ataluren benefit correlations. Ataluren was well tolerated. These results indicate that ataluren + SoC delays functional milestones of DMD progression in patients with nmDMD in routine clinical practice. ClinicalTrials.gov identifier: NCT02369731. ClinicalTrials.gov identifier: NCT02369731.
Published: 2020

12. Characterization of pulmonary function in 10–18 year old patients with Duchenne muscular dystrophy

Author: Ulrike Schara, Diana Castro, T. Gidaro, S. Lutz, Ksenija Gorni, Janbernd Kirschner, Antonella Taglia, V. Doppler, F. Knipp, Christian Rummey, Jan J.G.M. Verschuuren, Thomas Meier, Gihan Tennekoon, J.J. Vílchez Padilla, E. Falcier, Luisa Politano, Craig M. McDonald, Chiara S. M. Straathof, S. Borell, S. Coopman, Matthew J. Will, Pierre-Yves Jeannet, Nathalie Goemans, Paolo Spagnolo, Jean-Marie Cuisset, Carsten G. Bönnemann, R.C. Richardson, G. Bernert, Thomas Sejersen, N. Muelas Gómez, Maria Grazia D'Angelo, Erika Brighina, Thomas Voit, S. Gandossini, Mika Leinonen, Susan T. Iannaccone, Oscar H. Mayer, Gunnar M. Buyse, Clemens Bloetzer, M. van den Hauwe, Susan D. Apkon, Richard S. Finkel, G. Buyse, P. D’Ambrosio, Erik K Henricson, Nanette C. Joyce, M. Hovmöller, Van den Hauwe, M, Meier, Thoma, Rummey, Christian, Leinonen, Mika, Spagnolo, Paolo, Mayer, Oscar H., Buyse, Gunnar M., Bernert, G., Knipp, F., Buyse, G. M., Goemans, N., Van den Hauwe, M., Voit, T., Doppler, V., Gidaro, T., Cuisset, J. -. M., Coopman, S., Schara, U., Lutz, S., Kirschner, J., Borell, S., Will, M., D'Angelo, M. G., Brighina, E., Gandossini, S., Gorni, K., Falcier, E., Politano, L., D'Ambrosio, P., Taglia, A., Verschuuren, J. J. G. M., Straathof, C. S. M., VÃlchez Padilla, J. J., Muelas GÃ³mez, N., Sejersen, T., Hovmã¶ller, M., Jeannet, P. -. Y., Bloetzer, C., Iannaccone, S., Castro, D., Tennekoon, G., Finkel, R., Bã¶nnemann, C., Mcdonald, C., Henricson, E., Joyce, N., Apkon, S., and Richardson, R. C.
Subjects: Duchenne muscular dystrophy, medicine.medical_specialty, Vital capacity, Adolescent, peak expiratory flow, Respiratory Tract Diseases, Medizin, Clinical Neurology, Pulmonary insufficiency, Placebo group, Pediatrics, Pulmonary function testing, 03 medical and health sciences, FEV1/FVC ratio, 0302 clinical medicine, forced vital capacity, Internal medicine, medicine, Humans, In patient, Genetics(clinical), Pediatrics, Perinatology, and Child Health, Longitudinal Studies, Muscular Dystrophy, Child, Genetics (clinical), Old patients, business.industry, pulmonary function, respiratory system, Perinatology and Child Health, medicine.disease, Duchenne, Cross-Sectional Studies, Muscular Dystrophy, Duchenne, Respiratory Function Tests, Pediatrics, Perinatology and Child Health, Neurology, Neurology (clinical), Surgery, respiratory tract diseases, 030228 respiratory system, Cardiology, business, 030217 neurology & neurosurgery, circulatory and respiratory physiology
Abstract: Pulmonary function loss in patients with Duchenne muscular dystrophy (DMD) is progressive and leads to pulmonary insufficiency. The purpose of this study in 10-18 year old patients with DMD is the assessment of the inter-correlation between pulmonary function tests (PFTs), their reliability and the association with the general disease stage measured by the Brooke score. Dynamic PFTs (peak expiratory flow [PEF], forced vital capacity [FVC], forced expiratory volume in one second [FEV1]) and maximum static airway pressures (MIP, MEP) were prospectively collected from 64 DMD patients enrolled in the DELOS trial (ClinicalTrials.gov, number NCT01027884). Baseline PEF percent predicted (PEF%p) was
Published: 2017

13. DMD – BIOMARKERS & OUTCOME MEASURES

Author: J. Hogrel, V. Decostre, I. Ledoux, M. de Antonio, E. Niks, I. de Groot, V. Straub, F. Muntoni, V. Ricotti, T. Voit, A. Seferian, T. Gidaro, and L. Servais
Subjects: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
Published: 2020

14. Congenital Myopathies (CNM)

Author: M. Annoussamy, C. Lilien, T. Gidaro, V. Chê, U. Schara, A. D'Amico, J. Dowling, B. Darras, A. Daron, M. Mayer, A. Hernandez, C. Vuillerot, S. Fontaine, C. deLattre, R. Bellance, V. Biancalana, A. Buj-Bello, JR. Hogrel, H. Landy, L. Servais, null NatHis-MTM Study group, Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Généthon, and Généthon
Subjects: 0303 health sciences, 03 medical and health sciences, 0302 clinical medicine, Neurology, Pediatrics, Perinatology and Child Health, Medizin, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Neurology (clinical), 030217 neurology & neurosurgery, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, 030304 developmental biology
Abstract: International audience
Published: 2018

