39 results on '"Richelme, Christian"'
Search Results
2. Effect of nusinersen after 3 years of treatment in 57 young children with SMA in terms of SMN2 copy number or type
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Audic, Frédérique, Dubois, Sonia M., Durigneux, Julien, Barnerias, Christine, Isapof, Arnaud, Nougues, Marie-Christine, Davion, Jean-Baptiste, Richelme, Christian, Vuillerot, Carole, Legoff, Laure, Sabouraud, Pascal, Cances, Claude, Laugel, Vincent, Ropars, Juliette, Espil-Taris, Caroline, Trommsdorff, Valérie, Pervillé, Anne, Garcia-de-la-Banda, Marta Gomez, Testard, Hervé, Chouchane, Mondher, Walther-Louvier, Ulrike, Schweizer, Cyril, Halbert, Cécile, Badri, Myriam, Quijano-Roy, Susana, Chabrol, Brigitte, and Desguerre, Isabelle
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- 2024
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3. Effect of nusinersen after 3 years of treatment in 57 young children with SMA in terms of SMN2 copy number or type
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Audic, Frédérique, primary, Dubois, Sonia M., additional, Durigneux, Julien, additional, Barnerias, Christine, additional, Isapof, Arnaud, additional, Nougues, Marie-Christine, additional, Davion, Jean-Baptiste, additional, Richelme, Christian, additional, Vuillerot, Carole, additional, Legoff, Laure, additional, Sabouraud, Pascal, additional, Cances, Claude, additional, Laugel, Vincent, additional, Ropars, Juliette, additional, Espil-Taris, Caroline, additional, Trommsdorff, Valérie, additional, Pervillé, Anne, additional, Garcia-de-la-Banda, Marta Gomez, additional, Testard, Hervé, additional, Chouchane, Mondher, additional, Walther-Louvier, Ulrike, additional, Schweizer, Cyril, additional, Halbert, Cécile, additional, Badri, Myriam, additional, Quijano-Roy, Susana, additional, Chabrol, Brigitte, additional, and Desguerre, Isabelle, additional
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- 2023
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4. Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the three first years of treatment.
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DESGUERRE, Isabelle, primary, BARROIS, Rémi, additional, AUDIC, Frédérique, additional, BARNERIAS, Christine, additional, CHABROL, Brigitte, additional, DAVION, Jean-Baptiste, additional, DURIGNEUX, Julien, additional, ESPIL-TARIS, Caroline, additional, BANDA, Marta GOMEZ-GARCIA DE LA, additional, GUICHARD, Marine, additional, ISAPOF, Arnaud, additional, NOUGUES, Marie-Christine, additional, LAUGEL, Vincent, additional, GOFF, Laure LE, additional, MERCIER, Sandra, additional, PERVILLE, Anne, additional, RICHELME, Christian, additional, THIBAUD, Marie, additional, SARRET, Catherine, additional, SCHWEITZER, Cyril, additional, TESTARD, Hervé, additional, TROMMSDORFF, Valérie, additional, VANHULLE, Catherine, additional, WALTHER-LOUVIER, Ulrike, additional, ALTAZURRA, Cecilia, additional, CHOUCHANE, Mondher, additional, ROPARS, Juliette, additional, QUIJANO-ROY, Susana, additional, and CANCES, Claude, additional
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- 2023
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5. Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations
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Marzin, Pauline, Mignot, Cyril, Dorison, Nathalie, Dufour, Louis, Ville, Dorothée, Kaminska, Anna, Panagiotakaki, Eleni, Dienpendaele, Anne-Sophie, Penniello, Marie-José, Nougues, Marie-Christine, Keren, Boris, Depienne, Christel, Nava, Caroline, Milh, Mathieu, Villard, Laurent, Richelme, Christian, Rivier, Clotilde, Whalen, Sandra, Heron, Delphine, Lesca, Gaëtan, and Doummar, Diane
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- 2018
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6. NDUFS6 related Leigh syndrome: a case report and review of the literature
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Rouzier, Cécile, Chaussenot, Annabelle, Fragaki, Konstantina, Serre, Valérie, Ait-El-Mkadem, Samira, Richelme, Christian, Paquis-Flucklinger, Véronique, and Bannwarth, Sylvie
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- 2019
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7. Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study
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Audic, Frédérique, de la Banda, Marta Gomez Garcia, Bernoux, Delphine, Ramirez-Garcia, Paola, Durigneux, Julien, Barnerias, Christine, Isapof, Arnaud, Cuisset, Jean-Marie, Cances, Claude, Richelme, Christian, Vuillerot, Carole, Laugel, Vincent, Ropars, Juliette, Altuzarra, Cécilia, Espil-Taris, Caroline, Walther-Louvier, Ulrike, Sabouraud, Pascal, Chouchane, Mondher, Vanhulle, Catherine, Trommsdorff, Valérie, Pervillé, Anne, Testard, Hervé, Lagrue, Emmanuelle, Sarret, Catherine, Avice, Anne-Laude, Beze-Beyrie, Pierre, Pauly, Vanessa, Quijano-Roy, Susana, Chabrol, Brigitte, and Desguerre, Isabelle
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- 2020
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8. A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management
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Lagrue, Emmanuelle, Dogan, Céline, De Antonio, Marie, Audic, Frédérique, Bach, Nathalie, Barnerias, Christine, Bellance, Rémi, Cances, Claude, Chabrol, Brigitte, Cuisset, Jean-Marie, Desguerre, Isabelle, Durigneux, Julien, Espil, Caroline, Fradin, Mélanie, Héron, Delphine, Isapof, Arnaud, Jacquin-Piques, Agnès, Journel, Hubert, Laroche-Raynaud, Cécile, Laugel, Vincent, Magot, Armelle, Manel, Véronique, Mayer, Michèle, Péréon, Yann, Perrier-Boeswillald, Julie, Peudenier, Sylviane, Quijano-Roy, Susana, Ragot-Mandry, Sylvie, Richelme, Christian, Rivier, François, Sabouraud, Pascal, Sarret, Catherine, Testard, Hervé, Vanhulle, Catherine, Walther-Louvier, Ulrike, Gherardi, Romain, Hamroun, Dalil, and Bassez, Guillaume
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- 2019
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9. Effect of nusinersen after three years of treatment in 61 young children with SMA type 1 or 2: a French real-life observational study
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AUDIC, frédérique, primary, Dubois, Sonia M, additional, Durigneux, Julien, additional, Barnerias, Christine, additional, Isapof, Arnaud, additional, Nougues, Marie-Christine, additional, Davion, Jean-Baptiste, additional, Richelme, Christian, additional, Vuillerot, Carole, additional, Legoff, Laure, additional, Sabouraud, Pascal, additional, Cances, Claude, additional, Laugel, Vincent, additional, Ropars, Juliette, additional, Espil-Taris, Caroline, additional, Trommsdorff, Valérie, additional, Pervillé, Anne, additional, Banda, Marta Gomez Garcia de la, additional, Testard, Hervé, additional, Chouchane, Mondher, additional, Walther-Louvier, Ulrike, additional, Schweizer, Cyril, additional, Halbert, Cécile, additional, Badri, Myriam, additional, Pauly, Vanessa, additional, Quijano-Roy, Susana, additional, Chabrol, Brigitte, additional, and Desguerre, Isabelle, additional
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- 2022
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10. Case Report: Anti-NMDAR Encephalitis Presenting With Catatonic Symptoms in an Adolescent Female Patient With a History of Traumatic Exposure
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Bogdan, Anamaria, primary, Askenazy, Florence, additional, Richelme, Christian, additional, Gindt, Morgane, additional, Thümmler, Susanne, additional, and Fernandez, Arnaud, additional
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- 2022
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11. Neurodevelopmental and immunological features in a child presenting 22q13.2 microdeletion
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Thümmler, Susanne, Giuliano, Fabienne, Karmous-Benailly, Houda, Richelme, Christian, Fernandez, Arnaud, De Georges, Christine, and Askenazy, Florence
