Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability
Anikster, Yair, Haack, Tobias B., Vilboux, Thierry, Pode-Shakked, Ben, Thöny, Beat, Shen, Nan, Guarani, Virginia, Meissner, Thomas, Mayatepek, Ertan, Trefz, Friedrich K., Marek-Yagel, Dina, Martinez, Aurora, Huttlin, Edward L., Paulo, Joao A., Berutti, Riccardo, Benoist, Jean-François, Imbard, Apolline, Dorboz, Imen, Heimer, Gali, Landau, Yuval, Ziv-Strasser, Limor, Malicdan, May Christine V., Gemperle-Britschgi, Corinne, Cremer, Kirsten, Engels, Hartmut, Meili, David, Keller, Irene, Bruggmann, Rémy, Strom, Tim M., Meitinger, Thomas, Mullikin, James C., Schwartz, Gerard, Ben-Zeev, Bruria, Gahl, William A., Harper, J. Wade, Blau, Nenad, Hoffmann, Georg F., Prokisch, Holger, Opladen, Thomas, Schiff, Manuel
Published in American journal of human genetics (02.02.2017)
Published in American journal of human genetics (02.02.2017)
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QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease
Guarani, Virginia, Jardel, Claude, Chrétien, Dominique, Lombès, Anne, Bénit, Paule, Labasse, Clémence, Lacène, Emmanuelle, Bourillon, Agnès, Imbard, Apolline, Benoist, Jean-François, Dorboz, Imen, Gilleron, Mylène, Goetzman, Eric S, Gaignard, Pauline, Slama, Abdelhamid, Elmaleh-Bergès, Monique, Romero, Norma B, Rustin, Pierre, Ogier de Baulny, Hélène, Paulo, Joao A, Harper, J Wade, Schiff, Manuel
Published in eLife (13.09.2016)
Published in eLife (13.09.2016)
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Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy
Bernard, Geneviève, Chouery, Eliane, Putorti, Maria Lisa, Tétreault, Martine, Takanohashi, Asako, Carosso, Giovanni, Clément, Isabelle, Boespflug-Tanguy, Odile, Rodriguez, Diana, Delague, Valérie, Abou Ghoch, Joelle, Jalkh, Nadine, Dorboz, Imen, Fribourg, Sebastien, Teichmann, Martin, Megarbane, André, Schiffmann, Raphael, Vanderver, Adeline, Brais, Bernard
Published in American journal of human genetics (09.09.2011)
Published in American journal of human genetics (09.09.2011)
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Journal Article
Novel variants causing megalencephalic leukodystrophy in Sudanese families
Amin, Mutaz, Vignal, Cedric, Hamed, Ahlam A A, Mohammed, Inaam N, Elseed, Maha A, Drunat, Severine, Babai, Arwa, Eltaraifee, Esraa, Elbadi, Iman, Abubaker, Rayan, Mustafa, Doaa, Yahia, Ashraf, Koko, Mahmoud, Osman, Melka, Bakhit, Yousuf, Elshafea, Azza, Alsiddig, Mohamed, Haroun, Sahwah, Lelay, Gurvan, Elsayed, Liena E O, Ahmed, Ammar E, Boespflug-Tanguy, Odile, Dorboz, Imen
Published in Journal of human genetics (01.03.2022)
Published in Journal of human genetics (01.03.2022)
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Journal Article
KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature
Ardissone, Anna, Tonduti, Davide, Legati, Andrea, Lamantea, Eleonora, Barone, Rita, Dorboz, Imen, Boespflug-Tanguy, Odile, Nebbia, Gabriella, Maggioni, Marco, Garavaglia, Barbara, Moroni, Isabella, Farina, Laura, Pichiecchio, Anna, Orcesi, Simona, Chiapparini, Luisa, Ghezzi, Daniele
Published in Orphanet journal of rare diseases (04.04.2018)
Published in Orphanet journal of rare diseases (04.04.2018)
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Journal Article
Expanding and Underscoring the Hepato‐Encephalopathic Phenotype of QIL1/MIC13
Russell, Bianca E., Whaley, Kaitlin G., Bove, Kevin E., Labilloy, Anatalia, Lombardo, Rachel C., Hopkin, Robert J., Leslie, Nancy D., Prada, Carlos, Assouline, Zahra, Barcia, Giulia, Bouchereau, Juliette, Chomton, Maryline, Debray, Dominique, Dorboz, Imen, Durand, Philippe, Gaignard, Pauline, Habes, Dalila, Jardel, Claude, Labarthe, François, Lévy, Jonathan, Lombès, Anne, Mehler‐Jacob, Claire, Melki, Judith, Menvielle, Laura, Munnich, Arnold, Mussini, Charlotte, Pichard, Samia, Rio, Marlène, Rötig, Agnès, Sissaoui, Samira, Slama, Abdelhamid, Miethke, Alexander G, Schiff, Manuel
