Search Results - "Good, Jean‐Marc"

Birt–Hogg–Dubé syndrome by Daccord, Cécile, Good, Jean-Marc, Morren, Marie-Anne, Bonny, Olivier, Hohl, Daniel, Lazor, Romain

“…Birt–Hogg–Dubé syndrome (BHD) is a rare inherited autosomal dominant disorder caused by germline mutations in the tumour suppressor gene FLCN , encoding the…”
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Developmental disorder and spastic paraparesis in two sisters with a TCF7L2 truncating variant inherited from a mosaic mother by Royer‐Bertrand, Beryl, Lebon, Sébastien, Craig, Ailsa, Maeder, Johanna, Mittaz‐Crettol, Laureane, Fodstad, Heidi, Superti‐Furga, Andrea, Good, Jean‐Marc

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SORD‐related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages by 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

“…Background and purpose Biallelic variants in SORD have been reported as one of the main recessive causes for hereditary peripheral neuropathies such as…”
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CNOT2 haploinsufficiency in a 40‐year‐old man with intellectual disability, autism, and seizures by Royer‐Bertrand, Beryl, Cisarova, Katarina, Niel Bütschi, Florence, Foletti, Giovanni, Guinchat, Vincent, Tran, Christel, Superti‐Furga, Andrea, Good, Jean‐Marc

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Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity by 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.

“…LMX1B haploinsufficiency causes Nail-patella syndrome (NPS; MIM 161200), characterized by nail dysplasia, absent/hypoplastic patellae, chronic kidney disease,…”
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Maturation of Cerebellar Purkinje Cell Population Activity during Postnatal Refinement of Climbing Fiber Network by Good, Jean-Marc, Mahoney, Michael, Miyazaki, Taisuke, Tanaka, Kenji F., Sakimura, Kenji, Watanabe, Masahiko, Kitamura, Kazuo, Kano, Masanobu

“…Neural circuits undergo massive refinements during postnatal development. In the developing cerebellum, the climbing fiber (CF) to Purkinje cell (PC) network…”
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ACTN2 variant associated with a cardiac phenotype suggestive of left-dominant arrhythmogenic cardiomyopathy by Good, Jean-Marc, Fellmann, Florence, Bhuiyan, Zahurul A., Rotman, Samuel, Pruvot, Etienne, Schläpfer, Jürg

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A New Variant in the MYH11 Gene in a Familial Case of Thoracic Aortic Aneurysm by Pucci, Lorenzo, Pointet, Alexandra, Good, Jean-Marc, Davoine, Emeline, Cina, Viviane, Zanchi, Fabio, Deglise, Sebastien, Duchosal, Lucia Mazzolai, Kirsch, Matthias

“…MYH11 (myosin heavy chain 11) gene is involved in vascular contractility and several autosomal dominant mutations have been linked to thoracic aortic…”
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Partial lipodystrophy, severe dyslipidaemia and insulin resistant diabetes as early signs of Werner syndrome by Atallah, Isis, McCormick, Dominique, Good, Jean-Marc, Barigou, Mohammed, Fraga, Montserrat, Sempoux, Christine, Superti-Furga, Andrea, Semple, Robert K., Tran, Christel

“…•Partial lipodystrophy is an unusual presentation of Werner syndrome.•Exome analysis revealed a novel splice site variant c.2732+5G>A.•c.2732+5G>A leads to…”
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L-serine deficiency: on the properties of the Asn133Ser variant of human phosphoserine phosphatase by 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

“…The non-essential amino acid L-serine is involved in a number of metabolic pathways and in the brain its level is largely due to the biosynthesis from the…”
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Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K + channelopathies by 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

“…Decreased or increased activity of potassium channels caused by loss-of-function and gain-of-function (GOF) variants in the corresponding genes, respectively,…”
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De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus by 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

“…Subcellular membrane systems are highly enriched in dolichol, whose role in organelle homeostasis and endosomal-lysosomal pathway remains largely unclear…”
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NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges by Good, Jean-Marc, Atallah, Isis, Castro Jimenez, Mayte, Benninger, David, Kuntzer, Thierry, Superti-Furga, Andrea, Tran, Christel

“…The identification of neurological disorders by next-generation sequencing (NGS)-based gene panels has helped clinicians understand the underlying…”
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In-depth molecular profiling of an intronic GNAO1 mutant as the basis for personalized high-throughput drug screening by Koval, Alexey, Larasati, Yonika A, Savitsky, Mikhail, Solis, Gonzalo P, Good, Jean-Marc, Quinodoz, Mathieu, Rivolta, Carlo, Superti-Furga, Andrea, Katanaev, Vladimir L

“…The GNAO1 gene, encoding the major neuronal G protein Gαo, is mutated in a subset of pediatric encephalopathies. Most such mutations consist of missense…”
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A novel mutation in SCN4A causes severe myotonia and school-age-onset paralytic episodes by 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

“…Abstract Mutations in the pore-forming subunit of the skeletal muscle sodium channel ( SCN4A ) are responsible for hyperkalemic periodic paralysis,…”
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LBP-08 - High prevalence of short telomeres in patients with idiopathic porto-sinusoidal vascular disorder by Coukos, Alexander, Saglietti, Chiara, Haubitz, Monika, Sempoux, Christine, Good, Jean-Marc, Greuter, Thomas, Moradpour, Darius, Alberio, Lorenzo, Baerlocher, Gabriela, Christinet, Montserrat Fraga

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High prevalence of short telomeres in patients with idiopathic porto-sinusoidal vascular disorder by Coukos, Alexander, Saglietti, Chiara, Haubitz, Monika, Sempoux, Christine, Good, Jean-Marc, Greuter, Thomas, Moradpour, Darius, Alberio, Lorenzo, Baerlocher, Gabriela, Christinet, Montserrat Fraga

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Vanishing white matter disease and juvenile lateral sclerosis type 4: Possibly a novel genetic and clinical overlap by Good, Jean-Marc, Vingerhoets, François, Wider, Christian

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Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease by 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

“…RFC1 disease, caused by biallelic repeat expansion in RFC1, is clinically heterogeneous in terms of age of onset, disease progression and phenotype. We…”
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High prevalence of short telomeres in idiopathic porto-sinusoidal vascular disorder by 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

“…Telomeres prevent damage to coding DNA as end-nucleotides are lost during mitosis. Mutations in telomere maintenance genes cause excessive telomere shortening,…”
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