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ArticlesPeer ReviewedFull Text
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, T...
Author / Creator:Tucker, Elena J. ; Rius, Rocio ; Jaillard, Sylvie ; Bell, Katrina ; Lamont, Phillipa J. ; Travessa, André ; Dupont, Juliette ; Sampaio, Lurdes ; Dulon, Jérôme ; Vuillaumier-Barrot, Sandrine ; Whalen, Sandra ; Isapof, Arnaud ; Stojkovic, Tanya ; Quijano-Roy, Susana ; Robevska, Gorjana ; van den Bergen, Jocelyn ; Hanna, Chloe ; Simpson, Andrea ; Ayers, Katie ; Thorburn, David R. ; Christodoulou, John ; Touraine, Philippe ; Sinclair, Andrew H.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2020-10, Vol.139 (10), p.1325-1343
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New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome
Author / Creator:Masingue, Marion ; Cattaneo, Olivia ; Wolff, Nicolas ; Buon, Céline ; Sternberg, Damien ; Euchparmakian, Morgane ; Boex, Myriam ; Behin, Anthony ; Mamchaouhi, Kamel ; Maisonobe, Thierry ; Nougues, Marie-Christine ; Isapof, Arnaud ; Fontaine, Bertrand ; Messéant, Julien ; Eymard, Bruno ; Strochlic, Laure ; Bauché, Stéphanie
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2023-08, Vol.13 (1), p.14054-14054, Article 14054
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GGPS1‐associated muscular dystrophy with and without hearing loss
Author / Creator:Kaiyrzhanov, Rauan ; Perry, Luke ; Rocca, Clarissa ; Zaki, Maha S. ; Hosny, Heba ; Araujo Martins Moreno, Cristiane ; Phadke, Rahul ; Zaharieva, Irina ; Camelo Gontijo, Clara ; Beetz, Christian ; Pini, Veronica ; Movahedinia, Mojtaba ; Zanoteli, Edmar ; DiTroia, Stephanie ; Vuillaumier‐Barrot, Sandrine ; Isapof, Arnaud ; Mehrjardi, Mohammad Yahya Vahidi ; Ghasemi, Nasrin ; Sarkozy, Anna ; Muntoni, Francesco ; Whalen, Sandra ; Vona, Barbara ; Houlden, Henry ; Maroofian, Reza
Publisher:Bognor Regis: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2022-09, Vol.9 (9), p.1465-1474
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Tacrolimus nephrotoxicity: beware of the association of diarrhea, drug interaction and pharmacogenetics
Author / Creator:Leroy, Sandrine ; Isapof, Arnaud ; Fargue, Sonia ; Fakhoury, May ; Bensman, Albert ; Deschênes, Georges ; Jacqz-Aigrain, Evelyne ; Ulinski, Tim
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Pediatric nephrology (Berlin, West), 2010-05, Vol.25 (5), p.965-969
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Clinical and genetic features of patients suffering from CMT4J
Author / Creator:Beloribi-Djefaflia, Sadia ; Morales, Raul Juntas ; Fatehi, Farzad ; Isapof, Arnaud ; Servais, Laurent ; Leonard-Louis, Sarah ; Michaud, Maud ; Verdure, Pierre ; Gidaro, Teresa ; Pouget, Jean ; Poinsignon, Vianney ; Bonello-Palot, Nathalie ; Attarian, Shahram
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Journal of neurology, 2024-03, Vol.271 (3), p.1355-1365
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Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy
Author / Creator:Mignot, Cyril ; von Stülpnagel, Celina ; Nava, Caroline ; Ville, Dorothée ; Sanlaville, Damien ; Lesca, Gaetan ; Rastetter, Agnès ; Gachet, Benoit ; Marie, Yannick ; Korenke, G Christoph ; Borggraefe, Ingo ; Hoffmann-Zacharska, Dorota ; Szczepanik, Elżbieta ; Rudzka-Dybała, Mariola ; Yiş, Uluç ; Çağlayan, Hande ; Isapof, Arnaud ; Marey, Isabelle ; Panagiotakaki, Eleni ; Korff, Christian ; Rossier, Eva ; Riess, Angelika ; Beck-Woedl, Stefanie ; Rauch, Anita ; Zweier, Christiane ; Hoyer, Juliane ; Reis, André ; Mironov, Mikhail ; Bobylova, Maria ; Mukhin, Konstantin ; Hernandez-Hernandez, Laura ; Maher, Bridget ; Sisodiya, Sanjay ; Kuhn, Marius ; Glaeser, Dieter ; Weckhuysen, Sarah ; Myers, Candace T ; Mefford, Heather C ; Hörtnagel, Konstanze ; Biskup, Saskia ; Lemke, Johannes R ; Héron, Delphine ; Kluger, Gerhard ; Depienne, Christel ; Craiu, Dana ; De Jonghe, Peter ; Helbig, Ingo ; Guerrini, Renzo ; Lehesjoki, Anna-Elina ; Marini, Carla ; Muhle, Hiltrud ; Møller, Rikke S ; Neubauer, Bernd ; Pal, Deb ; Selmer, Kaja ; Stephani, Ulrich ; Sterbova, Katalin ; Striano, Pasquale ; Talvik, Tiina ; von Spiczak, Sarah
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2016-08, Vol.53 (8), p.511-522
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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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The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care
Author / Creator:De Antonio, Marie ; Dogan, Céline ; Daidj, Ferroudja ; Eymard, Bruno ; Puymirat, Jack ; Mathieu, Jean ; Gagnon, Cynthia ; Katsahian, Sandrine ; Hamroun, Dalil ; Bassez, Guillaume
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2019-06, Vol.14 (1), p.122-14, Article 122
