Search Results - "GAUSSEN, Marion"

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations by KLEBEL, Stephan, LOSSOS, Alexander, RASTETTER, Agnes, MARTIN, Elodie, BOUTEILLER, Delphine, ORLANDO, Laurent, GYAPAY, Gabor, EL-HACHIMI, Khalid H, ZIMMERMAN, Batel, GAMLIEL, Moriya, MISK, Adel, LERER, Israela, AZZEDINE, Hamid, BRICE, Alexis, DURR, Alexandra, STEVANIN, Giovanni, MUNDWILLER, Emeline, SHEFFER, Ruth, GAUSSEN, Marion, MARELLI, Cecilia, NAWARA, Magdalena, CARPENTIER, Wassila, MEYER, Vincent

“…The hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurodegenerative diseases characterised by progressive…”
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Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia by Boukhris, Amir, Schule, Rebecca, Loureiro, José L., Lourenço, Charles Marques, Mundwiller, Emeline, Gonzalez, Michael A., Charles, Perrine, Gauthier, Julie, Rekik, Imen, Acosta Lebrigio, Rafael F., Gaussen, Marion, Speziani, Fiorella, Ferbert, Andreas, Feki, Imed, Caballero-Oteyza, Andrés, Dionne-Laporte, Alexandre, Amri, Mohamed, Noreau, Anne, Forlani, Sylvie, Cruz, Vitor T., Mochel, Fanny, Coutinho, Paula, Dion, Patrick, Mhiri, Chokri, Schols, Ludger, Pouget, Jean, Darios, Frédéric, Rouleau, Guy A., Marques, Wilson, Brice, Alexis, Durr, Alexandra, Zuchner, Stephan, Stevanin, Giovanni

“…Hereditary spastic paraplegias (HSPs) form a heterogeneous group of neurological disorders. A whole-genome linkage mapping effort was made with three…”
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Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia by Coutelier, Marie, Goizet, Cyril, Durr, Alexandra, Habarou, Florence, Morais, Sara, Dionne-Laporte, Alexandre, Tao, Feifei, Konop, Juliette, Stoll, Marion, Charles, Perrine, Jacoupy, Maxime, Matusiak, Raphaël, Alonso, Isabel, Tallaksen, Chantal, Mairey, Mathilde, Kennerson, Marina, Gaussen, Marion, Schule, Rebecca, Janin, Maxime, Morice-Picard, Fanny, Durand, Christelle M, Depienne, Christel, Calvas, Patrick, Coutinho, Paula, Saudubray, Jean-Marie, Rouleau, Guy, Brice, Alexis, Nicholson, Garth, Darios, Frédéric, Loureiro, José L, Zuchner, Stephan, Ottolenghi, Chris, Mochel, Fanny, Stevanin, Giovanni

“…Hereditary spastic paraplegias are heterogeneous neurological disorders characterized by a pyramidal syndrome with symptoms predominantly affecting the lower…”
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POLG2 deficiency causes adult‐onset syndromic sensory neuropathy, ataxia and parkinsonism by Van Maldergem, Lionel, Besse, Arnaud, De Paepe, Boel, Blakely, Emma L., Appadurai, Vivek, Humble, Margaret M., Piard, Juliette, Craig, Kate, He, Langping, Hella, Pierre, Debray, François‐Guillaume, Martin, Jean‐Jacques, Gaussen, Marion, Laloux, Patrice, Stevanin, Giovanni, Van Coster, Rudy, Taylor, Robert W., Copeland, William C., Mormont, Eric, Bonnen, Penelope E.

“…Objective Mitochondrial dysfunction plays a key role in the pathophysiology of neurodegenerative disorders such as ataxia and Parkinson's disease. We describe…”
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KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction by Dor, Talya, Cinnamon, Yuval, Raymond, Laure, Shaag, Avraham, Bouslam, Naima, Bouhouche, Ahmed, Gaussen, Marion, Meyer, Vincent, Durr, Alexandra, Brice, Alexis, Benomar, Ali, Stevanin, Giovanni, Schuelke, Markus, Edvardson, Simon

“…Hereditary spastic paraparesis (HSP) (syn. Hereditary spastic paraplegia, SPG) are a group of genetic disorders characterised by spasticity of the lower limbs…”
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Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia by Lossos, Alexander, Stümpfig, Claudia, Stevanin, Giovanni, Gaussen, Marion, Zimmerman, Bat-El, Mundwiller, Emeline, Asulin, Moriya, Chamma, Liat, Sheffer, Ruth, Misk, Adel, Dotan, Shlomo, Gomori, John M, Ponger, Penina, Brice, Alexis, Lerer, Israela, Meiner, Vardiella, Lill, Roland

“…OBJECTIVE:To present the clinical, molecular, and cell biological findings in a family with an autosomal recessive form of hereditary spastic paraplegia…”
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ELOVL5 Mutations Cause Spinocerebellar Ataxia 38 by Di Gregorio, Eleonora, Borroni, Barbara, Giorgio, Elisa, Lacerenza, Daniela, Ferrero, Marta, Lo Buono, Nicola, Ragusa, Neftj, Mancini, Cecilia, Gaussen, Marion, Calcia, Alessandro, Mitro, Nico, Hoxha, Eriola, Mura, Isabella, Coviello, Domenico A., Moon, Young-Ah, Tesson, Christelle, Vaula, Giovanna, Couarch, Philippe, Orsi, Laura, Duregon, Eleonora, Papotti, Mauro Giulio, Deleuze, Jean-François, Imbert, Jean, Costanzi, Chiara, Padovani, Alessandro, Giunti, Paola, Maillet-Vioud, Marcel, Durr, Alexandra, Brice, Alexis, Tempia, Filippo, Funaro, Ada, Boccone, Loredana, Caruso, Donatella, Stevanin, Giovanni, Brusco, Alfredo

“…Spinocerebellar ataxias (SCAs) are a heterogeneous group of autosomal-dominant neurodegenerative disorders involving the cerebellum and 23 different genes. We…”
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Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia by Esteves, Typhaine, Durr, Alexandra, Mundwiller, Emeline, Loureiro, José L., Boutry, Maxime, Gonzalez, Michael A., Gauthier, Julie, El-Hachimi, Khalid H., Depienne, Christel, Muriel, Marie-Paule, Acosta Lebrigio, Rafael F., Gaussen, Marion, Noreau, Anne, Speziani, Fiorella, Dionne-Laporte, Alexandre, Deleuze, Jean-François, Dion, Patrick, Coutinho, Paula, Rouleau, Guy A., Zuchner, Stephan, Brice, Alexis, Stevanin, Giovanni, Darios, Frédéric

“…Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous neurological conditions. Their main pathogenic mechanisms are thought to…”
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RAD51 Haploinsufficiency Causes Congenital Mirror Movements in Humans by Depienne, Christel, Bouteiller, Delphine, Méneret, Aurélie, Billot, Ségolène, Groppa, Sergiu, Klebe, Stephan, Charbonnier-Beaupel, Fanny, Corvol, Jean-Christophe, Saraiva, Jean-Paul, Brueggemann, Norbert, Bhatia, Kailash, Cincotta, Massimo, Brochard, Vanessa, Flamand-Roze, Constance, Carpentier, Wassila, Meunier, Sabine, Marie, Yannick, Gaussen, Marion, Stevanin, Giovanni, Wehrle, Rosine, Vidailhet, Marie, Klein, Christine, Dusart, Isabelle, Brice, Alexis, Roze, Emmanuel

“…Congenital mirror movements (CMM) are characterized by involuntary movements of one side of the body that mirror intentional movements on the opposite side…”
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