Search Results - "BÜRGLEN, LYDIE"

AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation? by Roubertie, Agathe, Hieu, Nelson, Roux, Charles-Joris, Leboucq, Nicolas, Manes, Gael, Charif, Majida, Echenne, Bernard, Goizet, Cyril, Guissart, Claire, Meyer, Pierre, Marelli, Cecilia, Rivier, François, Burglen, Lydie, Horvath, Rita, Hamel, Christian P, Lenaers, Guy

“…To describe the clinico-radiological phenotype of 3 patients harboring a homozygous novel pathogenic mutation. The 3 patients from an inbred family who…”
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Identification and characterization of a spinal muscular atrophy-determining gene by Lefebvre, Suzie, Bürglen, Lydie, Reboullet, Sophie, Clermont, Olivier, Burlet, Philippe, Viollet, Louis, Benichou, Bernard, Cruaud, Corinne, Millasseau, Philippe, Zeviani, Massimo, Le Paslier, Denis, Frézal, Jean, Cohen, Daniel, Weissenbach, Jean, Munnich, Arnold, Melki, Judith

“…Spinal muscular atrophy (SMA) is a common fatal autosomal recessive disorder characterized by degeneration of lower motor neurons, leading to progressive…”
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Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome by Saugier-Veber, Pascale, Bonnet, Céline, Afenjar, Alexandra, Drouin-Garraud, Valérie, Coubes, Christine, Fehrenbach, Séverine, Holder-Espinasse, Muriel, Roume, Joëlle, Malan, Valérie, Portnoi, Marie-France, Jeanne, Nicolas, Baumann, Clarisse, Héron, Delphine, David, Albert, Gérard, Marion, Bonneau, Dominique, Lacombe, Didier, Cormier-Daire, Valérie, Billette de Villemeur, Thierry, Frébourg, Thierry, Bürglen, Lydie

“…Sotos syndrome is an overgrowth syndrome characterized by distinctive facial features, learning difficulties, and macrocephaly with frequent pre- and postnatal…”
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MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia by Ucuncu, Ekin, Rajamani, Karthyayani, Wilson, Miranda S. C., Medina-Cano, Daniel, Altin, Nami, David, Pierre, Barcia, Giulia, Lefort, Nathalie, Banal, Céline, Vasilache-Dangles, Marie-Thérèse, Pitelet, Gaële, Lorino, Elsa, Rabasse, Nathalie, Bieth, Eric, Zaki, Maha S., Topcu, Meral, Sonmez, Fatma Mujgan, Musaev, Damir, Stanley, Valentina, Bole-Feysot, Christine, Nitschké, Patrick, Munnich, Arnold, Bahi-Buisson, Nadia, Fossoud, Catherine, Giuliano, Fabienne, Colleaux, Laurence, Burglen, Lydie, Gleeson, Joseph G., Boddaert, Nathalie, Saiardi, Adolfo, Cantagrel, Vincent

“…Inositol polyphosphates are vital metabolic and secondary messengers, involved in diverse cellular functions. Therefore, tight regulation of inositol…”
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Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion by Saugier-Veber, Pascale, Doummar, Diane, Barthez, Marie-Anne, Czernecki, Virginie, Drouot, Nathalie, Apartis, Emmanuelle, Bürglen, Lydie, Frebourg, Thierry, Roze, Emmanuel

“…Myoclonus dystonia (M‐D) is a rare genetic movement disorder characterized by a combination of myoclonic jerks and dystonia. It is usually due to mutations in…”
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Structure and Organization of the Human Survival Motor Neurone (SMN) Gene by Bürglen, Lydie, Lefebvre, Suzie, Clermont, Olivier, Burlet, Philippe, Viollet, Louis, Cruaud, Corinne, Munnich, Arnold, Melki, Judith

“…Spinal muscular atrophies (SMA) are characterized by degeneration of the anterior horn cells of the spinal cord and represent the second most common fatal…”
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A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients by Cruaud, Corinne, Lefebvre, Suzie, Munnich, Arnold, Clermont, Olivier, Bürglen, Lydie, Tizzano, Eduardo, Bussaglia, Elena, Melki, Judith, Colomer, Jaume, Baiget, Montserrat, Urtizberea, Jon Andoni