15. MRI – MUSCLE IMAGING

Author: Anthony Behin, Y. Allenbach, Teresa Gidaro, P. Baudin, Benjamin Marty, L. Servais, Cedi Koumako, Jean-Marc Boisserie, Olivier Benveniste, Harmen Reyngoudt, Pierre G. Carlier, J. Le Louër, Brenda Wong, and T. Stojkovic
Subjects: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
Published: 2019

16. P.107Clinical changes over time in patients with centronuclear myopathy due to mutations in DNM2 gene enrolled in a European prospective natural history study

Author: C. Lilien, Nicol C. Voermans, A. Grangé, Teresa Gidaro, L. Servais, V. Chê, Andreea Mihaela Seferian, Jonathan Baets, Anthony Behin, W. De Ridder, M. Annoussamy, C. Freitag, L. Thielemans, Marc Bitoun, K. Paradis, J.Y. Hogrel, S. Van Rooijen, and D. Duchene
Subjects: medicine.medical_specialty, business.industry, medicine.disease, DNM2, Neurology, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, In patient, Neurology (clinical), Centronuclear myopathy, business, Gene, Genetics (clinical), Natural history study
Published: 2019

17. P.240ASC-1 related myopathy: phenotypic spectrum and pathophysiology of an emerging congenital myopathy

Author: L. Servais, Nicolas Deconinck, Teresa Gidaro, Montse Olivé, Johann Böhm, E. Pierce-Hoffman, A. Koparir, Ana Ferreiro, R. Juntas-Morales, Casie A. Genetti, Isabelle Duband-Goulet, L. Davignon, Alan H. Beggs, Eva Cabet, A. Yuksel, Rocío-Nur Villar-Quiles, Mireille Cossée, and Sandra Coppens
Subjects: Pathology, medicine.medical_specialty, business.industry, medicine.disease, Congenital myopathy, Phenotype, Pathophysiology, Neurology, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), medicine.symptom, business, Myopathy, Genetics (clinical)
Published: 2019

18. Invited review: Stem cells and muscle diseases: advances in cell therapy strategies

Author: Vincent Mouly, Gillian Butler-Browne, Anne Bigot, Elisa Negroni, Capucine Trollet, and Teresa Gidaro
Subjects: Histology, Cell, Biology, medicine.disease, Embryonic stem cell, 3. Good health, Pathology and Forensic Medicine, Transplantation, Cell therapy, medicine.anatomical_structure, Neurology, Physiology (medical), Immunology, medicine, Myocyte, Neurology (clinical), Stem cell, Muscular dystrophy, Induced pluripotent stem cell, Neuroscience
Abstract: Despite considerable progress to increase our understanding of muscle genetics, pathophysiology, molecular and cellular partners involved in muscular dystrophies and muscle ageing, there is still a crucial need for effective treatments to counteract muscle degeneration and muscle wasting in such conditions. This review focuses on cell-based therapy for muscle diseases. We give an overview of the different parameters that have to be taken into account in such a therapeutic strategy, including the influence of muscle ageing, cell proliferation and migration capacities, as well as the translation of preclinical results in rodent into human clinical approaches. We describe recent advances in different types of human myogenic stem cells, with a particular emphasis on myoblasts but also on other candidate cells described so far [CD133+ cells, aldehyde dehydrogenase-positive cells (ALDH+), muscle-derived stem cells (MuStem), embryonic stem cells (ES) and induced pluripotent stem cells (iPS)]. Finally, we provide an update of ongoing clinical trials using cell therapy strategies.
Published: 2015

19. EGR2 mutation enhances phenotype spectrum of Dejerine–Sottas syndrome

Author: Cécile Masson, Isabelle Nelson, Ruxandra Cardas, Marie-Thérèse Bihoreau, Laurent Servais, Catherine Delanoe, Jean-François Deleuze, E. Gargaun, Gisèle Bonne, Anne Boland, Andreea Mihaela Seferian, Teresa Gidaro, Juliette Nectoux, Anne-Gaëlle Le Moing, 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), Unité de Neurophysiologie [AP-HP Hôpital Robert Debré], AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), 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), Centre de recherche en myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de Génomique d'Evry (IG), Université Paris-Saclay-Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Plate Forme Paris Descartes de Bioinformatique (BIP-D), Université Paris Descartes - Paris 5 (UPD5), Sorbonne Université (SU), and ANR-10-INBS-0009,France-Génomique,Organisation et montée en puissance d'une Infrastructure Nationale de Génomique(2010)
Subjects: 0301 basic medicine, Genetics, education.field_of_study, Early Growth Response Protein 2, business.industry, [SDV]Life Sciences [q-bio], Phenotype, DEJERINE-SOTTAS SYNDROME, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, Mutation (genetic algorithm), DNA Mutational Analysis, Medicine, Neurology (clinical), education, business, ComputingMilieux_MISCELLANEOUS, 030217 neurology & neurosurgery
Abstract: International audience
Published: 2016