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Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Author / Creator:Snijders Blok, Lot ; Rousseau, Justine ; Twist, Joanna ; Ehresmann, Sophie ; Takaku, Motoki ; Venselaar, Hanka ; Rodan, Lance H. ; Nowak, Catherine B. ; Douglas, Jessica ; Swoboda, Kathryn J. ; Steeves, Marcie A. ; Sahai, Inderneel ; Stumpel, Connie T. R. M. ; Stegmann, Alexander P. A. ; Wheeler, Patricia ; Willing, Marcia ; Fiala, Elise ; Kochhar, Aaina ; Gibson, William T. ; Cohen, Ana S. A. ; Agbahovbe, Ruky ; Innes, A. Micheil ; Au, P. Y. Billie ; Rankin, Julia ; Anderson, Ilse J. ; Skinner, Steven A. ; Louie, Raymond J. ; Warren, Hannah E. ; Afenjar, Alexandra ; Keren, Boris ; Nava, Caroline ; Buratti, Julien ; Isapof, Arnaud ; Rodriguez, Diana ; Lewandowski, Raymond ; Propst, Jennifer ; van Essen, Ton ; Choi, Murim ; Lee, Sangmoon ; Chae, Jong H. ; Price, Susan ; Schnur, Rhonda E. ; Douglas, Ganka ; Wentzensen, Ingrid M. ; Zweier, Christiane ; Reis, André ; Bialer, Martin G. ; Moore, Christine ; Koopmans, Marije ; Brilstra, Eva H. ; Monroe, Glen R. ; van Gassen, Koen L. I. ; van Binsbergen, Ellen ; Newbury-Ecob, Ruth ; Bownass, Lucy ; Bader, Ingrid ; Mayr, Johannes A. ; Wortmann, Saskia B. ; Jakielski, Kathy J. ; Strand, Edythe A. ; Kloth, Katja ; Bierhals, Tatjana ; Roberts, John D. ; Petrovich, Robert M. ; Machida, Shinichi ; Kurumizaka, Hitoshi ; Lelieveld, Stefan ; Pfundt, Rolph ; Jansen, Sandra ; Deriziotis, Pelagia ; Faivre, Laurence ; Thevenon, Julien ; Assoum, Mirna ; Shriberg, Lawrence ; Kleefstra, Tjitske ; Brunner, Han G. ; Wade, Paul A. ; Fisher, Simon E. ; Campeau, Philippe M.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2019-05, Vol.10 (1), p.2079-2079, Article 2079
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ArticlesPeer ReviewedFull Text
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
Author / Creator:Blok, Lot Snijders ; Rousseau, Justine ; Twist, Joanna ; Ehresmann, Sophie ; Takaku, Motoki ; Venselaar, Hanka ; Rodan, Lance H. ; Nowak, Catherine B. ; Douglas, Jessica ; Swoboda, Kathryn J. ; Steeves, Marcie A. ; Sahai, Inderneel ; Stumpel, Connie T. R. M. ; Stegmann, Alexander P. A. ; Wheeler, Patricia ; Willing, Marcia ; Fiala, Elise ; Kochhar, Aaina ; Gibson, William T. ; Cohen, Ana S. A. ; Agbahovbe, Ruky ; Innes, A. Micheil ; Au, P. Y. Billie ; Rankin, Julia ; Anderson, Ilse J. ; Skinner, Steven A. ; Louie, Raymond J. ; Warren, Hannah E. ; Afenjar, Alexandra ; Keren, Boris ; Nava, Caroline ; Buratti, Julien ; Isapof, Arnaud ; Rodriguez, Diana ; Lewandowski, Raymond ; Propst, Jennifer ; van Essen, Ton ; Choi, Murim ; Lee, Sangmoon ; Chae, Jong H. ; Price, Susan ; Schnur, Rhonda E. ; Douglas, Ganka ; Wentzensen, Ingrid M. ; Zweier, Christiane ; Reis, André ; Bialer, Martin G. ; Moore, Christine ; Koopmans, Marije ; Brilstra, Eva H. ; Monroe, Glen R. ; van Gassen, Koen L. I. ; van Binsbergen, Ellen ; Newbury-Ecob, Ruth ; Bownass, Lucy ; Bader, Ingrid ; Mayr, Johannes A. ; Wortmann, Saskia B. ; Jakielski, Kathy J. ; Strand, Edythe A. ; Kloth, Katja ; Bierhals, Tatjana ; Roberts, John D. ; Petrovich, Robert M. ; Machida, Shinichi ; Kurumizaka, Hitoshi ; Lelieveld, Stefan ; Pfundt, Rolph ; Jansen, Sandra ; Deriziotis, Pelagia ; Faivre, Laurence ; Thevenon, Julien ; Assoum, Mirna ; Shriberg, Lawrence ; Kleefstra, Tjitske ; Brunner, Han G. ; Wade, Paul A. ; Fisher, Simon E. ; Campeau, Philippe M.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2019-02, Vol.10 (1), p.883-4, Article 883
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ArticlesPeer ReviewedFull Text
Klüver Bucy syndrome following hypoglycaemic coma in a patient with glycogen storage disease type Ib
Author / Creator:Boudjemline, Alix Mollet ; Isapof, Arnaud ; Witas, Jean-Bernard ; Petit, François M. ; Gajdos, Vincent ; Labrune, Philippe
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2010-12, Vol.33 (Suppl 3), p.477-480
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Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, T...

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New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani–Lenz syndrome

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GGPS1‐associated muscular dystrophy with and without hearing loss

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Tacrolimus nephrotoxicity: beware of the association of diarrhea, drug interaction and pharmacogenetics

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Clinical and genetic features of patients suffering from CMT4J

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Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

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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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The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care

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Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

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Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

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Klüver Bucy syndrome following hypoglycaemic coma in a patient with glycogen storage disease type Ib

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