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pro vyhledávání: '"Lauren M. Cairns"'
Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation
Autor:
Gabriela Jones, Cheryl Stopford, Elisabeth Rosser, Katrina Merrifield, Henrietta Lefroy, Nicola S. Cooper, Lauren M Cairns, Sarah Buston, Andrew G L Douglas, Asma Hamad, Andrea H. Németh, Simon Holden, Julia Rankin, Vani Jain, Megan Rogers
Publikováno v:
Journal of Medical Genetics. 59:544-548
IntroductionMotor neuron disease (MND) and frontotemporal dementia (FTD) comprise a neurodegenerative disease spectrum. Genetic testing and counselling is complex in MND/FTD owing to incomplete penetrance, variable phenotype and variants of uncertain
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::290b526e3bb807a88ec11508af3f9fc0
https://doi.org/10.1136/jmedgenet-2021-107776
https://doi.org/10.1136/jmedgenet-2021-107776
Publikováno v:
European Journal of Medical Genetics. 66:104768
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8aaf9da1305c31b23e56a8de8c46a006
https://doi.org/10.1016/j.ejmg.2023.104768
https://doi.org/10.1016/j.ejmg.2023.104768