Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Nadia Imbrigiotta"'
Autor:
Nadia Imbrigiotta
Publikováno v:
Euromediterranean Biomedical Journal, Vol 7, Iss 16, Pp 75-76 (2012)
An interstitial deletion of the region q23.3 of chromosome 14 is described in a young male patient with epilepsy, mental retardation, behavioural disorders and severe impairments in social interaction and communication. Interstitial deletions of th
Externí odkaz:
https://doaj.org/article/e8cb30696ae045ef8251f9cbac27a46e
Autor:
Federica Trucco, Tracey Davis, Renske I. Wadman, Lucia Schottlaender, Mariacristina Scoto, Chiara Brusa, Ramona De Amicis, Giovanni Baranello, Marion Main, Pinki Munot, Adnan Y. Manzur, Francesco Muntoni, Nadia Imbrigiotta, Anna Sarkozy, Simona Bertoli, Alberto Battezzati, Chiara Mastella
Publikováno v:
Neuromuscular Disorders. 31:101-112
Disease course of feeding difficulties in spinal muscular atrophy type 2 is not well documented. Disease-modifying therapies rapidly change the trajectory of motor function and survival in spinal muscular atrophy, but effects on co-morbidities like b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8178e029c5198cfa4fbd6ebf87de3528
https://doi.org/10.1016/j.nmd.2020.12.007
https://doi.org/10.1016/j.nmd.2020.12.007