RNF170‐Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation
Sainte Agathe, Jean‐Madeleine, Mercier, Sandra, Mahé, Jean‐Yves, Péréon, Yann, Buratti, Julien, Tissier, Laurène, Kol, Bophara, Said, Samia Ait, Leguern, Éric, Banneau, Guillaume, Stévanin, Giovanni
Published in Movement disorders (01.03.2021)
Published in Movement disorders (01.03.2021)
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Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations
Mercier, Sandra, Küry, Sébastien, Salort-Campana, Emmanuelle, Magot, Armelle, Agbim, Uchenna, Besnard, Thomas, Bodak, Nathalie, Bou-Hanna, Chantal, Bréhéret, Flora, Brunelle, Perrine, Caillon, Florence, Chabrol, Brigitte, Cormier-Daire, Valérie, David, Albert, Eymard, Bruno, Faivre, Laurence, Figarella-Branger, Dominique, Fleurence, Emmanuelle, Ganapathi, Mythily, Gherardi, Romain, Goldenberg, Alice, Hamel, Antoine, Igual, Jeanine, Irvine, Alan D, Israël-Biet, Dominique, Kannengiesser, Caroline, Laboisse, Christian, Le Caignec, Cédric, Mahé, Jean-Yves, Mallet, Stéphanie, MacGowan, Stuart, McAleer, Maeve A, McLean, Irwin, Méni, Cécile, Munnich, Arnold, Mussini, Jean-Marie, Nagy, Peter L, Odel, Jeffrey, O'Regan, Grainne M, Péréon, Yann, Perrier, Julie, Piard, Juliette, Puzenat, Eve, Sampson, Jacinda B, Smith, Frances, Soufir, Nadem, Tanji, Kurenai, Thauvin, Christel, Ulane, Christina, Watson, Rosemarie M, Khumalo, Nonhlanhla P, Mayosi, Bongani M, Barbarot, Sébastien, Bézieau, Stéphane
Published in Orphanet journal of rare diseases (15.10.2015)
Published in Orphanet journal of rare diseases (15.10.2015)
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Poïkilodermie héréditaire fibrosante, myopathie rétractile et fibrose pulmonaire (POIKTMP): Une pathologie multisystémique liée à des mutations dans le gène FAM111B
Mercier, Sandra, Küry, Sébastien, Magot, Armelle, Salort-Campana, Emmanuelle, Caillon, Florence, Fleurence, Emmanuelle, Perrier, Julie, Mahé, Jean-Yves, Péréon, Yann, Barbarot, Sébastien, Bézieau, Stéphane
Published in Les Cahiers de Myologie (01.06.2016)
Published in Les Cahiers de Myologie (01.06.2016)
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