Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias

Authors: Cunha, Paulina, Petit, Emilien, Coutelier, Marie, Coarelli, Giulia, Mariotti, Caterina, Faber, Jennifer, Van Gaalen, Judith, Damasio, Joana, Fleszar, Zofia, Tosi, Michele, Rocca, Clarissa, De Michele, Giovanna, Minnerop, Martina, Ewenczyk, Claire, Santorelli, Filippo M., Heinzmann, Anna, Bird, Thomas, Amprosi, Matthias, Indelicato, Elisabetta, Benussi, Alberto, Charles, Perrine, Stendel, Claudia, Romano, Silvia, Scarlato, Marina, Le Ber, Isabelle, Bassi, Maria Teresa, Serrano, Mercedes, Schmitz-Hübsch, Tanja, Doss, Sarah, Van Velzen, Gijs A.J., Thomas, Quentin, Trabacca, Antonio, Ortigoza-Escobar, Juan Dario, D'Arrigo, Stefano, Timmann, Dagmar, Pantaleoni, Chiara, Martinuzzi, Andrea, Besse-Pinot, Elsa, Marsili, Luca, Cioffi, Ettore, Nicita, Francesco, Giorgetti, Alejandro, Moroni, Isabella, Romaniello, Romina, Casali, Carlo, Ponger, Penina, Casari, Giorgio, De Bot, Susanne T., Ristori, Giovanni, Blumkin, Lubov, Borroni, Barbara, Goizet, Cyril, Marelli, Cecilia, Boesch, Sylvia, Anheim, Mathieu, Filla, Alessandro, Houlden, Henry, Bertini, Enrico, Klopstock, Thomas, Synofzik, Matthis, Riant, Florence, Zanni, Ginevra, Magri, Stefania, Di Bella, Daniela, Nanetti, Lorenzo, Sequeiros, Jorge, Oliveira, Jorge, Van de Warrenburg, Bart, Schöls, Ludger, Taroni, Franco, Brice, Alexis, Durr, Alexandra

Source: In The American Journal of Human Genetics 6 July 2023 110(7):1098-1109

Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

Authors: Courage, Carolina, Oliver, Karen L., Park, Eon Joo, Cameron, Jillian M., Grabińska, Kariona A., Muona, Mikko, Canafoglia, Laura, Gambardella, Antonio, Said, Edith, Afawi, Zaid, Baykan, Betul, Brandt, Christian, di Bonaventura, Carlo, Chew, Hui Bein, Criscuolo, Chiara, Dibbens, Leanne M., Castellotti, Barbara, Riguzzi, Patrizia, Labate, Angelo, Filla, Alessandro, Giallonardo, Anna T., Berecki, Geza, Jackson, Christopher B., Joensuu, Tarja, Damiano, John A., Kivity, Sara, Korczyn, Amos, Palotie, Aarno, Striano, Pasquale, Uccellini, Davide, Giuliano, Loretta, Andermann, Eva, Scheffer, Ingrid E., Michelucci, Roberto, Bahlo, Melanie, Franceschetti, Silvana, Sessa, William C., Berkovic, Samuel F., Lehesjoki, Anna-Elina

Source: In The American Journal of Human Genetics 1 April 2021 108(4):722-738

Benefits of eculizumab in AQP4+ neuromyelitis optica spectrum disorder: Subgroup analyses of the randomized controlled phase 3 PREVENT trial