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- 2016
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12. Soins palliatifs dans les maladies neuromusculaires de l’enfant. Expérience d’une coopération entre une équipe de neuropédiatrie et une équipe ressource douleur et soins palliatifs pédiatriques
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Alberge, Marie-Claire, Brocq, Héléne, Richelme, Christian, Chappuis, Viviane, Lantéri-Minet, Michel, and Desnuelle, Claude
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- 2010
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13. Evolution of a patient with Bohring–Opitz syndrome
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Pierron, Sophie, Richelme, Christian, Triolo, Valérie, Mas, Jean Christophe, Griffet, Jacques, Karmous-Benailly, Houda, Quere, M., Kaname, Tadashi, Lambert, Jean-Claude, and Giuliano, Fabienne
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- 2009
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14. The three stages of epilepsy in patients with CDKL5 mutations
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Bahi-Buisson, Nadia, Kaminska, Anna, Boddaert, Nathalie, Rio, Marlène, Afenjar, Alexandra, Gérard, Marion, Giuliano, Fabienne, Motte, Jacques, Héron, Delphine, Morel, Marie Ange NʼGuyen, Plouin, Perrine, Richelme, Christian, des Portes, Vincent, Dulac, Olivier, Philippe, Christophe, Chiron, Catherine, Nabbout, Rima, and Bienvenu, Thierry
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- 2008
15. Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry
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Marques, Ruben, Belousoye, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, D'Amato, Lisa, d'Augeres, Guillaume Beaure, de Vries, Petrus J., Ferreira, Jose C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A., Macaya, Alfons, Nabbout, Rima, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Kingswood, John C., Jansen, Anna C., Shinohara, Nobuo, LIorie, Shigeo, Kubota, Masaya, Tohyama, Jun, Imai, Katsumi, Kaneda, Mari, Kaneko, Hideo, Uchida, Yasushi, Kirino, Tomoko, Endo, Shoichi, Inoue, Yoshikazu, Uruno, Katsuhisa, Serdaroglu, Ayse, Yapici, Zuhal, Anlar, Banu, Altunbasak, Sakir, Lvova, Olga, Belyaev, Oleg Valeryevich, Agranovich, Oleg, Levitina, Elena Vladislavovna, Maksimova, Yulia Vladimirovna, Karas, Antonina, Jiang, Yuwu, Zou, Liping, Xu, Kaifeng, Zhang, Yushi, Luan, Guoming, Zhang, Yuqin, Wang, Yi, Jin, Meiling, Ye, Dingwei, Liao, Weiping, Zhou, Liemin, Liu, Jie, Liao, Jianxiang, Yan, Bo, Deng, Yanchun, Jiang, Li, Liu, Zhisheng, Huang, Shaoping, Li, Hua, Kim, Kijoong, Chen, Pei-Lung, Lee, Hsiu-Fen, Tsai, Jeng-Dau, Chi, Ching-Shiang, Huang, Chao-Ching, Riney, Australia Kate, Yates, Deborah, Kwan, Patrick, Likasitwattanakul, Surachai, Nabangchang, Charcrin, Chomtho, Lunliya Thampratankul Krisnachai, Katanyuwong, Kamornwan, Sriudomkajorn, Somjit, Wilmshurst, Jo, Segel, Reeval, Gilboa, Tal, Tzadok, Michal, Fattal-Valevski, Aviva, Papathanasopoulos, Panagiotis, Papavasiliou, Antigone Syrigou, Giannakodimos, Stylianos, Gatzonis, Stylianos, Pavlou, Evangelos, Tzoufi, Meropi, Vergeer, A. M. M., Dhooghe, Marc, Verhelst, Helene, Roelens, Filip, Nassogne, Marie Cecile, Defresne, Pierre, De Waele, Liesbeth, Leroy, Patricia, Demonceau, Nathalie, Legros, Benjamin, Van Bogaert, Patrick, Ceulemans, Berten, Dom, Lina, Castelnau, Pierre, Martin, Anne De Saint, Riquet, Audrey, Milh, Mathieu, Cances, Claude, Pedespan, Jean-Michel, Ville, Dorothee, Roubertie, Agathe, Auvin, Stephane, Berquin, Patrick, Richelme, Christian, Allaire, Catherine, Gueden, Sophie, Tich, Sylvie Nguyen The, Godet, Bertrand, Falco Rojas, Maria Luz Ruiz, Campistol Planas, Jaume, Martinez Bermejo, Antonio, Smeyers Dura, Patricia, Roldan Aparicio, Susana, Martinez Gonzalez, Maria Jesus, Lopez Pison, Javier, Blanco Barca, Manuel Oscar, Lopez Laso, Eduardo, Alonso Luengo, Olga, Aguirre Rodriguez, Francisco Javier, Malaga Dieguez, Ignacio, Camacho Salas, Ana, Marti Carrera, Itxaso, Martinez Salcedo, Eduardo, Yoldi Petri, Maria Eugenia, Cancho Candela, Ramon, Carrilho, Ines da Conceicao, Vieira, Jose Pedro, da Silva Oliveira Monteiro, Jose Paulo, de Oliveira Ferreira Leao, Miguel Jorge Santos, Marceano Ribeiro Luis, Catarina Sofia, Mendonca, Carla Pires, Endziniene, Milda, Strautmanis, Jurgis, Talvik, Inga, Canevini, Maria Paola, Gambardella, Antonio, Pruna, Dario, Buono, Salvatore, Fontana, Elena, Dalla Bernardina, Bernardo, Burloiu, Carmen, Cosma, Iuliu Stefan Bacos, Vintan, Mihaela Adela, Popescu, Laura, Zitterbart, Karel, Payerova, Jaroslava, Bratsky, Ladislav, Zilinska, Zuzana, Gruber-Sedlmayr, Ursula, Baumann, Matthias, Laberlandt, Edda, Rostasy, Kevin, Pataraia, Ekaterina, Elmslie, Frances, Johnston, Clare Ann, Crawford, Pamela, Uldall, Peter, Uvebrant, Paul, Rask, Olof, Bjoernvold, Marit, Brodtkorb, Eylert, Sloerdahi, Andreas, Solhoff, Ragnar, Jaatun, Martine Sofie Gilje, Mandera, Marek, Radzikowska, Elzbieta Janina, Wysocki, Mariusz, Fischereder, Michael, Kurlemann, Gerhard, Wilken, Bernd, Wiemer-Kruel, Adelheid, Budde, Klemens, Marquard, Klaus, Knuf, Markus, Hahn, Andreas, Hartmann, Hans, Merkenschlager, Andreas, Trollmann, Regina, Consortium, TOSCA, Investigators, TOSCA, Physiotherapy, Human Physiology and Anatomy, Pediatrics, Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics, De Waele, L, [Marques R] Novartis Farma SpA, Origgio, Italy. Institute of Biomedicine (IBIOMED), University of Leon, León, Spain. [Belousova E] Research and Clinical Institute of Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russia. [Benedik MP] SPS Pediatrična Klinika, Ljubljana, Slovenia. [Carter T] TSA Tuberous Sclerosis Association, Nottingham, United Kingdom. [Cottin V] Hôpital Louis Pradel, Claude Bernard University Lyon 1, Lyon, France. [Curatolo P] Tor Vergata University Hospital, Rome, Italy. [Macaya A] Servei de Pediatria General i Especialitats, Vall d'Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Novartis Pharma AG, Universidad de León [León], Pirogov Russian National Reasearch Medical University Moscow, University Medical Centre Ljubljana [Ljubljana, Slovenia] (UMCL), TSA Tuberous Sclerosis Association, Nottingham, United Kingdom, Hôpital Louis Pradel [CHU - HCL], Hospices Civils de Lyon (HCL), Department of Public Health and Cell Biology, University of Rome Tor Vergata, Via Montpellier 1, 00133 Rome, Italy, Karolinska Institutet [Stockholm], Association Sclérose Tubéreuse de Bourneville (Gradignan), University of Cape Town, Centro Hospitalar de Lisboa Central E.P.E, Medizinische Universität Wien = Medical University of Vienna, Universitätsklinik für Kinder-und Jugendheilkunde, Vivantes Klinikum Neukölln [Berlin, Germany] (VKN), Medical University of Warsaw - Poland, Sydney Children's hospital, Fundació Institut de Recerca de l'Hospital Universitari Vall d'Hebron, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Institute of Child Health [London], University College of London [London] (UCL), People's Hospital of Peking University (PEKING - PHPU), Peking University [Beijing], Tallinn Children's Hospital [Tallinn, Estonia], Klinikverbund Kempten-Oberallgäu gGmbH, University of Shizuoka, Service de Génétique Clinique Chromosomique et Moléculaire, CHU Saint-Etienne-Hôpital Nord - Saint-Etienne, St. Sophia Children’s Hospital, Athens, Department of Clinical Genetics, St George’s University Hospitals, and Vrije Universiteit Brussel (VUB)
