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Birt–Hogg–Dubé syndrome
Daccord, Cécile, Good, Jean-Marc, Morren, Marie-Anne, Bonny, Olivier, Hohl, Daniel, Lazor, Romain
Published in European respiratory review (30.09.2020)
Published in European respiratory review (30.09.2020)
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Journal Article
SORD‐related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages
Pons, Nicolas, Fernández‐Eulate, Gorka, Pegat, Antoine, Théaudin, Marie, Guieu, Régis, Ripellino, Paolo, Devedjian, Manon, Mace, Patrick, Masingue, Marion, Léonard‐Louis, Sarah, Petiot, Philipe, Roche, Pauline, Bernard, Emilien, Bouhour, Françoise, Good, Jean‐Marc, Verschueren, Annie, Grapperon, Aude‐Marie, Salort, Emmanuelle, Grosset, Anaïs, Chanson, Jean‐Baptiste, Nadaj‐Pakleza, Aleksandra, Bédat‐Millet, Anne‐Laure, Choumert, Ariane, Barnier, Anne, Hamdi, Ghassen, Lesca, Gaëtan, Prieur, Fabienne, Bruneel, Arnaud, Latour, Philippe, Stojkovic, Tanya, Attarian, Shahram, Bonello‐Palot, Nathalie
Published in European journal of neurology (01.07.2023)
Published in European journal of neurology (01.07.2023)
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Journal Article
Developmental disorder and spastic paraparesis in two sisters with a TCF7L2 truncating variant inherited from a mosaic mother
Royer‐Bertrand, Beryl, Lebon, Sébastien, Craig, Ailsa, Maeder, Johanna, Mittaz‐Crettol, Laureane, Fodstad, Heidi, Superti‐Furga, Andrea, Good, Jean‐Marc
Published in American journal of medical genetics. Part A (01.06.2023)
Published in American journal of medical genetics. Part A (01.06.2023)
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Journal Article
L-serine deficiency: on the properties of the Asn133Ser variant of human phosphoserine phosphatase
Pollegioni, Loredano, Campanini, Barbara, Good, Jean-Marc, Motta, Zoraide, Murtas, Giulia, Buoli Comani, Valeria, Pavlidou, Despina-Christina, Mercier, Noëlle, Mittaz-Crettol, Laureane, Sacchi, Silvia, Marchesani, Francesco
Published in Scientific reports (30.05.2024)
Published in Scientific reports (30.05.2024)
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Journal Article
Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity
Haro, Endika, Petit, Florence, Pira, Charmaine U., Spady, Conor D., Lucas-Toca, Sara, Yorozuya, Lauren I., Gray, Austin L., Escande, Fabienne, Jourdain, Anne-Sophie, Nguyen, Andy, Fellmann, Florence, Good, Jean-Marc, Francannet, Christine, Manouvrier-Hanu, Sylvie, Ros, Marian A., Oberg, Kerby C.
Published in Nature communications (20.09.2021)
Published in Nature communications (20.09.2021)
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Journal Article
CNOT2 haploinsufficiency in a 40‐year‐old man with intellectual disability, autism, and seizures
Royer‐Bertrand, Beryl, Cisarova, Katarina, Niel Bütschi, Florence, Foletti, Giovanni, Guinchat, Vincent, Tran, Christel, Superti‐Furga, Andrea, Good, Jean‐Marc
Published in American journal of medical genetics. Part A (01.08.2021)
Published in American journal of medical genetics. Part A (01.08.2021)
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Journal Article
Maturation of Cerebellar Purkinje Cell Population Activity during Postnatal Refinement of Climbing Fiber Network
Good, Jean-Marc, Mahoney, Michael, Miyazaki, Taisuke, Tanaka, Kenji F., Sakimura, Kenji, Watanabe, Masahiko, Kitamura, Kazuo, Kano, Masanobu
Published in Cell reports (Cambridge) (21.11.2017)
Published in Cell reports (Cambridge) (21.11.2017)
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Journal Article
A novel mutation in SCN4A causes severe myotonia and school-age-onset paralytic episodes