Authors: Muñoz, Daniel Julio, Amor, Jorge David, Bocchiardo, Carolina, Danielle, Julieta Iourno, Laffue, Alfredo, Obregon, Carolina Daniela Diaz, Paez, Maria Fernanda, Perez, Roberto Martin, Rocchi, Viviana Ana Maria, Teijeiro, Loreley Deborah, Gómez, Jesica, Villa, Andres Maria, Aguirre, Florencia, Fernández, Victoria Carla, Goicoechea, Ramon F., Melamud, Luciana, Stillman, Ana, de Virgiliis, Mariana, Cassara, Fatima Pagani, Cordoba, Marta, Gutierrez, Maria Teresa, Ingolotti, Mariana, Larripa, Natalia, Lupinacci, Anahi, Arroyo, Josefina, Romano, Alejandra, Torres, Mariana Foa, Ballario, Carlos Héctor, Chiesa, Ana Elisa, Gómez, Hernán Gustavo, Lattini, Hernán Gabriel, Mainella, Carolina Natalia, Bolner, Gisel Edith, Eschoyez, María Soledad, Broadley, Simon Andrew, Heshmat, Saman, Sabet, Arman, Swayne, Andrew, Freeman, Susan, Sanchez, Sofia Jimenez, Shuey, Neil, Dalic, Linda, French, Ann, Kuma, Guru, Laing, Joshua, Law, Lai Yin, MacIntyre, Jennifer, Neal, Andrew, Plummer, Christopher, Ramachandran, Prashanth, Sedal, Leslie, Wilson, Ian, Winkel, Antony, Zhang, Wenwen, Chen, Tina, Watts, Rani, Barnett, Michael, Barton, Joshua, Beadnall, Heidi, Garber, Justin, Hardy, Todd Andrew, Trewin, Benjamin, Taha, Marinda, Walters, Deleni, Sieger, Federico Arturo Silva, Alfonso, Nhora Patricia Ruiz, Camacho, Anna Maria Pinzon, Moreno, Alexander Pabón, Prad, Jorge Armando Castellanos, Rueda, Adriana Paola Duarte, Castillo, Tatiana, Gonzalez, Karol Melissa Castillo, Pico, Martha Yolanda Moreno, Castill, Judith, Habek, Mario, Adamec, Ivan, Barun, Barbara, Crnosija, Luka, Gabelic, Tereza, Nytrova, Petra, Krasulova, Eva, Pavlickova, Jana, Tyblova, Michaela, Zubkova, Jana, Petersen, Thor, Dale, Gro Helen, Rasmussen, Peter Vestergaard, Stilund, Morten, Svendsen, Kristina Bacher, Brandt, Vivi, Collongues, Nicolas, Fleury, Marie-Celine, Kremer, Laurent, Bendele, Sandrine, Neff, Valérie, Diem, Ricarda, Platten, Michael, Berberich, Anne, Jansen, Jonabelle, Jaschoneck, Hannah, Wildemann, Brigitte, Aures, Ursula, Brandenburger, Tanja, Haut, Tanja, Fernández, Maria-Lourdes Treceno, Aly, Lilian, Brinkhoff, Kirsten, Buck, Dorothea, Golkowski, Daniel, Hermisson, Mirjam, Hoshi, Muna-Miriam, Kaminski, Miriam, Kowarik, Markus Christian, Kronsbein, Helena, Lehmann-Horn, Klaus, Pongratz, Viola Maria, Schweiker, Andreas, Leddy, Lisa-Ann, Mueller, Silvia, Obergfell, Kim, Wanka, Marion, Zettl, Uwe Klaus, Klinke, Jan, Loebermann, Micha, Meister, Stefanie, Rimmele, Florian, Winkelmann, Alexander, Schroeder, Ina, Lau, Alexander Yuk-Lun, Au, Lisa Wing-Chi, Fan, Florence Sin-Ying, Ip, Vincent Hing-Lung, Ma, Karen Ka-Yan, Ma, Sze-Ho, Mok, Vincent Chung-Tong, Au, Cheryl Chung-Kwan, Kwan, Pauline Wing-Lam, Patti, Francesco, Caramma, Andrea Salvatore, Chisari, Clara Grazia, Fermo, Salvatore Lo, Messina, Silvia, Projetto, Maria, Caserta, Cinzia, Filla, Alessandro, Costabile, Teresa, Pane, Chiara, Sacca, Francesco, Marsili, Angela, Puorro, Giorgia, Bergamaschi, Roberto, Berra, Eliana, Mallucci, Giulia, Fattore, Cinzia, Gasperini, Claudio, Galgani, Simonetta, Haggiag, Shalom, Ruggieri, Serena, Vento, Claudio, Quartuccio, Esmeralda Maria, Pozzilli, Carlo, Barletta, Valeria Teresa, Borriello, Giovanna, De Giglio, Laura, Marinelli, Fabiana, Tasillo, Miriam, Amadori, Alessandra, Fischetti, Mariano, Gurreri, Flavia, Mori, Masahiro, Masuda, Hiroki, Ohtani, Ryohei, Sekiguchi, Yukari, Uchida, Tomohiko, Uzawa, Akiyuki, Ito, Hiromi, Kabasawa, Emi, Kaneko, Yoko, Matsushita, Takuya, Matsuse, Dai, Murai, Hiroyuki, Hayashi, Shintaro, Masak, Katsuhisa, Ogata, Hidenori, Shinoda, Koji, Uehara, Taira, Watanabe, Mitsuru, Yamaguchi, Hiroo, Yamasaki, Ryo, Yonekawa, Tomomi, Jingu, Maki, Nagano, Makiko, Nakamura, Yumiko, Sano, Yoshiko, Araki, Manabu, Lin, Youwei, Mori, Madoka, Mukai, Yohei, Sano, Terunori, Sato, Wakiro, Gogun, Naoya, Maeda, Yuriko, Nishimoto, Asami, Tsukamoto, Sachiko, Yanagi, Ritsuko, Saida, Takahiko, Nakamura, Shinichi, Nasu, Tetsuya, Saida, Kyoko, Shikata, Yuko, Kodani, Yoshimi, Saeki, Megumi, Sawada, Yukako, Yoshikawa, Hiroo, Kimura, Takashi, Nishi, Masamitsu, Sakamoto, Shun, Ukon, Shinichiro, Watanabe, Shohei, Ebisuya, Saori, Kimura, Nami, Matsuura, Manami, Morisaki, Yukie, Muroi, Yoshiko, Onishi, Kuniko, Oshima, Ikuko, Washino, Yuki, Yamashita, Tomomi, Misu, Tatsuro, Kaneko, Kimihiko, Kato, Masaaki, Kuroda, Hiroshi, Kurosawa, Kazuhiro, Nishiyama, Shuhei, Ono, Hirohiko, Takai, Yoshiki, Abe, Keiko, Hoshi, Hitomi, Jinushi, Mari, Oyama, Azusa, Sakuma, Motonari, Sawada, Yuko, Ishibashi, Satoru, Yokota, Takanori, Nishida, Yoichiro, Ozaki, Kokoro, Sanjo, Nobuo, Sato, Nozomu, Denno, Fuki, Hiraki, Haruko, Matsubara, Yumi, Kanda, Takashi, Abe, Masaaki, Honda, Masaya, Kawai, Motoharu, Koga, Michiaki, Maeda, Toshihiko, Ogasawara, Junichi, Omoto, Masatoshi, Sano, Yasuteru, Sato, Ryota, Shimizu, Fumitaka, Arima, Hideki, Fukui, Sachie, Ishikawa, Yoshiko, Koyama, Tomoko, Shimose, Shigemi, Shinozaki, Hirokazu, Watanabe, Masanori, Yasuda, Sachi, Yoshiwaka, Chieko, Adenan, Suffian, Aris, Mohd Azman M, Mawardi, Ahmad Shahir bin, Adnan, Muhammad Al Hafiz, Munusamy, Nanthini, Razali, Siti Nur Omaira, Somasundram, Punitha, Hyun, Jae Won, Jeong, In Hye, Kim, Su-Hyun, Shin, Hyun-June, Yoo, Ji Sung, Jang, HyunMin, Joung, AeRan, Kim, Byung-Jo, Baek, Seol-Hee, Kim, Jung Bin, Kim, Yoo Hwan, Koo, Yong Seo, Lee, Chan Nyoung, Seok, Hung Youl, Hwang, Jinhee, Kim, Sung Min, Ahn, So Hyun, Choi, Kyomin, Choi, Seok-Jin, Kim, Jun-Soon, Kwon, Young Nam, Shin, Je-Young, Kwon, Hyeonju, Kim, Byoung Joon, Cho, Eun Bin, Cho, Hye-Jin, Choi, Misong, Kim, DongSun, Kim, Ju Hyeon, Ki, SeungJu, Lee, Hye Lim, Lee, Kwang-Ho, Min, Ju-Hong, Park, Ji-Hyung, Seok, Jinmyoung, Choi, Eunhwa, Park, Sang Ae, Kim, Seung Min, Jeong, Ha-Neul, Jeongbin, Bong, Jung, Jin Woo, Kim, Seung Woo, Kim, Yool-hee, Lee, Hyung Seok, Shin, Ha Young, Jung, Yeon, Kim, Min Jung, Lee, Nou Ri, Shin, MiJu, Khabirov, Farit A, Averyanova, Lyudmila, Babicheva, Natalya, Granatov, Eugenii, Kazarov, Sergey, Khaybullin, Timur, Rogozhin, Alexander, Pokhabov, Dmitry V, Abramov, Vladislav, Amelina, Anastasia, Nesteroca, Yulia, Bozhenkina, Tatyana, Boyko, Aleksey N, Demyan, Elena G, Khoroshilova, Inessa, Melnikov, Mikhail, Popova, Ekaterina V, Sharanova, Svetlana N, Shchur, Sergey G, Sazonov, Denis