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calidad, acceso y evaluación de la atención sanitaria::calidad de la atención sanitaria::mecanismos de evaluación de la atención sanitaria::recopilación de datos::registros [ATENCIÓN DE SALUD] ,Pediatrics ,[SDV]Life Sciences [q-bio] ,Disease ,registry ,GUIDELINES ,RECOMMENDATIONS ,lcsh:RC346-429 ,Tuberous sclerosis ,Epilepsy ,0302 clinical medicine ,Health care ,Medicine and Health Sciences ,030212 general & internal medicine ,TOSCA ,TSC ,management ,rare diseases ,resource use ,Serveis sanitaris - Administració ,Original Research ,Esclerosi tuberosa ,Settore MED/39 ,3. Good health ,medicine.anatomical_structure ,Neurology ,HEALTH-CARE UTILIZATION ,BURDEN ,Life Sciences & Biomedicine ,Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Neoplastic Syndromes, Hereditary::Tuberous Sclerosis [DISEASES] ,enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::síndromes neoplásicos hereditarios::esclerosis tuberosa [ENFERMEDADES] ,congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,Clinical Neurology ,DIAGNOSIS ,Bases de dades - Disseny ,calidad, acceso y evaluación de la atención sanitaria::prestación sanitaria::recursos en salud [ATENCIÓN DE SALUD] ,03 medical and health sciences ,MANAGEMENT ,medicine ,Health Care Quality, Access, and Evaluation::Delivery of Health Care::Health Resources [HEALTH CARE] ,lcsh:Neurology. Diseases of the nervous system ,Science & Technology ,Subependymal giant cell astrocytoma ,business.industry ,Neurosciences ,medicine.disease ,LYMPHANGIOLEIOMYOMATOSIS ,Lymphangioleiomyomatosis ,Neurosciences & Neurology ,GIANT-CELL ASTROCYTOMA ,Neurology (clinical) ,TSC1 ,business ,030217 neurology & neurosurgery ,Health Care Quality, Access, and Evaluation::Quality of Health Care::Health Care Evaluation Mechanisms::Data Collection::Records::Registries [HEALTH CARE] ,Rare disease - Abstract
TSC; Resource use; TOSCA TSC; Uso de recursos; TOSCA TSC; Ús de recursos; TOSCA Tuberous Sclerosis Complex (TSC) is a rare autosomal-dominant disorder caused by mutations in the TSC1 or TSC2 genes. Patients with TSC may suffer from a wide range of clinical manifestations; however, the burden of TSC and its impact on healthcare resources needed for its management remain unknown. Besides, the use of resources might vary across countries depending on the country-specific clinical practice. The aim of this paper is to describe the use of TSC-related resources and treatment paterns within the TOSCA registry. A total of 2,214 patients with TSC from 31 countries were enrolled and had a follow-up of up to 5 years. A search was conducted to identify the variables containing both medical and non-medical resource use information within TOSCA. This search was performed both at the level of the core project as well as at the level of the research projects on epilepsy, subependymal giant cell astrocytoma (SEGA), lymphangioleiomyomatosis (LAM), and renal angiomyolipoma (rAML) taking into account the timepoints of the study, age groups, and countries. Data from the quality of life (QoL) research project were analyzed by type of visit and age at enrollment. Treatments varied greatly depending on the clinical manifestation, timepoint in the study, and age groups. GAB Aergics were the most prescribed drugs for epilepsy, and mTOR inhibitors are dramatically replacing surgery in patients with SEGA, despite corrent recommendations proposing both treatment options.mTOR inhibitors are also becoming common treatments in rAML and LAMpatients. Forty-two out of the 143 patients (29.4%) who participated in the QoL research project reported inpatient stays over the last year. Data from non-medical resource use showed the critical impact of TSC on job status and capacity. Disability allowances were more common in children than adults (51.1% vs 38.2%). Psychological counseling, social services and social worker services were needed by
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- 2019
16. Newly diagnosed and growing subependymal giant cell astrocytoma in adults with tuberous sclerosis complex: results from the international TOSCA study
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Jansen, Anna C., Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, d'Amato, Lisa, d'Augeres, Guillaume Beaure, Vries, Petrus J., Ferreira, Jose C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A., Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Fattal-Valevski, Aviva, Papathanasopoulos, Panagiotis, Papavasiliou, Antigone Syrigou, Giannakodimos, Stylianos, Gatzonis, Stylianos, Pavlou, Evangelos, Tzoufi, Meropi, Vergeer, A. M. H., Dhooghe, Marc, Verhelst, Helene, Roelens, Filip, Nassogne, Marie Cecile, Defresne, Pierre, de Waele, Liesbeth, Leroy, Patricia, Demonceau, Nathalie, Legros, Benjamin, van Bogaert, Patrick, Ceulemans, Berten, Dom, Lina, Castelnau, Pierre, Martin, Anne de Saint, Riquet, Audrey, Milh, Mathieu, Cances, Claude, Pedespan, Jean-Michel, Ville, Dorothée, Roubertie, Agathe, Auvin, Stephane, Berquin, Patrick, Richelme, Christian, Allaire, Catherine, Gueden, Sophie, Tich, Sylvie Nguyen The, Godet, Bertrand, Falco Rojas, Maria Luz Ruiz, Campistol Planas, Jaume, Martinez Bermejo, Antonio, Smeyers Dura, Patricia, Roldan Aparicio, Susana, Martinez Gonzalez, Maria Jesus, Lopez Pison, Javier, Blanco Barca, Manuel Oscar, Lopez Laso, Eduardo, Alonso Luengo, Olga, Aguirre Rodriguez, Francisco Javier, Malaga Dieguez, Ignacio, Camacho Salas, Ana, Marti Carrera, Itxaso, Martinez Salcedo, Eduardo, Yoldi Petri, Maria Eugenia, Cancho Candela, Ramon, Carrilho, Ines da Conceicao, Vieira, Jose Pedro, Silva Oliveira Monteiro, Jose Paulo, Oliveira Ferreira Leao, Miguel Jorge Santos, Marceano Ribeiro Luis, Catarina Sofia, Mendonca, Carla Pires, Endziniene, Milda, Strautmanis, Jurgis, Talvik, Inga, Canevini, Maria Paola, Gambardella, Antonio, Pruna, Dario, Buono, Salvatore, Fontana, Elena, Dalla Bernardina, Bernardo, Burloiu, Carmen, Cosma, Iuliu Stefan Bacos, Vintan, Mihaela Adela, Popescu, Laura, Zitterbart, Karel, Payerova, Jaroslava, Bratsky, Ladislav, Zilinska, Zuzana, Gruber-Sedlmayr, Ursula, Baumann, Matthias, Haberlandt, Edda, Rostasy, Kevin, Pataraia, Ekaterina, Elmslie, Frances, Johnston, Clare Ann, Crawford, Pamela, Uldall, Peter, Dahlin, Maria, Uvebrant, Paul, Rask, Olof, Bjoernvold, Marit, Brodtkorb, Eylert, Sloerdahl, Andreas, Solhoff, Ragnar, Jaatun, Martine Sofie Gilje, Mandera, Marek, Radzikowska, Elzbieta Janina, Wysocki, Mariusz, Fischereder, Michael, Kurlemann, Gerhard, Wilken, Bernd, Wiemer-Kruel, Adelheid, Budde, Klemens, Marquard, Klaus, Knuf, Markus, Hahn, Andreas, Hartmann, Hans, Merkenschlager, Andreas, Trollmann, Regina, [Jansen AC] Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel VUB, Brussels, Belgium. [Belousova E] Research and Clinical Institute of Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russia. [Benedik MP] Child Neurology Department, SPS Pediatriêna Klinika, Ljubljana, Slovenia. [Carter T] Tuberous Sclerosis Association, Nottingham, United Kingdom. [Cottin V] Hôpital Louis Pradel, Claude Bernard University Lyon 1, Lyon, France. [Curatolo P] Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University Hospital, Rome, Italy. [Macaya A] Neurologia pediàtrica, Hospital Universitari Vall d’Hebron, Barcelona, Spain, Departament de Salut, Moscow Regional Research Clinical Institute (MONICA), Hôpital Louis Pradel [CHU - HCL], Hospices Civils de Lyon (HCL), Infections Virales et Pathologie Comparée - UMR 754 (IVPC), Institut National de la Recherche Agronomique (INRA)-École Pratique des Hautes Études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Association Sclérose Tubéreuse de Bourneville (Gradignan), Universitat Autònoma de Barcelona (UAB), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Service de Génétique Clinique Chromosomique et Moléculaire, Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), University Medical Center [Utrecht], Department of Neurology, University Hospital Patras, University Hospitals Leuven [Leuven], CHU de Liège, Laboratoire Angevin de Recherche en Ingénierie des Systèmes (LARIS), Université d'Angers (UA), University of Antwerp (UA), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), UMR 