A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3

by Renaud, Mathilde, Marcel, Christophe, Rudolf, Gabrielle, Schaeffer, Mickaël, Lagha-Boukbiza, Ouhaïd, Chanson, Jean-Baptiste, Chelly, Jamel, Anheim, Mathieu, Tranchant, Christine
Published 2016

Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease

by Hirst, Jennifer, Edgar, James R., Esteves, Typhaine, Darios, Frédéric, Madeo, Marianna, Chang, Jaerak, Roda, Ricardo H., Dürr, Alexandra, Anheim, Mathieu, Gellera, Cinzia, Li, Jun, Züchner, Stephan, Mariotti, Caterina, Stevanin, Giovanni, Blackstone, Craig, Kruer, Michael C., Robinson, Margaret S.
Published 2015

Emerging topics in FXTAS

by Hall, Deborah A, Birch, Rachael C, Anheim, Mathieu, Jønch, Aia E, Pintado, Elizabeth, O’Keefe, Joanne, Trollor, Julian N, Stebbins, Glenn T, Hagerman, Randi J, Fahn, Stanley, Berry-Kravis, Elizabeth, Leehey, Maureen A
Published 2014

Erratum: Emerging topics in FXTAS

by Hall, Deborah A, Birch, Rachael C, Anheim, Mathieu, Jønch, Aia E, Pintado, Elizabeth, O’Keefe, Joan A, Trollor, Julian N, Stebbins, Glenn T, Hagerman, Randi J, Fahn, Stanley, Berry-Kravis, Elizabeth, Leehey, Maureen A
Published 2015

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

by Mignot, Cyril, Apartis, Emmanuelle, Durr, Alexandra, Marques Lourenço, Charles, Charles, Perrine, Devos, David, Moreau, Caroline, de Lonlay, Pascale, Drouot, Nathalie, Burglen, Lydie, Kempf, Nadine, Nourisson, Elsa, Chantot-Bastaraud, Sandra, Lebre, Anne-Sophie, Rio, Marlène, Chaix, Yves, Bieth, Eric, Roze, Emmanuel, Bonnet, Isabelle, Canaple, Sandrine, Rastel, Coralie, Brice, Alexis, Rötig, Agnès, Desguerre, Isabelle, Tranchant, Christine, Koenig, Michel, Anheim, Mathieu
Published 2013