Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Mahulena Mojzisova"'
Autor:
Pavel Seeman, B. Petrak, Josef Zamecnik, Klara Pavlickova, Ludmila Hornofova, Lenka Mrazkova, Mahulena Mojzisova, Jaroslava Paulasová Schwabová, Marie Kaluzova, Petra Hedvicakova, Filip Fencl, Dana Safka Brozkova, Jana Haberlová, Marcela Krutova
Publikováno v:
Journal of Neurogenetics. 27:163-169
Pontocerebellar hypoplasia type 1 (PCH1) is characterized by cerebellar and anterior horn motor neuron degeneration and loss, signs of spinal muscular atrophy plus. Patients manifest severe perinatal weakness, hypotonia, and respiratory insufficiency
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::102b8c00dfbabf33c85b1ea610ec9ad9
https://doi.org/10.3109/01677063.2013.814651
https://doi.org/10.3109/01677063.2013.814651