“…Spinal muscular atrophy (SMA) is a frequent autosomal recessive disease characterized by degeneration of the motor neurons of the spinal cord causing proximal…”
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Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects by Ayers, Katie L., Eggers, Stefanie, Rollo, Ben N., Smith, Katherine R., Davidson, Nadia M., Siddall, Nicole A., Zhao, Liang, Bowles, Josephine, Weiss, Karin, Zanni, Ginevra, Burglen, Lydie, Ben-Shachar, Shay, Rosensaft, Jenny, Raas-Rothschild, Annick, Jørgensen, Anne, Schittenhelm, Ralf B., Huang, Cheng, Robevska, Gorjana, van den Bergen, Jocelyn, Casagranda, Franca, Cyza, Justyna, Pachernegg, Svenja, Wright, David K., Bahlo, Melanie, Oshlack, Alicia, O’Brien, Terrence J., Kwan, Patrick, Koopman, Peter, Hime, Gary R., Girard, Nadine, Hoffmann, Chen, Shilon, Yuval, Zung, Amnon, Bertini, Enrico, Milh, Mathieu, Ben Rhouma, Bochra, Belguith, Neila, Bashamboo, Anu, McElreavey, Kenneth, Banne, Ehud, Weintrob, Naomi, BenZeev, Bruria, Sinclair, Andrew H.

“…Squamous cell carcinoma antigen recognized by T cells 3 ( SART3 ) is an RNA-binding protein with numerous biological functions including recycling small…”
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Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals by Margot, Henri, Boursier, Guilaine, Duflos, Claire, Sanchez, Elodie, Amiel, Jeanne, Andrau, Jean-Christophe, Arpin, Stéphanie, Brischoux-Boucher, Elise, Boute, Odile, Burglen, Lydie, Caille, Charlotte, Capri, Yline, Collignon, Patrick, Conrad, Solène, Cormier-Daire, Valérie, Delplancq, Geoffroy, Dieterich, Klaus, Dollfus, Hélène, Fradin, Mélanie, Faivre, Laurence, Fernandes, Helder, Francannet, Christine, Gatinois, Vincent, Gerard, Marion, Goldenberg, Alice, Ghoumid, Jamal, Grotto, Sarah, Guerrot, Anne-Marie, Guichet, Agnès, Isidor, Bertrand, Jacquemont, Marie-Line, Julia, Sophie, Khau Van Kien, Philippe, Legendre, Marine, Le Quan Sang, K. H., Leheup, Bruno, Lyonnet, Stanislas, Magry, Virginie, Manouvrier, Sylvie, Martin, Dominique, Morel, Godelieve, Munnich, Arnold, Naudion, Sophie, Odent, Sylvie, Perrin, Laurence, Petit, Florence, Philip, Nicole, Rio, Marlène, Robbe, Julie, Rossi, Massimiliano, Sarrazin, Elisabeth, Toutain, Annick, Van Gils, Julien, Vera, Gabriella, Verloes, Alain, Weber, Sacha, Whalen, Sandra, Sanlaville, Damien, Lacombe, Didier, Aladjidi, Nathalie, Geneviève, David

“…Purpose Kabuki syndrome (KS) (OMIM 147920 and 300867) is a rare genetic disorder characterized by specific facial features, intellectual disability, and…”
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MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia by Meng, Linyan, Isohanni, Pirjo, Shao, Yunru, Graham, Brett H., Hickey, Scott E., Brooks, Stephanie, Suomalainen, Anu, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Hackenberg, Annette, High, Frances A., Armstrong‐Javors, Amy, Mencacci, Niccolò E., Gonzàlez‐Latapi, Paulina, Kamel, Walaa A., Al‐Hashel, Jasem Y., Bustos, Bernabé I., Hernandez, Alejandro V., Krainc, Dimitri, Lubbe, Steven J., Van Esch, Hilde, De Luca, Chiara, Ballon, Katleen, Ravelli, Claudia, Burglen, Lydie, Qebibo, Leila, Calame, Daniel G., Mitani, Tadahiro, Marafi, Dana, Pehlivan, Davut, Saadi, Nebal W., Sahin, Yavuz, Maroofian, Reza, Efthymiou, Stephanie, Houlden, Henry, Maqbool, Shazia, Rahman, Fatima, Gu, Shen, Posey, Jennifer E., Lupski, James R., Hunter, Jill V., Wangler, Michael F., Carroll, Christopher J., Yang, Yaping