V, Babenko, Larisa, Bayandina, Elena, Yarmoschuk, Asya, Baliazin, Victor A, Baliazina, Elena, Budaeva, Elena, Chernikova, Irina, Goncharova, Zoya, Krasnov, Vladimir, Myatleva, Marina, Rodionova, Olga V., Samulyzhko, Iuliana, Timofeeva, Alla A., Duran, Sabas Boyero, Bilbao, Maria Mar Mendibe, Cuervo, Irene Diaz, Domingo, Jose Maria Losada, Eizaguirre, Amaia Gonzalez, Llona, Jose Eulalio Barcena, Moyano, Roberto Valverde, Bahamonde, Carmen, Lopez, Fernando Sanchez, Morales, Raquel Pinar, Morales, Eduardo Agüera, Roman, Carmen Bahamonde, Sepulveda, Juan Jose Ochoa, Valero, Maria del Carmen Blanco, Viña, Nazaret Pelaez, Gavilan, Cristina Conde, Sanchez, Ana Maria Jover, Bedmar, Sara Vila, Garcia, Nuria Gonzalez, Garcia, Aida Orviz, Gonzalez-Suarez, Ines, Guillamon, Elena Miñano, Kawiorski, Miguel, Schulz, Elena Guerra, Alonso, Alba Garcia, Perez, Francisco Jesus Lopez, Sarmiento, Marta Palacios, Ayuso, Guillermo Izquierdo, Mascarell, Guillermo Navarro, Camino, Cristina Paramo, Garcia, Asuncion Varas, Mendoza, Yaiza Montserrat, Muñoz, Veronica Ines Vargas, Tonda, Patricia Torres, Tsai, Ching-Piao, Yin, Jiu-Haw, Chen, Mei-Jung, Li, Shan-Ni, Wang, Fei-Ti, Srisuwannanukorn, Suwat, Boonmongkol, Thanatat, Borisutbuathip, Duangporn, Singwicha, Duangkamol, Siritanan, Krittika, Thearapati, Chidchanoke, Sornda, Kwanmuang, Apiwattanakul, Metha, Aungsumart, Saharat, Suanprasert, Narupat, Suksuchano, Kaona, Parkinsee, Nittaya, Kulkantrakorn, Kongkiat, Lolekha, Praween, Potigumjon, Artit, Sukphulloprat, Puchit, Suksasunee, Dararat, Komaratat, Chankawee, Luangtong, Sunattana, Arayawichanont, Arkhom, Konpan, Phanpaphon, Riablershirun, Nathapol, Wiroteurairuang, Thaddao, Jantaweesirirat, Panadda, Kurne, Aslı, Erkent, Irem, Kurt, Ebru Bekircan, Saylam, Ezgi, Caliskan, Yagmur, Orsel, Gulsah, Celik, Yahya, Celebi, Canan, Tekatas, Aslan, Banbal, Tugce, Demir, Gulsen Akman, Altunrende, Burcu, Matur, Zeliha, Topcular, Baris, Elmas, Tules, Gulo, Aysenur, Ozdemir, Selin, Ozkoklesen, Cansu, Ozturk, Mahinur, Yanik, Mertkan, Yildirim, Elif, Tutuncu, Melih, Altintas, Ayse, Cam, Abdulsamet, Elmali, Ayse Deniz, Saip, Sabahattin, Siva, Aksel, Tanrıverdi, Uygur, Uygunoglu, Ugur, Caliskan, Sinem, Gulo, Pinar, Kozig, Esra, Sakiz, Sakine, Sengun, Ihsan Sukru, Idiman, Egemen, Ala, Rahmi Tumay, Arslan, Duygu, Bulut, Utku, Karakaptan, Yasemin, Kaya, Derya, Mehdiyev, Zaur, Balkan, Bengu, Kuku, Berfu, Ozhun, Mujgan, Tuga, Celal, Ugur, Muzeyyen, Efendi, Husnu, Bunul, Sena Destan, Cavus, Hakan, Gorke, Yunus Emre, Kutlu, Ayse, Ozturk, Seda, Sarikaya, Cansu Egilmez, Becerikli, Gulsah, Semiz, Cansu, Tun, Ozlem, Ayer, Sehriban, Onar, Musa Kazim, Ozberk, Mehlika Berra, Sen, Sedat, Cavdar, Tugce Kirbas, Veske, Adife, Boz, Cavit, Altiparmak, Didem, Aydin, Cigdem Ozen, Gazioglu, Sibel, Bekircan, Duygu, Jacob, Anu, Arndt, Heike, Elsone, Liene, Hamid, Shahd Hassan Mahmoud, Whittam, Daniel Hugh, Wilson, Martin, O'Brien, Imelda, Leite, Maria Isabel da Silva, Cruz, Pedro Maria Rodriguez, Jenkins, Damian Robert, Tackley, George, Cavey, Ana, Everett, Rosie, Hodder, Joy, Koelewyn, Abigail, Mowry, Ellen, Royal, Walter, III, Shin, Robert, Bever, Christopher, Jr, Harrison, Daniel, Rus, Horea, Zheng, Wei, Callison, Karen, Naunton, Kerry, Frishberg, Benjamin M, Blumenfeld, Andrew M, Inocelda, Andrew, Korabathina, Kalyani, Lobatz, Michael, Mortin, Melissa M, Oh, Irene J, Rosenberg, Jay H, Sadoff, Mark, Sahagian, Gregory A, Wang, Anchi, Camberos, Yasmin, Sanchez, Guadalupe, Soto, Estela, Nicholas, Jacqueline A, Boster, Aaron, Eubank, Geoffrey, Groezinger, Katy, Lauf, Meghan, Okai, Annette F, Hasan, Rashedul, Khoury, Chaouki, Stokes, Victoria, Clardy, Stacey, Cortez, Melissa, Greenlee, John, Rose, John, Soldan, Mateo Paz, Emett, Amanda, Esquibel, Lawanda, Fagatele, Lilly, Wong, Ka-Ho, Stevens, James C, Banas, Thomas M, Bultemeyer, Marlene C, Haller, Andrea, Manalo, Natalie, Aeschliman, Keri, Kocks, Debi, Racke, Michael, Boster, Aaron Lee, Bowman, Michelle, Imitola, Jaime, Kisanuki, Yasushi, Green, Misty, Scarberry, Stephanie, Lynch, Sharon G, Anderson, Heather S, Gronseth, Gary S, Hammond, Nancy E, Jassam, Yasir N, Mittal, Manoj K, Nashatizadeh, Muhammed M, Levine, Nicholas, Schmidt, Lisa, Sibley, Jill, Whitley, Vonda, Winkley, James, Coleman, Timothy, Cooper, Gregory, Sheffield, Stephanie, Turner, Keri, Galloway, Dana, Tillett, Robert S, Jr, Ganesh, Geeta A, Plato, Brian M, Seifert, Tad D, Godwin, Diana, Lockridge, Deborah, Rammohan, Kottil W, Sheremata, William A, Delgado, Silvia, Gonzalez, Jose, Lizarraga, Alexis, Maldonado, Janice, Ortega, Melissa, Tornes, Leticia, Babcock, Yanet, Cailam, Osmara, Campos, Yesica, Couvertier, Irlisse, Daneri, Bettina, Deni, Jeremy, Hernandez, Jeffrey, Jaramillo, Tatiana, Morris, Tenita, Nobel, Daniel, Oliveira, Anjelis, Richardson, Reshma, Rodriguez, Gloria, Romero, Ana, Sandova, Carlos, Sawant, Ruta, Tueros, Lissett, Zetka, Eric S, Zheng, Chao, Jacobs, Daniel H, Easterling, Constance, Fairbank, Jennifer, Iyengar, Revathi, Klafter, Mark, Lindquist, Justin, Sadek, Ahmed H, Toro, Elizabeth Carmona, Verma, Navin, Castro, Brigith Patino, Sukhraj-Singh, Nadia, Berger, Joseph, Williamson, Eric, Chahin, Salim, Jacobs, Dina, Markowitz, Clyde, Dobbins, Jessica, Mace, Lauren, Martin, Maria, Pinckney, Ashley, Roberts, Amber, Zaydan, Islam, Mitchell, Galen W, Heyman, Rock A, Orie, Ryan L, Suski, Valerie R, Oddis, Kerry, Punjack, Darlene, Flanagan, Eoin, Gadoth, Avi, McKeon, Andrew, Tobin, W Oliver, Zekeridou, Anastasia, Dunlay, Katie, Sagen, Jessica, Carter, Jonathan L, Estephan, Bachir, Goodman, Brent P, Snyder, Charlene R Hoffman, Francone, Andrea, Galasky, Irene, Thomas, Martha, Repovic, Pavle, Bowen, James, Mayadev, Angeli, Qian, Peiqing, Courtney, Yuriko, Lennox, Lauren, Naismith, Robert Thomas, Cross, Anne Haney, Evans, Emily, Longbrake, Erin E, Orchard, Megan E, Wu, Gregory F, Heinrich, Linda, Sommers, Susan, Amjad, Faria, Mitchell, Erika, Mora, Carlos, Schreiber, Bethany, Tornatore, Carlo, Carlson, Alexis, McCarthy, Sacha, Oliver, Alexandria, Palace, Jacqueline, Wingerchuk, Dean M., Fujihara, Kazuo, Berthele, Achim, Oreja-Guevara, Celia, Kim, Ho Jin, Nakashima, Ichiro, Levy, Michael, Terzi, Murat, Totolyan, Natalia, Viswanathan, Shanthi, Wang, Kai-Chen, Pace, Amy, Yountz, Marcus, Miller, Larisa, Armstrong, Róisín, Pittock, Sean

