Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Joseph Giuliano"'
Autor:
Andrew E. Mulberg, Christina Bucci-Rechtweg, Joseph Giuliano, David Jacoby, Franklin K. Johnson, Qing Liu, Deborah Marsden, Scott McGoohan, Robert Nelson, Nita Patel, Klaus Romero, Vikram Sinha, Sheela Sitaraman, John Spaltro, Vivian Kessler
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
Abstract Rare or orphan diseases often are inherited and overwhelmingly affect children. Many of these diseases have no treatments, are incurable, and have a devastating impact on patients and their families. Regulatory standards for drug approval fo
Externí odkaz:
https://doaj.org/article/66e8a255f71a491c85332834df6a087b
Autor:
Staci Kallish, Giorgio Pietro Biondetti, John L. Jefferies, Patricio Aguiar, Matthew W. Nelson, Joseph Giuliano, Joseph W. Zabinski, Costas Boussios, Gary Curhan, Jigar N. Bandaria, Richard E. Gliklich, David G. Warnock
Publikováno v:
Molecular Genetics and Metabolism. 138:107175
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::07b3ce38ac80330eb9f68fec52e6c8d5
https://doi.org/10.1016/j.ymgme.2022.107175
https://doi.org/10.1016/j.ymgme.2022.107175
Autor:
Patricio Aguiar, Giorgio Pietro Biondetti, David G. Warnock, Staci Kallish, Matthew W. Nelson, Joseph Giuliano, Joseph W. Zabinski, Costas Boussios, Gary Curhan, Jigar N. Bandaria, Richard E. Gliklich, John L. Jefferies
Publikováno v:
Molecular Genetics and Metabolism. 138:106992
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cf05a18f0f5f00484de8a16c3655742c
https://doi.org/10.1016/j.ymgme.2022.106992
https://doi.org/10.1016/j.ymgme.2022.106992
Autor:
Peter Nordbeck, Ana Jovanovic, Antonio Pisani, Albina Nowak, Ulla Feldt-Rasmussen, Eva Brand, Derralynn Hughes, Daniel G. Bichet, Michael West, Kathleen Nicholls, Robert J. Hopkin, Roberto Giugliani, Juan Politei, Jasmine Rutecki, Joseph Giuliano, Eva Krusinska, Gere Sunder-Plassmann
Publikováno v:
Molecular Genetics and Metabolism. 135:S89-S90
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6f20d1d640e893baa9b67c063a4d5d8b
https://doi.org/10.1016/j.ymgme.2021.11.231
https://doi.org/10.1016/j.ymgme.2021.11.231
Autor:
Anthony L Vaccarino, null Anonymous, Karen E. Anderson, Beth Borowsky, Emil Coccaro, David Craufurd, Jean Endicott, Joseph Giuliano, Mark Groves, Mark Guttman, Aileen K Ho, Peter Kupchak, Jane S. Paulsen, Matthew S. Stanford, Daniel P van Kammen, David Watson, Kevin D Wu, Ken Evans
Publikováno v:
PLoS Currents
The Functional Rating Scale Taskforce for pre-Huntington Disease (FuRST-pHD) is a multinational, multidisciplinary initiative with the goal of developing a data-driven, comprehensive, psychometrically sound, rating scale for assessing symptoms and fu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67fec42684ece644130762dd49a9ac42
https://pubmed.ncbi.nlm.nih.gov/21826116
https://pubmed.ncbi.nlm.nih.gov/21826116
Autor:
Anthony L, Vaccarino, Karen, Anderson, Beth, Borowsky, Kevin, Duff, Joseph, Giuliano, Mark, Guttman, Aileen K, Ho, Michael, Orth, Jane S, Paulsen, Terrence, Sills, Daniel P, van Kammen, Kenneth R, Evans
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 26(5)
Although the Unified Huntington's Disease Rating Scale (UHDRS) is widely used in the assessment of Huntington disease (HD), the ability of individual items to discriminate individual differences in motor or behavioral manifestations has not been exte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d0981fab84b54a6a19e2d6ce713d5838
https://pubmed.ncbi.nlm.nih.gov/21370269
https://pubmed.ncbi.nlm.nih.gov/21370269