20. New myotubular myopathy classification

Author: L. Servais, C. deLattre, V. Chê, Jean-Marie Cuisset, J.Y. Hogrel, A. Hernandez, E. Gargaun, Teresa Gidaro, Rémi Bellance, A. Daron, C. Lilien, S. Fontaine, M. Mayer, Ulrike Schara, H. Landy, Valérie Biancalana, Carole Vuillerot, Anna Buj-Bello, Alessandra D'Amico, M. Annoussamy, Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Généthon, and Généthon
Subjects: 0303 health sciences, Pathology, medicine.medical_specialty, business.industry, Medizin, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, 03 medical and health sciences, 0302 clinical medicine, Neurology, Pediatrics, Perinatology and Child Health, Medicine, Myotubular Myopathy, Neurology (clinical), business, 030217 neurology & neurosurgery, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, 030304 developmental biology
Abstract: International audience
Published: 2017

21. Longitudinal data of the European prospective natural history study of patients with type 2 and 3 spinal muscular atrophy

Author: Claude Cances, Jean-Marie Cuisset, Linda Lowes, Vincent Laugel, Laurent Servais, Teresa Gidaro, A. Chabanon, M. Annoussamy, Ulrike Schara, A. Daron, Omar Khwaja, Carole Vuillerot, Ricardo Hermosilla, J.Y. Hogrel, Andreea Mihaela Seferian, Nathalie Goemans, E. Gargaun, Yann Péréon, Pierre G. Carlier, and Christian Czech
Subjects: 0301 basic medicine, medicine.medical_specialty, Longitudinal data, business.industry, Medizin, Spinal muscular atrophy, medicine.disease, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Physical medicine and rehabilitation, Neurology, Pediatrics, Perinatology and Child Health, Physical therapy, medicine, Neurology (clinical), business, 030217 neurology & neurosurgery, Genetics (clinical), Natural history study
Published: 2017

22. Associations between NMR, electrophysiological, strength and function variables in SMA type 2 and 3

Author: J. Hogrel, M. Annoussamy, A. Chabanon, A. Daron, Y. Péréon, C. Cancès, C. Vuillerot, N. Goemans, J. Cuisset, V. Laugel, U. Schara, E. Gargaun, T. Gidaro, A. Seferian, S. Turk, R. Hermosilla, E. Fournier, P. Baudin, P. Carlier, L. Servais, and NatHis SMA Study Group
Subjects: Electrophysiology, Nuclear magnetic resonance, Neurology, Chemistry, Pediatrics, Perinatology and Child Health, Medizin, Neurology (clinical), Function (mathematics), SMA, Genetics (clinical)
Published: 2017

23. Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation

Author: Anamaria Bolocan, Dominique P. Germain, Susana Quijano-Roy, Michel Fardeau, Teresa Gidaro, Nathalie Blin, Brigitte Estournet, Anne-Gaëlle Le Moing, Robert Carlier, Laurent Servais, Andreea Mihaela Seferian, Valérie Allamand, Hélène Cavé, Pascale Richard, C. Gartioux, Thomas Voit, Norma B. Romero, and Clarisse Baumann
Subjects: Ullrich congenital muscular dystrophy, DNA Mutational Analysis, Muscular Dystrophies, Amino Acyl-tRNA Synthetases, medicine, Humans, Missense mutation, HRAS, Muscle Spindles, Kyphoscoliosis, Genetics (clinical), Muscle biopsy, medicine.diagnostic_test, business.industry, Skeletal muscle, Anatomy, medicine.disease, Magnetic Resonance Imaging, medicine.anatomical_structure, Neurology, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Congenital muscular dystrophy, Female, Neurology (clinical), Differential diagnosis, business
Abstract: We report on a 5-year-old girl who presented with an association of symptoms reminiscent of an Ullrich-like congenital muscular dystrophy including congenital hypotonia, proximal joint contractures, hyperlaxity of distal joints, normal cognitive development, and kyphoscoliosis. There was an excess of neuromuscular spindles on the skeletal muscle biopsy. This very peculiar feature on muscle biopsy has been reported only in patients with mutations in the HRAS gene. Sequence analysis of the subject's HRAS gene from blood leukocytes and skeletal muscle revealed a previously described heterozygous missense mutation (c.187G>A, p. Glu63Lys). The present report thus extends the differential diagnosis of congenital muscular dystrophy with major "retractile" phenotypes and adds congenital muscular dystrophy to the clinical spectrum of HRAS-related disorders.
Published: 2014

24. SMA THERAPIES I

Author: Imelda Hughes, A. Daron, Karen L. White, Chiara Marini-Bettolo, Teresa Gidaro, Ana Ulinici, Andreea Mihaela Seferian, M. Chouchane, Mariacristina Scoto, M. Annoussamy, Juliette Ropars, L. Vanden Brande, M. Illingworth, Z. Balintova, I. Cuppen, L. Servais, Claude Cances, Nicolas Deconinck, S. Modrzejewska, Carole Vuillerot, and Karolina Aragon-Gawinska
Subjects: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), SMA, Genetics (clinical)
Published: 2018