Source: In Multiple Sclerosis and Related Disorders January 2021 47

Nerve ultrasound in CANVAS‐spectrum disease: Reduced nerve size distinguishes genetically confirmed CANVAS from other axonal polyneuropathies.

Authors: Salvalaggio, Alessandro, Cacciavillani, Mario, Tierro, Benedetta, Coraci, Daniele, Currò, Riccardo, Ferrarini, Moreno, Pegoraro, Elena, Bello, Luca, Fabrizi, Gian Maria, Filla, Alessandro, Padua, Luca, Manganelli, Fiore, Cortese, Andrea, Briani, Chiara

Source: Journal of the Peripheral Nervous System; Dec2024, Vol. 29 Issue 4, p464-471, 8p

Subject Terms: GENETICS of autism, PERIPHERAL nervous system, PEARSON correlation (Statistics), FRIEDREICH'S ataxia, SCIATIC nerve, TIBIAL nerve, RECEIVER operating characteristic curves, DISEASE duration, T-test (Statistics), DATA analysis, AUTISM, ULTRASONIC imaging, DESCRIPTIVE statistics, MEDIAN nerve, DNA, MANN Whitney U Test, AGE distribution, CEREBELLAR ataxia, GENE expression, POLYNEUROPATHIES, STATISTICS, ASPERGER'S syndrome, INNER ear injuries, COMPARATIVE studies, DATA analysis software, CHARCOT-Marie-Tooth disease, ULNAR nerve, BRACHIAL plexus, GENETIC testing

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Authors: Roux, Thomas, Barbier, Mathieu, Papin, Mélanie, Davoine, Claire-Sophie, Sayah, Sabrina, Coarelli, Giulia, Charles, Perrine, Marelli, Cecilia, Parodi, Livia, Tranchant, Christine, Goizet, Cyril, Klebe, Stephan, Lohmann, Ebba, Van Maldergem, Lionel, van Broeckhoven, Christine, Coutelier, Marie, Tesson, Christelle, Stevanin, Giovanni, Duyckaerts, Charles, Brice, Alexis, Durr, Alexandra, Darios, Frédéric, Forlani, Sylvie, Site, Pitié-Salpêtrière, Banneau, Guillaume, Cazeneuve, Cécile, Fontaine, Bertrand, Azulay, Jean-Philippe, Boesfplug-Tanguy, Odile, Hannequin, Didier, Hazan, Jamilé, Burgo, Andrea, Verny, Christophe, Koenig, Michel, Labauge, Pierre, N’guyen, Karine, Rodriguez, Diana, Belarbi, Soraya, Hamri, Abdelmadjid, Tazir, Meriem, Boesch, Sylvia, Pandolfo, Massimo, Laura, Jardim, Guergueltcheva, Velina, Tournev, Ivalo, Pedraza Linarès, Olga Lucia, Nielsen, Jørgen E., Svenstrup, Kirsten, Zaki, Maha, Bauer, Peter, Schöls, Lüdger, Schüle, Rebecca, Lossos, Alexander, Bassi, Maria-Teresa, Basso, Manuela, Bertini, Enrico, Brusco, Alfredo, Casali, Carlo, Casari, Giorgio, Criscuolo, Chiara, Filla, Alessandro, Orsi, Laura, Santorelli, Filippo M., Valente, Enza Maria, Vavla, Marinela, Vazza, Giovanni, Megarbane, André, Benomar, Ali, Kremer, Berry, Van Roon-Mom, Willeke, Roxburgh, Richard, Erichsen, Anne Kjersti, Tallaksen, Chantal, Alonso, Isabel, Coutinho, Paula, Loureiro, José Léal, Sequeiros, Jorge, Salih, Mustapha, Kostic, Vladimir S., Rouco Axpe, Idoia, Elsayed, Liena, Paucar, Martin Arce, Roumani, Samir, Bing-Wen, Soong, Reid, Evan, Suran, Nethisinghe, Warner, Thomas, Wood, Nicholas

Source: In Genetics in Medicine November 2020 22(11):1851-1862

Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study

Authors: Jacobi, Heike ^*, du Montcel, Sophie Tezenas, Romanzetti, Sandro, Harmuth, Florian, Mariotti, Caterina, Nanetti, Lorenzo, Rakowicz, Maria, Makowicz, Grzegorz, Durr, Alexandra, Monin, Marie-Lorraine, Filla, Alessandro, Roca, Alessandro, Schöls, Ludger, Hengel, Holger, Infante, Jon, Kang, Jun-Suk, Timmann, Dagmar, Casali, Carlo, Masciullo, Marcella, Baliko, Laszlo, Melegh, Bela, Nachbauer, Wolfgang, Bürk-Gergs, Katrin, Schulz, Jörg B, Riess, Olaf, Reetz, Kathrin, Klockgether, Thomas