1253 IBrain Imagerie & Cerveau Equipe 3 'Imagerie, Biomarqueurs & Thérapie' (IBT), Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Les Hôpitaux Universitaires de Strasbourg (HUS), Service de Neuro-pédiatrie[Lille], Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), 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), Pôle Enfants [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service de neurologie pédiatrique [CHU de Bordeaux], CHU de Bordeaux Pellegrin [Bordeaux], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies (PROTECT), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), AP-HP Hôpital universitaire Robert-Debré [Paris], Groupe de Recherche sur l'Analyse Multimodale de la Fonction Cérébrale - UMR INSERM_S 1105 (GRAMFC), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de pédiatrie, Centre Hospitalier Universitaire de Nice (CHU Nice)-Hôpital l'Archet, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Service de Neurologie [Chateaulin], Centre Toul-arC'hoat, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Service de Neurologie [CHU Limoges], CHU Limoges, Lithuanian University of Health Sciences [Kaunas, Lithuania], Regional Epilepsy Center, Reggio Calabria, Innsbruck Medical University = Medizinische Universität Innsbruck (IMU), Witten/Herdecke University, St. George's Hospital, Danish Epilepsy Centre, Denmark and Aarhus University, Aarhus, Department of Pediatric Hematology and Oncology, Collegium Medicum, Nicolaus Copernicus University [Toruń], Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], The International TOSCA Study, De Waele, L, and Neurogenetics
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0301 basic medicine ,Pediatrics ,Neurology ,[SDV]Life Sciences [q-bio] ,Nervous System Diseases::Nervous System Diseases::Nervous System Diseases::Neurodegenerative Diseases::Heredodegenerative Disorders, Nervous System::Tuberous Sclerosis [DISEASES] ,tuberous sclerosis complex ,030105 genetics & heredity ,registry ,SEGA ,lcsh:RC346-429 ,RECOMMENDATIONS ,Tuberous sclerosis ,0302 clinical medicine ,Medicine and Health Sciences ,Original Research ,Esclerosi tuberosa ,TUMORS ,3. Good health ,mTOR ,medicine.symptom ,Life Sciences & Biomedicine ,Astrocitomes ,medicine.medical_specialty ,congenital, hereditary, and neonatal diseases and abnormalities ,Persons::Age Groups::Adult [NAMED GROUPS] ,Clinical Neurology ,Newly diagnosed ,Asymptomatic ,03 medical and health sciences ,medicine ,MANAGEMENT ,Adults ,In patient ,lcsh:Neurology. Diseases of the nervous system ,TOSCA ,personas::Grupos de Edad::adulto [DENOMINACIONES DE GRUPOS] ,Science & Technology ,Subependymal giant cell astrocytoma ,business.industry ,Neurosciences ,enfermedades del sistema nervioso::enfermedades del sistema nervioso::enfermedades del sistema nervioso::enfermedades neurodegenerativas::trastornos heredodegenerativos del sistema nervioso::esclerosis tuberosa [ENFERMEDADES] ,neoplasias::neoplasias por tipo histológico::neoplasias de células germinales y embrionarias::tumores neuroectodérmicos::neoplasias neuroepiteliales::glioma::astrocitoma [ENFERMEDADES] ,medicine.disease ,Clinical neurology ,nervous system diseases ,Neoplasms::Neoplasms by Histologic Type::Neoplasms, Germ Cell and Embryonal::Neuroectodermal Tumors::Neoplasms, Neuroepithelial::Glioma::Astrocytoma [DISEASES] ,REGISTRY ,Neurosciences & Neurology ,Neurology (clinical) ,TSC2 ,business ,030217 neurology & neurosurgery - Abstract
SEGA; TOSCA; Tuberous sclerosis complex SEGA; TOSCA; Complex d’esclerosi tuberosa SEGA; TOSCA; Complejo de esclerosis tuberosa The onset and growth of subependymal giant cell astrocytoma (SEGA) in tuberous sclerosis complex (TSC) typically occurs in childhood. There is minimal information on SEGA evolution in adults with TSC. Of 2,211 patients enrolled in TOSCA, 220 of the 803 adults (27.4%) ever had a SEGA. Of 186 patients with SEGA still ongoing in adulthood, 153 (82.3%) remained asymptomatic, and 33 (17.7%) were reported to ever have developed symptoms related to SEGA growth. SEGA growth since the previous scan was reported in 39 of the 186 adults (21%) with ongoing SEGA. All but one patient with growing SEGA had mutations in TSC2. Fourteen adults (2.4%) were newly diagnosed with SEGA during follow-up, and majority had mutations in TSC2. Our findings suggest that surveillance for new or growing SEGA is warranted also in adulthood, particularly in patients with mutations in TSC2. The study was funded by Novartis Pharma AG.
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- 2019
17. Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex
- Author
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Karas, Antonina, Jiang, yuwu, Zou, Liping, Xu, Kaifeng, Zhang, yushi, Luan, Guoming, Zhang, yuqin, Wang, yi, Jin, Meiling, ye, Dingwei, Liao, Weiping, Zhou, Liemin, Liu, Jie, Liao, Jianxiang, yan, Bo, Deng, yanchun, Jiang, Li, Liu, Zhisheng, Huang, Shaoping, Li, Hua, Kim, Kijoong, Chen, Pei-Lung, Lee, Hsiu-Fen, Tsai, Jeng-Dau, Chi, Ching-Shiang, Huang, Chao-Ching, Riney, Kate, yates, Deborah, Kwan, Patrick, Likasitwattanakul, Surachai, Nabangchang, Charcrin, Chomtho, Lunliya Thampratankul Krisnachai, Katanyuwong, Kamornwan, Sriudomkajorn, Somjit, Wilmshurst, Jo, Segel, Reeval, Gilboa, Tal, Tzadok, Michal, Fattal-Valevski, Aviva, Papathanasopoulos, Panagiotis, Papavasiliou, Antigone Syrigou, Giannakodimos, Stylianos, Gatz, Stylianos, Pavlou, Evangelos, Tzoufi, Meropi, Vergeer, A. M. H., Dhooghe, Marc, Verhelst, Helene, Roelens, Filip, Nassogne, Marie Cecile, Defresne, Pierre, de Waele, Liesbeth, Leroy, Patricia, Demonceau, Nathalie, Legros, Benjamin, van Bogaert, Patrick, Ceulemans, Berten, Dom, Lina, Castelnau, Pierre, Martin, Anne de St, Riquet, Audrey, Milh, Mathieu, Cances, Claude, Pedespan, Jean-Michel, Ville, Dorothee, Roubertie, Agathe, Auvin, Stephane, Berquin, Patrick, Richelme, Christian, Allaire, Catherine, Gueden, Sophie, Tich, Sylvie Nguyen The, Godet, Bertrand, Rojas, Maria Luz Ruiz Falco, Planas, Jaume Campistol, Bermejo, Antonio Martinez, Dura, Patricia Smeyers, Aparicio, Susana Roldan, Gonzalez, Maria Jesus Martinez, Pison, Javier Lopez, Barca, Manuel Oscar Blanco, Laso, Eduardo Lopez, Luengo, Olga Alonso, Rodriguez, Francisco Javier Aguirre, Dieguez, Ignacio Malaga, Salas, Ana Camacho, Carrera, Itxaso Marti, Salcedo, Eduardo Martinez, Petri, Maria Eugenia yoldi, Candela, Ramon Cancho, Carrilho, Ines da Conceicao, Vieira, Jose Pedro, Monteiro, Jose Paulo da Silva Oliveira, Leao, Miguel Jorge Santos de Oliveira Ferreira, Luis, Catarina Sofia Marceano Ribeiro, Mendonca, Carla Pires, Endziniene, Milda, Strautmanis, Jurgis, Talvik, Inga, Canevini, Maria Paola, Gambardella, Antonio, Pruna, Dario, Buono, Salvatore, Fontana, Elena, Dalla Bernardina, Bernardo, Burloiu, Carmen, Cosma, Iuliu Stefan Bacos, Vintan, Mihaela Adela, Popescu, Laura, Zitterbart, Karel, Payerova, Jaroslava, Bratsky, Ladislav, Zilinska, Zuzana, Gruber-Sedlmayr, Ursula, Baumann, Matthias, Haberland, Edda, Rostasy, Kevin, Pataraia, Ekaterina, Elmslie, Frances, Johnston, Clare Ann, Crawford, Pamela, Uldall, Peter, Uvebrant, Paul, Rask, Olof, Bjoernvold, Marit, Brodtkorb, Eylert, Sloerdahl, Andreas, Solhoff, Ragnar, Jaatun, Martine Sofie Gilje, Mandera, Marek, Radzikowska, Elzbieta Janina, Wysocki, Mariusz, Fischereder, Michael, Kurlemann, Gerhard, Wilken, Bernd, Wiemer-Kruel, Adelheid, Budde, Klemens, Marquard, Klaus, Knuf, Markus, Hahn, Andreas, Hartmann, Hans, Merkenschlager, Andreas, Trollmann, Regina, Jansen, Anna C., Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, d'Amato, Lisa, d'Augeres, Guillaume Beaure, Vries, Petrus J., Ferreira, Jose C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A., Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, yukitoshi, Touraine, Renaud, youroukos, Sotiris, Zonnenberg, Bernard, Kingswood, John