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Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings. [electronic resource] by
- Trott, A
- Jardim, L B
- Ludwig, H T
- Saute, J A M
- Artigalás, O
- Kieling, C
- Wanderley, H Y C
- Rieder, C R M
- Monte, T L
- Socal, M
- Alonso, I
- Ferro, A
- Carvalho, T
- do Céu Moreira, M
- Mendonça, P
- Ferreirinha, F
- Silveira, I
- Sequeiros, J
- Giugliani, R
- Saraiva-Pereira, M L
Producer: 20061003
In:
Clinical genetics vol. 70
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146.
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Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins. [electronic resource] by
- Mori, Kohji
- Arzberger, Thomas
- Grässer, Friedrich A
- Gijselinck, Ilse
- May, Stephanie
- Rentzsch, Kristin
- Weng, Shih-Ming
- Schludi, Martin H
- van der Zee, Julie
- Cruts, Marc
- Van Broeckhoven, Christine
- Kremmer, Elisabeth
- Kretzschmar, Hans A
- Haass, Christian
- Edbauer, Dieter
Producer: 20140710
In:
Acta neuropathologica vol. 126
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149.
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Clinical spectrum of C9orf72 expansion in a cohort of Huntington's disease phenocopies. [electronic resource] by
- Martins, Joana
- Damásio, Joana
- Mendes, Alexandre
- Vila-Chã, Nuno
- Alves, José E
- Ramos, Cristina
- Cavaco, Sara
- Silva, João
- Alonso, Isabel
- Magalhães, Marina
Producer: 20180906
In:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology vol. 39
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Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. [electronic resource] by
- Ash, Peter E A
- Bieniek, Kevin F
- Gendron, Tania F
- Caulfield, Thomas
- Lin, Wen-Lang
- Dejesus-Hernandez, Mariely
- van Blitterswijk, Marka M
- Jansen-West, Karen
- Paul, Joseph W
- Rademakers, Rosa
- Boylan, Kevin B
- Dickson, Dennis W
- Petrucelli, Leonard
Producer: 20130416
In:
Neuron vol. 77
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156.
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A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease. [electronic resource] by
- Gami, Priya
- Murray, Christina
- Schottlaender, Lucia
- Bettencourt, Conceição
- De Pablo Fernandez, Eduardo
- Mudanohwo, Ese
- Mizielinska, Sarah
- Polke, James M
- Holton, Janice L
- Isaacs, Adrian M
- Houlden, Henry
- Revesz, Tamas
- Lashley, Tammaryn
Producer: 20160628
In:
Acta neuropathologica vol. 130
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157.
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Prevalence of [electronic resource] by
- Sokratous, Maria
- Lucia, Schottlaender
- Bourinaris, Thomas
- Marogianni, Chrysoula
- Arnaoutoglou, Marianthi
- Patrikiou, Eleni
- Ralli, Styliani
- Markou, Aikaterini
- Dardiotis, Efthimios
- Houlden, Henry
- Hadjigeorgiou, Georgios M
- Xiromerisiou, Georgia
Producer: 20210831
In:
Amyotrophic lateral sclerosis & frontotemporal degeneration vol. 21
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158.
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Conserved DNA methylation combined with differential frontal cortex and cerebellar expression distinguishes C9orf72-associated and sporadic ALS, and implicates SERPINA1 in disease. [electronic resource] by
- Ebbert, Mark T W
- Ross, Christian A
- Pregent, Luc J
- Lank, Rebecca J
- Zhang, Cheng
- Katzman, Rebecca B
- Jansen-West, Karen
- Song, Yuping
- da Rocha, Edroaldo Lummertz
- Palmucci, Carla
- Desaro, Pamela
- Robertson, Amelia E
- Caputo, Ana M
- Dickson, Dennis W
- Boylan, Kevin B
- Rademakers, Rosa
- Ordog, Tamas
- Li, Hu
- Belzil, Veronique V
Producer: 20180131
In:
Acta neuropathologica vol. 134
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