Source: In The Lancet Neurology September 2020 19(9):738-747

Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations

Authors: Accogli, Andrea ^*, Severino, Mariasavina, Riva, Antonella, Madia, Francesca, Balagura, Ganna, Iacomino, Michele, Carlini, Barbara, Baldassari, Simona, Giacomini, Thea, Croci, Carolina, Pisciotta, Livia, Messana, Tullio, Boni, Antonella, Russo, Angelo, Bilo, Leonilda, Tonziello, Rosa, Coppola, Antonietta, Filla, Alessandro, Mecarelli, Oriano, Casalone, Rosario, Pisani, Francesco, Falsaperla, Raffaele, Marino, Silvia, Parisi, Pasquale, Ferretti, Alessandro, Elia, Maurizio, Luchetti, Anna, Milani, Donatella, Vanadia, Francesca, Silvestri, Laura, Rebessi, Erika, Parente, Eliana, Vatti, Giampaolo, Mancardi, Maria Margherita, Nobili, Lino, Capra, Valeria, Salpietro, Vincenzo, Striano, Pasquale ^**, Zara, Federico

Source: In Seizure: European Journal of Epilepsy August 2020 80:145-152

Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review

Authors: Galosi, Serena, Barca, Emanuele, Carrozzo, Rosalba, Schirinzi, Tommaso, Quinzii, Catarina Maria, Lieto, Maria, Vasco, Gessica, Zanni, Ginevra, Di Nottia, Michela, Galatolo, Daniele, Filla, Alessandro, Bertini, Enrico, Santorelli, Filippo Maria, Leuzzi, Vincenzo, Haas, Richard, Hirano, Michio, Friedman, Jennifer

Source: In Parkinsonism and Related Disorders November 2019 68:8-16

Spinocerebellar ataxia 48 presenting with ataxia associated with cognitive, psychiatric, and extrapyramidal features: A report of two Italian families

Authors: De Michele, Giovanna, Lieto, Maria, Galatolo, Daniele, Salvatore, Elena, Cocozza, Sirio, Barghigiani, Melissa, Tessa, Alessandra, Baldacci, Jacopo, Pappatà, Sabina, Filla, Alessandro, De Michele, Giuseppe, Santorelli, Filippo M.

Source: In Parkinsonism and Related Disorders August 2019 65:91-96

Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis

Authors: Cagnoli, Claudia, Brussino, Alessandro, Mancini, Cecilia, Ferrone, Marina, Orsi, Laura, Salmin, Paola, Pappi, Patrizia, Giorgio, Elisa, Pozzi, Elisa, Cavalieri, Simona, Di Gregorio, Eleonora, Ferrero, Marta, Filla, Alessandro, De Michele, Giuseppe, Gellera, Cinzia, Mariotti, Caterina, Nethisinghe, Suran, Giunti, Paola, Stevanin, Giovanni, Brusco, Alfredo

Source: In The Journal of Molecular Diagnostics May 2018 20(3):289-297

Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study

Authors: Diallo, Alhassane, Jacobi, Heike, Cook, Arron, Labrum, Robyn, Durr, Alexandra, Brice, Alexis, Charles, Perrine, Marelli, Cecilia, Mariotti, Caterina, Nanetti, Lorenzo, Panzeri, Marta, Rakowicz, Maria, Sobanska, Anna, Sulek, Anna, Schmitz-Hübsch, Tanja, Schöls, Ludger, Hengel, Holger, Melegh, Bela, Filla, Alessandro, Antenora, Antonella, Infante, Jon, Berciano, José, van de Warrenburg, Bart P, Timmann, Dagmar, Boesch, Sylvia, Pandolfo, Massimo, Schulz, Jörg B, Bauer, Peter, Giunti, Paola, Kang, Jun-Suk, Klockgether, Thomas, Tezenas du Montcel, Sophie

Source: In The Lancet Neurology April 2018 17(4):327-334

Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis (REGAIN): a phase 3, randomised, double-blind, placebo-controlled, multicentre study