C., Shinohara, Nobuo, Horie, Shigeo, Kubota, Masaya, Tohyama, Jun, Imai, Katsumi, Kaneda, Mari, Kaneko, Hideo, Uchida, yasushi, Kirino, Tomoko, Endo, Shoichi, Inoue, yoshikazu, Uruno, Katsuhisa, Serdaroglu, Ayse, yapici, Zuhal, Anlar, Banu, Altunbasak, Sakir, Lvova, Olga, Belyaev, Oleg Valeryevich, Agranovich, Oleg, Levitina, Elena Vladislavovna, Maksimova, yulia Vladimirovna, Johns Hopkins University (JHU), Fudan University [Shanghai], EED, University of California [Los Angeles] (UCLA), University of California-University of California, Chimie pour la Reconnaissance et l’Etude d’Assemblages Biologiques (CREAB), SYstèmes Moléculaires et nanoMatériaux pour l’Energie et la Santé (SYMMES), Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), 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)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Département Interfaces pour l'énergie, la Santé et l'Environnement (DIESE), Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), College of Computing (GATECH), Georgia Institute of Technology [Atlanta], Institute for Human Genetics, Safra Children's Hospital, Department of Neurology, University Hospital Patras, University Hospitals Leuven [Leuven], CHU de Liège, Laboratoire Angevin de Recherche en Ingénierie des Systèmes (LARIS), Université d'Angers (UA), University of Antwerp (UA), Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Service de Neuro-pédiatrie[Lille], Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), 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 Pédiatrie [CHU Toulouse], CHU Toulouse [Toulouse], Service de neurologie pédiatrique [CHU de Bordeaux], CHU de Bordeaux Pellegrin [Bordeaux], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies (PROTECT), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Groupe de Recherche sur l'Analyse Multimodale de la Fonction Cérébrale - UMR INSERM_S 1105 (GRAMFC), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de pédiatrie, Centre Hospitalier Universitaire de Nice (CHU Nice)-Hôpital l'Archet, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Service de Neurologie [Chateaulin], Centre Toul-arC'hoat, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Service de Neurologie [CHU Limoges], CHU Limoges, Lithuanian University of Health Sciences [Kaunas, Lithuania], Regional Epilepsy Center, Reggio Calabria, Innsbruck Medical University [Austria] (IMU), Witten/Herdecke University, St. George's Hospital, Danish Epilepsy Centre, Denmark and Aarhus University, Aarhus, Department of Pediatric Hematology and Oncology, Collegium Medicum, Nicolaus Copernicus University [Toruń], Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Moscow Regional Research Clinical Institute (MONICA), Infections Virales et Pathologie Comparée - UMR 754 (IVPC), Institut National de la Recherche Agronomique (INRA)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Universitat Autònoma de Barcelona (UAB), CHU Necker - Enfants Malades [AP-HP], Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPC), Service de Génétique Clinique Chromosomique et Moléculaire, CHU Saint-Etienne-Hôpital Nord - Saint-Etienne, Department of Clinical Genetics, Physiotherapy, Human Physiology and Anatomy, Pediatrics, Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics, De Waele, L, University of California (UC)-University of California (UC), UMR 1253 IBrain Imagerie & Cerveau Equipe 3 'Imagerie, Biomarqueurs & Thérapie' (IBT), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Pôle Enfants [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Innsbruck Medical University = Medizinische Universität Innsbruck (IMU), Institut National de la Recherche Agronomique (INRA)-École Pratique des Hautes Études (EPHE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), [Jansen AC] Pediatric Neurology Unit, Department of Pediatrics, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium. [Belousova E] Research and Clinical Institute of Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russia. [Benedik MP] Child Neurology Department, SPS Pediatriêna Klinika, Ljubljana, Slovenia. [Carter T] Tuberous Sclerosis Association, Nottingham, United Kingdom. [Cottin V] Hôpital Louis Pradel, Claude Bernard University Lyon 1, Lyon, France. [Curatolo P] Child Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University Hospital, Rome, Italy. [Macaya A] Neurologia pediàtrica, Hospital Universitari Vall d’Hebron, Barcelona, Spain., and Vall d'Hebron Barcelona Hospital Campus
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Quinases ,Pediatrics ,enzimas y coenzimas::enzimas::transferasas::fosfotransferasas::fosfotransferasas (grupo alcohol aceptor)::proteína cinasas::proteína-serina-treonina cinasas::TOR serina-treonina cinasas [COMPUESTOS QUÍMICOS Y DROGAS] ,Angiomyolipoma ,Neurology ,[SDV]Life Sciences [q-bio] ,CHILDREN ,tuberous sclerosis complex ,registry ,Neoplasms::Neoplasms by Histologic Type::Neoplasms::Neoplasms by Histologic Type::Neoplasms, Glandular and Epithelial::Neoplasms, Neuroepithelial::Glioma::Neoplasms::Neoplasms by Histologic Type::Astrocytoma [DISEASES] ,SEGA ,RECOMMENDATIONS ,DISEASE ,lcsh:RC346-429 ,Tuberous sclerosis ,DOUBLE-BLIND ,0302 clinical medicine ,EVEROLIMUS ,neoplasias::hamartoma::esclerosis tuberosa [ENFERMEDADES] ,Medicine and Health Sciences ,030212 general & internal medicine ,Original Research ,Intracranial pressure ,Esclerosi tuberosa ,3. Good health ,medicine.anatomical_structure ,mTOR ,Astrocitomes ,Life Sciences & Biomedicine ,medicine.drug ,medicine.medical_specialty ,Clinical Neurology ,DIAGNOSIS ,03 medical and health sciences ,medicine ,MANAGEMENT ,TOSCA ,lcsh:Neurology. Diseases of the nervous system ,Everolimus ,Science & Technology ,Subependymal giant cell astrocytoma ,business.industry ,ANGIOMYOLIPOMA ,neoplasias::neoplasias por tipo histológico::neoplasias::neoplasias por tipo histológico::neoplasias glandulares y epiteliales::neoplasias neuroepiteliales::glioma::neoplasias::neoplasias por tipo histológico::astrocitoma [ENFERMEDADES] ,Neurosciences ,medicine.disease ,SEVERITY ,Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Alcohol Group Acceptor)::Protein Kinases::Protein-Serine-Threonine Kinases::TOR Serine-Threonine Kinases [CHEMICALS AND DRUGS] ,Neurology (clinical) ,TSC1 ,Neurosciences & Neurology ,TSC2 ,business ,030217 neurology & neurosurgery ,Neoplasms::Hamartoma::Tuberous Sclerosis [DISEASES] - Abstract
SEGA; TOSCA; Tuberous sclerosis complex SEGA; TOSCA; Complejo de esclerosis tuberosa SEGA; TOSCA; Complex d'esclerosi tuberosa Background: This study evaluated the characteristics of subependymal giant cell astrocytoma (SEGA) in patients with tuberous sclerosis complex (TSC) entered into the TuberOus SClerosis registry to increase disease Awareness (TOSCA). Methods: The study was conducted at 170 sites across 31 countries. Data from patients of any age with a documented clinical visit for TSC in the 12 months preceding enrollment or those newly diagnosed with TSC were entered. Results: SEGA were reported in 554 of 2,216 patients (25%). Median age at diagnosis of SEGA was 8 years (range, 18 years. SEGA were symptomatic in 42.1% of patients. Symptoms included increased seizure frequency (15.8%), behavioural disturbance (11.9%), and regression/loss of cognitive skills (9.9%), in addition to those typically associated with increased intracranial pressure. SEGA were significantly more frequent in patients with TSC2 compared to TSC1 variants (33.7 vs. 13.2 %, p < 0.0001). Main treatment modalities included surgery (59.6%) and mammalian target of rapamycin (mTOR) inhibitors (49%). Conclusions: Although SEGA diagnosis and growth typically occurs during childhood, SEGA can occur and grow in both infants and adults. The study was funded by Novartis Pharma AG. Novartis has contributed to the study design, data analysis, and the decision to publish. Novartis authors reviewed the draft for submission.
