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

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

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

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

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

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

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

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

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

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

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

Tekijä 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
Julkaistu 2013

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

Tekijä 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.
Julkaistu 2014

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

Tekijä 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
Julkaistu 2014

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

Tekijä 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
Julkaistu 2014

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

Tekijä 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.
Julkaistu 2013

Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia

Tekijä 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
Julkaistu 2013

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

Tekijä 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.
Julkaistu 2013

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

Tekijä 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.
Julkaisussa Nat Genet (2015)