Authors: Mazia, Claudio Gabriel, Wilken, Miguel, Ortea, Carolina, Saba, Juliet, Rugiero, Marcelo, Bettini, Mariela, Vidal, Gonzalo, Garcia, Alejandra Dalila, Lamont, Phillipa, Leong, Wai-Kuen, Boterhoven, Heidi, Fyfe, Beverly, Roberts, Leslie, Jasinarachchi, Mahi, Willlems, Natasha, Wanschitz, Julia, Löscher, Wolfgang, De Bleecker, Jan, Van den Abeele, Guy, de Koning, Kathy, De Mey, Katrien, Mercelis, Rudy, Wagemaekers, Linda, Mahieu, Delphine, Van Damme, Philip, Smetcoren, Charlotte, Stevens, Olivier, Verjans, Sarah, D'Hondt, Ann, Tilkin, Petra, Alves de Siqueira Carvalho, Alzira, Hasan, Rosa, Dias Brockhausen, Igor, Feder, David, Ambrosio, Daniel, Melo, Ana Paula, Rocha, Rosana, Rosa, Bruno, Veiga, Thabata, Augusto da Silva, Luiz, Gonçalves Geraldo, Jordana, da Penha Morita Ananias, Maria, Nogueira Coelho, Erica, Paiva, Gabriel, Pozo, Marina, Prando, Natalia, Dada Martineli Torres, Debora, Fernanda Butinhao, Cristiani, Coelho, Erica, Renata Cubas Volpe, Luciana, Duran, Gustavo, Gomes da Silva, Tamires Cristina, Otavio Maia Gonçalves, Luiz, Pazetto, Lucas Eduardo, Souza Duca, Luciana, Suriane Fialho, Tomás Augusto, Gheller Friedrich, Maurício André, Guerreiro, Alexandre, Mohr, Henrique, Pereira Martins, Maurer, da Cruz Pacheco, Daiane, Macagnan, Ana Paula, de Cassia Santos, Aline, Bulle Oliveira, Acary Souza, Amaral de Andrade, Ana Carolina, Annes, Marcelo, Cavalcante Lino, Valeria, Pinto, Wladimir, Miranda, Carolina, Carrara, Fernanda, Souza, Iandra, Genge, Angela, Massie, Rami, Campbell, Natasha, Bril, Vera, Katzberg, Hans, Soltani, Mehran, Ng, Eduardo, Siddiqi, Zaeem, Phan, Celile, Blackmore, Derrick, Vohanka, Stanislav, Bednarik, Josef, Chmelikova, Magda, Cierny, Marek, Toncrova, Stanislava, Junkerova, Jana, Kurkova, Barbora, Reguliova, Katarina, Zapletalova, Olga, Pitha, Jiri, Novakova, Iveta, Tyblova, Michaela, Wolfova, Marcela, Jurajdova, Ivana, Andersen, Henning, Harbo, Thomas, Vinge, Lotte, Mogensen, Anita, Højgaard, Joan, Witting, Nanna, Autzen, Anne Mette, Pedersen, Jane, Färkkilä, Markus, Atula, Sari, Nyrhinen, Anne, Erälinna, Juha-Pekka, Laaksonen, Mikko, Oksaranta, Olli, Eriksson, Jaana, Harrison, Tuula, Desnuelle, Claude, Sacconi, Sabrina, Soriani, Marie-Hélène, Decressac, Sonia, Moutarde, Julie, Lahaut, Pauline, Solé, Guilhem, Le Masson, Gwendal, Wielanek-Bachelet, Anne-Cécile, Gaboreau, Morgane, Moreau, Caroline, Wilson, Amy, Vial, Christophe, Bouhour, Françoise, Gervais-Bernard, Helene, Merle, Hélène, Hourquin, Caroline, Lacour, Arnaud, Outteryck, Olivier, Vermersch, Patrick, Zephir, Hélène, Millois, Edouard, Deneve, Michel, Deruelle, Fabienne, Schoser, Benedikt, Wenninger, Stephan, Stangel, Martin, Alvermann, Sascha, Gingele, Stefan, Skripuletz, Thomas, Suehs, Kurt-Wolfram, Trebst, Corinna, Fricke, Karin, Papagiannopoulos, Sotirios, Bostantzopoulou, Sevasti, Vlaikidis, Nicholas, Zampaki, Martha, Papadopoulou, Nikoletta, Mitsikostas, Dimos-Dimitrios, Kasioti, Eleni, Mitropoulou, Efstathia, Charalambous, Despoina, Rozsa, Csilla, Horvath, Melinda, Lovas, Gabor, Matolcsi, Judit, Szabo, Gyorgyi, Szabadosne, Brigitta, Vecsei, Laszlo, Dezsi, Livia, Varga, Edina, Konyane, Monika, Gross, Bella, Azrilin, Olga, Greenbereg, Nelly, Bali Kuperman, Hila, Antonini, Giovanni, Garibaldi, Matteo, Morino, Stefania, Troili, Fernanda, Di Pasquale, Antonella, Filla, Alessandro, Costabile, Teresa, Marano, Enrico, Sacca, Francesco, Marsil, Angela, Puorro, Giorgia, Maestri Tassoni, Michelangelo, De Rosa, Anna, Bonanno, Silvia, Antozzi, Carlo, Maggi, Lorenzo, Campanella, Angela, Angelini, Corrado, Cudia, Paola, Pegoraro, Valentina, Pinzan, Elena, Bevilacqua, Francesca, Orrico, Daniele, Bonifati, Domenico Marco, Evoli, Amelia, Alboini, Paolo Emilio, D'Amato, Valentina, Iorio, Raffaele, Inghilleri, Maurizio, Fionda, Laura, Frasca, Vittorio, Giacomelli, Elena, Gori, Maria, Lopergolo, Diego, Onesti, Emanuela, Gabriele, Maria, Patti, Francesco, Salvatore Caramma, Andrea, Messina, Silvia, Reggio, Ester, Caserta, Cinzia, Uzawa, Akiyuki, Kanai, Tetsuya, Mori, Masahiro, Kaneko, Yoko, Kanzaki, Akiko, Kobayashi, Eri, Masaki, Katsuhisa, Matsuse, Dai, Matsushita, Takuya, Uehara, Taira, Shimpo, Misa, Jingu, Maki, Kikutake, Keiko, Nakamura, Yumiko, Sano, Yoshiko, Nagane, Yuriko, Kamegamori, Ikuko, Fujii, Yuko, Futono, Kazumi, Tsuda, Tomoko, Saito, Yuka, Suzuki, Hidekazu, Morikawa, Miyuki, Samukawa, Makoto, Kamakura, Sachiko, Shiraishi, Hirokazu, Mitazaki, Teiichiro, Motomura, Masakatsu, Mukaino, Akihiro, Yoshimura, Shunsuke, Asada, Shizuka, Kobashikawa, Tomomi, Koga, Megumi, Maeda, Yasuko, Takada, Kazumi, Takada, Mihoko Takada, Yamashita, Yumi, Yoshida, Seiko, Suzuki, Yasushi, Akiyama, Tetsuya, Narikawa, Koichi, Tsukita, Kenichi, Meguro, Fumie, Fukuda, Yusuke, Sato, Miwako, Matsuo, Hidenori, Fukudome, Takayasu, Gondo, Yuichiro, Maeda, Yasuhiro, Nagaishi, Akiko, Nakane, Shunya, Okubo, Yoshinori, Okumura, Meinoshin, Funaka, Soichiro, Kawamura, Tomohiro, Makamori, Masayuki, Takahashi, Masanori, Hasuike, Tomoya, Higuchi, Eriko, Kobayashi, Hisako, Osakada, Kaori, Taichi, Namie, Tsuda, Emiko, Hayashi, Takashi, Hisahara, Shin, Imai, Tomihiro, Kawamata, Jun, Murahara, Takashi, Saitoh, Masaki, Shimohama, Shun, Suzuki, Shuichiro, Yamamoto, Daisuke, Konno, Shingo, Imamura, Tomomi, Inoue, Masashi, Murata, Mayumi, Nakazora, Hiroshi, Nakayama, Ritsu, Ikeda, Yasuko, Ogawa, Miki, Shirane, Maoko, Kanda, Takashi, Kawai, Motoharu, Koga, Michiaki, Ogasawara, Junichi, Omoto, Masatoshi, Sano, Yasuteru, Arima, Hideki, Fukui, Sachie, Shimose, Shigemi, Shinozaki, Hirokazu, Watanabe, Masanori, Yoshikawa, Chieko, van