Published in Hepatology (Baltimore, Md.) (01.09.2019)
Published in Hepatology (Baltimore, Md.) (01.09.2019)
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A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability
Amin, Mutaz, Vignal, Cedric, Eltaraifee, Esraa, Mohammed, Inaam N, Hamed, Ahlam A. A, Elseed, Maha A, Babai, Arwa, Elbadi, Iman, Mustafa, Doua, Abubaker, Rayan, Mustafa, Mohamed, Drunat, Severine, Elsayed, Liena E. O, Ahmed, Ammar E, Boespflug-Tanguy, Odile, Dorboz, Imen
Published in BMC medical genomics (08.11.2022)
Published in BMC medical genomics (08.11.2022)
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Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome
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
Published in European journal of paediatric neurology (01.07.2016)
Published in European journal of paediatric neurology (01.07.2016)
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Journal Article
Case Report: A New Family With Pontocerebellar Hypoplasia 10 From Sudan
Amin, Mutaz, Vignal, Cedric, Hamed, Ahlam A. A., Mohammed, Inaam N., Elseed, Maha A., Abubaker, Rayan, Bakhit, Yousuf, Babai, Arwa, Elbadi, Eman, Eltaraifee, Esraa, Mustafa, Doua, Yahia, Ashraf, Osman, Melka, Koko, Mahmoud, Mustafa, Mohamed, Alsiddig, Mohamed, Haroun, Sahwah, Elshafea, Azza, Drunat, Severine, Elsayed, Liena E. O., Ahmed, Ammar E., Boespflug-Tanguy, Odile, Dorboz, Imen
Published in Frontiers in genetics (02.06.2022)
Published in Frontiers in genetics (02.06.2022)
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Journal Article
New spastic paraplegia phenotype associated to mutation of NFU1
Tonduti, Davide, Dorboz, Imen, Imbard, Apolline, Slama, Abdelhamid, Boutron, Audrey, Pichard, Samia, Elmaleh, Monique, Vallée, Louis, Benoist, Jean François, Ogier, Heléne, Boespflug-Tanguy, Odile
Published in Orphanet journal of rare diseases (08.02.2015)
Published in Orphanet journal of rare diseases (08.02.2015)
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Journal Article
Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness
Riahi, Zied, Bonnet, Crystel, Zainine, Rim, Louha, Malek, Bouyacoub, Yosra, Laroussi, Nadia, Chargui, Mariem, Kefi, Rym, Jonard, Laurence, Dorboz, Imen, Hardelin, Jean-Pierre, Salah, Sihem Belhaj, Levilliers, Jacqueline, Weil, Dominique, McElreavey, Kenneth, Boespflug, Odile Tanguy, Besbes, Ghazi, Abdelhak, Sonia, Petit, Christine
Published in PloS one (13.06.2014)
Published in PloS one (13.06.2014)
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Journal Article
Genome sequencing in persistently unsolved white matter disorders
Helman, Guy, Lajoie, Bryan R., Crawford, Joanna, Takanohashi, Asako, Walkiewicz, Marzena, Dolzhenko, Egor, Gross, Andrew M., Gainullin, Vladimir G., Bent, Stephen J., Jenkinson, Emma M., Ferdinandusse, Sacha, Waterham, Hans R., Dorboz, Imen, Bertini, Enrico, Miyake, Noriko, Wolf, Nicole I., Abbink, Truus E. M., Kirwin, Susan M., Tan, Christina M., Hobson, Grace M., Guo, Long, Ikegawa, Shiro, Pizzino, Amy, Schmidt, Johanna L., Bernard, Genevieve, Schiffmann, Raphael, Knaap, Marjo S., Simons, Cas, Taft, Ryan J., Vanderver, Adeline
Published in Annals of clinical and translational neurology (01.01.2020)
Published in Annals of clinical and translational neurology (01.01.2020)
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Journal Article
Novel POLR1C mutation in RNA polymerase III‐related leukodystrophy with severe myoclonus and dystonia
Kraoua, Ichraf, Karkar, Adnane, Drissi, Cyrine, Benrhouma, Hanene, Klaa, Hedia, Samaan, Simon, Renaldo, Florence, Elmaleh, Monique, Ben Hamouda, Mohamed, Abdelhak, Sonia, Boespflug‐Tanguy, Odile, Ben Youssef‐Turki, Ilfghem, Dorboz, Imen