“…The Mediator multiprotein complex functions as a regulator of RNA polymerase II–catalyzed gene transcription. In this study, exome sequencing detected…”
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Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects by Ayers, Katie L., Eggers, Stefanie, Rollo, Ben N., Smith, Katherine R., Davidson, Nadia M., Siddall, Nicole A., Zhao, Liang, Bowles, Josephine, Weiss, Karin, Zanni, Ginevra, Burglen, Lydie, Ben-Shachar, Shay, Rosensaft, Jenny, Raas-Rothschild, Annick, Jørgensen, Anne, Schittenhelm, Ralf B., Huang, Cheng, Robevska, Gorjana, van den Bergen, Jocelyn, Casagranda, Franca, Cyza, Justyna, Pachernegg, Svenja, Wright, David K., Bahlo, Melanie, Oshlack, Alicia, O’Brien, Terrence J., Kwan, Patrick, Koopman, Peter, Hime, Gary R., Girard, Nadine, Hoffmann, Chen, Shilon, Yuval, Zung, Amnon, Bertini, Enrico, Milh, Mathieu, Ben Rhouma, Bochra, Belguith, Neila, Bashamboo, Anu, McElreavey, Kenneth, Banne, Ehud, Weintrob, Naomi, BenZeev, Bruria, Sinclair, Andrew H.

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Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders by Burglen, Lydie, Van Hoeymissen, Evelien, Qebibo, Leila, Barth, Magalie, Belnap, Newell, Boschann, Felix, Depienne, Christel, De Clercq, Katrien, Douglas, Andrew G L, Fitzgerald, Mark P, Foulds, Nicola, Garel, Catherine, Helbig, Ingo, Held, Katharina, Horn, Denise, Janssen, Annelies, Kaindl, Angela M, Narayanan, Vinodh, Prager, Christina, Rupin-Mas, Mailys, Afenjar, Alexandra, Zhao, Siyuan, Ramaekers, Vincent Th, Ruggiero, Sarah M, Thomas, Simon, Valence, Stéphanie, Van Maldergem, Lionel, Rohacs, Tibor, Rodriguez, Diana, Dyment, David, Voets, Thomas, Vriens, Joris

“…TRPM3 is a temperature- and neurosteroid-sensitive plasma membrane cation channel expressed in a variety of neuronal and non-neuronal cells. Recently, rare de…”
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Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome by Thibaud, Nathalie, Netchine, Irène, Merrer, Martine Le, Steunou, Virginie, Bouc, Yves Le, Bertrand, Anne-Marie, Danton, Fabienne, Cabrol, Sylvie, Gicquel, Christine, Houang, Muriel, Burglen, Lydie, Rossignol, Sylvie, Barbu, Véronique

“…Silver-Russell syndrome (SRS, OMIM 180860) is a congenital disorder characterized by severe intrauterine and postnatal growth retardation, dysmorphic facial…”
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Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival by Coulter, Michael E., Musaev, Damir, DeGennaro, Ellen M., Zhang, Xiaochang, Henke, Katrin, James, Kiely N., Smith, Richard S., Hill, R. Sean, Partlow, Jennifer N., Muna Al-Saffar, Kamumbu, A. Stacy, Hatem, Nicole, Barkovich, A. James, Aziza, Jacqueline, Chassaing, Nicolas, Zaki, Maha S., Sultan, Tipu, Burglen, Lydie, Rajab, Anna, Al-Gazali, Lihadh, Mochida, Ganeshwaran H., Harris, Matthew P., Gleeson, Joseph G., Walsh, Christopher A.

“…Purpose The exocyst complex is a conserved protein complex that mediates fusion of intracellular vesicles to the plasma membrane and is implicated in processes…”
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Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders by Depienne, Christel, Moreno-De-Luca, Daniel, Heron, Delphine, Bouteiller, Delphine, Gennetier, Aurélie, Delorme, Richard, Chaste, Pauline, Siffroi, Jean-Pierre, Chantot-Bastaraud, Sandra, Benyahia, Baya, Trouillard, Oriane, Nygren, Gudrun, Kopp, Svenny, Johansson, Maria, Rastam, Maria, Burglen, Lydie, Leguern, Eric, Verloes, Alain, Leboyer, Marion, Brice, Alexis, Gillberg, Christopher, Betancur, Catalina