der Kooi, Anneke, de Visser, Marianne, Gibson, Tamar, Maessen, Jos, de Baets, Marc, Faber, Catherine, Keijzers, Maria Johanna, Miesen, Monique, Kostera-Pruszczyk, Anna, Kaminska, Anna, Kim, Byung-Jo, Lee, Chang Nyoung, Koo, Yong Seo, Seok, Hung Youl, Kang, Hoo Nam, Ra, HyeJin, Kim, Byoung Joon, Cho, Eun Bin, Lee, HyeLim, Min, Ju-Hong, Seok, Jinmyoung, Koh, Da Yoon, Kwon, JuYoung, Lee, JiEun, Park, SangAe, Hong, Yoon-Ho, Lim, Jae-Sung, Kim, MiRi, Kim, Seung Min, Kim, Yool-hee, Lee, Hyung Seok, Shin, Ha Young, Hwang, Eun Bi, Shin, MiJu, Sazonov, Denis, Yarmoschuk, Asya, Babenko, Larisa, Malkova, Nadezhda, Melnikova, Anna, Korobko, Denis, Kosykh, Evgeniya, Pokhabov, Dmitry, Nesterova, Yulia, Abramov, Vladislav, Balyazin, Victor, Casasnovas Pons, Carlos, Alberti Aguilo, Maria, Homedes-Pedret, Christian, Palacios, Natalia Julia, Lazaro, Ana, Diez Tejedor, Exuperio, Fernandez-Fournier, Mireya, Lopez Ruiz, Pedro, Rodriguez de Rivera, Francisco Javier, Salvado Figueras, Maria, Gamez, Josep, Salvado, Maria, Cortes Vicente, Elena, Diaz-Manera, Jordi, Querol Gutierrez, Luis, Rojas Garcia, Ricardo, Vidal, Nuria, Arribas-Ibar, Elisabet, Piehl, Fredrik, Hietala, Albert, Bjarbo, Lena, Lindberg, Christopher, Jons, Daniel, Andersson, Blanka, Sengun, Ihsan, Ozcelik, Pinar, Tuga, Celal, Ugur, Muzeyyen, Boz, Cavit, Altiparmak, Didem, Gazioglu, Sibel, Ozen Aydin, Cigdem, Erdem-Ozdamar, Sevim, Bekircan-Kurt, Can Ebru, Yilmaz, Ezgi, Acar, Nazire Pinar, Caliskan, Yagmur, Efendi, Husnu, Aydinlik, Seda, Cavus, Hakan, Semiz, Cansu, Tun, Ozlem, Terzi, Murat, Dogan, Baki, Onar, Musa Kazim, Sen, Sedat, Cavdar, Tugce Kirbas, Norwood, Fiona, Dimitriou, Aikaterini, Gollogly, Jakit, Mahdi-Rogers, Mohamed, Seddigh, Arshira, Maier, Gal, Sohail, Faisal, Sathasivam, Sivakumar, Arndt, Heike, Davies, Debbie, Watling, Dave, Rivner, Michael, Hartmann, J. Edward, Quarles, Brandy, Smalley, Nicole, Amato, Anthony, Cochrane, Thomas, Salajegheh, Mohammed, Roe, Kristen, Amato, Katherine, Toska, Shirli, Wolfe, Gil, Silvestri, Nicholas, Patrick, Kara, Zakalik, Karen, Katz, Jonathan, Miller, Robert, Engel, Marguerite, Bravver, Elena, Brooks, Benjamin, Plevka, Sarah, Burdette, Maryanne, Sanjak, Mohammad, Kramer, Megan, Nemeth, Joanne, Schommer, Clara, Juel, Vern, Guptill, Jeffrey, Hobson-Webb, Lisa, Beck, Kate, Carnes, Donna, Loor, John, Anderson, Amanda, Lange, Dale, Agopian, Eliz, Goldstein, Jonathan, Manning, Erin, Kaplan, Lindsay, Holzberg, Shara, Kassebaum, Nicole, Pascuzzi, Robert, Bodkin, Cynthia, Kincaid, John, Snook, Riley, Guinrich, Sandra, Micheels, Angela, Chaudhry, Vinay, Corse, Andrea, Mosmiller, Betsy, Ho, Doreen, Srinivasan, Jayashri, Vytopil, Michael, Ventura, Nicholas, Scala, Stephanie, Carter, Cynthia, Donahue, Craig, Herbert, Carol, Weiner, Elaine, McKinnon, Jonathan, Haar, Laura, McKinnon, Naya, Alcon, Karan, Daniels, Kevin, Sattar, Nadia, Jeffery, Dennis, McKenna, Kaitlyn, Guidon, Amanda, David, William, Dheel, Christina, Levine-Weinberg, Mark, Nigro, Catherine, Simpson, Ericka, Appel, Stanley H, Lai, Eugene, Lay, Jr, Luis, Pleitez, Milvia, Halton, Sharon, Faigle, Casey, Thompson, Lisa, Sivak, Mark, Shin, Susan, Bratton, Joan, Jacobs, Daniel, Brown, Gavin, Bandukwala, Ibrez, Brown, Morris, Kane, Jennifer, Blount, Ira, Freimer, Miriam, Hoyle, J. Chad, Agriesti, Julie, Khoury, Julie, Marburger, Tessa, Kaur, Harpreet, Dimitrova, Diana, Mellion, Michelle, Sachs, George, Crabtree, Brigid, Keo, Roseann, Perez, Ele Kim, Taber, Sandra, Gilchrist, James, Andoin, Angela, Darnell, Taylor, Goyal, Neelam, Sakamuri, Sarada, So, Yuen T, Welsh, Lesly Welsh, Bhavaraju-Sanka, Ratna, Tobon Gonzalez, Alejandro, Jones, Floyd, Saklad, Amy, Nations, Sharon, Trivedi, Jaya, Hopkins, Steve, Kazamel, Mohamed, Alsharabati, Mohammad, Lu, Liang, Mumfrey-Thomas, Sandi, Woodall, Amy, Richman, David, Butters, Janelle, Lindsay, Molly, Mozaffar, Tahseen, Cash, Tiyonnoh, Goyal, Namita, Roy, Gulmohor, Mathew, Veena, Maqsood, Fatima, Minton, Brian, Jones, H. James, Rosenfeld, Jeffrey, Garcia, Rebekah, Garcia, Sonia, Echevarria, Laura, Pulley, Michael, Aranke, Shachie, Berger, Alan Ross, Shah, Jaimin, Shabbir, Yasmeen, Smith, Lisa, Varghese, Mary, Gutmann, Laurie, Gutmann, Ludwig, Swenson, Andrea, Olalde, Heena, Hafer-Macko, Charlene, Kwan, Justin, Zilliox, Lindsay, Callison, Karen, DiSanzo, Beth, Naunton, Kerry, Bilsker, Martin, Sharma, Khema, Reyes, Eliana, Cooley, Anne, Michon, Sara-Claude, Steele, Julie, Karam, Chafic Karam, Chopra, Manisha, Bird, Shawn, Kaufman, Jacob, Gallatti, Nichole, Vu, Tuan, Katzin, Lara, McClain, Terry, Harvey, Brittany, Hart, Adam, Huynh, Kristin, Beydoun, Said, Chilingaryan, Amaiak, Droker, Brian, Lin, Frank, Shah, Akshay, Tran, Anh, Akhter, Salma, Malekniazi, Ali, Tandan, Rup, Hehir, Michael, Waheed, Waqar, Lucy, Shannon, Weiss, Michael, Distad, Jane, Downing, Sharon, Strom, Susan, Lisak, Robert, Bernitsas, Evanthia, Khan, Omar, Kumar Sriwastava, Shitiz, Tselis, Alexandros, Jia, Kelly, Bertorini, Tulio, Arnold, Thomas, Henderson, Kendrick, Pillai, Rekha, Liu, Ye, Wheeler, Lauren, Hewlett, Jasmine, Vanderhook, Mollie, Dicapua, Daniel, Keung, Benison, Kumar, Aditya, Patwa, Huned, Robeson, Kimberly, Nye, Joan, Vu, Hong, Howard, James F, Jr, Utsugisawa, Kimiaki, Benatar, Michael, Murai, Hiroyuki, Barohn, Richard J, Illa, Isabel, Jacob, Saiju, Vissing, John, Burns, Ted M, Kissel, John T, Muppidi, Srikanth, Nowak, Richard J, O'Brien, Fanny, Wang, Jing-Jing, Mantegazza, Renato

