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

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

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

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

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

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

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

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

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

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

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

av 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
Publicerad 2013

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

av 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.
Publicerad 2014

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

av 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
Publicerad 2014

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

av 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
Publicerad 2014

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

av 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.
Publicerad 2013

Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia

av 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
Publicerad 2013

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

av 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.
Publicerad 2013

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

av 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.
I publikationen Nat Genet (2015)