Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey von El-Hassar, Lynda, Amara, Ahmed, Sanson, Benoit, Lacatus, Oana, Amir Belhouchet, Ahmed, Kroneman, Madelon, Claeys, Kristl, Plançon, Jean Philippe, Rodolico, Carmelo, Primiano, Guido, Trojsi, Francesca, Filosto, Massimiliano, Mongini, Tiziana Enrica, Bortolani, Sara, Monforte, Mauro, Carraro, Elena, Maggi, Lorenzo, Ricci, Federica, Silani, Vincenzo, Orsucci, Daniele, Créange, Alain, Péréon, Yann, Stojkovic, Tanya, van der Beek, Nadine Anna Maria Elisabeth, Toscano, Antonio, Pareyson, Davide, Attarian, Shahram, Van den Bergh, Peter Y.K., Remiche, Gauthier, Hoeijmakers, Janneke G.J., Badrising, Umesh, Voermans, Nicol C., Kaindl, Angela M., Schara-Schmidt, Ulrike, Schoser, Benedikt, Gazzerro, Elisabetta, Haberlová, Jana, Voháňka, Stanislav, Pál, Endre, Molnar, Maria Judit, Leonardis, Lea, Tournev, Ivailo L, Osorio, Andrés Nascimento, Olivé, Montse, Muelas, Nuria, Alonso-Perez, Jorge, Plá, Francesc, de Visser, Marianne, Siciliano, Gabriele, Sacconi, Sabrina

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HELIOS-A: 9-month Results from the Phase 3 Study of Vutrisiran in Patients with Hereditary Transthyretin-Mediated Amyloidosis with Polyneuropathy (1234) von Adams, David, Tournev, Ivailo L., Taylor, Mark S., Coelho, Teresa, Planté-Bordeneuve, Violaine, Berk, John L., González-Duarte, Alejandra, Gillmore, Julian D., Low, Soon-Chai, Sekijima, Yoshiki, Obici, Laura, Blakesley, Rick, Arum, Seth, Shilling, Rebecca, Vest, John, Polydefkis, Michael

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Efficacy and safety of vutrisiran for patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy: a randomized clinical trial von Adams, David, Tournev, Ivailo L, Taylor, Mark S, Coelho, Teresa, Plante-Bordeneuve, Violaine, Berk, John L, Gonzalez-Duarte, Alejandra, Gillmore, Julian D, Low, Soon-Chai, Sekijima, Yoshiki, Obici, Laura, Chen, Chongshu, Badri, Prajakta, Arum, Seth M, Vest, John, Polydefkis, Michael

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Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey von El-Hassar, Lynda, Amara, Ahmed, Sanson, Benoit, Lacatus, Oana, Belhouchet, Ahmed Amir, Kroneman, Madelon, Claeys, Kristl, Plancon, Jean Philippe, Rodolico, Carmelo, Primiano, Guido, Trojsi, Francesca, Filosto, Massimiliano, Mongini, Tiziana Enrica, Bortolani, Sara, Monforte, Mauro, Carraro, Elena, Maggi, Lorenzo, Ricci, Federica, Silani, Vincenzo, Orsucci, Daniele, Creange, Alain, Pereon, Yann, Stojkovic, Tanya, van der Beek, Nadine Anna Maria Elisabeth, Toscano, Antonio, Pareyson, Davide, Attarian, Shahram, Van den Bergh, Peter Y.K, Remiche, Gauthier, Hoeijmakers, Janneke G.J, Badrising, Umesh, Voermans, Nicol C, Kaindl, Angela M, Schara-Schmidt, Ulrike, Schoser, Benedikt, Gazzerro, Elisabetta, Haberlova, Jana, Vohanka, Stanislav, Pal, Endre, Molnar, Maria Judit, Leonardis, Lea, Tournev, Ivailo L, Osorio, Andres Nascimento, Olive, Montse, Muelas, Nuria, Alonso-Perez, Jorge, Pla, Francesc, de Visser, Marianne, Siciliano, Gabriele, Sacconi, Sabrina