Source: In The Lancet Neurology December 2017 16(12):976-986

SCAR32: Functional characterization and expansion of the clinical‐genetic spectrum.

Authors: Naef, Valentina, Lieto, Maria, Satolli, Sara, De Micco, Rosa, Troisi, Martina, Pasquariello, Rosa, Doccini, Stefano, Privitera, Flavia, Filla, Alessandro, Tessitore, Alessandro, Santorelli, Filippo Maria

Source: Annals of Clinical & Translational Neurology; Jul2024, Vol. 11 Issue 7, p1879-1886, 8p

Subject Terms: OXYGEN consumption, CEREBELLUM degeneration, SPINOCEREBELLAR ataxia, CEREBELLAR ataxia, REACTIVE oxygen species, ZEBRA danio, GENETIC mutation, NERVOUS system

Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

Authors: Campuzano, Victoria, Montermini, Laura, Moltò, Maria Dolores, Pianese, Luigi, Cossée, Mireille, Cavalcanti, Francesca, Monros, Eugenia, Rodius, François, Duclos, Franck, Monticelli, Antonella, Zara, Federico, Cañizares, Joaquin, Koutnikova, Hana, Bidichandani, Sanjay I., Gellera, Cinzia, Brice, Alexis, Trouillas, Paul, De Michele, Giuseppe, Filla, Alessandro, De Frutos, Rosa, Palau, Francisco, Patel, Pragna I., Di Donato, Stefano, Mandel, Jean-Louis, Cocozza, Sergio, Koenig, Michel, Pandolfo, Massimo

Source: Science, 1996 Mar 01. 271(5254), 1423-1427.

Access URL: https://www.jstor.org/stable/2890274

Spectral Domain and Angiography Optical Coherence Tomography in Parkinson's Disease: Structural And Vascular Changes in the Retina Correlate with Disease Severity and Progression.

Authors: Di Maio, Laura Giovanna, Cennamo, Gilda, Montorio, Daniela, De Michele, Giovanna, Palmieri, Gianluigi Rosario, Baratto, Luigi, Perillo, Sandra, Giglio, Augusta, Filla, Alessandro, Brescia Morra, Vincenzo, De Michele, Giuseppe, Costagliola, Ciro, De Rosa, Anna

Source: Acta Neurologica Scandinavica; 4/15/2024, Vol. 2024, p1-9, 9p

Subject Terms: PARKINSON'S disease, OPTICAL coherence tomography, TREMOR, MOVEMENT disorders, RETINAL diseases, DISEASE progression, ANGIOGRAPHY

Ataxia and Hypogonadism: a Review of the Associated Genes and Syndromes.

Authors: De Michele, Giovanna, Maione, Luigi, Cocozza, Sirio, Tranfa, Mario, Pane, Chiara, Galatolo, Daniele, De Rosa, Anna, De Michele, Giuseppe, Saccà, Francesco, Filla, Alessandro

Source: Cerebellum; Apr2024, Vol. 23 Issue 2, p688-701, 14p

Subject Terms: HYPOGONADISM, ATAXIA, CEREBELLAR ataxia, SYNDROMES, GENETIC disorders, KALLMANN syndrome

The Effect of Cerebellar Degeneration on Human Sensori-motor Plasticity

Authors: Dubbioso, Raffaele, Pellegrino, Giovanni, Antenora, Antonella, De Michele, Giuseppe, Filla, Alessandro, Santoro, Lucio, Manganelli, Fiore

Source: In Brain Stimulation November-December 2015 8(6):1144-1150

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study

Authors: Jacobi, Heike, du Montcel, Sophie Tezenas, Bauer, Peter, Giunti, Paola, Cook, Arron, Labrum, Robyn, Parkinson, Michael H, Durr, Alexandra, Brice, Alexis, Charles, Perrine, Marelli, Cecilia, Mariotti, Caterina, Nanetti, Lorenzo, Panzeri, Marta, Rakowicz, Maria, Sulek, Anna, Sobanska, Anna, Schmitz-Hübsch, Tanja, Schöls, Ludger, Hengel, Holger, Baliko, Laszlo, Melegh, Bela, Filla, Alessandro, Antenora, Antonella, Infante, Jon, Berciano, José, van de Warrenburg, Bart P, Timmann, Dagmar, Szymanski, Sandra, Boesch, Sylvia, Kang, Jun-Suk, Pandolfo, Massimo, Schulz, Jörg B, Molho, Sonia, Diallo, Alhassane, Klockgether, Thomas

Source: In The Lancet Neurology November 2015 14(11):1101-1108

Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data

Authors: Jacobi, Heike, Reetz, Kathrin, du Montcel, Sophie Tezenas, Bauer, Peter, Mariotti, Caterina, Nanetti, Lorenzo, Rakowicz, Maria, Sulek, Anna, Durr, Alexandra, Charles, Perrine, Filla, Alessandro, Antenora, Antonella, Schöls, Ludger, Schicks, Julia, Infante, Jon, Kang, Jun-Suk, Timmann, Dagmar, Fabio, Roberto Di, Masciullo, Marcella, Baliko, Laszlo, Melegh, Bela, Boesch, Sylvia, Bürk, Katrin, Peltz, Annkathrin, Schulz, Jörg B, Dufaure-Garé, Isabelle, Klockgether, Thomas

Source: In Lancet Neurology July 2013 12(7):650-658

A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A.

Authors: Torella, Annalaura, Ricca, Ivana, Piluso, Giulio, Galatolo, Daniele, De Michele, Giuseppe, Zanobio, Mariateresa, Trovato, Rosanna, De Michele, Giovanna, Zeuli, Roberta, Pane, Chiara, Cocozza, Sirio, Saccà, Francesco, Santorelli, Filippo M., Nigro, Vincenzo, Filla, Alessandro

Source: Journal of Neurology; Oct2023, Vol. 270 Issue 10, p5057-5063, 7p

Subject Terms: ATAXIA, TUBULINS, NEURODEGENERATION, GENETIC mutation, MICROTUBULES