25. O.28Safety and tolerability of suvodirsen (WVE-210201) in patients with Duchenne muscular dystrophy: results from a phase 1 clinical trial

Author: S. Schmitz, Teresa Gidaro, F. Muntoni, V. Straub, L. Servais, L. Cripe, X. Hu, S. Lake, M. Eagle, H. Phan, Kathryn R. Wagner, M. Panzara, and P. Lonkar
Subjects: medicine.medical_specialty, business.industry, Duchenne muscular dystrophy, Phases of clinical research, medicine.disease, Neurology, Tolerability, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, In patient, Neurology (clinical), business, Genetics (clinical)
Published: 2019

26. OUTCOME MEASURES

Author: L. Servais, T. Gidaro, A. Seferian, E. Gasnier, A. Daron, A. Ulinici, M. Annoussamy, M. Grelet, and D. Vissiere
Subjects: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
Published: 2019

27. PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy -Consequences in Clinical Diagnosis and Genetic Counselling

Author: Xavier Ferrer-Monasterio, Guy Brochier, Marie-Laure Martin-N, Jean Lacau Saint-Guily, Bruno Eymard, Norma B. Romero, Teresa Gidaro, Capucine Trollet, Michel Fardeau, L. Demay, Guilhem Sol, Pascal Lafor, Pascale Richard, Fernando Ms Tom, Edoardo Malfatti, 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), Institute of Myology Paris France, Institut de Myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-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)-Centre National de la Recherche Scientifique (CNRS), and CHU Bordeaux [Bordeaux]
Subjects: Genetics, Research Report, Muscle biopsy, medicine.diagnostic_test, Oculopharyngeal muscular dystrophy, [SDV]Life Sciences [q-bio], PABPN1 gene, Biology, medicine.disease, Penetrance, Phenotype, Neurology, Ptosis, Polymorphism (computer science), medicine, genetics, Neurology (clinical), medicine.symptom, Allele, Gene
Abstract: Oculopharyngeal muscular dystrophy (OPMD) is mainly characterized by ptosis and dysphagia. The genetic cause is a short expansion of a (GCN)10 repeat encoding for polyalanine in the poly(A) binding protein nuclear 1 (PABPN1) gene to (GCN)12–17 repeats. The (GCN)11/Ala11 allele has so far been described to be either a polymorphism or a recessive allele with no effect on the phenotype in the heterozygous state. Here we report the clinical and histopathological phenotype of a patient carrying a single (GCN)11/Ala11 heterozygous allele and presenting an atypical form of OPMD with dysphagia and late and mild oculomotor symptoms. Intranuclear inclusions were observed in his muscle biopsy. This suggests a dominant mode of expression of the (GCN)11/Ala11 allele associated with a partial penetrance of OPMD.
Published: 2016

28. Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy

Author: Buyse, G.M., Voit, Thomas, Schara, Ulrike, Straathof, C.S.M., D’Angelo, M.G., Bernert, G., Cuisset, J.-M., Finkel, Richard S., Goemans, N., Rummey, Christian, Leinonen, Mika, Mayer, Oscar H., Spagnolo, Paolo, Meier, Thomas, McDonald, Craig M., Knipp, F., Van den Hauwe, M., Doppler, V., Gidaro, T., Coopman, S., Lutz, S., Kirschner, J., Borell, S., Will, M., Brighina, E., Gandossini, S., Gorni, K., Falcier, E., Politano, L., D’Ambrosio, P., Taglia, A., Verschuuren, J.J.G.M., Vílchez Padilla, J.J., Muelas Gómez, N., Sejersen, T., Hovmöller, M., Jeannet, P.-Y., Bloetzer, C., Iannaccone, S., Castro, D., Tennekoon, G., Bönnemann, C., Henricson, E., Joyce, N., Apkon, S., Richardson, R.C., and Van den Hauwe, M
Subjects: 0301 basic medicine, Male, Ubiquinone, Duchenne muscular dystrophy, Medizin, Pediatrics, Antioxidants, Pulmonary function testing, law.invention, 0302 clinical medicine, Randomized controlled trial, law, respiratory function, Idebenone, Respiratory function, Lung volumes, Muscular Dystrophy, Child, Genetics (clinical), Respiration, Perinatology and Child Health, Inspiratory flow, Pediatrics, Perinatology and Child Health, Pulmonary and Respiratory Medicine, 3. Good health, Respiratory Function Tests, Treatment Outcome, Neurology, Cardiology, Inspiratory Reserve Volume, inspiratory flow, Female, Original Article, medicine.drug, medicine.medical_specialty, Adolescent, Outcomes, Placebo, 03 medical and health sciences, FEV1/FVC ratio, Internal medicine, medicine, Humans, Treatment effect, In patient, business.industry, Original Articles, idebenone, Muscular Dystrophy, Duchenne, Duchenne, medicine.disease, Surgery, 030104 developmental biology, Neurology (clinical), business, 030217 neurology & neurosurgery
Abstract: Assessment of dynamic inspiratory function may provide valuable information about the degree and progression of pulmonary involvement in patients with Duchenne muscular dystrophy (DMD). The aims of this study were to characterize inspiratory function and to assess the efficacy of idebenone on this pulmonary function outcome in a large and well-characterized cohort of 10-18 year-old DMD patients not taking glucocorticoid steroids (GCs) enrolled in the phase 3 randomized controlled DELOS trial. We evaluated the effect of idebenone on the highest flow generated during an inspiratory FVC maneuver (maximum inspiratory flow; V'I,max(FVC)) and the ratio between the largest inspiratory flow during tidal breathing (tidal inspiratory flow; V'I,max(t)) and the V'I,max(FVC). The fraction of the maximum flow that is not used during tidal breathing has been termed inspiratory flow reserve (IFR). DMD patients in both treatment groups of DELOS (idebenone, n = 31; placebo: n = 33) had comparable and abnormally low V'I,max(FVC) at baseline. During the study period, V'I,max(FVC) further declined by -0.29 L/sec in patients on placebo (95%CI: -0.51, -0.08; P = 0.008 at week 52), whereas it remained stable in patients on idebenone (change from baseline to week 52: 0.01 L/sec; 95%CI: -0.22, 0.24; P = 0.950). The between-group difference favoring idebenone was 0.27 L/sec (P = 0.043) at week 26 and 0.30 L/sec (P = 0.061) at week 52. In addition, during the study period, IFR improved by 2.8% in patients receiving idebenone and worsened by -3.0% among patients on placebo (between-group difference 5.8% at week 52; P = 0.040). Although the clinical interpretation of these data is currently limited due to the scarcity of routine clinical practice experience with dynamic inspiratory function outcomes in DMD, these findings from a randomized controlled study nevertheless suggest that idebenone preserved inspiratory muscle function as assessed by V'I,max(FVC) and IFR in patients with DMD. Pediatr Pulmonol. © 2016 The Authors. Pediatric Pulmonology Published by Wiley Periodicals, Inc. ispartof: Pediatric Pulmonology vol:52 issue:4 pages:508-515 ispartof: location:United States status: published
Published: 2016