Published in Molecular genetics & genomic medicine (01.09.2019)
Published in Molecular genetics & genomic medicine (01.09.2019)
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Journal Article
Role of Decreased Levels of Fis Histone-Like Protein in Crohn's Disease-Associated Adherent Invasive Escherichia coli LF82 Bacteria Interacting with Intestinal Epithelial Cells
MIQUEL, Sylvie, CLARET, Laurent, BONNET, Richard, DORBOZ, Imen, BARNICH, Nicolas, DARFEUILLE-MICHAUD, Arlette
Published in Journal of Bacteriology (01.04.2010)
Published in Journal of Bacteriology (01.04.2010)
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Journal Article
Transient neonatal renal failure and massive polyuria in MEGDEL syndrome
Harbulot, Carole, Paquay, Stéphanie, Dorboz, Imen, Pichard, Samia, Bourillon, Agnès, Benoist, Jean-François, Jardel, Claude, Ogier de Baulny, Hélène, Boespflug-Tanguy, Odile, Schiff, Manuel
Published in Molecular genetics and metabolism reports (01.06.2016)
Published in Molecular genetics and metabolism reports (01.06.2016)
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Journal Article
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy
Pant, Devesh C, Dorboz, Imen, Schluter, Agatha, Fourcade, Stéphane, Launay, Nathalie, Joya, Javier, Aguilera-Albesa, Sergio, Yoldi, Maria Eugenia, Casasnovas, Carlos, Willis, Mary J, Ruiz, Montserrat, Ville, Dorothée, Lesca, Gaetan, Siquier-Pernet, Karine, Desguerre, Isabelle, Yan, Huifang, Wang, Jingmin, Burmeister, Margit, Brady, Lauren, Tarnopolsky, Mark, Cornet, Carles, Rubbini, Davide, Terriente, Javier, James, Kiely N, Musaev, Damir, Zaki, Maha S, Patterson, Marc C, Lanpher, Brendan C, Klee, Eric W, Pinto E Vairo, Filippo, Wohler, Elizabeth, Sobreira, Nara Lygia de M, Cohen, Julie S, Maroofian, Reza, Galehdari, Hamid, Mazaheri, Neda, Shariati, Gholamreza, Colleaux, Laurence, Rodriguez, Diana, Gleeson, Joseph G, Pujades, Cristina, Fatemi, Ali, Boespflug-Tanguy, Odile, Pujol, Aurora
Published in The Journal of clinical investigation (01.03.2019)
Published in The Journal of clinical investigation (01.03.2019)
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Journal Article
Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy
Dorboz, Imen, Aiello, Chiara, Simons, Cas, Stone, Robert Thompson, Niceta, Marcello, Elmaleh, Monique, Abuawad, Mohammad, Doummar, Diane, Bruselles, Alessandro, Wolf, Nicole I, Travaglini, Lorena, Boespflug-Tanguy, Odile, Tartaglia, Marco, Vanderver, Adeline, Rodriguez, Diana, Bertini, Enrico
Published in Brain (London, England : 1878) (01.10.2017)
Published in Brain (London, England : 1878) (01.10.2017)
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Journal Article
Mutation in the AGK gene in two siblings with unusual Sengers syndrome
Allali, Sanae, Dorboz, Imen, Samaan, Simon, Slama, Abdelhamid, Rambaud, Charlène, Boespflug-Tanguy, Odile, Sarret, Catherine
Published in Metabolic brain disease (01.12.2017)
Published in Metabolic brain disease (01.12.2017)
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Journal Article
Evaluation of CSF1R‐related adult onset leukoencephalopathy with axonal spheroids and pigmented glia diagnostic criteria
Ayrignac, Xavier, Carra‐Dallière, Clarisse, Codjia, Pekes, Mouzat, Kevin, Castelnovo, Giovanni, Ellie, Emmanuel, Etcharry‐Bouyx, Frédérique, Belliard, Serge, Marelli, Cecilia, Portet, Florence, Le Ber, Isabelle, Durand‐Dubief, Francoise, Mathey, Guillaume, Stankoff, Bruno, Dorboz, Imen, Drunat, Severine, Boespflug‐Tanguy, Odile, Menjot de Champfleur, Nicolas, Lumbroso, Serge, Mochel, Fanny, Labauge, Pierre
Published in European journal of neurology (01.01.2022)
Published in European journal of neurology (01.01.2022)
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