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- 2019
18. Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex
- Author
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Jansen, Anna C. Belousova, Elena Benedik, Mirjana P. Carter, Tom Cottin, Vincent Curatolo, Paolo Dahlin, Maria and D'Amato, Lisa d'Augeres, Guillaume Beaure de Vries, Petrus J. and Ferreira, Jose C. Feucht, Martha Fladrowski, Carla and Hertzberg, Christoph Jozwiak, Sergiusz Lawson, John A. and Macaya, Alfons Marques, Ruben Nabbout, Rima O'Callaghan, Finbar Qin, Jiong Sander, Valentin Sauter, Matthias and Shah, Seema Takahashi, Yukitoshi Touraine, Renaud Youroukos, Sotiris Zonnenberg, Bernard Kingswood, John C. Shinohara, Nobuo Horie, Shigeo Kubota, Masaya Tohyama, Jun Imai, Katsumi Kaneda, Mari Kaneko, Hideo Uchida, Yasushi and Kirino, Tomoko Endo, Shoichi Inoue, Yoshikazu Uruno, Katsuhisa Serdaroglu, Ayse Yapici, Zuhal Anlar, Banu and Altunbasak, Sakir Lvova, Olga Belyaev, Oleg Valeryevich and Agranovich, Oleg Levitina, Elena Vladislavovna Maksimova, Yulia Vladimirovna Karas, Antonina Jiang, Yuwu Zou, Liping Xu, Kaifeng Zhang, Yushi Luan, Guoming Zhang, Yuqin Wang, Yi and Jin, Meiling Ye, Dingwei Liao, Weiping Zhou, Liemin and Liu, Jie Liao, Jianxiang Yan, Bo Deng, Yanchun Jiang, Li and Liu, Zhisheng Huang, Shaoping Li, Hua Kim, Kijoong and Chen, Pei-Lung Lee, Hsiu-Fen Tsai, Jeng-Dau Chi, Ching-Shiang Huang, Chao-Ching Riney, Kate Yates, Deborah and Kwan, Patrick Likasitwattanakul, Surachai Nabangchang, Charcrin Chomtho, Lunliya Thampratankul Krisnachai Katanyuwong, Kamornwan Sriudomkajorn, Somjit Wilmshurst, Jo Segel, Reeval and Gilboa, Tal Tzadok, Michal Fattal-Valevski, Aviva and Papathanasopoulos, Panagiotis Papavasiliou, Antigone Syrigou and Giannakodimos, Stylianos Gatz, Stylianos Pavlou, Evangelos and Tzoufi, Meropi Vergeer, A. M. H. Dhooghe, Marc Verhelst, Helene Roelens, Filip Nassogne, Marie Cecile Defresne, Pierre De Waele, Liesbeth Leroy, Patricia Demonceau, Nathalie Legros, Benjamin Van Bogaert, Patrick Ceulemans, Berten Dom, Lina Castelnau, Pierre Martin, Anne De St and Riquet, Audrey Milh, Mathieu Cances, Claude Pedespan, Jean-Michel Ville, Dorothee Roubertie, Agathe Auvin, Stephane Berquin, Patrick Richelme, Christian Allaire, Catherine Gueden, Sophie Tich, Sylvie Nguyen The Godet, Bertrand Rojas, Maria Luz Ruiz Falco Planas, Jaume Campistol and Bermejo, Antonio Martinez Dura, Patricia Smeyers Aparicio, Susana Roldan Gonzalez, Maria Jesus Martinez Pison, Javier Lopez and Barca, Manuel Oscar Blanco Laso, Eduardo Lopez Luengo, Olga Alonso Rodriguez, Francisco Javier Aguirre Dieguez, Ignacio Malaga Salas, Ana Camacho Carrera, Itxaso Marti Salcedo, Eduardo Martinez Petri, Maria Eugenia Yoldi Candela, Ramon Cancho Carrilho, Ines da Conceicao Vieira, Jose Pedro and Monteiro, Jose Paulo da Silva Oliveira Leao, Miguel Jorge Santos de Oliveira Ferreira Luis, Catarina Sofia Marceano Ribeiro and Mendonca, Carla Pires Endziniene, Milda Strautmanis, Jurgis and Talvik, Inga Canevini, Maria Paola Gambardella, Antonio and Pruna, Dario Buono, Salvatore Fontana, Elena Dalla Bernardina, Bernardo Burloiu, Carmen Cosma, Iuliu Stefan Bacos and Vintan, Mihaela Adela Popescu, Laura Zitterbart, Karel and Payerova, Jaroslava Bratsky, Ladislav Zilinska, Zuzana and Gruber-Sedlmayr, Ursula Baumann, Matthias Haberland, Edda and Rostasy, Kevin Pataraia, Ekaterina Elmslie, Frances and Johnston, Clare Ann Crawford, Pamela Uldall, Peter Uvebrant, Paul Rask, Olof Bjoernvold, Marit Brodtkorb, Eylert and Sloerdahl, Andreas Solhoff, Ragnar Jaatun, Martine Sofie Gilje and Mandera, Marek Radzikowska, Elzbieta Janina Wysocki, Mariusz and Fischereder, Michael Kurlemann, Gerhard Wilken, Bernd and Wiemer-Kruel, Adelheid Budde, Klemens Marquard, Klaus Knuf, Markus Hahn, Andreas Hartmann, Hans Merkenschlager, Andreas and Trollmann, Regina TOSCA Consortium TOSCA Investigators
- Abstract
Background: This study evaluated the characteristics of subependymal giant cell astrocytoma (SEGA) in patients with tuberous sclerosis complex (TSC) entered into the TuberOus SClerosis registry to increase disease Awareness (TOSCA). Methods: The study was conducted at 170 sites across 31 countries. Data from patients of any age with a documented clinical visit for TSC in the 12 months preceding enrollment or those newly diagnosed with TSC were entered. Results: SEGA were reported in 554 of 2,216 patients (25%). Median age at diagnosis of SEGA was 8 years (range, 18 years. SEGA were symptomatic in 42.1% of patients. Symptoms included increased seizure frequency (15.8%), behavioural disturbance (11.9%), and regression/loss of cognitive skills (9.9%), in addition to those typically associated with increased intracranial pressure. SEGA were significantly more frequent in patients with TSC2 compared to TSC1 variants (33.7 vs. 13.2 %, p < 0.0001). Main treatment modalities included surgery (59.6%) and mammalian target of rapamycin (mTOR) inhibitors (49%). Conclusions: Although SEGA diagnosis and growth typically occurs during childhood, SEGA can occur and grow in both infants and adults.
