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ArticlesPeer ReviewedFull Text
NDUFS6 related Leigh syndrome: a case report and review of the literature
Author / Creator:Rouzier, Cécile ; Chaussenot, Annabelle ; Fragaki, Konstantina ; Serre, Valérie ; Ait-El-Mkadem, Samira ; Richelme, Christian ; Paquis-Flucklinger, Véronique ; Bannwarth, Sylvie
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2019-07, Vol.64 (7), p.637-645
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Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study
Author / Creator:Audic, Frédérique ; de la Banda, Marta Gomez Garcia ; Bernoux, Delphine ; Ramirez-Garcia, Paola ; Durigneux, Julien ; Barnerias, Christine ; Isapof, Arnaud ; Cuisset, Jean-Marie ; Cances, Claude ; Richelme, Christian ; Vuillerot, Carole ; Laugel, Vincent ; Ropars, Juliette ; Altuzarra, Cécilia ; Espil-Taris, Caroline ; Walther-Louvier, Ulrike ; Sabouraud, Pascal ; Chouchane, Mondher ; Vanhulle, Catherine ; Trommsdorff, Valérie ; Pervillé, Anne ; Testard, Hervé ; Lagrue, Emmanuelle ; Sarret, Catherine ; Avice, Anne-Laude ; Beze-Beyrie, Pierre ; Pauly, Vanessa ; Quijano-Roy, Susana ; Chabrol, Brigitte ; Desguerre, Isabelle
Publisher:London: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2020-06, Vol.15 (1), p.1-148, Article 148
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Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment
Author / Creator:Desguerre, Isabelle ; Barrois, Rémi ; Audic, Frédérique ; Barnerias, Christine ; Chabrol, Brigitte ; Davion, Jean Baptiste ; Durigneux, Julien ; Espil-Taris, Caroline ; Gomez-Garcia de la Banda, Marta ; Guichard, Marine ; Isapof, Arnaud ; Nougues, Marie Christine ; Laugel, Vincent ; Le Goff, Laure ; Mercier, Sandra ; Pervillé, Anne ; Richelme, Christian ; Thibaud, Marie ; Sarret, Catherine ; Schweitzer, Cyril ; Testard, Hervé ; Trommsdorff, Valérie ; Vanhulle, Catherine ; Walther-Louvier, Ulrike ; Altuzarra, Cécilia ; Chouchane, Mondher ; Ropars, Juliette ; Quijano-Roy, Susana ; Cances, Claude
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-09, Vol.19 (1), p.344-11, Article 344
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Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project
Author / Creator:de Vries, Petrus J ; Belousova, Elena ; Benedik, Mirjana P ; Carter, Tom ; Cottin, Vincent ; Curatolo, Paolo ; D'Amato, Lisa ; Beure d'Augères, Guillaume ; Ferreira, José 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, J Chris ; Jansen, Anna C
Publisher:England: BioMed Central
Journal title:Journal of neurodevelopmental disorders, 2020-09, Vol.12 (1), p.24-24, Article 24
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Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort
Author / Creator:Rouzier, Cécile ; Chaussenot, Annabelle ; Serre, Valérie ; Fragaki, Konstantina ; Bannwarth, Sylvie ; Ait-El-Mkadem, Samira ; Attarian, Shahram ; Kaphan, Elsa ; Cano, Aline ; Delmont, Emilien ; Sacconi, Sabrina ; Mousson de Camaret, Bénédicte ; Rio, Marlène ; Lebre, Anne-Sophie ; Jardel, Claude ; Deschamps, Romain ; Richelme, Christian ; Pouget, Jean ; Chabrol, Brigitte ; Paquis-Flucklinger, Véronique
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2014-04, Vol.22 (4), p.542-550
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The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein
Author / Creator:Rouzier, C ; Le Guédard-Méreuze, S ; Fragaki, K ; Serre, V ; Miro, J ; Tuffery-Giraud, S ; Chaussenot, A ; Bannwarth, S ; Caruba, C ; Ostergaard, E ; Pellissier, J-F ; Richelme, C ; Espil, C ; Chabrol, B ; Paquis-Flucklinger, V
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2010-10, Vol.47 (10), p.670-676
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Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay
Author / Creator: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, Melvin ; Clanet, Michel ; Wallace, Douglas ; Paquis-Flucklinger, Véronique
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2006-08, Vol.14 (8), p.917-922
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ArticlesPeer ReviewedFull Text
Foreword
Author / Creator:Evrard, Philippe ; Tardieu, Marc ; Richelme, Christian ; Cioni, Giovanni ; Bax, Martin ; Baxter, Peter
Publisher:Oxford, UK: Blackwell Publishing Ltd
Journal title:Developmental medicine and child neurology, 2005-10, Vol.47 (10), p.2-2
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ArticlesPeer ReviewedFull Text
Foreword
Author / Creator:Evrard, Philippe ; Tardieu, Marc ; Richelme, Christian ; Cioni, Giovanni ; Bax, Martin ; Baxter, Peter
Journal title:Developmental medicine and child neurology, 2005-10, Vol.47 (10), p.2-2
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ArticlesPeer ReviewedFull Text
Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay
Author / Creator: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
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2007-05, Vol.15 (5), p.607
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Erratum: Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay
