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Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study
Freihuber, Cécile, Dahmani-Rabehi, Bahia, Brassier, Anaïs, Broué, Pierre, Cances, Claude, Chabrol, Brigitte, Eyer, Didier, Labarthe, François, Latour, Philippe, Levade, Thierry, Pichard, Samia, Sevin, Caroline, Vanier, Marie T., Héron, Bénédicte
Published in Orphanet journal of rare diseases (21.07.2023)
Published in Orphanet journal of rare diseases (21.07.2023)
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Journal Article
Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis
Cogan, Guillaume, Zaki, Maha S., Issa, Mahmoud, Keren, Boris, Guillaud-Bataille, Marine, Renaldo, Florence, Isapof, Arnaud, Lallemant, Pauline, Stevanin, Giovanni, Guillot-Noel, Lena, Courtin, Thomas, Buratti, Julien, Freihuber, Cécile, Gleeson, Joseph G., Howarth, Robyn, Durr, Alexandra, de Sainte Agathe, Jean-Madeleine, Mignot, Cyril
Published in Human genetics (01.11.2024)
Published in Human genetics (01.11.2024)
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Journal Article
Characterization of novel CACNA1A splice variants by RNA‐sequencing in patients with episodic or congenital ataxia
Riant, Florence, Burglen, Lydie, Corpechot, Michaelle, Robert, Julien, Durr, Alexandra, Solé, Guilhem, Petit, Florence, Freihuber, Cécile, De Marco, Olivier, Sarret, Catherine, Castelnovo, Giovanni, Devillard, Françoise, Afenjar, Alexandra, Héron, Bénédicte, Lasserve, Elisabeth Tournier
Published in Clinical genetics (01.09.2023)
Published in Clinical genetics (01.09.2023)
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Journal Article
Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures
Maljevic, Snezana, Keren, Boris, Aung, Ye Htet, Forster, Ian C, Mignot, Cyril, Buratti, Julien, Lafitte, Aurélie, Freihuber, Cécile, Rodan, Lance H, Bergin, Ann, Hubert, Laurence, Poirier, Karine, Munnich, Arnold, Besmond, Claude, Hauser, Natalie, Miller, Rebecca, McWalter, Kirsty, Nabbout, Rima, Héron, Delphine, Leguern, Eric, Depienne, Christel, Petrou, Steven, Nava, Caroline
Published in Brain (London, England : 1878) (01.05.2019)
Published in Brain (London, England : 1878) (01.05.2019)
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Journal Article
Lessons learned from 40 novel PIGA subjects and a review of the literature
Bayat, Allan, Knaus, Alexej, Pendziwiat, Manuela, Afenjar, Alexandra, Barakat, Tahsin Stefan, Bosch, Friedrich, Callewaert, Bert, Calvas, Patrick, Ceulemans, Berten, Chassaing, Nicolas, Depienne, Christel, Endziniene, Milda, Ferreira, Carlos R., de Souza, Carolina Fischinger Moura, Freihuber, Cécile, Ganesan, Shiva, Gataullina, Svetlana, Guerrini, Renzo, Guerrot, Anne-Marie, Hansen, Lars, Jezela-Stanek, Aleksandra, Karsenty, Caroline, Kievit, Anneke, Kooy, Frank R., Korff, Christian M., Hansen, Johanne Kragh, Larsen, Martin, Layet, Valérie, Lesca, Gaetan, McBride, Kim L., Meuwissen, Marije, Mignot, Cyril, Montomoli, Martino, Moore, Hannah, Naudion, Sophie, Nava, Caroline, Nougues, Marie-Christine, Parrini, Elena, Pastore, Matthew, Schelhaas, Jurgen H., Skinner, Steven, Szczałuba, Krzysztoł, Thomas, Ashley, Thomassen, Mads, Tranebjærg, Lisbeth, van Slegtenhorst, Marjon, Wolfe, Lynne A., Lal, Dennis, Gardella, Elena, Ousager, Lilian Bomme, Brünger, Tobias, Helbig, Ingo, Krawitz, Peter, Møller, Rikke S.
Published in Epilepsia (Copenhagen) (26.05.2020)
Published in Epilepsia (Copenhagen) (26.05.2020)
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Journal Article
Impact of severe polyhandicap cared for at home on French informal caregivers’ burden: a cross-sectional study
Rousseau, Marie-Christine, Baumstarck, Karine, Valkov, Maria, Felce, Agnés, Brisse, Catherine, Khaldi-Cherif, Sherezad, Loundou, Anderson, Auquier, Pascal, Billette de Villemeur, Thierry, Leroy, Tanguy, Haddadou, Souhali, Freihuber, Cécile, Bonheur, Julie, Valence, Stéphanie, Nougues, Marie-Christine, Luciani, Laurent, Nouet, Jean-Pierre, Coiffier, Catherine, Sellier, Philippe, Mathieu, Sophie, Ardati, Moustafa, Héron, Delphine, Afenjar, Alexandra, Rodriguez, Diana, Doummar, Diana, Moutard, Marie-Laure, Willocq, Daniel, Pietra, Stéphane, Lenormand, Stéphane, Grimont, Elizabeth
Published in BMJ open (02.02.2020)
Published in BMJ open (02.02.2020)
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Journal Article
Impact of severe polyhandicap on parents’ quality of life: A large French cross-sectional study
Rousseau, Marie-Christine, Baumstarck, Karine, Khaldi-Cherif, Sherezad, Brisse, Catherine, Felce, Agnès, Moheng, Benjamin, Loundou, Anderson, Billette de Villemeur, Thierry, Auquier, Pascal
Published in PloS one (04.02.2019)
Published in PloS one (04.02.2019)
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Journal Article
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: A national French retrospective study
Freihuber, Cecile, Dahmani, Bahia, Brassier, Anais, Broue, Pierre, Cances, Claude, Chabrol, Brigitte, Eyer, Didier, Labarthe, Fancois, Latour, Philippe, Levade, Thierry, Pichard, Samia, Sevin, Caroline, Vanier, Marie Therese, Heron, Benedicte
Published in Molecular genetics and metabolism (01.02.2018)
Published in Molecular genetics and metabolism (01.02.2018)
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Journal Article
Polyhandicap and aging
Rousseau, Marie-Christine, de Villemeur, Thierry Billette, Khaldi-Cherif, Sherezad, Brisse, Catherine, Felce, Agnès, Loundou, Anderson, Baumstarck, Karine, Auquier, Pascal, Leroy, Tanguy, Haddadou, S., Freihuber, C., Amalou, S., Bonheur, J., Valence, S., Nougues, M.C., Luciani, L., Nouet, J.P., Coiffier, C., Sellier, P., Julien, P., Grasset, J.C., Delvert, S., Gaulard, M., Belorgey, A., Si Abdelkader, H., Mathieu, S., Ardati, M., Kammache, I., Héron, B., Isapof, A., Afenjar, A., Maincent, K., Rodriguez, D., Doummar, D., Phan, M.H., Moutard, M.L., Willocq, D., Valkov, M., Teulade, J., Pietra, S., Grimont, E., Lenormand, S., Laracca, E., Aynie, V.
Published in Disability and health journal (01.10.2019)
Published in Disability and health journal (01.10.2019)
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Journal Article