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Efficacy and safety of vutrisiran for patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy: a randomized clinical trial von Adams, David, Tournev, Ivailo L, Taylor, Mark S, Coelho, Teresa, Planté-Bordeneuve, Violaine, Berk, John L, González-Duarte, Alejandra, Gillmore, Julian D, Low, Soon-Chai, Sekijima, Yoshiki, Obici, Laura, Chen, Chongshu, Badri, Prajakta, Arum, Seth M, Vest, John, Polydefkis, Michael

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Efficacy and safety of vutrisiran for patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy: a randomized clinical trial von Adams, David, Tournev, Ivailo L., Taylor, Mark S., Coelho, Teresa, Planté-Bordeneuve, Violaine, Berk, John L., González-Duarte, Alejandra, Gillmore, Julian D., Low, Soon-Chai, Sekijima, Yoshiki, Obici, Laura, Chen, Chongshu, Badri, Prajakta, Arum, Seth M., Vest, John, Polydefkis, Michael

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OD15-2. HELIOS-A : Phase 3 Study of Vutrisiran in Patients with ATTRv Amyloidosis with Polyneuropathy von Mitsuharu Ueda, David Adams, Ivailo L Tournev, Mark S Taylor, Teresa Coelho, Violaine Plante-Bordeneuve, John L Berk, Alejandra Gonzalez-Duarte, Julian D Gillmore, Soon-Chai Low, Yoshiki Sekijima, Laura Obici, Rick Blakesley, Seth Arum, Rebecca Shilling, John Vest, Michael Polydefkis

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Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis von Adams, David, Gonzalez-Duarte, Alejandra, O’Riordan, William D, Yang, Chih-Chao, Ueda, Mitsuharu, Kristen, Arnt V, Tournev, Ivailo, Schmidt, Hartmut H, Coelho, Teresa, Berk, John L, Lin, Kon-Ping, Vita, Giuseppe, Attarian, Shahram, Planté-Bordeneuve, Violaine, Mezei, Michelle M, Campistol, Josep M, Buades, Juan, Brannagan, Thomas H, Kim, Byoung J, Oh, Jeeyoung, Parman, Yesim, Sekijima, Yoshiki, Hawkins, Philip N, Solomon, Scott D, Polydefkis, Michael, Dyck, Peter J, Gandhi, Pritesh J, Goyal, Sunita, Chen, Jihong, Strahs, Andrew L, Nochur, Saraswathy V, Sweetser, Marianne T, Garg, Pushkal P, Vaishnaw, Akshay K, Gollob, Jared A, Suhr, Ole B

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Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy von Timmerman, Vincent, Jordanova, Albena, Irobi, Joy, Thomas, Florian P, Van Dijck, Patrick, Meerschaert, Kris, Dewil, Maarten, Dierick, Ines, Jacobs, An, De Vriendt, Els, Guergueltcheva, Velina, Rao, Chitharanjan V, Tournev, Ivailo, Gondim, Francisco A A, D'Hooghe, Marc, Van Gerwen, Veerle, Callaerts, Patrick, Van Den Bosch, Ludo, Timmermans, Jean-Pièrre, Robberecht, Wim, Gettemans, Jan, Thevelein, Johan M, De Jonghe, Peter, Kremensky, Ivo

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The Effective Mutation Rate at Y Chromosome Short Tandem Repeats, with Application to Human Population-Divergence Time von Zhivotovsky, Lev A., Underhill, Peter A., Cinnioğlu, Cengiz, Kayser, Manfred, Morar, Bharti, Kivisild, Toomas, Scozzari, Rosaria, Cruciani, Fulvio, Destro-Bisol, Giovanni, Spedini, Gabriella, Chambers, Geoffrey K., Herrera, Rene J., Yong, Kiau Kiun, Gresham, David, Tournev, Ivailo, Feldman, Marcus W., Kalaydjieva, Luba

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Impact of genotype and phenotype on cardiac biomarkers in patients with transthyretin amyloidosis - Report from the Transthyretin Amyloidosis Outcome Survey (THAOS) von Kristen, Arnt V, Maurer, Mathew S, Rapezzi, Claudio, Mundayat, Rajiv, Suhr, Ole B, Damy, Thibaud