“…Background Maternally derived duplications of the 15q11-q13 region are the most frequently reported chromosomal aberrations in autism spectrum disorders (ASD)…”
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Phenotypic Spectrum of Simpson-Golabi-Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature by COTTEREAU, EDOUARD, MORTEMOUSQUE, ISABELLE, MOIZARD, MARIE-PIERRE, BÜRGLEN, LYDIE, LACOMBE, DIDIER, GILBERT-DUSSARDIER, BRIGITTE, SIGAUDY, SABINE, BOUTE, ODILE, DAVID, ALBERT, FAIVRE, LAURENCE, AMIEL, JEANNE, ROBERTSON, ROBERT, VIANA RAMOS, FABIANA, BIETH, ERIC, ODENT, SYLVIE, DEMEER, BÉNÉDICTE, MATHIEU, MICHÉLE, GAILLARD, DOMINIQUE, VAN MALDERGEM, LIONEL, BAUJAT, GENEVIÉVE, MAYSTADT, ISABELLE, HÉRON, DELPHINE, VERLOES, ALAIN, PHILIP, NICOLE, CORMIER-DAIRE, VALÉRIE, FROUTÉ, MARIE-FRANÇOISE, PINSON, LUCILE, BLANCHET, PATRICIA, SARDA, PIERRE, WILLEMS, MARJOLAINE, JACQUINET, ADELINE, RATBI, ILHAM, VAN DEN ENDE, JENNEKE, LACKMY-PORT LIS, MARYLIN, GOLDENBERG, ALICE, BONNEAU, DOMINIQUE, ROSSIGNOL, SYLVIE, TOUTAIN, ANNICK

“…Simpson–Golabi–Behmel syndrome (SGBS) is a rare X‐linked multiple congenital abnormality/intellectual disability syndrome characterized by pre‐ and post‐natal…”
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Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient by Burglen, Lydie, Chantot-Bastaraud, Sandra, Garel, Catherine, Milh, Mathieu, Touraine, Renaud, Zanni, Ginevra, Petit, Florence, Afenjar, Alexandra, Goizet, Cyril, Barresi, Sabina, Coussement, Aurélie, Ioos, Christine, Lazaro, Leila, Joriot, Sylvie, Desguerre, Isabelle, Lacombe, Didier, des Portes, Vincent, Bertini, Enrico, Siffroi, Jean-Pierre, de Villemeur, Thierry Billette, Rodriguez, Diana

“…Pontocerebellar hypoplasia (PCH) is a heterogeneous group of diseases characterized by lack of development and/or early neurodegeneration of cerebellum and…”
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Finger creases lend a hand in Kabuki syndrome by Michot, Caroline, Corsini, Carole, Sanlaville, Damien, Baumann, Clarisse, Toutain, Annick, Philip, Nicole, Busa, Tiffany, Holder, Muriel, Faivre, Laurence, Odent, Sylvie, Delrue, Marie-Ange, Till, Marianne, Jacquemont, Marie-Line, Cordier, Marie-Pierre, Goldenberg, Alice, Sanchez, Elodie, Alix, Eudeline, Poisson, Sylvain, Kayirangwa, Honorine, Lacombe, Didier, Gilbert-Dussardier, Brigitte, Pelet, Anna, Roume, Joëlle, Jacquette, Aurélia, Isidor, Bertrand, Giuliano, Fabienne, Burglen, Lydie, Fradin, Mélanie, Schaefer, Elise, Alembick, Yves, Doray, Bérénice, Moncla, Anne, Héron, Delphine, Willems, Marjolaine, Pinson, Lucile, Le Quan Sang, Kim Hanh, Le Merrer, Martine, Cormier-Daire, Valérie, Sarda, Pierre, Amiel, Jeanne, Lyonnet, Stanislas, Geneviève, David

“…Abstract Kabuki syndrome (KS) is a rare syndrome associating malformations with intellectual deficiency and numerous visceral, orthopedic, endocrinological,…”
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Childhood‐onset progressive dystonia associated with pathogenic truncating variants in CHD8 by Doummar, Diane, Treven, Marco, Qebibo, Leila, Devos, David, Ghoumid, Jamal, Ravelli, Claudia, Kranz, Gottfried, Krenn, Martin, Demailly, Diane, Cif, Laura, Davion, Jean‐Baptiste, Zimprich, Fritz, Burglen, Lydie, Zech, Michael

“…Originally described as a risk factor for autism, CHD8 loss‐of‐function variants have recently been associated with a wider spectrum of neurodevelopmental…”
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Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome by Tonduti, Davide, MD, Orcesi, Simona, MD, Jenkinson, Emma M., BSc, PhD, Dorboz, Imen, PhD, Renaldo, Florence, MD, Panteghini, Celeste, MSC, Rice, Gillian I., BSc, PhD, Henneke, Marco, MD, Livingston, John H., MBCHB, FRCP, FRCPCH, Elmaleh, Monique, MD, Burglen, Lydie, PhD, Willemsen, Michèl AAP., MD, Chiapparini, Luisa, MD, Garavaglia, Barbara, PhD, Rodriguez, Diana, PhD, Boespflug-Tanguy, Odile, PhD, Moroni, Isabella, MD, Crow, Yanick J., MD, PhD

“…Abstract Background: Cystic leukoencephalopathy without megalencephaly is a disorder related in some cases to RNASET2 mutations and characterized by bilateral…”
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