- Published
- 2019
19. Nusinersen chez l’enfant : évolution ou révolution ?
- Author
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Richelme, Christian, primary
- Published
- 2019
- Full Text
- View/download PDF
20. Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in ACAD9 ‐deficient mild myopathy
- Author
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Fragaki, Konstantina, primary, Chaussenot, Annabelle, additional, Boutron, Audrey, additional, Bannwarth, Sylvie, additional, Cochaud, Charlotte, additional, Richelme, Christian, additional, Sacconi, Sabrina, additional, and Paquis‐Flucklinger, Veronique, additional
- Published
- 2017
- Full Text
- View/download PDF
21. Neurodevelopmental and immunological features in a child presenting 22q13.2 microdeletion
- Author
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Thümmler, Susanne, primary, Giuliano, Fabienne, additional, Karmous‐Benailly, Houda, additional, Richelme, Christian, additional, Fernandez, Arnaud, additional, De Georges, Christine, additional, and Askenazy, Florence, additional
- Published
- 2015
- Full Text
- View/download PDF
22. NDUFS6related Leigh syndrome: a case report and review of the literature
- Author
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Rouzier, Cécile, Chaussenot, Annabelle, Fragaki, Konstantina, Serre, Valérie, Ait-El-Mkadem, Samira, Richelme, Christian, Paquis-Flucklinger, Véronique, and Bannwarth, Sylvie
- Abstract
The genetic causes of Leigh syndrome are heterogeneous, with a poor genotype–phenotype correlation. To date, more than 50 nuclear genes cause nuclear gene-encoded Leigh syndrome. NDUFS6encodes a 13 kiloDaltons subunit, which is part of the peripheral arm of complex I and is localized in the iron-sulfur fraction. Only a few patients were reported with proven NDUFS6pathogenic variants and all presented with severe neonatal lactic acidemia and complex I deficiency, leading to death in the first days of life. Here, we present a patient harboring two NDUFS6variants with a phenotype compatible with Leigh syndrome. Although most of previous reports suggested that NDUFS6pathogenic variants invariably lead to early neonatal death, this report shows that the clinical spectrum could be larger. We found a severe decrease of NDUFS6 protein level in patient’s fibroblasts associated with a complex I assembly defect in patient’s muscle and fibroblasts. These data confirm the importance of NDUFS6 and the Zn-finger domain for a correct assembly of complex I.
- Published
- 2019
- Full Text
- View/download PDF
23. Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort
- Author
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Rouzier, Cécile, primary, Chaussenot, Annabelle, additional, Serre, Valérie, additional, Fragaki, Konstantina, additional, Bannwarth, Sylvie, additional, Ait-El-Mkadem, Samira, additional, Attarian, Shahram, additional, Kaphan, Elsa, additional, Cano, Aline, additional, Delmont, Emilien, additional, Sacconi, Sabrina, additional, de Camaret, Bénédicte Mousson, additional, Rio, Marlène, additional, Lebre, Anne-Sophie, additional, Jardel, Claude, additional, Deschamps, Romain, additional, Richelme, Christian, additional, Pouget, Jean, additional, Chabrol, Brigitte, additional, and Paquis-Flucklinger, Véronique, additional
- Published
- 2013
- Full Text
- View/download PDF
24. Motor and respiratory heterogeneity in Duchenne patients: Implication for clinical trials
- Author
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Humbertclaude, Véronique, primary, Hamroun, Dalil, additional, Bezzou, Kamel, additional, Bérard, Carole, additional, Boespflug-Tanguy, Odile, additional, Bommelaer, Christine, additional, Campana-Salort, Emmanuelle, additional, Cances, Claude, additional, Chabrol, Brigitte, additional, Commare, Marie-Christine, additional, Cuisset, Jean-Marie, additional, de Lattre, Capucine, additional, Desnuelle, Claude, additional, Echenne, Bernard, additional, Halbert, Cécile, additional, Jonquet, Olivier, additional, Labarre-Vila, Annick, additional, N’Guyen-Morel, Marie-Ange, additional, Pages, Michel, additional, Pepin, Jean-Louis, additional, Petitjean, Thierry, additional, Pouget, Jean, additional, Ollagnon-Roman, Elisabeth, additional, Richelme, Christian, additional, Rivier, François, additional, Sacconi, Sabrina, additional, Tiffreau, Vincent, additional, Vuillerot, Carole, additional, Picot, Marie-Christine, additional, Claustres, Mireille, additional, Béroud, Christophe, additional, and Tuffery-Giraud, Sylvie, additional
- Published
- 2012
- Full Text
- View/download PDF
25. Erratum: Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay
- Author
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Naïmi, Mourad, primary, Bannwarth, Sylvie, additional, Procaccio, Vincent, additional, Pouget, Jean, additional, Desnuelle, Claude, additional, Pellissier, Jean-François, additional, Rötig, Agnes, additional, Munnich, Arnold, additional, Calvas, Patrick, additional, Richelme, Christian, additional, Jonveaux, Philippe, additional, Castelnovo, Giovanni, additional, Simon, Mariella, additional, Clanet, Michel, additional, Wallace, Douglas, additional, and Paquis-Flucklinger, Véronique, additional
- Published
- 2007
- Full Text
- View/download PDF
26. Foreword
- Author
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Evrard, Philippe, primary, Tardieu, Marc, additional, Richelme, Christian, additional, Cioni, Giovanni, additional, Bax, Martin, additional, and Baxter, Peter, additional
- Published
- 2007
- Full Text
- View/download PDF
27. Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay
- Author
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Naïmi, Mourad, primary, Bannwarth, Sylvie, additional, Procaccio, Vincent, additional, Pouget, Jean, additional, Desnuelle, Claude, additional, Pellissier, Jean-François, additional, Rötig, Agnes, additional, Munnich, Arnold, additional, Calvas, Patrick, additional, Richelme, Christian, additional, Jonveaux, Philippe, additional, Castelnovo, Giovanni, additional, Simon, Melvin, additional, Clanet, Michel, additional, Wallace, Douglas, additional, and Paquis-Flucklinger, Véronique, additional
- Published
- 2006
- Full Text
- View/download PDF
28. Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.
- Author
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Rouzier, Cécile, Chaussenot, Annabelle, Serre, Valérie, Fragaki, Konstantina, Bannwarth, Sylvie, Ait-El-Mkadem, Samira, Attarian, Shahram, Kaphan, Elsa, Cano, Aline, Delmont, Emilien, Sacconi, Sabrina, de Camaret, Bénédicte Mousson, Rio, Marlène, Lebre, Anne-Sophie, Jardel, Claude, Deschamps, Romain, Richelme, Christian, Pouget, Jean, Chabrol, Brigitte, and Paquis-Flucklinger, Véronique
- Subjects
MITOCHONDRIAL pathology ,POLYMERASE genetics ,GENETIC mutation ,NUCLEOTIDE sequence ,POLYMERASE chain reaction ,COHORT analysis ,GENETICS - Abstract
Polymerase gamma (POLG) is the gene most commonly involved in mitochondrial disorders with mitochondrial DNA instability and causes a wide range of diseases with recessive or dominant transmission. More than 170 mutations have been reported. Most of them are missense mutations, although nonsense mutations, splice-site mutations, small deletions and insertions have also been identified. However, to date, only one large-scale rearrangement has been described in a child with Alpers syndrome. Below, we report a large cohort of 160 patients with clinical, molecular and/or biochemical presentation suggestive of POLG deficiency. Using sequencing, we identified POLG variants in 22 patients (18 kindreds) including five novel pathogenic mutations. Two patients with novel mutations had unusual clinical presentation: the first exhibited an isolated ataxic neuropathy and the second was a child who presented with endocrine signs. We completed the sequencing step by quantitative multiplex PCR of short fluorescent fragments (QMPSF) analysis in 37 patients with either only one POLG heterozygous variant or a family history suggesting a dominant transmission. We identified a large intragenic deletion encompassing part of intron 21 and exon 22 of POLG in a child with refractory epilepsia partialis continua. In conclusion, we describe the first large French cohort of patients with POLG mutations, expanding the wide clinical and molecular spectrum observed in POLG disease. We confirm that large deletions in the POLG gene are rare events and we highlight the importance of QMPSF in patients with a single heterozygous POLG mutation, particularly in severe infantile phenotypes. [ABSTRACT FROM AUTHOR]
- Published
- 2014
- Full Text
- View/download PDF
29. Acute basal ganglia necrosis associated with cytarabine therapy
- Author
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Sirvent, Nicolas, primary, Monpoux, Fabrice, additional, Benet, Laurent, additional, Richelme, Christian, additional, Mariani, Roger, additional, and Diaine, Bernard, additional
- Published
- 1998
- Full Text
- View/download PDF
30. Long latency event-related potentials (P300) in gifted children
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Martin, Florence, primary, Delpont, Eric, additional, Suisse, Georges, additional, Richelme, Christian, additional, and Dolisi, Claude, additional
- Published
- 1993
- Full Text
- View/download PDF
31. The Germinative Zone Produces the Most Cortical Astrocytes after Neuronal Migration in the Developing Mammalian Brain
- Author
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Gressens, Pierre, primary, Richelme, Christian, additional, Kadhim, Hazim J., additional, Gadisseux, Jean-François, additional, and Evrard, Philippe, additional
- Published
- 1992
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- View/download PDF
32. The Young Adult Human Brain: An MRI-based Morphometric Analysis.
- Author
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Filipek, Pauline A., Richelme, Christian, Kennedy, David N., and Caviness, Verne S.