Yoshinaga, Harumi, Sakoda, Shunichi, Good, Jean-Marc, Takahashi, Masanori P., Kubota, Tomoya, Arikawa-Hirasawa, Eri, Nakata, Tomohiko, Ohno, Kinji, Kitamura, Tetsuro, Kobayashi, Katsuhiro, Ohtsuka, Yoko
Published in Journal of the neurological sciences (15.04.2012)
Published in Journal of the neurological sciences (15.04.2012)
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Journal Article
A New Variant in the MYH11 Gene in a Familial Case of Thoracic Aortic Aneurysm
Pucci, Lorenzo, Pointet, Alexandra, Good, Jean-Marc, Davoine, Emeline, Cina, Viviane, Zanchi, Fabio, Deglise, Sebastien, Duchosal, Lucia Mazzolai, Kirsch, Matthias
Published in The Annals of thoracic surgery (01.04.2020)
Published in The Annals of thoracic surgery (01.04.2020)
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Journal Article
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
Currò, Riccardo, Dominik, Natalia, Facchini, Stefano, Vegezzi, Elisa, Sullivan, Roisin, Galassi Deforie, Valentina, Fernández-Eulate, Gorka, Traschütz, Andreas, Rossi, Salvatore, Garibaldi, Matteo, Kwarciany, Mariusz, Taroni, Franco, Brusco, Alfredo, Good, Jean-Marc, Cavalcanti, Francesca, Hammans, Simon, Ravenscroft, Gianina, Roxburgh, Richard H, Parolin Schnekenberg, Ricardo, Rugginini, Bianca, Abati, Elena, Manini, Arianna, Quartesan, Ilaria, Ghia, Arianna, Lòpez de Munaìn, Adolfo, Manganelli, Fiore, Kennerson, Marina, Santorelli, Filippo Maria, Infante, Jon, Marques, Wilson, Jokela, Manu, Murphy, Sinéad M, Mandich, Paola, Fabrizi, Gian Maria, Briani, Chiara, Gosal, David, Pareyson, Davide, Ferrari, Alberto, Prados, Ferran, Yousry, Tarek, Khurana, Vikram, Kuo, Sheng-Han, Miller, James, Troakes, Claire, Jaunmuktane, Zane, Giunti, Paola, Hartmann, Annette, Basak, Nazli, Synofzik, Matthis, Stojkovic, Tanya, Hadjivassiliou, Marios, Reilly, Mary M, Houlden, Henry, Cortese, Andrea
Published in Brain (London, England : 1878) (03.05.2024)
Published in Brain (London, England : 1878) (03.05.2024)
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Journal Article
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus
Galosi, Serena, Edani, Ban H, Martinelli, Simone, Hansikova, Hana, Eklund, Erik A, Caputi, Caterina, Masuelli, Laura, Corsten-Janssen, Nicole, Srour, Myriam, Oegema, Renske, Bosch, Daniëlle G M, Ellis, Colin A, Amlie-Wolf, Louise, Accogli, Andrea, Atallah, Isis, Averdunk, Luisa, Barañano, Kristin W, Bei, Roberto, Bagnasco, Irene, Brusco, Alfredo, Demarest, Scott, Alaix, Anne-Sophie, Di Bonaventura, Carlo, Distelmaier, Felix, Elmslie, Frances, Gan-Or, Ziv, Good, Jean-Marc, Gripp, Karen, Kamsteeg, Erik-Jan, Macnamara, Ellen, Marcelis, Carlo, Mercier, Noëlle, Peeden, Joseph, Pizzi, Simone, Pannone, Luca, Shinawi, Marwan, Toro, Camilo, Verbeek, Nienke E, Venkateswaran, Sunita, Wheeler, Patricia G, Zdrazilova, Lucie, Zhang, Rong, Zorzi, Giovanna, Guerrini, Renzo, Sessa, William C, Lefeber, Dirk J, Tartaglia, Marco, Hamdan, Fadi F, Grabińska, Kariona A, Leuzzi, Vincenzo
Published in Brain (London, England : 1878) (29.03.2022)
Published in Brain (London, England : 1878) (29.03.2022)
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Journal Article
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies
Gripp, Karen W., Smithson, Sarah F., Scurr, Ingrid J., Baptista, Julia, Majumdar, Anirban, Pierre, Germaine, Williams, Maggie, Henderson, Lindsay B., Wentzensen, Ingrid M., McLaughlin, Heather, Leeuwen, Lisette, Simon, Marleen E. H., van Binsbergen, Ellen, Dinulos, Mary Beth P., Kaplan, Julie D., McRae, Anne, Superti-Furga, Andrea, Good, Jean-Marc, Kutsche, Kerstin
