Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Robert, Hopkin"'
Autor:
Amelle Shillington, Lori White, Rachel Doberstein, Robert Hopkin, Katherine Harris, Katherine Zappia, Martine Lamy
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101245- (2024)
Externí odkaz:
https://doaj.org/article/b6379a13d4f147349ae0573e9b00592b
Autor:
Atteeq Rehman, Amanda Thomas-Wilson, Frederic Tran Mau-Them, Leandra Tolusso, Avinash Abyankar, Saurav Guha, Volkan Okur, Vanessa Felice, Robert Hopkin, Ashley Wilson, Ted Han, Qiaoning Guan, Jessica Giordano, Anne-Claire Bréhin, Ronald Wapner, Vaidehi Jobanputra
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101672- (2024)
Externí odkaz:
https://doaj.org/article/b54e5dd456704f24879c40fac9d912e1
Autor:
John Bernat, Eric Wallace, Ozlem Goker-Alpan, William Wilcox, Myrl Holida, Nicola Longo, Derralynn Hughes, Pilar Giraldo, Maria Molnar, Damara Ortiz, Robert Hopkin, Camilla Tondel, Ales Linhart, Patrick Deegan, Ana Jovanovic, Michael Muriello, Bruce Barshop, Virginia Kimonis, Bojan Vujkovac, Albina Nowak, Tarekegn Hiwot, Antonio Pisani, Dominique Germain, Ilkka Kantola, Jasmine Knoll, Ankit Mehta, Stephen Waldek, Einat Almon, Sari Alon, Raul Chertkoff, Rossana Rocco, David Warnock
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100015- (2023)
Externí odkaz:
https://doaj.org/article/343c76656a104fd8b64b93bc346cad1b
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100251- (2023)
Externí odkaz:
https://doaj.org/article/2b4cb45ba72b4bbca9e29f5dbff83d02
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100406- (2023)
Externí odkaz:
https://doaj.org/article/61062067074249279e1a1d01a7278536
Autor:
Amelle Shillington, Martine Lamy, Kelli C. Dominick, Michael Sorter, Craig A. Erickson, Robert Hopkin
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Neurodevelopmental disorders including autism spectrum disorder, intellectual disability, and global developmental delay are among the most common indications for referral to clinical genetics evaluation; and clinical genetic testing is indicated for
Externí odkaz:
https://doaj.org/article/e1e8a64ad67b418abb56429359fe59bf
Autor:
Amelle Shillington, Alonso Zea Vera, Tanya Perry, Robert Hopkin, Cameron Thomas, David Cooper, Kristen Suhrie
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
Abstract Background Defects in the RYR1 (OMIM#180901) gene lead to Ryanodine receptor type 1‐related myopathies (RYR1‐RM); the most common subgroup of congenital myopathies. Methods Congenital myopathy presents a diagnostic challenge due to the n
Externí odkaz:
https://doaj.org/article/591293b797094854879f0af6d396af3c
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 6, Pp n/a-n/a (2020)
Abstract Background Autism spectrum disorder (ASD) affects approximately one in 59 children. Variants in the activity‐dependent neuroprotector homeobox ADNP (OMIM #611386) gene may be one of the most common single‐gene causes of syndromic ASD. Mo
Externí odkaz:
https://doaj.org/article/f96aa0e445f44520a1d19796ecd17d0f
Publikováno v:
Radiology Case Reports, Vol 12, Iss 3, Pp 602-605 (2017)
The coexistence of band heterotopia and polymicrogyria is extremely rare though it has been reported in the presence of corpus callosum anomalies and megalencephaly. We present prenatal and postnatal MRI findings of a rare case of diffuse cortical ma
Externí odkaz:
https://doaj.org/article/af3f8d1b83a646408919e7cb637e435e
Autor:
Sheela Sitaraman, Richard Roxburgh, Kristina Gutschmidt, Ela Stefanescu, Drago Bratkovic, Thomas Burrow, Kornblum Cornelia, Kristl Claeys, Miriam Freimer, Ozlem Goker-Alpan, Srilakshmi Kuchipudi, Alan Pestronk, Wolfgang Löscher, Francoise Bouhour, Maria Judit Molnar, Ans T. van der Ploeg, Halina Bartosik-Psujek, Mitchell Goldman, Robert D. Henderson, Stephanie Dearmey, Colin Quinn, Paula R. Clemens, Priya S. Kishnani, Jennifer B Avelar, Nicola Longo, Shahram Attarian, Robert Hopkin, Tomo Sawada, Blaž Koritnik, George Konstantinos Papadimas, Hideaki Shiraishi, Christopher Lindberg, Jin-Hong Shin, Ivaylo Tarnev, Tahseen Mozaffar, Heather Lau, Michel Tchan, Jozsef Janszky, Tobias Ruck, Sabrina Sacconi, Benedikt Schoser, Hashiguchi Akihiro, Patrick Deegan, Ernest Butler, Nuria Vidal-Fernandez, Antonio Toscano, Tarekegn Hiwot, Gee Kim, Emmanuelle Salort-Campana, Jeff Castelli, Pascal Laforet, Céline Tard, Crystal Eldridge, Aneal Khan, Stephan Wenninger, Simona Fecarotta, Jordi Díaz-Manera, Jorge Alonso-Pérez, Yin-Hsiu Chien, Mark Tarnopolsky, Olimpia Musumeci, Hiroshi Kobayashi, Helio Pedro, Jonathan Cauci, Agnes Sebok, Cynthia Bodkin, Hai Jiang, Julie Berthy, Vescei Laszlo, Derralynn Hughes, David Reyes-Leiva, Aleksandra Dominovic-Kovacevic, Mazen M. Dimachkie, Hernan Amartino, Hani Kushlaf, Barry J. Byrne, Giancarlo Parenti, Henning Andersen, Mark Roberts, Marie Wencel, Jaime Vengoechea
Publikováno v:
LANCET NEUROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
The Lancet Neurology, 20(12), 1027-1037. Lancet Publishing Group
PROPEL Study Group 2021, ' Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL) : an international, randomised, double-blind, parallel-group, phase 3 trial ', The Lancet Neurology, vol. 20, no. 12, pp. 1027-1037 . https://doi.org/10.1016/S1474-4422(21)00331-8
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
The Lancet Neurology, 20(12), 1027-1037. Lancet Publishing Group
PROPEL Study Group 2021, ' Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL) : an international, randomised, double-blind, parallel-group, phase 3 trial ', The Lancet Neurology, vol. 20, no. 12, pp. 1027-1037 . https://doi.org/10.1016/S1474-4422(21)00331-8
Summary Background Pompe disease is a rare disorder characterised by progressive loss of muscle and respiratory function due to acid α-glucosidase deficiency. Enzyme replacement therapy with recombinant human acid α-glucosidase, alglucosidase alfa,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ca8d17d8a65ecd5fd078c358714459b
https://doi.org/10.1016/s1474-4422(21)00331-8
https://doi.org/10.1016/s1474-4422(21)00331-8