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Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS
Gendron, Tania F., Bieniek, Kevin F., Zhang, Yong-Jie, Jansen-West, Karen, Ash, Peter E. A., Caulfield, Thomas, Daughrity, Lillian, Dunmore, Judith H., Castanedes-Casey, Monica, Chew, Jeannie, Cosio, Danielle M., van Blitterswijk, Marka, Lee, Wing C., Rademakers, Rosa, Boylan, Kevin B., Dickson, Dennis W., Petrucelli, Leonard
Published in Acta neuropathologica (01.12.2013)
Published in Acta neuropathologica (01.12.2013)
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Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes
Millecamps, Stéphanie, Boillée, Séverine, Le Ber, Isabelle, Seilhean, Danielle, Teyssou, Elisa, Giraudeau, Marine, Moigneu, Carine, Vandenberghe, Nadia, Danel-Brunaud, Véronique, Corcia, Philippe, Pradat, Pierre-François, Le Forestier, Nadine, Lacomblez, Lucette, Bruneteau, Gaelle, Camu, William, Brice, Alexis, Cazeneuve, Cécile, LeGuern, Eric, Meininger, Vincent, Salachas, François
Published in Journal of medical genetics (01.04.2012)
Published in Journal of medical genetics (01.04.2012)
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Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes
Cady, Janet, Allred, Peggy, Bali, Taha, Pestronk, Alan, Goate, Alison, Miller, Timothy M., Mitra, Robi D., Ravits, John, Harms, Matthew B., Baloh, Robert H.
Published in Annals of neurology (01.01.2015)
Published in Annals of neurology (01.01.2015)
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The impact of interrupted ATXN10 expansions on clinical findings of spinocerebellar ataxia type 10
Hasan, Ali, Furtado, Gabriel Vasata, Miglorini, Elaine, Mergener, Rafaella, Massuyama, Breno, Barsottini, Orlando, Pedroso, José Luiz, Teive, Helio G., Saraiva-Pereira, Maria Luiza, Ashizawa, Tetsuo, Jardim, Laura Bannach
Published in Journal of neurology (01.04.2025)
Published in Journal of neurology (01.04.2025)
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What is the Pathogenic CAG Expansion Length in Huntington’s Disease?
Donaldson, Jasmine, Powell, Sophie, Rickards, Nadia, Holmans, Peter, Jones, Lesley
Published in Journal of Huntington's disease (01.01.2021)
Published in Journal of Huntington's disease (01.01.2021)
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C9ORF72 expansion in a family with bipolar disorder
Meisler, Miriam H, Grant, Adrienne E, Jones, Julie M, Lenk, Guy M, He, Fang, Todd, Peter K, Kamali, Masoud, Albin, Roger L, Lieberman, Andrew P, Langenecker, Scott A, McInnis, Melvin G
Published in Bipolar disorders (01.05.2013)
Published in Bipolar disorders (01.05.2013)
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Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency
Buijsen, R.A.M., Visser, J.A., Kramer, P., Severijnen, E.A.W.F.M., Gearing, M., Charlet-Berguerand, N., Sherman, S.L., Berman, R.F., Willemsen, R., Hukema, R.K.
Published in Human reproduction (Oxford) (01.01.2016)
Published in Human reproduction (Oxford) (01.01.2016)
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A Systematic Review of the Huntington Disease-Like 2 Phenotype
Anderson, David G., Walker, Ruth H., Connor, Myles, Carr, Jonathan, Margolis, Russell L., Krause, Amanda
Published in Journal of Huntington's disease (01.01.2017)
Published in Journal of Huntington's disease (01.01.2017)
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F75 A huntington’s disease (HD) database at lirh foundation (LIRH-rome site): enroll-hd study as a starting point
Dema, Maria Giovanna, Borrelli, Cristiana, Migliore, Simone, Fusilli, Caterina, Maffi, Sabrina, Santimone, Iolanda, Gabriele, Maria, Belcastro, Loris, Barbara D’Alessio, Squitieri, Ferdinando
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2018)
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2018)
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Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I
JODICE, C, MALASPINA, P, PERSICHETTI, F, NOVELLETTO, A, SPADARO, M, GIUNTI, P, MOROCUTTI, C, TERRENATO, L, HARDING, A. E, FRONTALI, M
Published in American journal of human genetics (01.06.1994)
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Published in American journal of human genetics (01.06.1994)
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The search for cerebral biomarkers of Huntington's disease: a review of genetic models of age at onset prediction
Squitieri, F., Ciarmiello, A., Di Donato, S., Frati, L.
Published in European journal of neurology (01.04.2006)
Published in European journal of neurology (01.04.2006)
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Presymptomatic tests in Huntington's disease and dominant ataxias
Cannella, M., Simonelli, M., D'Alessio, C., Pierelli, F., Ruggieri, S., Squitieri, F.
Published in Neurological sciences (01.02.2001)
Published in Neurological sciences (01.02.2001)
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Analysis of triplet repeats in the huntingtin gene in Japanese families affected with Huntington's disease
Masuda, N, Goto, J, Murayama, N, Watanabe, M, Kondo, I, Kanazawa, I
Published in Journal of medical genetics (01.09.1995)
Published in Journal of medical genetics (01.09.1995)
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ALS and FTD linked GGGGCC-repeat containing DNA oligonucleotide folds into two distinct G-quadruplexes
Brčić, Jasna, Plavec, Janez
Published in Biochimica et biophysica acta. General subjects (01.05.2017)
Published in Biochimica et biophysica acta. General subjects (01.05.2017)
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Allele selective inhibition of mutant C9orf72 foci expression by duplex RNAS targeting the expanded hexanucleotide repeat
Year of Publication 21.01.2020
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Patent
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Prevalence of Incompletely Penetrant Huntington's Disease Alleles Among Individuals With Major Depressive Disorder
Perlis, Roy H, Smoller, Jordan W, Mysore, Jayalakshmi, Sun, Mei, Gillis, Tammy, Purcell, Shaun, Rietschel, Marcella, Nöthen, Markus M, Witt, Stephanie, Maier, Wolfgang, Iosifescu, Dan V, Sullivan, Patrick, Rush, A. John, Fava, Maurizio, Breiter, Hans, Macdonald, Marcy, Gusella, James
Published in American Journal of Psychiatry (01.05.2010)
Published in American Journal of Psychiatry (01.05.2010)
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DNA analysis of Huntington's disease in southern Chinese
Chan, V, Yu, Y L, Chan, T P, Yip, B, Chang, C M, Wong, M T, Chan, Y W, Chan, T K
Published in Journal of medical genetics (01.02.1995)
Published in Journal of medical genetics (01.02.1995)
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