29. X-linked myotubular myopathy in ambulant patients

Author: J.Y. Hogrel, Jean-Michel Arnal, V. Chê, M. Annoussamy, Teresa Gidaro, A. Daron, M. Mayer, Jocelyn Laporte, C. Lilien, Valérie Biancalana, L. Servais, D. Ramsdell, Carina Wallgren-Pettersson, H. Landy, Anna Buj-Bello, Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Généthon, and Généthon
Subjects: 0303 health sciences, Pathology, medicine.medical_specialty, business.industry, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, medicine.disease, X-linked myotubular myopathy, 03 medical and health sciences, 0302 clinical medicine, Neurology, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), business, 030217 neurology & neurosurgery, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, 030304 developmental biology
Abstract: International audience
Published: 2016

30. Baseline data from patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study

Author: J.Y. Hogrel, H. Landy, Teresa Gidaro, Ulrike Schara, E. Gargaun, A. Daron, A. Hernandez, Laurent Servais, S. Fontaine, Carole Vuillerot, Jean-Michel Arnal, Valérie Biancalana, Anna Buj-Bello, M. Annoussamy, Michèle Mayer, V. Chê, C. Lilien, A. Gangfuss, Jean-Marie Cuisset, Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Généthon, and Généthon
Subjects: 0301 basic medicine, Pediatrics, medicine.medical_specialty, business.industry, Medizin, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Baseline data, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, Pediatrics, Perinatology and Child Health, medicine, Physical therapy, Myotubular Myopathy, Neurology (clinical), business, 030217 neurology & neurosurgery, Genetics (clinical), Natural history study, ComputingMilieux_MISCELLANEOUS
Abstract: International audience
Published: 2016

31. Feasibility of magneto-inertial motion analysis in non-ambulant patients with spinal muscular atrophy

Author: Andreea Mihaela Seferian, Ulrike Schara, Teresa Gidaro, E. Gargaun, A. Chabanon, E. Gasnier, Carole Vuillerot, Nathalie Goemans, Y. Pereon, D. Vissiere, A. Daron, M. Annoussamy, Claude Cances, G. Quicke, Anne Marquet, Jean-Marie Cuisset, Vincent Laugel, and Laurent Servais
Subjects: Physics, medicine.medical_specialty, Physical medicine and rehabilitation, Neurology, Pediatrics, Perinatology and Child Health, medicine, Medizin, Inertial motion, Neurology (clinical), Spinal muscular atrophy, medicine.disease, Magneto, Genetics (clinical)
Published: 2016

32. Relationship between muscle impairments, postural stability, and gait parameters assessed with lower-trunk accelerometry in myotonic dystrophy type 1

