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TITLE: Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3
AUTHORS: Mercedes Prudencio; Hector Garcia Moreno; Karen R Jansen West; Rana Hanna AL Shaikh; Tania F Gendron; Michael G Heckman; Matthew R Spiegel; Yari Carlomagno; Lillian M Daughrity; Yuping P Song; Judith A Dunmore; Natalie Byron; Bjorn Oskarsson; Katharine A Nicholson; Nathan P Staff; Sorina Gorcenco; Andreas Puschmann; Joao Lemos; Cristina Januario; Mark S LeDoux; Joseph H Friedman; James Polke; Robin Labrum; Vikram Shakkottai; Hayley S McLoughlin; Henry L Paulson; Takuya Konno; Osamu Onodera; Takeshi Ikeuchi; Mari Tada; Akiyoshi Kakita; John D Fryer; Christin Karremo; Ines Gomes; John N Caviness; Mark R Pittelkow; Jan Aasly; Ronald F Pfeiffer; Venka Veerappan; Eric R Eggenberger; William D Freeman; Josephine F Huang; Ryan J Uitti; Klaas J Wierenga; Iris Marin M Collazo; Philip W Tipton; Jay A van Gerpen; Marka van Blitterswijk; Guojun J Bu; Zbigniew K Wszolek; Paola Giunti; Leonard Petrucelli; ...More
PUBLISHED: 2020, SOURCE: SCIENCE TRANSLATIONAL MEDICINE, VOLUME: 12, ISSUE: 566
INDEXED IN: Scopus WOS
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TITLE: Retinal Vasculopathy With Cerebral Leukodystrophy: Clinicopathologic Features of an Autopsied Patient With a Heterozygous TREX 1 Mutation
AUTHORS: Saito, R; Nozaki, H; Kato, T; Toyoshima, Y; Tanaka, H; Tsubata, Y; Morioka, T; Horikawa, Y; Oyanagi, K; Morita, T; Onodera, O; Kakita, A;
PUBLISHED: 2019, SOURCE: Journal of neuropathology and experimental neurology, VOLUME: 78, ISSUE: 2
INDEXED IN: Scopus
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TITLE: A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories
AUTHORS: Chizuru Akimoto; Alexander E Volk; Marka van Blitterswijk; Marleen Van den Broeck; Claire S Leblond; Serge Lumbroso; William Camu; Birgit Neitzel; Osamu Onodera; Wouter van Rheenen; Susana Pinto ; Markus Weber; Bradley Smith; Melanie Proven; Kevin Talbot; Pamela Keagle; Alessandra Chesi; Antonia Ratti; Julie van der Zee; Helena Alstermark; Anna Birve; Daniela Calini; Angelica Nordin; Daniela C Tradowsky; Walter Just; Hussein Daoud; Sabrina Angerbauer; Mariely DeJesus Hernandez; Takuya Konno; Anjali Lloyd Jani; Mamede de Carvalho; Kevin Mouzat; John E Landers; Jan H Veldink; Vincenzo Silani; Aaron D Gitler; Christopher E Shaw; Guy A Rouleau; Leonard H van den Berg; Christine Van Broeckhoven; Rosa Rademakers; Peter M Andersen; Christian Kubisch; ...More
PUBLISHED: 2014, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 51, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef