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Painful small fiber neuropathy with gastroparesis: A new phenotype with a novel mutation in the SCN10A gene

Autor: Dabby, Ron, Sadeh, Menachem, Broitman, Yelena, Yosovich, Keren, Dickman, Ram, Leshinsky-Silver, Esther

Publikováno v: In Journal of Clinical Neuroscience April 2016 26:84-88

Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS)

Autor: Dispenzieri, Angela, Coelho, Teresa, Conceição, Isabel, Waddington-Cruz, Márcia, Wixner, Jonas, Kristen, Arnt V., Rapezzi, Claudio, Planté-Bordeneuve, Violaine, Gonzalez-Moreno, Juan, Maurer, Mathew S., Grogan, Martha, Chapman, Doug, Amass, Leslie, Pavia, Pablo Garcia, Tarnev, Ivaylo, Costello, Jose Gonzalez, Briseno, Maria Alejandra Gonzalez Duarte, Schmidt, Hartmut, Drachman, Brian, Barroso, Fabio Adrian, Yamashita, Taro, Lairez, Olivier, Sekijima, Yoshiki, Vita, Giuseppe, Jeon, Eun-Seok, Hanna, Mazen, Slosky, David, Luigetti, Marco, LoRusso, Samantha, Beamud, Francisco Munoz, Adams, David, Moelgaard, Henning, Press, Rayomand, Cirami, Calogero Lino, Nienhuis, Hans, Plana, Josep Maria Campistol, Inamo, Jocelyn, Jacoby, Daniel, Emdin, Michele, Quan, Dianna, Hummel, Scott, Witteles, Ronald, Dori, Amir, Shah, Sanjiv, Lenihan, Daniel, Azevedo, Olga, Murali, Srinivas, Zivkovic, Sasa, Low, Soon Chai, Nativi-Nicolau, Jose, Fine, Nowell, Tallaj, Jose, Tschoepe, Carsten, Torrón, Roberto Fernandéz, Polydefkis, Michael, Merlini, Giampaolo, Badelita, Sorina, Gottlieb, Stephen, Tauras, James, Correia, Edileide Barros, Ventura, Hector, Gess, Burkhard, Darstein, Felix, Oh, Jeeyoung, Marburger, Tessa, Van Cleemput, Johan, Salutto, Valeria Lujan, Parman, Yesim, Chao, Chi-Chao, Sarswat, Nitasha, Mueller, Christopher, Steidley, David, Ralph, Jeffrey, Warner, Alberta, Cotts, William, Hoffman, James, Rugiero, Marcelo, Misawa, Sonoko, Blanco, Jose Luis Munoz, Davila, Lucia Galan, Sadeh, Menachem, Luo, Jin, Kyriakides, Theodoros, Wang, Annabel, Kaufmann, Horacio

Publikováno v: Orphanet journal of rare diseases, 17(1):236. BMC
Dispenzieri, A, Coelho, T, Conceição, I, Waddington-Cruz, M, Wixner, J, Kristen, A V, Rapezzi, C, Planté-Bordeneuve, V, Gonzalez-Moreno, J, Maurer, M S, Grogan, M, Chapman, D, Amass, L & the THAOS investigators 2022, ' Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS) : 14-year update ', Orphanet Journal of Rare Diseases, vol. 17, no. 1, 236 . https://doi.org/10.1186/s13023-022-02359-w

Background Transthyretin amyloidosis (ATTR amyloidosis) is a rare, life-threatening disease caused by the accumulation of variant or wild-type (ATTRwt amyloidosis) transthyretin amyloid fibrils in the heart, peripheral nerves, and other tissues and o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::420df607c2ba73b78642172f6878f2fe
https://research.rug.nl/en/publications/eaf11104-5e3a-4a1c-8290-0036357b6da7

Chronic non-paroxysmal neuropathic pain — Novel phenotype of mutation in the sodium channel SCN9A gene

Autor: Dabby, Ron, Sadeh, Menachem, Gilad, Ronit, Lampl, Yair, Cohen, Sarit, Inbar, Shani, Leshinsky-Silver, Esther

Publikováno v: In Journal of the Neurological Sciences 2011 301(1):90-92