Author: Gwenn Ollivier, Damien Bachasson, Tanya Stojkovic, Isabelle Ledoux, Guillaume Bassez, Amélie Moraux, Anthony Behin, Valérie Decostre, Jean-Yves Hogrel, Jack Puymirat, Teresa Gidaro, Bruno Eymard, Laurent Servais, and Luc J. Hébert
Subjects: Adult, Male, 030506 rehabilitation, medicine.medical_specialty, STRIDE, Walk Test, Handgrip myotonia, Myotonic dystrophy, Body Mass Index, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Physical medicine and rehabilitation, Accelerometry, medicine, Humans, Myotonic Dystrophy, Force platform, Muscle, Skeletal, Gait, Postural Balance, Genetics (clinical), Muscle Weakness, Hand Strength, business.industry, Muscle weakness, Middle Aged, medicine.disease, Biomechanical Phenomena, body regions, Preferred walking speed, medicine.anatomical_structure, Neurology, Gait analysis, Pediatrics, Perinatology and Child Health, Physical therapy, Female, Neurology (clinical), medicine.symptom, Ankle, 0305 other medical science, business, human activities, 030217 neurology & neurosurgery
Abstract: This study evaluated gait using lower-trunk accelerometry and investigated relationships between gait abnormalities, postural instability, handgrip myotonia, and weakness in lower-limb and axial muscle groups commonly affected in myotonic dystrophy type 1 (DM1). Twenty-two patients (11 men, 11 women; age = 42 years (range: 26–51)) with DM1 and twenty healthy controls (9 men, 11 women; age = 44 years (range: 24–50)) participated in this study. Gait analysis using lower-trunk accelerometry was performed at self-selected walking pace. Postural stability was measured via center of pressure displacement analysis using a force platform during eyes-closed normal stance. Handgrip myotonia was quantified using force-relaxation curve modeling. Patients displayed lower walking speed, stride frequency, stride length, gait regularity, and gait symmetry. Strength of ankle plantar flexors, ankle dorsal flexors and neck flexors correlated with interstride regularity in the vertical direction (ρ = 0.57, ρ = 0.59, and ρ = 0.44, respectively; all P
Published: 2015

33. Rimeporide: safety, tolerability and pharmacokinetic results from a phase Ib study in DMD boys as well as exploratory biomarkers

Author: Stefano C. Previtali, J. Gray, N. Vidal, F. Porte-Thomé, J. Diaz, Jacqueline Pitchforth, J. Brimble, Teresa Gidaro, L. Servais, Maria Grazia Natali Sora, Alberto A. Zambon, C. Laveille, Simonetta Gerevini, Francesco Muntoni, D. Duchene, K. Groves, H. Gheit, V. Chê, K. Maresh, and M. Annoussamy
Subjects: Oncology, medicine.medical_specialty, business.industry, Safety tolerability, 030204 cardiovascular system & hematology, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Neurology, Pharmacokinetics, chemistry, Internal medicine, Pediatrics, Perinatology and Child Health, Rimeporide, Medicine, Neurology (clinical), business, 030217 neurology & neurosurgery, Genetics (clinical)
Published: 2017

34. GNE-myopathy (HIBM): Upper and lower extremity muscle strength declines over time in a prospective study

Author: J. Shah, Teresa Gidaro, Ivailo Tournev, Tahseen Mozaffar, S. Krolczyk, Tony Koutsoukos, Hanns Lochmüller, Mark A. Tarnopolsky, Anthony Behin, and Oksana Pogoryelova
Subjects: medicine.medical_specialty, business.industry, GNE MYOPATHY, 03 medical and health sciences, 0302 clinical medicine, Neurology, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Cardiology, Muscle strength, 030212 general & internal medicine, Neurology (clinical), Prospective cohort study, business, 030217 neurology & neurosurgery, Genetics (clinical)
Published: 2017

35. First experience of Nusinersen early access program in patients with spinal muscular atrophy type 1

Author: Andreea Mihaela Seferian, K. Boukouti, M. Annousamy, L. Flet Berliac, L. Fiedler, Claude Cances, Carole Vuillerot, A. Daron, C. Lilien, H. Armier, A. Colcer, K. Aragon-Gawinska, L. Servais, S. Gilabert, A. De, E. Gargaun, and Teresa Gidaro
Subjects: medicine.medical_specialty, business.industry, Spinal muscular atrophy, medicine.disease, 030227 psychiatry, Surgery, 03 medical and health sciences, 0302 clinical medicine, Neurology, Pediatrics, Perinatology and Child Health, Physical therapy, Medicine, In patient, Nusinersen, Neurology (clinical), business, 030217 neurology & neurosurgery, Genetics (clinical)
Published: 2017

36. Activities of daily living detection using home activity monitoring device in Duchenne muscular dystrophy patients

Author: Andreea Mihaela Seferian, M. Grelet, E. Gasnier, B. Beaufils, Teresa Gidaro, E. Dorveaux, David Vissiere, Amélie Moraux, and L. Servais
Subjects: Activity monitoring, medicine.medical_specialty, Activities of daily living, Neurology, business.industry, Duchenne muscular dystrophy, Pediatrics, Perinatology and Child Health, Physical therapy, Medicine, Neurology (clinical), business, medicine.disease, Genetics (clinical)
Published: 2017

37. SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES

Author: J. Hogrel, M. Annoussamy, A. Chabanon, A. Daron, Y. Péréon, C. Cances, C. Vuillerot, N. Goemans, J. Cuisset, V. Laugel, U. Schara, E. Gargaun, T. Gidaro, A. Seferian, S. Turk, R. Hermosilla, E. Fournier, P. Baudin, P. Carlier, L. Servais, and null Study Group
Subjects: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
Published: 2018

38. CONGENITAL MYOPATHIES (CNM)

Author: M. Annoussamy, A. Grangé, C. Lilien, V. Chê, D. Duchêne, T. Gidaro, A. Behin, J. Baets, A. D'Amico, null Daron, M. Bitoun, K. Paradis, L. Thielemans, S. Van Rooijen, and L. Servais
Subjects: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
Published: 2018

39. CONGENITAL MYOPATHIES: GENERAL AND RYR1

Author: S. Coppen, Teresa Gidaro, Alan H. Beggs, A. Koparir, Laurent Servais, Isabelle Duband-Goulet, Ana Ferreiro, L. Davignon, F. Catervi, Eva Cabet, Casie A. Genetti, and E. Pierce-Hoffman
Subjects: RYR1, Pediatrics, medicine.medical_specialty, Neurology, business.industry, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), business, Genetics (clinical)
Published: 2018

40. SMA THERAPIES I

Author: K. Aragon-Gawinska, A. Seferian, L. Vanden Brande, A. Daron, A. Ulinici, N. Deconinck, M. Annoussamy, C. Vuillerot, C. Cances, J. Ropars, M. Chouchane, Z. Balintova, S. Modrzejewska, I. Cuppen, I. Hughes, M. Illingworth, C. Marini-Bettolo, K. White, M. Scoto, T. Gidaro, and L. Servais
Subjects: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
Published: 2018

41. DUCHENNE MUSCULAR DYSTROPHY - PHYSIOTHERAPY

Author: C. Lilien, M. Grelet, E. Gasnier, T. Gidaro, A. Seferian, A. Rigaud, D. Vissière, and L. Servais
Subjects: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
Published: 2018

42. CONGENITAL MYASTHENIC SYNDROMES AND MYASTHENIA

Author: T. Gidaro, L. Vandenbrande, E. Malfatti, C. Labasse, P. Carlier, N. Romero, L. Servais, and J. Böhm
Subjects: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
Published: 2018

43. DUCHENNE MUSCULAR DYSTROPHY - PHYSIOTHERAPY

Author: L. Servais, E. Gasnier, M. Grelet, T. Gidaro, A. Seferian, and D. Vissieres
Subjects: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
Published: 2018

44. Natural history and functional status of patients with myotubular myopathy enrolled in a prospective and longitudinal study

Author: T. Voit, Gwenn Ollivier, Carsten G. Bönnemann, C. Lilien, Jean-Marie Cuisset, A.G. Le Moing, Anna Buj-Bello, Francesco Muntoni, M. Nelken, J.Y. Hogrel, Ruxandra Cardas, Federico Mingozzi, N. R'guiba, Laurent Servais, D. Ramsdell, Teresa Gidaro, H. Landy, Valérie Biancalana, Michèle Mayer, M. Annoussamy, Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Généthon, and Généthon
Subjects: 0303 health sciences, Pediatrics, medicine.medical_specialty, Longitudinal study, business.industry, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, 3. Good health, Natural history, 03 medical and health sciences, 0302 clinical medicine, Neurology, Pediatrics, Perinatology and Child Health, medicine, Physical therapy, Myotubular Myopathy, Functional status, Neurology (clinical), business, 030217 neurology & neurosurgery, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, 030304 developmental biology
Abstract: International audience
Published: 2015

