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Neurology, ISSN 0028-3878, 03/2012, Volume 78, Issue 10, pp. 690 - 695
Objective: Age at onset of diagnostic motor manifestations in Huntington disease (HD) is strongly correlated with an expanded CAG trinucleotide repeat. The... 
HOMOZYGOSITY | ALLELE | OF-ONSET | GENE | LENGTH | MUTATION | CHROMOSOMES | CLINICAL NEUROLOGY | TRINUCLEOTIDE REPEAT | Humans | Age of Onset | Alleles | Huntington Disease - genetics | Adult | Female | Genotype | Huntington Disease - diagnosis | Male | Trinucleotide Repeat Expansion | 164
Journal Article
by Glasbey, James and Pool, Anne and Rawlings, Alexandra and Kuiper, Sara and Buchs, Nicolas and Bhangu, Aneel and El-Hussuna, Alaa and Bhangu, Aneel and Buchs, Nicolas C and Frasson, Matteo and Morton, Dion and Brown, Steven and Knowles, Charles and Bilali, S and Cillo, M and Farina, P and Bui, A and Smart, P and Herbst, F and Hartig, N and Lahodzich, N and Feryn, T and Maes, L and Van Langenhove, K and Nachtergaele, M and Monami, B and Pletinckx, P and Claeys, D and Dabic, S and Mehmedovic, Z and Christiano, A and Lombardi, B and Marchiori, M and Simonova, L and Pavlov, V and Todorov, G and Belev, N and Penkov, R and Ćosić, J and Vukušić, L and Zukanović, G and Dusek, T and Bencurik, V and Kala, Z and Grolich, T and Hoch, J and Martinek, L and El-Hussuna, A and Madsbøll, T and Straarup, D and Uth Ovesen, A and Michelsen Bach, S and Krarup, PM and Lykke, J and Lóven, H. H. K and Marckmann, M and Osterkamp, J. T. F and Worsøe, J and Youn Cho Lee, B and Khalid, A and El Sorogy, M and Elhemaly, M and Emile, S and Zuhdy, M and Rautio, T and Klintrup, K and Paarnio, K and Takala, H and Tomminen, T and Karvonen, J and Ghilles, E and Bresler, L and Didailler, R and Tiret, E and Chafai, N and Parc, Y and Bock, B and Baral, J and Möller, T and Schafmayer, C and Crescenti, F and Theodosopoulos, T and Vezakis, A and Stamou, K and Saridaki, A and Skroubis, G and Amanatidis, T and Germanos, S and Alexandrou, A and Korkolis, D. P and Manatakis, D and Mamaloudis, I and Tóth, I and Lakatos, M and Marton, J and Bursics, A and Papp, G and Valsdottir, E and Jonsson, T and Sigurdsson, H and ... and 2017 European Soc Coloproctology and 2017 European Society of Coloproctology (ESCP) Collaborating Group and The 2017 European Society of Coloproctology (ESCP) Collaborating Group
Colorectal Disease, ISSN 1462-8910, 09/2018, Volume 20, Issue S6, pp. 13 - 14
Journal Article
Biochemical Journal, ISSN 0264-6021, 07/2004, Volume 381, Issue 1, pp. 275 - 285
Substrates destined for degradation by the 26 S proteasome are labelled with polyubiquitin chains. Rpn11/Mpr1, situated in the lid subcomplex, partakes in the... 
Ubiquitin | Rpn11 | MPN (Mpr1, Pad1, N-terminal) domain | Mitochondria | Deubiquitination | Proteasome | REGULATORY PARTICLE | proteasome | METALLOPROTEASE | mitochondria | BIOCHEMISTRY & MOLECULAR BIOLOGY | TRANSCRIPTION | ubiquitin | DEUBIQUITINATING ENZYMES | 26 S PROTEASOME | GENE | MUTATION | DEGRADATION | deubiquitination | PROTEINS | Saccharomyces cerevisiae - genetics | Peptides - genetics | Ubiquitin - metabolism | Acetyltransferases - genetics | Carboxy-Lyases - genetics | Genetic Complementation Test | Mitochondria - ultrastructure | Acetyltransferases - physiology | Acetyltransferases - deficiency | Peptide Hydrolases - physiology | Carboxy-Lyases - physiology | Peptides - physiology | Catalytic Domain - genetics | Peptide Mapping - methods | Protein Structure, Tertiary - genetics | Endopeptidases - deficiency | Saccharomyces cerevisiae Proteins - genetics | Catalytic Domain - physiology | Proteasome Endopeptidase Complex - physiology | Peptide Hydrolases - chemistry | Saccharomyces cerevisiae - chemistry | Proteasome Endopeptidase Complex - genetics | Proteasome Endopeptidase Complex - deficiency | Phenotype | Endopeptidases - genetics | Saccharomyces cerevisiae Proteins - physiology | Mitochondria - physiology | Endopeptidases - physiology | Protein Structure, Tertiary - physiology | CP, core particle | GFP, green fluorescent protein | WT, wild-type | Mov34 | N-terminal | CHX, cycloheximide | RP, regulatory particle | CSN, COP9 signalosome | MPN | MMS, methyl methane sulphonate | Ub, ubiquitin | DAPI, 4,6-diamidino-2-phenylindole | MPN, Mpr1 | DASPMI, 2-(4-dimethylaminostyryl)-N-methylpyridinium iodide | Pad1 | JAMM, JAB1
