Works matching DE "HUNTINGTON disease"


Results: 5000
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    Defining Parkinson's Disease: Past and Future.

    Published in:
    Journal of Parkinson's Disease, 2024, v. 14, p. S257, doi. 10.3233/JPD-230411
    By:
    • Kulcsarova, Kristina;
    • Skorvanek, Matej;
    • Postuma, Ronald B.;
    • Berg, Daniela
    Publication type:
    Article
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    Early Language Impairment as an Integral Part of the Cognitive Phenotype in Huntington's Disease.

    Published in:
    Annals of Clinical & Translational Neurology, 2025, v. 12, n. 6, p. 1201, doi. 10.1002/acn3.70022
    By:
    • Puig‐Davi, Arnau;
    • Franch‐Marti, Carla;
    • Ruiz‐Barrio, Iñigo;
    • Sampedro, Frederic;
    • Perez‐Perez, Jesus;
    • Matias‐Guiu, Jordi A.;
    • Cuetos, Fernando;
    • Olmedo‐Saura, Gonzalo;
    • Perez‐Carasol, Laura;
    • Horta‐Barba, Andrea;
    • Aracil‐Bolaños, Ignacio;
    • Pagonabarraga, Javier;
    • Kulisevsky, Jaime;
    • Martinez‐Horta, Saul
    Publication type:
    Article
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    Author Index Volume 24 (2025).

    Published in:
    Journal of Computational Biophysics & Chemistry, 2025, v. 24, n. 10, p. 1457, doi. 10.1142/S2737416525990017
    Publication type:
    Article
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    A Strategy Potentially Suitable for Combined Preimplantation Genetic Testing of Aneuploidy and Monogenic Disease That Permits Direct Detection of Pathogenic Variants Including Repeat Expansions and Gene Deletions †.

    Published in:
    International Journal of Molecular Sciences, 2025, v. 26, n. 10, p. 4532, doi. 10.3390/ijms26104532
    By:
    • Tan, Vivienne J.;
    • Liang, Ying;
    • Tan, Arnold S.;
    • Wong, Simin;
    • Asherah, Nur;
    • Chua, Pengyian;
    • Lee, Caroline G.;
    • Choolani, Mahesh A.;
    • Dang, Truong;
    • Chong, Samuel S.
    Publication type:
    Article
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    The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington’s disease.

    Published in:
    Neurogenetics, 2006, v. 7, n. 1, p. 27, doi. 10.1007/s10048-005-0023-z
    By:
    • Metzger, Silke;
    • Bauer, Peter;
    • Tomiuk, Juergen;
    • Laccone, Franco;
    • Didonato, Stefano;
    • Gellera, Cinzia;
    • Soliveri, Paola;
    • Lange, Herwig;
    • Weirich-Schwaiger, Helga;
    • Wenning, Gregor;
    • Melegh, Bela;
    • Havasi, Victoria;
    • Balikó, Lazlo;
    • Wieczorek, Stefan;
    • Arning, Larissa;
    • Zaremba, Jacek;
    • Sulek, Anna;
    • Hoffman-Zacharska, Dorota;
    • Basak, A.;
    • Ersoy, Nagehan
    Publication type:
    Article
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    Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16.

    Published in:
    Neurogenetics, 2004, v. 5, n. 2, p. 109, doi. 10.1007/s10048-004-0175-2
    By:
    • Djoussé, Luc;
    • Knowlton, Beth;
    • Hayden, Michael R.;
    • Almqvist, Elisabeth W.;
    • Brinkman, Ryan R.;
    • Ross, Christopher A.;
    • Margolis, Russel L.;
    • Rosenblatt, Adam;
    • Durr, Alexandra;
    • Dode, Catherine;
    • Morrison, Patrick J.;
    • Novelletto, Andrea;
    • Frontali, Marina;
    • Trent, Ronald J.A.;
    • McCusker, Elizabeth;
    • Gómez-Tortosa, Estrella;
    • Cabrero, David Mayo;
    • Jones, Randi;
    • Zanko, Andrea;
    • Nance, Martha
    Publication type:
    Article
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