45. Non-ambulant Duchenne patients theoretically treatable by Exon 53 skipping have severe phenotype

Author: Laurent Servais, Marie Montus, Caroline Le Guiner, Rabah Ben Yaou, Mélanie Annoussamy, Amélie Moraux, Jean-Yves Hogrel, Andreea M. Seferian, Karima Zehrouni, Anne-Gaëlle Le Moing, Teresa Gidaro, Catherine Vanhulle, Vincent Laugel, Nina Butoianu, Jean-Marie Cuisset, Pascal Sabouraud, Claude Cances, Andrea Klein, France Leturcq, Philippe Moullier, Thomas Voit, 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), Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Généthon, Généthon, Laboratoire de Thérapie Génique Translationnelle des Maladies Génétiques (Inserm UMR 1089), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Service de pédiatrie néonatale et réanimation - neuropédiatrie [CHU Rouen], Hôpital Charles Nicolle [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Laboratoire de Génétique Médicale (LGM), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), University Children’s Hospital Zurich, 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), Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), École pratique des hautes études (EPHE), Hôpital Charles Nicolle [Rouen]-CHU Rouen, Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], University of Zurich, and Servais, L
Subjects: Research Report, musculoskeletal diseases, Duchenne muscular dystrophy, Pediatrics, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, [SDV]Life Sciences [q-bio], Population, phenotype-genotype correlation, 610 Medicine & health, 03 medical and health sciences, Exon, outcome measures, 0302 clinical medicine, medicine, education, 030304 developmental biology, Muscle contracture, 0303 health sciences, education.field_of_study, Ejection fraction, business.industry, medicine.disease, Exon skipping, nervous system diseases, Clinical trial, 2728 Neurology (clinical), Neurology, 10036 Medical Clinic, 2808 Neurology, Cohort, Cancer research, Neurology (clinical), business, 030217 neurology & neurosurgery, exon skipping
Abstract: Background: Exon skipping therapy is an emerging approach in Duchenne Muscular Dystrophy (DMD). Antisense oligonucleotides that induce skipping of exon 51, 44, 45, or 53 are currently being evaluated in clinical trials. These trials were designed on the basis of data available in general DMD population. Objectives: Our objective was to compare the clinical and functional statuses of non-ambulant DMD patients theoretically treatable by exon 53 skipping and of DMD patients with other mutations. Methods: We first compared fifteen non-ambulant DMD patients carrying deletions theoretically treatable by exon 53 skipping (DMD-53) with fifteen closely age-matched DMD patients with mutations not treatable by exon 53 skipping (DMD-all-non-53) then with fifteen DMD patients carrying deletions not treatable by exon 53 skipping (DMD-del-non-53). Results: We found that DMD-53 patients had a lower left ventricular ejection fraction, more contractures and they tend to have weaker grips and pinch strengths than other DMD patients. DMD-53 patients lost ambulation significantly younger than other DMD patients. This result was confirmed by comparing ages at loss of ambulation in all non-ambulant DMD patients of the DMD cohort identified in a molecular diagnostic lab. Conclusions: These prospective and retrospective data demonstrate that DMD-53 patients have clinically more severe phenotypes than other DMD patients.
Published: 2015

46. Upper and lower extremity muscle strength decline over 1 year in a prospective, observational GNE-myopathy natural history study

Author: Hanns Lochmüller, Teresa Gidaro, Tony Koutsoukos, Oksana Pogoryelova, E. Connor, Mark A. Tarnopolsky, Anthony Behin, I. Tourney, and Tahseen Mozaffar
Subjects: 0301 basic medicine, medicine.medical_specialty, Pediatrics, business.industry, GNE MYOPATHY, Surgery, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, Pediatrics, Perinatology and Child Health, medicine, Muscle strength, Observational study, Neurology (clinical), business, 030217 neurology & neurosurgery, Genetics (clinical), Natural history study
Published: 2016

47. Results of a Phase 1b/2 Study of ATYR1940 in adolescents and young adults with early onset facioscapulohumeral muscular dystrophy (FSHD) (ATYR1940-C-003)

Author: S. Shukla, L. Servais, G. Walker, Teresa Gidaro, L. Maggi, John W. Day, Russell J. Butterfield, and Katherine D. Mathews
Subjects: 0301 basic medicine, Pediatrics, medicine.medical_specialty, business.industry, 030105 genetics & heredity, medicine.disease, 03 medical and health sciences, Neurology, Pediatrics, Perinatology and Child Health, medicine, Facioscapulohumeral muscular dystrophy, Neurology (clinical), Young adult, business, Genetics (clinical), Early onset
Published: 2017

48. Innovative home activity monitoring in non-ambulant patients with spinal muscular atrophy: a multicenter observational trial

Author: Jean-Marie Cuisset, A. Chabanon, L. Servais, Teresa Gidaro, Carole Vuillerot, David Vissiere, M. Annoussamy, Andreea Mihaela Seferian, Christian Czech, Amélie Moraux, Ricardo Hermosilla, E. Toledano, A. Daron, Omar Khwaja, Claude Cances, G. Quicke, E. Gasnier, E. Gargaun, and Yann Péréon
Subjects: medicine.medical_specialty, Observational Trial, business.industry, Spinal muscular atrophy, medicine.disease, Activity monitoring, Physical medicine and rehabilitation, Neurology, Pediatrics, Perinatology and Child Health, medicine, Physical therapy, Neurology (clinical), business, Genetics (clinical)
Published: 2017

49. Safety, tolerability and clinical efficacy of nusinersen in SMA type 1 older than 7 months: a prospective study

Author: E. Marucco, L. Servais, E. Gargaun, L. Flet Berliac, Teresa Gidaro, C. Lilien, S. Gilabert, Carole Vuillerot, A. Daron, K. Aragon-Gawinska, Andreea Mihaela Seferian, H. Armier, Claude Cances, A. De, and L. Fiedler
Subjects: medicine.medical_specialty, business.industry, Safety tolerability, SMA, Neurology, Internal medicine, Pediatrics, Perinatology and Child Health, Medicine, Nusinersen, Neurology (clinical), Clinical efficacy, Prospective cohort study, business, Genetics (clinical)
Published: 2017

50. Longitudinal home-monitoring data in non-ambulant patients with Duchenne muscular atrophy

Author: E. Gargaun, Teresa Gidaro, S. Gillabert, David Vissiere, V. Chê, E. Gasnier, G. Quicke, Amélie Moraux, L. Servais, C. Lilien, Andreea Mihaela Seferian, and M. Annoussamy
Subjects: medicine.medical_specialty, Atrophy, Physical medicine and rehabilitation, Neurology, business.industry, Monitoring data, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), medicine.disease, business, Genetics (clinical)
Published: 2017

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