Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Danilo DeFalco"'
Autor:
Alessandro Malandrini, Danilo DeFalco, Jean G.M. Huijmans, Silvia Palmeri, Giancarlo Guazzi, Chantal Ceuterick, Jean Jacques Martin, Alessandra Rufa, Otto P. van Diggelen, G Ciacci, Marcello Villanova
Publikováno v:
European Neurology, 43, 88-94. Karger
European neurology
European neurology
We report biochemical, morphological and neuroradiological findings in a 40-year-old woman affected with type I sialidosis. The clinical symptoms, consisting of a cerebellar syndrome, were first noted at the age of 17 years. The macular cherry-red sp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43277aed60dafa4b38e6ba6bd880798d
http://hdl.handle.net/11365/38022
http://hdl.handle.net/11365/38022
Autor:
Alessandro Malandrini, Danilo DeFalco, Michela Cappelli, Alessandra Renieri, Gaetano S. Grieco, Giancarlo Guazzi, Emma Parrotta, Lucia Galli, Marcello Villanova, Silvia Palmeri
Publikováno v:
European neurology. 40(3)
We report an Italian family in which molecular genetic analysis showed expansion of CAG repeats indicative of the SCA2 genotype. This family confirms that ataxia, ophthalmoparesis and sensory peripheral neuropathy are the salient features of the SCA2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f83f9a959e28195c0100a21ba6e175c7
https://pubmed.ncbi.nlm.nih.gov/9748675
https://pubmed.ncbi.nlm.nih.gov/9748675
Autor:
Alessandro Malandrini, Francesco Sicurelli, Emma Parrotta, Silvia Palmeri, Danilo DeFalco, Gian Carlo Guazzi, Daniela Amato, Marcello Villanova
Publikováno v:
Braindevelopment. 19(3)
We describe two brothers with an autosomal recessive syndrome characterized by neonatal onset, severe impairment of cognitive and motor functions, abnormal ocular movements and slight dystonic postures. Brain MR and CT scan showed a reduction in size
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96f538159b92a4f9e071c3ae6831de29
https://pubmed.ncbi.nlm.nih.gov/9134193
https://pubmed.ncbi.nlm.nih.gov/9134193
Autor:
Sergio Giani, Danilo DeFalco, Sergio Tripodi, Emma Parrotta, Gian Carlo Guazzi, Alessandro Malandrini, Marcello Villanova, C. Scarpini, Silvia Palmeri
We describe an Italian male patient, deceased at 29 years of age, affected with a syndrome characterized by childhood-onset seizures, mental disorders, motor dysfunction and bilateral palatal myoclonus. Skeletal X-ray examination showed diffuse osteo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddad3867c34302391ae2b90155ddb186
http://hdl.handle.net/11365/37688
http://hdl.handle.net/11365/37688