Mutation Screening of Spastin, Atlastin, and REEP1 in Hereditary Spastic Paraplegia

le McCorquodale, Donald S., Ozomaro, Uzoezi, Huang, Jia, Montenegro, Gladys, Kushman, Arielle, Citrigno, Luigi, Price, Justin, Speziani, Fiorella, Pericak-Vance, Margaret A., Züchner, Stephan
Foilsithe 2011

Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2

le McCorquodale, Donald S., Montenegro, Gladys, Peguero, Ainsley, Carlson, Nicole, Speziani, Fiorella, Price, Justin, Taylor, Sean W., Melanson, Michel, Vance, Jeffery M., Züchner, Stephan
Foilsithe 2011

Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54)

le Gonzalez, Michael, Nampoothiri, Sheela, Kornblum, Cornelia, Oteyza, Andrés Caballero, Walter, Jochen, Konidari, Ioanna, Hulme, William, Speziani, Fiorella, Schöls, Ludger, Züchner, Stephan, Schüle, Rebecca
Foilsithe 2013

GEnomes Management Application (GEM.app): A new software tool for large-scale collaborative genome analysis

le Gonzalez, Michael A., Acosta Lebrigio, Rafael F., Van Booven, Derek, Ulloa, Rick H., Powell, Eric, Speziani, Fiorella, Tekin, Mustafa, Schule, Rebecca, Zuchner, Stephan
Foilsithe in Hum Mutat (2013)

Exome Sequencing Allows for Rapid Gene Identification in a Charcot-Marie-Tooth Family

le Montenegro, Gladys, Powell, Eric, Huang, Jia, Speziani, Fiorella, Edwards, Yvonne J.K., Beecham, Gary, Hulme, William, Siskind, Carly, Vance, Jeffery, Shy, Michael, Züchner, Stephan
Foilsithe 2011

Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2

le Gonzalez, Michael, McLaughlin, Heather, Houlden, Henry, Guo, Min, Yo-Tsen, Liu, Hadjivassilious, Marios, Speziani, Fiorella, Yang, Xiang-Lei, Antonellis, Anthony, Reilly, Mary M, Züchner, Stephan
Foilsithe 2013

A novel mutation in VCP causes Charcot–Marie–Tooth Type 2 disease

le Gonzalez, Michael A., Feely, Shawna M., Speziani, Fiorella, Strickland, Alleene V., Danzi, Matt, Bacon, Chelsea, Lee, Youjin, Chou, Tsui-Fen, Blanton, Susan H., Weihl, Conrad C., Zuchner, Stephan, Shy, Michael E.
Foilsithe 2014

Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier

le Bonifert, Tobias, Karle, Kathrin N., Tonagel, Felix, Batra, Marion, Wilhelm, Christian, Theurer, Yvonne, Schoenfeld, Caroline, Kluba, Torsten, Kamenisch, York, Carelli, Valerio, Wolf, Julia, Gonzalez, Michael A., Speziani, Fiorella, Schüle, Rebecca, Züchner, Stephan, Schöls, Ludger, Wissinger, Bernd, Synofzik, Matthis
Foilsithe 2014

Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia

le 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
Foilsithe 2014

Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia

le Oates, Emily C., Rossor, Alexander M., Hafezparast, Majid, Gonzalez, Michael, Speziani, Fiorella, MacArthur, Daniel G., Lek, Monkol, Cottenie, Ellen, Scoto, Mariacristina, Foley, A. Reghan, Hurles, Matthew, Houlden, Henry, Greensmith, Linda, Auer-Grumbach, Michaela, Pieber, Thomas R., Strom, Tim M., Schule, Rebecca, Herrmann, David N., Sowden, Janet E., Acsadi, Gyula, Menezes, Manoj P., Clarke, Nigel F., Züchner, Stephan, Muntoni, Francesco, North, Kathryn N., Reilly, Mary M.
Foilsithe 2013

Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia

le 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
Foilsithe 2013

Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12

le Landouré, Guida, Zhu, Peng-Peng, Lourenço, Charles M., Johnson, Janel O., Toro, Camilo, Bricceno, Katherine V., Rinaldi, Carlo, Meilleur, Katherine G., Sangaré, Modibo, Diallo, Oumarou, Pierson, Tyler M., Ishiura, Hiroyuki, Tsuji, Shoji, Hein, Nichole, Fink, John K., Stoll, Marion, Nicholson, Garth, Gonzalez, Michael, Speziani, Fiorella, Dürr, Alexandra, Stevanin, Giovanni, Biesecker, Leslie G., Accardi, John, Landis, Dennis M. D., Gahl, William A., Traynor, Bryan J., Marques, Wilson, Züchner, Stephan, Blackstone, Craig, Fischbeck, Kenneth H., Burnett, Barrington G.
Foilsithe 2013

Mutations in the UGO1-like protein SLC25A46 cause an optic atrophy spectrum disorder

le Abrams, Alexander J., Hufnagel, Robert B., Rebelo, Adriana, Zanna, Claudia, Patel, Neville, Gonzalez, Michael A., Campeanu, Ion J., Griffin, Laurie B., Groenewald, Saskia, Strickland, Alleene V., Tao, Feifei, Speziani, Fiorella, Abreu, Lisa, Schüle, Rebecca, Caporali, Leonardo, La Morgia, Chiara, Maresca, Alessandra, Liguori, Rocco, Lodi, Raffaele, Ahmed, Zubair M., Sund, Kristen L., Wang, Xinjian, Krueger, Laura A., Peng, Yanyan, Prada, Carlos E., Prows, Cynthia A., Bove, Kevin, Schorry, Elizabeth K., Antonellis, Anthony, Zimmerman, Holly H., Abdul-Rahman, Omar A., Yang, Yaping, Downes, Susan M., Prince, Jeffery, Fontanesi, Flavia, Barrientos, Antonio, Nemeth, Andrea H., Carelli, Valerio, Huang, Taosheng, Zuchner, Stephan, Dallman, Julia E.
Foilsithe in Nat Genet (2015)