Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature von Bar, Claire, Barcia, Giulia, Jennesson, Mélanie, Le Guyader, Gwenaël, Schneider, Amy, Mignot, Cyril, Lesca, Gaetan, Breuillard, Delphine, Montomoli, Martino, Keren, Boris, Doummar, Diane, Billette de Villemeur, Thierry, Afenjar, Alexandra, Marey, Isabelle, Gerard, Marion, Isnard, Hervé, Poisson, Alice, Dupont, Sophie, Berquin, Patrick, Meyer, Pierre, Genevieve, David, De Saint Martin, Anne, El Chehadeh, Salima, Chelly, Jamel, Guët, Agnès, Scalais, Emmanuel, Dorison, Nathalie, Myers, Candace T., Mefford, Heather C., Howell, Katherine B., Marini, Carla, Freeman, Jeremy L., Nica, Anca, Terrone, Gaetano, Sekhara, Tayeb, Lebre, Anne‐Sophie, Odent, Sylvie, Sadleir, Lynette G., Munnich, Arnold, Guerrini, Renzo, Scheffer, Ingrid E., Kabashi, Edor, Nabbout, Rima

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Adult diagnosis of Townes–Brocks syndrome with renal failure: Two related cases and review of literature von Beaudoux, Olivia, Lebre, Anne‐Sophie, Doco Fenzy, Martine, Spodenkiewicz, Marta, Canivet, Eric, Colosio, Charlotte, Poirsier, Céline

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Spectrum of HNF1B Mutations in a Large Cohort of Patients Who Harbor Renal Diseases von Heidet, Laurence, Decramer, Stéphane, Pawtowski, Audrey, Morinière, Vincent, Bandin, Flavio, Knebelmann, Bertrand, Lebre, Anne-Sophie, Faguer, Stanislas, Guigonis, Vincent, Antignac, Corinne, Salomon, Rémi

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Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy von Galmiche, Louise, Serre, Valérie, Beinat, Marine, Assouline, Zahra, Lebre, Anne-Sophie, Chretien, Dominique, Nietschke, Patrick, Benes, Vladimir, Boddaert, Nathalie, Sidi, Daniel, Brunelle, Francis, Rio, Marlène, Munnich, Arnold, Rötig, Agnès

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Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome von Bar, Claire, Kuchenbuch, Mathieu, Barcia, Giulia, Schneider, Amy, Jennesson, Mélanie, Le Guyader, Gwenaël, Lesca, Gaetan, Mignot, Cyril, Montomoli, Martino, Parrini, Elena, Isnard, Hervé, Rolland, Anne, Keren, Boris, Afenjar, Alexandra, Dorison, Nathalie, Sadleir, Lynette G., Breuillard, Delphine, Levy, Raphael, Rio, Marlène, Dupont, Sophie, Negrin, Susanna, Danieli, Alberto, Scalais, Emmanuel, De Saint Martin, Anne, El Chehadeh, Salima, Chelly, Jamel, Poisson, Alice, Lebre, Anne‐Sophie, Nica, Anca, Odent, Sylvie, Sekhara, Tayeb, Brankovic, Vesna, Goldenberg, Alice, Vrielynck, Pascal, Lederer, Damien, Maurey, Hélène, Terrone, Gaetano, Besmond, Claude, Hubert, Laurence, Berquin, Patrick, Billette de Villemeur, Thierry, Isidor, Bertrand, Freeman, Jeremy L., Mefford, Heather C., Myers, Candace T., Howell, Katherine B., Rodríguez‐Sacristán Cascajo, Andrés, Meyer, Pierre, Genevieve, David, Guët, Agnès, Doummar, Diane, Durigneux, Julien, van Dooren, Marieke F., de Wit, Marie Claire Y., Gerard, Marion, Marey, Isabelle, Munnich, Arnold, Guerrini, Renzo, Scheffer, Ingrid E., Kabashi, Edor, Nabbout, Rima