Author / Creator: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 ; Paquis-Flucklinger, Véronique
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2007-05, Vol.15 (5), p.607-607
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TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study
Author / Creator:de Vries, Petrus J ; Belousova, Elena ; Benedik, Mirjana P ; Carter, Tom ; Cottin, Vincent ; Curatolo, Paolo ; Dahlin, Maria ; D'Amato, Lisa ; d'Augères, Guillaume B ; Ferreira, José C ; Feucht, Martha ; Fladrowski, Carla ; Hertzberg, Christoph ; Jozwiak, Sergiusz ; Kingswood, J Chris ; 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 ; Jansen, Anna C
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2018-09, Vol.13 (1), p.157-157, Article 157
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Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study
Author / Creator:Benedik, Mirjana P. ; Carter, Tom ; Dahlin, Maria ; D´Amato, Lisa ; de Vries, Petrus J. ; Feucht, Martha ; Fladrowski, Carla ; Macaya, Alfons ; O'Callaghan, Finbar ; Sander, Valentin ; Shah, Seema ; Youroukos, Sotiris ; Zonnenberg, Bernard ; Shinohara, Nobuo ; Horie, Shigeo ; Imai, Katsumi ; Kaneda, Mari ; Kaneko, Hideo ; Uchida, Yasushi ; Endo, Shoichi ; Inoue, Yoshikazu ; Uruno, Katsuhisa ; Yapici, Zuhal ; Agranovich, Oleg ; Vladimirovna Maksimova, Yulia ; Karas, Antonina ; Jiang, Yuwu ; Xu, Kaifeng ; Zhang, Yushi ; Luan, Guoming ; Ye, Dingwei ; Liao, Weiping ; YAN, Bo ; Deng, Yanchun ; Liu, Zhisheng ; Chi, Ching‐Shiang ; Huang, Chao‐Ching ; Riney, Kate ; Kwan, Patrick ; Likasitwattanakul, Surachai ; Sriudomkajorn, Somjit ; Wilmshurst, Jo ; Segel, Reeval ; Gilboa, Tal ; Tzadok, Michal ; Syrigou Papavasiliou, Antigone ; Giannakodimos, Stylianos ; Pavlou, Evangelos ; Dhooghe, Marc ; Verhelst, Hélène ; Leroy, Patricia ; Demonceau, Nathalie ; Van Bogaert, Patrick ; Ceulemans, Berten ; Dom, Lina ; De Saint Martin, Anne ; Milh, Mathieu ; Ville, Dorothee ; Auvin, Stéphane ; Berquin, Patrick ; Nguyen The Tich, Sylvie ; Godet, Bertrand ; Rojas, Maria Luz Ruiz Falco ; Planas, Jaume Campistol ; Dura, Patricia Smeyers ; Pison, Javier Lopez ; Laso, Eduardo Lopez ; Salas, Ana Camacho ; Carrera, Itxaso Marti ; Salcedo, Eduardo Martinez ; Candela, Ramon Cancho ; Vieira, Jose Pedro ; Monteiro, José Paulo da Silva Oliveira ; Luis, Catarina Sofia Marceano Ribeiro ; Pires Mendonca, Carla ; Strautmanis, Jurgis ; Gambardella, Antonio ; Buono, Salvatore ; Fontana, Elena ; Bernardina, Bernardo Dalla ; Cosma, Iuliu Stefan Bacos ; Popescu, Laura ; Zitterbart, Karel ; Payerova, Jaroslava ; Zilinska, Zuzana ; Rostasy, Kevin ; Elmslie, Frances ; Uldall, Peter ; Uvebrant, Paul ; Rask, Olof ; Sloerdahl, Andreas ; Solhoff, Ragnar ; Radzikowska, Elzbieta Janina ; Wysocki, Mariusz ; Fischereder, Michael ; Kurlemann, Gerhard ; Wiemer‐Kruel, Adelheid ; Budde, Klemens ; Knuf, Markus ; Hartmann, Hans
Publisher:United States: John Wiley & Sons, Inc
Journal title:Epilepsia open, 2019-03, Vol.4 (1), p.73-84
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Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)
Author / Creator:Sauter, Matthias ; Belousova, Elena ; Benedik, Mirjana P ; Carter, Tom ; Cottin, Vincent ; Curatolo, Paolo ; Dahlin, Maria ; D'Amato, Lisa ; d'Augères, Guillaume B ; de Vries, Petrus J ; Ferreira, José 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 ; Shah, Seema ; Takahashi, Yukitoshi ; Touraine, Renaud ; Youroukos, Sotiris ; Zonnenberg, Bernard ; Jansen, Anna ; Kingswood, J Chris
Publisher:England: BioMed Central
Journal title:Orphanet journal of rare diseases, 2021-07, Vol.16 (1), p.301-301, Article 301
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NDUFS6 related Leigh syndrome: a case report and review of the literature

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

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

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Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project

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Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort

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The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein

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Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay

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Foreword

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Foreword

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Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay

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Erratum: Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay

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TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study

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Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study

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Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)

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