Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
WU, Chi-Hong, FALLINI, Claudia, KOST, Jason E, GONZALEZ-PEREZ, Paloma, FOX, Andrew D, ADAMS, Jenni, TARONI, Franco, TILOCA, Cinzia, LYN LECLERC, Ashley, CHAFE, Shawn C, MANGROO, Dev, MOORE, Melissa J, TICOZZI, Nicola, ZITZEWITZ, Jill A, XU, Zuo-Shang, DEN BERG, Leonard H. Van, GLASS, Jonathan D, SICILIANO, Gabriele, CIRULLI, Elizabeth T, GOLDSTEIN, David B, SALACHAS, Francois, MEININGER, Vincent, ROSSOLL, Wilfried, KEAGLE, Pamela J, RATTI, Antonia, GELLERA, Cinzia, BOSCO, Daryl A, BASSELL, Gary J, SILANI, Vincenzo, DRORY, Vivian E, BROWN, Robert H, LANDERS, John E, SAPP, Peter C, PIOTROWSKA, Katarzyna, LOWE, Patrick, KOPPERS, Max, MCKENNA-YASEK, Diane, BARON, Desiree M
Published in Nature (London) (23.08.2012)
Published in Nature (London) (23.08.2012)
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Journal Article
EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans
Van Hoecke, Annelies, Schoonaert, Lies, Lemmens, Robin, Timmers, Mieke, Staats, Kim A, Laird, Angela S, Peeters, Elke, Philips, Thomas, Goris, An, Dubois, Bénédicte, Andersen, Peter M, Al-Chalabi, Ammar, Thijs, Vincent, Turnley, Ann M, van Vught, Paul W, Veldink, Jan H, Hardiman, Orla, Van Den Bosch, Ludo, Gonzalez-Perez, Paloma, Van Damme, Philip, Brown, Jr, Robert H, van den Berg, Leonard H, Robberecht, Wim
Published in Nature medicine (01.09.2012)
Published in Nature medicine (01.09.2012)
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Journal Article
ALS-linked protein disulfide isomerase variants cause motor dysfunction
Woehlbier, Ute, Colombo, Alicia, Saaranen, Mirva J, Pérez, Viviana, Ojeda, Jorge, Bustos, Fernando J, Andreu, Catherine I, Torres, Mauricio, Valenzuela, Vicente, Medinas, Danilo B, Rozas, Pablo, Vidal, Rene L, Lopez-Gonzalez, Rodrigo, Salameh, Johnny, Fernandez-Collemann, Sara, Muñoz, Natalia, Matus, Soledad, Armisen, Ricardo, Sagredo, Alfredo, Palma, Karina, Irrazabal, Thergiory, Almeida, Sandra, Gonzalez-Perez, Paloma, Campero, Mario, Gao, Fen-Biao, Henny, Pablo, van Zundert, Brigitte, Ruddock, Lloyd W, Concha, Miguel L, Henriquez, Juan P, Brown, Robert H, Hetz, Claudio
Published in The EMBO journal (15.04.2016)
Published in The EMBO journal (15.04.2016)
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Journal Article
Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients
Gonzalez-Perez, Paloma, Woehlbier, Ute, Chian, Ru-Ju, Sapp, Peter, Rouleau, Guy A., Leblond, Claire S., Daoud, Hussein, Dion, Patrick A., Landers, John E., Hetz, Claudio, Brown, Robert H.
Published in Gene (25.07.2015)
Published in Gene (25.07.2015)
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Journal Article
Cancer and Myotonic Dystrophy
D'Ambrosio, Eleonora S, Gonzalez-Perez, Paloma
Published in Journal of clinical medicine (01.03.2023)
Published in Journal of clinical medicine (01.03.2023)
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Journal Article
Isolated cortical vein thrombosis in autoimmune polyglandular syndrome type 2
Gonzalez-Perez, Paloma, Correia, Marcelo, Capizzano, Aristides A, Adams, Harold P
Published in Neurology (29.03.2016)
Published in Neurology (29.03.2016)
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Journal Article
Antisense oligonucleotide and adjuvant exercise therapy reverse fatigue in old mice with myotonic dystrophy
Hu, Ningyan, Kim, Eunjoo, Antoury, Layal, Li, Jia, González-Pérez, Paloma, Rutkove, Seward B., Wheeler, Thurman M.