- Published
- 1994
33. The Germinative Zone Produces the Most Cortical Astrocytes after Neuronal Migration in the Developing Mammalian Brain
- Author
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Gressens, Pierre, Richelme, Christian, Kadhim, Hazim J., Gadisseux, Jean-François, and Evrard, Philippe
- Abstract
The origin of astrocytes of the mouse neocortex during the fetal and early postnatal periods as determined by immunocytological, autoradiographic, electron microscopic and antimitotic methods is described. Most astrocytes destined for the white matter and the infragranular cortical layers are derived from the transformation of radial glial cells between P0 and P10 with an inside-out pattern. This cell metamorphosis is not directly preceded by mitosis and involves the activation of the radial glial lysosomal apparatus. In opposition to recent hypotheses, our findings suggest that most astroyctes destined for the supragranular cortical layers are produced in the germinative zone after the migration of the infragranular neurons and themselves migrate afterwards to the upper cortex between E16 and the first postnatal days. These astrocytes do not display an intermediate stage of the radial glial cell and do not participate in the pattern of appearance of the deeper astrocytes. This second step of astrocytogenesis is a condition for normal cytoarchitectonic development and the maintenance of the supragranular layers, since the deprivation of the astrocytic equipment of the supragranular layers by an antimitotic drug drastically reduces the number of supragranular neurons.
- Published
- 1992
- Full Text
- View/download PDF
34. Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
- Author
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Naïmi, Mourad, Bannwarth, Sylvie, Procaccio, Vincent, Pouget, Jean, Desnuelle, Claude, Pellissier, Jean-François, Rötig, Agnes, Munnich, Arnold, Calvas, Patrick, Richelme, Christian, Jonveaux, Philippe, Castelnovo, Giovanni, Simon, Mariella, Clanet, Michel, Wallace, Douglas, and Paquis-Flucklinger, Véronique
- Subjects
MITOCHONDRIAL DNA - Abstract
A correction to the article "Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay" that was published in a previous issue of the periodical is presented.
- Published
- 2007
- Full Text
- View/download PDF
35. Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations.
- Author
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Dufour, Louis, Keren, Boris, Nava, Caroline, Depienne, Christel, Marzin, Pauline, Mignot, Cyril, Heron, Delphine, Penniello, Marie-José, Milh, Mathieu, Villard, Laurent, Richelme, Christian, Rivier, Clotilde, Whalen, Sandra, Doummar, Diane, Lesca, Gaëtan, Nougues, Marie-Christine, Dorison, Nathalie, Ville, Dorothée, Kaminska, Anna, and Panagiotakaki, Eleni
- Subjects
- *
BRAIN diseases , *MOVEMENT disorders , *EPILEPSY , *HEMIPLEGIA , *GENETIC testing - Abstract
Objective Heterozygous mutations in the ATP1A3 gene are responsible for various neurological disorders, ranging from early-onset alternating hemiplegia of childhood to adult-onset dystonia-parkinsonism. Next generation sequencing allowed the description of other phenotypes, including early-onset epileptic encephalopathy in two patients. We report on three more patients carrying ATP1A3 mutations with a close phenotype and discuss the relationship of this phenotype to alternating hemiplegia of childhood. Methods The patients’ DNA underwent next generation sequencing. A retrospective analysis of clinical case records is reported. Results Each of the three patients had an unreported heterozygous de novo sequence variant in ATP1A3 . These patients shared a similar phenotype characterized by early-onset attacks of movement disorders, some of which proved to be epileptic, and severe developmental delay. (Hemi)plegic attacks had not been considered before genetic testing. Significance Together with the two previously reported cases, our patients confirm that ATP1A3 mutations are associated with a phenotype combining features of early-onset encephalopathy, epilepsy and dystonic fits, as in the most severe forms of alternating hemiplegia of childhood, but in which (hemi)plegic attacks are absent or only suspected retrospectively. [ABSTRACT FROM AUTHOR]
- Published
- 2018
- Full Text
- View/download PDF
36. Beneficial effect of oral creatine intake in the case of 'Vacuolating megalencephalopathy with subcortical cysts'
- Author
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Mejaški-Bošnjak, Vlatka, Fumić, Ksenija, Bešenski, Nada, Hanefeld, Folker, Wilken B, Frahm Jens, Evrard, Philippe, Richelme, Christian, and Tardieu, Marc
- Subjects
Creatine ,Megalencephalic leukoencephalopathy - Abstract
We report on 7 years old boy with "Vacuolating megalencephalopathy with subcortical cysts" (van der Knaap 1995) who recived oral creatine 2g twice a day for two years. The boy had clinical, neurophychiological and MRI/MRS assessment at age of 5 yrs, showing at neurological examination mild ataxia, brisk tendon reflexes with ankle clonus, swallowing problems and dysarthric speech, as well as marked macrocephaly. Proton MRS examination showed reduced spectra of N-acetyl aspartic acid and creatine within altered white matter indicating axonal pathology and loss. Afterwords oral intake of creatine was started and continued onwards. At the age of 7 years the boy underwent MRI/MRS reexamination showing ameliorate findings which was in accordance with his intellectual prosgress and regression of some deviant neurological signs as well as stabilization of head growth.
- Published
- 1999
37. Neurodevelopmental outcome of children with perinatal unilateral central nervous system lesion
- Author
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Rešić, Biserka, Mejaški-Bošnjak, Vlatka, Rešić, Nives, Tomasović, Maja, Čulić, Vida, Čulić, Srđana, Evrard, Philippe, Richelme, Christian, and Tardieu, Marc
- Subjects
unilateral central nervous system lesion ,perinatal brain damage ,neurodevelopmental outome ,brain ultrasound - Abstract
Neurodevelopmental outcome of children with perinatal unilateral central nervous system lesion (UCNSL) was compared wuth children with perinatal bilateral CNS lesion (BCNSL) diagnosed by ultrasound examinations. It had been selected 76 newborns with UCNSL diagnosed in the first 15 days of life. Unilateral intracranial haemorrhage (ICH) was established in 44 (5.9%) of examined children. Ultrasonical diagnosed periventricular leudomalatia and ICH was in 15 (19.7%) babies. Isolated hypoxical-ischemical lesions had 9 (11.8%). Three children had congenital unilateral porencehalic cavities and 5 had congenital unilateral hydrocephalus. We compared neurodevelopmental outcome in these children with neurodevelopmental outcome of children with BCNSL. There is statistical significance for higher percentage of epilepsy, speech delay, intellectual development and cerebral palsy in BCNSL in comparasion to UCNSL.
- Published
- 1999
38. [Nusinersen in SMA children: evolution or revolution? - Clinical use of innovative, repurposed or off-label therapies: a real life experience (2)].
- Author
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Richelme C
- Subjects
- Child, Child, Preschool, Humans, Infant, Infant, Newborn, Practice Patterns, Physicians' trends, Drug Repositioning trends, Off-Label Use, Oligonucleotides therapeutic use, Pediatrics trends, Spinal Muscular Atrophies of Childhood drug therapy, Therapies, Investigational methods
- Published
- 2019
- Full Text
- View/download PDF
39. [Convulsions in the infant and child].
- Author
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Richelme C and Mazzuca M
- Subjects
- Child, Child Welfare, Child, Preschool, Diagnosis, Differential, Humans, Infant, Infant Welfare, Infant, Newborn, Patient Care Planning, Prognosis, Risk Factors, Seizures drug therapy, Seizures pathology, Anticonvulsants therapeutic use, Seizures etiology
- Published
- 2002
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