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Epileptic phenotypes in children with respiratory chain disorders von El Sabbagh, Sandra, Lebre, Anne‐Sophie, Bahi‐Buisson, Nadia, Delonlay, Pascale, Soufflet, Christine, Boddaert, Nathalie, Rio, Marlène, Rötig, Agnès, Dulac, Olivier, Munnich, Arnold, Desguerre, Isabelle

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Natural history of Barth syndrome: a national cohort study of 22 patients von Rigaud, Charlotte, Lebre, Anne-Sophie, Touraine, Renaud, Beaupain, Blandine, Ottolenghi, Chris, Chabli, Allel, Ansquer, Helene, Ozsahin, Hulya, Di Filippo, Sylvie, De Lonlay, Pascale, Borm, Betina, Rivier, Francois, Vaillant, Marie-Catherine, Mathieu-Dramard, Michèle, Goldenberg, Alice, Viot, Géraldine, Charron, Philippe, Rio, Marlene, Bonnet, Damien, Donadieu, Jean

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Significant contribution of intragenic deletions to ARID1B mutation spectrum von Gorokhova, Svetlana, Mortreux, Jeremie, Afenjar, Alexandra, Attie-Bitach, Tania, Blanluet, Maud, Cormier-Daire, Valérie, Guerrot, Anne-Marie, Lebre, Anne-Sophie, Malan, Valérie, Nicolas, Gael, Rondeau, Sophie, Philip, Nicole, Saugier-Veber, Pascale, Badens, Catherine, Missirian, Chantal

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Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles von Kuster, Alice, Arnoux, Jean-Baptiste, Barth, Magalie, Lamireau, Delphine, Houcinat, Nada, Goizet, Cyril, Doray, Bérénice, Gobin, Stéphanie, Schiff, Manuel, Cano, Aline, Amsallem, Daniel, Barnerias, Christine, Chaumette, Boris, Plaze, Marion, Slama, Abdelhamid, Ioos, Christine, Desguerre, Isabelle, Lebre, Anne-Sophie, de Lonlay, Pascale, Christa, Laurence

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Monoallelic Loss-of-Function IFT140 Pathogenic Variants Cause Autosomal Dominant Polycystic Kidney Disease: A Confirmatory Study With Suspicion of an Additional Cardiac Phenotype von Salhi, Sofiane, Doreille, Alice, Dancer, Marine Serveaux, Boueilh, Anna, Filipozzi, Pierre, El Karoui, Khalil, Ponce, Fanny, Lebre, Anne-Sophie, Raymond, Laure, Mesnard, Laurent

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Huntington’s disease‐like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes von Stevanin, Giovanni, Fujigasaki, Hiroto, Lebre, Anne‐Sophie, Camuzat, Agnès, Jeannequin, Cécile, Dodé, Catherine, Takahashi, Junko, Sân, Chankranira, Bellance, Robert, Brice, Alexis, Durr, Alexandra

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Primary mitochondrial disorders and mimics: Insights from a large French cohort von Rouzier, Cécile, Pion, Emmanuelle, Chaussenot, Annabelle, Bris, Céline, Ait‐El‐Mkadem Saadi, Samira, Desquiret‐Dumas, Valérie, Gueguen, Naïg, Fragaki, Konstantina, Amati‐Bonneau, Patrizia, Barcia, Giulia, Gaignard, Pauline, Steffann, Julie, Pennisi, Alessandra, Bonnefont, Jean‐Paul, Lebigot, Elise, Bannwarth, Sylvie, Francou, Bruno, Rucheton, Benoit, Sternberg, Damien, Martin‐Negrier, Marie‐Laure, Trimouille, Aurélien, Hardy, Gaëlle, Allouche, Stéphane, Acquaviva‐Bourdain, Cécile, Pagan, Cécile, Lebre, Anne‐Sophie, Reynier, Pascal, Cossee, Mireille, Attarian, Shahram, Paquis‐Flucklinger, Véronique, Procaccio, Vincent

