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    Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study by Schon, Katherine R, Horvath, Rita, Wei, Wei, Calabrese, Claudia, Tucci, Arianna, Ibañez, Kristina, Ratnaike, Thiloka, Pitceathly, Robert D S, Bugiardini, Enrico, Quinlivan, Rosaline, Hanna, Michael G, Clement, Emma, Ashton, Emma, Sayer, John A, Brennan, Paul, Josifova, Dragana, Izatt, Louise, Fratter, Carl, Nesbitt, Victoria, Barrett, Timothy, McMullen, Dominic J, Smith, Audrey, Deshpande, Charulata, Smithson, Sarah F, Festenstein, Richard, Canham, Natalie, Caulfield, Mark, Houlden, Henry, Rahman, Shamima, Chinnery, Patrick F, Ambrose, John C, Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R, Brittain, Helen, Caulfield, Mark J, Chan, Georgia C, Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J P, Jackson, Rob, Jones, Louise J, Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E A, Leong, Ivonne U S, Lopez, Javier F, Maleady-Crowe, Fiona, McEntegart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C, O’Donovan, Peter, Odhams, Chris A, Patch, Christine, Buonerimo Pereira, Mariana, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H, Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C, Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R A, Thompson, Simon R, Tucci, Arianna, Welland, Matthew J, Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M

    Published in BMJ (Online)
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    Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis by Dewan, Ramita, Keagle, Pamela, Bacikova, Dagmar, Soltis, Anthony R., Kost, Jason, Colombrita, Claudia, Lewis, Elizabeth A., Pensato, Viviana, Castellotti, Barbara, McLaughlin, Russell L., Comi, Giacomo P., Ceroni, Mauro, Gagliardi, Stella, van Blitterswijk, Marka, Corrado, Lucia, Sorarù, Gianni, Williams, Kelly L., Morrison, Karen E., Veldink, Jan H., Brown, Robert H., Ambrose, John C., Brittain, H., Elgar, Greg, Halai, Dina, Holman, James E., Jackson, Rob, Leong, Ivonne U.S., Maleady-Crowe, Fiona, Mason, Joanne, Riesgo-Ferreiro, Pablo, Rogers, Tim, Watters, Sarah A., Arepalli, Sampath, Chiò, Adriano, Dunckley, Travis L., Faghri, Faraz, Feldman, Eva, Floeter, Mary Kay, Gerhard, Glenn, Jansson, Lilja, Kirby, Janine, Mora, Gabriele, Nalls, Mike A., Pulst, Stefan M., Ravits, John M., Renton, Alan E., Robberecht, Wim, Robey, Ian, Dols-Icardo, Oriol, Illán-Gala, Ignacio, Lleó, Alberto, Khoshnood, Behzad, Sorbi, Sandro, Pastor, Pau, Bigio, Eileen H., Black, Sandra E., Brunetti, Maura, Canosa, Antonio, Gan-Or, Ziv, Goate, Alison, Hupalo, Daniel, Infante, Jon, Kaufmann, Horacio, Kim, Ronald C., Krüger, Rejko, Logroscino, Giancarlo, Love, Seth, Mao, Qinwen, Masliah, Eliezer, Pletnikova, Olga, Reynolds, Regina H., Scherzer, Clemens R., Serrano, Geidy E., Xiromerisiou, Georgia, Phatnani, Hemali, Kwan, Justin, Broach, James R., Arcila-Londono, Ximena, Malaspina, Andrea, Thompson, Leslie M., Dardiotis, Efthimios, Chandran, Siddharthan, Butovsky, Oleg, Dubnau, Joshua, Harms, Matt, Poss, Mary, Phillips-Cremins, Jennifer, Altschuler, Steven, Hu, Michele T.M., Leigh, P. Nigel, Massey, Luke A., Pavese, Nicola, Vaughan, Jenny, Rowe, James B., Ghidoni, Roberta, Ryten, Mina, Tanaka, Toshiko, Ferrucci, Luigi, Vonsattel, Jean Paul, Landers, John E.

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    Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration by Vetro, Annalisa, Pelorosso, Cristiana, Balestrini, Simona, Masi, Alessio, Hambleton, Sophie, Argilli, Emanuela, Giubbolini, Simone, Barrick, Rebekah, Bergant, Gaber, Writzl, Karin, Bijlsma, Emilia K., Cacheiro, Pilar, Mei, Davide, Devlin, Anita, Machol, Keren, Mannaioni, Guido, Sakamoto, Masamune, Menezes, Manoj P., Courtin, Thomas, Sherr, Elliott, Parra, Riccardo, Richardson, Ruth, Roscioli, Tony, Scala, Marcello, von Stülpnagel, Celina, Smedley, Damian, Pochiero, Francesca, Ramesh, Venkateswaran, Capra, Valeria, Mancardi, Margherita, Keren, Boris, Mignot, Cyiril, Lulli, Matteo, Parks, Kendall, Griffin, Helen, Nigro, Vincenzo, Hirata, Yuko, Koichihara, Reiko, Peterlin, Borut, Maki, Ryuto, Nitta, Yohei, Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boustred, Christopher R., Brittain, Helen, Brown, Matthew A., Caulfield, Mark J., Chan, Georgia C., Giess, Adam, Griffin, John N., Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Lakey, Anna, Lopez, Javier F., Maleady-Crowe, Fiona, Minneci, Federico, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Rahim, Tahrima, Rendon, Augusto, Sawant, Kushmita, Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena, Torella, Annalaura, Tohyama, Jun, Hamada, Keisuke, Ogata, Kazuhiro, Sugie, Atsushi, van der Smagt, Jasper J., van Gassen, Koen, Valence, Stephanie, Vittery, Emma, Malone, Stephen, Kato, Mitsuhiro, Ratto, Gian Michele, Guerrini, Renzo

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