Published in Molecular therapy. Nucleic acids (05.03.2021)
Published in Molecular therapy. Nucleic acids (05.03.2021)
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Journal Article
Clinical and electrophysiological evaluation of myasthenic features in an alpha-dystroglycanopathy cohort (FKRP-predominant)
Gonzalez-Perez, Paloma, Smith, Cheryl, Sebetka, Wendy L., Gedlinske, Amber, Perlman, Seth, Mathews, Katherine D
Published in Neuromuscular disorders : NMD (01.03.2020)
Published in Neuromuscular disorders : NMD (01.03.2020)
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Journal Article
ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19
Takahashi, Yuji, Fukuda, Yoko, Yoshimura, Jun, Toyoda, Atsushi, Kurppa, Kari, Moritoyo, Hiroyoko, Belzil, Veronique V., Dion, Patrick A., Higasa, Koichiro, Doi, Koichiro, Ishiura, Hiroyuki, Mitsui, Jun, Date, Hidetoshi, Ahsan, Budrul, Matsukawa, Takashi, Ichikawa, Yaeko, Moritoyo, Takashi, Ikoma, Mayumi, Hashimoto, Tsukasa, Kimura, Fumiharu, Murayama, Shigeo, Onodera, Osamu, Nishizawa, Masatoyo, Yoshida, Mari, Atsuta, Naoki, Sobue, Gen, Fifita, Jennifer A., Williams, Kelly L., Blair, Ian P., Nicholson, Garth A., Gonzalez-Perez, Paloma, Brown, Robert H., Nomoto, Masahiro, Elenius, Klaus, Rouleau, Guy A., Fujiyama, Asao, Morishita, Shinichi, Goto, Jun, Tsuji, Shoji
Published in American journal of human genetics (07.11.2013)
Published in American journal of human genetics (07.11.2013)
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Journal Article
Association of UBQLN1 mutation with Brown–Vialetto–Van Laere syndrome but not typical ALS
González-Pérez, Paloma, Lu, Yubing, Chian, Ru-Ju, Sapp, Peter C, Tanzi, Rudolph E, Bertram, Lars, McKenna-Yasek, Diane, Gao, Fen-Biao, Brown, Robert H
Published in Neurobiology of disease (01.12.2012)
Published in Neurobiology of disease (01.12.2012)
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Journal Article
Case 19-2023: An 80-Year-Old Man with Left Foot Drop
González-Pérez, Paloma, Buch, Karen A., Sadjadi, Reza
Published in The New England journal of medicine (22.06.2023)
Published in The New England journal of medicine (22.06.2023)
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Journal Article
Proximal muscle weakness
Gonzalez-Perez, Paloma, Torre, Matthew, Helgager, Jeffrey, Amato, Anthony A.
Published in Practical neurology (01.08.2019)
Published in Practical neurology (01.08.2019)
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Journal Article
Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis
González-Pérez, Paloma, Cirulli, Elizabeth T, Drory, Vivian E, Dabby, Ron, Nisipeanu, Puiu, Carasso, Ralph L, Sadeh, Menachem, Fox, Andrew, Festoff, Barry W, Sapp, Peter C, McKenna-Yasek, Diane, Goldstein, David B, Brown, Jr, Robert H, Blumen, Sergiu C
Published in Neurology (27.11.2012)
Published in Neurology (27.11.2012)
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Journal Article
Peripheral arterial disease in patients with stages IV and V chronic renal failure
Guerrero, Angeles, Montes, Rafael, Muñoz-Terol, José, Gil-Peralta, Alberto, Toro, Javier, Naranjo, Macarena, González-Pérez, Paloma, Martín-Herrera, Carmen, Ruiz-Fernández, Ana
Published in Nephrology, dialysis, transplantation (01.12.2006)
Published in Nephrology, dialysis, transplantation (01.12.2006)
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Journal Article
Phenotypic variability in a Spanish family with a Caveolin-3 mutation
González-Pérez, Paloma, Gallano, Pía, González-Quereda, Lidia, Rivas-Infante, Eloy, Teijeira, Susana, Navarro, Carmen, Bautista-Lorite, Juan
Published in Journal of the neurological sciences (15.01.2009)
Published in Journal of the neurological sciences (15.01.2009)
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