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Nephronophthisis in Young Adults Phenocopying Thrombotic Microangiopathy and Severe Nephrosclerosis von Doreille, Alice, Raymond, Laure, Lebre, Anne-Sophie, Linster, Charel, Saraeva Lamri, Radoslava, Karras, Alexandre, Khayat, Rateb, Michel, Pierre-Antoine, Buob, David, Luque, Yosu, Rafat, Cédric, Mesnard, Laurent

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Prolidase deficiency: a new genetic cause of combined pulmonary fibrosis and emphysema syndrome in the adult von Cottin, Vincent, Nasser, Mouhamad, Traclet, Julie, Chalabreysse, Lara, Lèbre, Anne-Sophie, Si-Mohamed, Salim, Philit, François, Thivolet-Béjui, Françoise

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Mutational Characteristics of Primary Mucosal Melanoma: A Systematic Review von Beaudoux, Olivia, Oudart, Jean-Baptiste, Riffaud, Laurence, Visseaux, Laetitia, Marchal, Aude, Lebre, Anne-Sophie, Grange, Florent

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Amyloid precursor-like protein 2 cleavage contributes to neuronal intranuclear inclusions and cytotoxicity in spinocerebellar ataxia-7 (SCA7) von Takahashi-Fujigasaki, Junko, Breidert, Tilo, Fujigasaki, Hiroto, Duyckaerts, Charles, Camonis, Jacques H, Brice, Alexis, Lebre, Anne-Sophie

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Clinical Genetics of Prolidase Deficiency: An Updated Review von Spodenkiewicz, Marta, Spodenkiewicz, Michel, Cleary, Maureen, Massier, Marie, Fitsialos, Giorgos, Cottin, Vincent, Jouret, Guillaume, Poirsier, Céline, Doco-Fenzy, Martine, Lèbre, Anne-Sophie

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Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A -Related Syndrome von Foroutan, Aidin, Haghshenas, Sadegheh, Bhai, Pratibha, Levy, Michael A, Kerkhof, Jennifer, McConkey, Haley, Niceta, Marcello, Ciolfi, Andrea, Pedace, Lucia, Miele, Evelina, Genevieve, David, Heide, Solveig, Alders, Mariëlle, Zampino, Giuseppe, Merla, Giuseppe, Fradin, Mélanie, Bieth, Eric, Bonneau, Dominique, Dieterich, Klaus, Fergelot, Patricia, Schaefer, Elise, Faivre, Laurence, Vitobello, Antonio, Maitz, Silvia, Fischetto, Rita, Gervasini, Cristina, Piccione, Maria, van de Laar, Ingrid, Tartaglia, Marco, Sadikovic, Bekim, Lebre, Anne-Sophie

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Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency von Leman, Géraldine, Gueguen, Naïg, Desquiret-Dumas, Valérie, Kane, Mariame Selma, Wettervald, Céline, Chupin, Stéphanie, Chevrollier, Arnaud, Lebre, Anne-Sophie, Bonnefont, Jean-Paul, Barth, Magalie, Amati-Bonneau, Patrizia, Verny, Christophe, Henrion, Daniel, Bonneau, Dominique, Reynier, Pascal, Procaccio, Vincent

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Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients von Haghighi, Alireza, Haack, Tobias B, Atiq, Mehnaz, Mottaghi, Hassan, Haghighi-Kakhki, Hamidreza, Bashir, Rani A, Ahting, Uwe, Feichtinger, René G, Mayr, Johannes A, Rötig, Agnès, Lebre, Anne-Sophie, Klopstock, Thomas, Dworschak, Andrea, Pulido, Nathan, Saeed, Mahmood A, Saleh-Gohari, Nasrollah, Holzerova, Eliska, Chinnery, Patrick F, Taylor, Robert W, Prokisch, Holger

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