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Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy von Vennekens, Krist'l, Broeckhoven, Christine Van, Vandekerckhove, Joël, Mazanec, Radim, Jacobs, An, Gerwen, Veerle Van, Irobi, Joy, Jonghe, Peter De, Impe, Katrien Van, Gettemans, Jan, Vriendt, Els De, Hilton-Jones, David, Talbot, Kevin, Dierick, Ines, Michalik, Andrej, Seeman, Pavel, Verpoorten, Nathalie, Jordanova, Albena, Kremensky, Ivo, Robberecht, Wim, Tournev, Ivailo, Bosch, Ludo Van Den, Timmerman, Vincent

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Mutation History of the Roma/Gypsies von Morar, Bharti, Gresham, David, Angelicheva, Dora, Tournev, Ivailo, Gooding, Rebecca, Guergueltcheva, Velina, Schmidt, Carolin, Abicht, Angela, Lochmüller, Hanns, Tordai, Attila, Kalmár, Lajos, Nagy, Melinda, Karcagi, Veronika, Jeanpierre, Marc, Herczegfalvi, Agnes, Beeson, David, Venkataraman, Viswanathan, Warwick Carter, Kim, Reeve, Jeff, de Pablo, Rosario, Kučinskas, Vaidutis, Kalaydjieva, Luba

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Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome von Kremensky, Ivo, Guerguelcheva, Velina, Swoboda, Kathryn, Baas, Frank, Kwa, Marcel, Gooding, Rebecca, Marns, Lorna, Ambrugger, Petra, Steglich, Christina, Bürger, Joachim, von Moers, Arpad, Müllner-Eidenböck, Andrea, Neumann, Luitgard, Yong, Kiau Kiun, Merlini, Luciano, Lochmüller, Hanns, Varon, Raymonda, Risch, Neil, Walter, Maggie, Morar, Bharti, Tournev, Ivailo, Kalaydjieva, Luba, Angelicheva, Dora, Tang, Hua, Reinhold, Anke, Thomas, P K

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Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy von Lochmüller, Hanns, Behin, Anthony, Tournev, Ivailo, Tarnopolsky, Mark, Horváth, Rita, Pogoryelova, Oksana, Shah, Jinay, Koutsoukos, Tony, Skrinar, Alison, Kakkis, Emil, Bedrosian, Camille L., Mozaffar, Tahseen

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A Novel Locus for Autosomal Recessive Peripheral Neuropathy in the EGR2 Region on 10q23 von Rogers, Tamara, Chandler, David, Angelicheva, Dora, Thomas, P.K., Youl, Bryan, Tournev, Ivailo, Gergelcheva, Velina, Kalaydjieva, Luba

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NDRG1 interacts with APO A-I and A-II and is a functional candidate for the HDL-C QTL on 8q24 von Hunter, Michael, Angelicheva, Dora, Tournev, Ivailo, Ingley, Evan, Chan, Dick C., Watts, Gerald F., Kremensky, Ivo, Kalaydjieva, Luba

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Origins and Divergence of the Roma (Gypsies) von Gresham, David, Morar, Bharti, Underhill, Peter A., Passarino, Giuseppe, Lin, Alice A., Wise, Cheryl, Angelicheva, Dora, Calafell, Francesc, Oefner, Peter J., Shen, Peidong, Tournev, Ivailo, de Pablo, Rosario, Kuĉinskas, Vaidutis, Perez-Lezaun, Anna, Marushiakova, Elena, Popov, Vesselin, Kalaydjieva, Luba

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Patterns of inter- and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages von Kalaydjieva, L, Calafell, F, Jobling, M A, Angelicheva, D, de Knijff, P, Rosser, Z H, Hurles, M E, Underhill, P, Tournev, I, Marushiakova, E, Popov, V

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SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve von Bennett, Craig L., Shirk, Andrew J., Huynh, Huy M., Street, Valerie A., Nelis, Eva, Van Maldergem, Lionel, De Jonghe, Peter, Jordanova, Albena, Guergueltcheva, Velina, Tournev, Ivailo, Van den Bergh, Peter, Seeman, Pavel, Mazanec, Radim, Prochazka, Tomas, Kremensky, Ivo, Haberlova, Jana, Weiss, Michael D., Timmerman, Vincent, Bird, Thomas D., Chance, Phillip F.

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