Journal Article
by Sánchez‐Guillén, Luis and Nepogodiev, Dmitri and Minaya‐Bravo, Ana María and Pata, Francesco and Bhangu, Aneel and Buchs, Nicholas and Chaudri, Sanjay and Gallo, Gaetano and Morton, Dion and Singh, Baljit and Altomare, Donato and Knowles, Charles and Laurberg, Søren and Möeslein, Gabriela and Pinkney, Tom and Vaizey, Carolynne and Estefania, D and Patron Uriburu, J and Carballo, F and Guckenheimer, S and Proud, D and Brouwer, R and Birsan, T and Ghaffari, S and Hartig, N and Argeny, S and Unger, L and Varabei, A and Selniahina, L and Feryn, T and Leupe, T and Reynvoet, E and Nachtergaele, M and Francart, D and Jehaes, C and Markiewicz, S and Van Belle, K and Bomans, B and Cavenaile, V and Vertruyen, M and Vindevoghel, K and Todorovic, M and Kenjic, B and Lovric, S and Mehmedovic, Z and Dardanov, D and Yonkov, A and Sokolov, M and Batashki, I and Lozev, I and Moshev, B and Slavchev, M and Krstev, P and Previšić, A and Zelić, M and Maly, O and Bencurik, V and Procházka, V and Pruchova, V and Edling, P and Elfeki, H and Michelsen Bach, S and Marckman, M and Kjær, M. D and Kristensen, M. H and Elgeidie, A and Shalaby, M and Sakr, A and Thabet, W and Awny, S and Metwally, I and Refky, B and Lepistö, A and Kivelä, A and Siironen, P and Klintrup, K and Paarnio, K and Haukijärvi, E and Huhtinen, H and Carpelan, A and Karvonen, J and Francois, Y and d'Alessandro, A and Chouillard, E and Etienne, J. C and Rullier, E and Sielezneff, I and Barussaud, M and Krones, C and Pullig, F and Schön, M and Hinz, S and Richter, F and Soleiman, Y and Papaconstantinou, I and Gklavas, A and Nastos, K and Saridaki, A and Xynos, E and Paraskakis, S and ... and 2017 European Soc Coloproctology E and 2017 European Society of Coloproctology (ESCP) collaborating group and The 2017 European Society of Coloproctology (ESCP) collaborating group
Colorectal Disease, ISSN 1462-8910, 09/2018, Volume 20, Issue S6, pp. 47 - 57
Journal Article
by Lewis, C and Defoor, E and Steiner, S and Kelly, A and Oliver, S. G and Berben, G and Gigot, D and Shu, Y and Anwar, R and Fairhead, C and Ramezani Rad, M and Alexandraki, D and Galland, P and Francingues-Gaillard, M. C and Hoenicka, J and Glansdorff, N and Esteban, M and Brown, A. J. P and Tzermia, M and Dubois, E and Plevani, P and Steensma, H. Y and Wicksteed, B. L and Franco, L and Lutzenkirchen, K and Thierry, A and Yoshikawa, A and Aigle, M and Carignani, G and Iborra, F and Hatat, D and Wilson, C and Pallier, C and Carcano, C and Gent, M. E and Jauniaux, J. C and Contreras, R and Vetter, I and Lucchini, G and Kleinhans, U and Martegani, E and Stateva, L. I and Bolle, P. A and Muzi Falconi, M and Grenson, M and Hollenberg, C. P and McConnell, D and Slonimski, P. P and Philippsen, P and Agostoni-Carbone, M. L and Isono, K and von Wettstein, D and Faye, G and Mewes, H. W and Voet, M and Volckaert, G and Hilger, F and Doira, C and Schaaff-Gerstenschlager, I and Maat, M.J and Valle, G and Feldmann, H and Sanz, E and Chanet, R and Vreken, P and Jacq, C and Wang, H and Jia, Y and Roberts, A. B and McKee, R. A and Daignan-Fornier, B and Mannhaupet, G and Antoine, G and van Vliet-Reedijk, J. C and Hohmann, S and James, C. M and Indje, K. J and Mallet, L and Cederberg, H and Dujon, B and Spiegelberg, R and Purnelle, B and Lanfranchi, G and Planta, R. J and Raynal, A and Crouzet, M and Gilliquet, V and Maurer, C. T. C and de Haan, M and Goffeau, A and Poetsch, B and Scherens, B and Kreisl, P and Schweitzer, B and Sor, F and Biteau, N and Fuller, L. J and Bergantino, E and Perea, J and Pearson, B. M and ...
Nature, ISSN 0028-0836, 05/1992, Volume 357, Issue 6373, pp. 38 - 46
Journal Article