Published in European journal of human genetics : EJHG (01.09.2021)
Published in European journal of human genetics : EJHG (01.09.2021)
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Journal Article
The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND
Qebibo, Leila, Davakan, Amaël, Nesson-Dauphin, Mathilde, Boulali, Najlae, Siquier-Pernet, Karine, Afenjar, Alexandra, Amiel, Jeanne, Bartholdi, Deborah, Barth, Magalie, Blondiaux, Eléonore, Cristian, Ingrid, Frazier, Zoe, Goldenberg, Alice, Good, Jean-Marc, Salussolia, Catherine Lourdes, Sahin, Mustafa, McCullagh, Helen, McDonald, Kimberly, McRae, Anne, Morrison, Jennifer, Pinner, Jason, Shinawi, Marwan, Toutain, Annick, Vyhnálková, Emílie, Wheeler, Patricia G., Wilnai, Yael, Hausman-Kedem, Moran, Coolen, Marion, Cantagrel, Vincent, Burglen, Lydie, Lory, Philippe
Published in Genetics in medicine (01.03.2025)
Published in Genetics in medicine (01.03.2025)
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Journal Article
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations
Guillouet, Charlotte, Agostini, Valeria, Baujat, Geneviève, Cocciadiferro, Dario, Pippucci, Tommaso, Lesieur-Sebellin, Marion, Georget, Mathieu, Schatz, Ulrich, Fauth, Christine, Louie, Raymond J., Rogers, Curtis, Davis, Jessica M., Konstantopoulou, Vassiliki, Mayr, Johannes A., Bouman, Arjan, Wilke, Martina, VanNoy, Grace E., England, Eleina M., Park, Kristen L., Brown, Kathleen, Saenz, Margarita, Novelli, Antonio, Digilio, Maria Cristina, Mastromoro, Gioia, Rongioletti, Mauro Ciro Antonio, Piacentini, Gerardo, Kaiyrzhanov, Rauan, Guliyeva, Sughra, Hasanova, Lala, Shears, Deborah, Bhatnagar, Ishita, Stals, Karen, Klaas, Oliver, Horvath, Judit, Bouvagnet, Patrice, Witmer, P. Dane, MacCarrick, Gretchen, Cisarova, Katarina, Good, Jean-Marc, Gorokhova, Svetlana, Boute, Odile, Smol, Thomas, Bruel, Ange-Line, Patat, Olivier, Broadbent, Julia R., Tan, Tiong Y., Tan, Natalie B., Lyonnet, Stanislas, Busa, Tiffany, Graziano, Claudio, Amiel, Jeanne, Gordon, Christopher T.
Published in American journal of human genetics (03.04.2025)
Published in American journal of human genetics (03.04.2025)
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Journal Article
In-depth molecular profiling of an intronic GNAO1 mutant as the basis for personalized high-throughput drug screening
Koval, Alexey, Larasati, Yonika A., Savitsky, Mikhail, Solis, Gonzalo P., Good, Jean-Marc, Quinodoz, Mathieu, Rivolta, Carlo, Superti-Furga, Andrea, Katanaev, Vladimir L.
Published in Med (New York, N.Y. : Online) (12.05.2023)
Published in Med (New York, N.Y. : Online) (12.05.2023)
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Journal Article
High prevalence of short telomeres in idiopathic porto-sinusoidal vascular disorder
Coukos, Alexander, Saglietti, Chiara, Sempoux, Christine, Haubitz, Monika, Greuter, Thomas, Mittaz-Crettol, Laureane, Maurer, Fabienne, Mdawar-Bailly, Elise, Moradpour, Darius, Alberio, Lorenzo, Good, Jean-Marc, Baerlocher, Gabriela M., Fraga, Montserrat
Published in Hepatology communications (01.08.2024)
Published in Hepatology communications (01.08.2024)
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Journal Article
Partial lipodystrophy, severe dyslipidaemia and insulin resistant diabetes as early signs of Werner syndrome
Atallah, Isis, McCormick, Dominique, Good, Jean-Marc, Barigou, Mohammed, Fraga, Montserrat, Sempoux, Christine, Superti-Furga, Andrea, Semple, Robert K., Tran, Christel
Published in Journal of clinical lipidology (01.09.2022)
Published in Journal of clinical lipidology (01.09.2022)
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Journal Article