Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Patrizia Dassi"'
Autor:
Piero Pavone, Patrizia Dassi, Chiara Marra, Clara Malattia, Anna Fetta, Irene Bagnasco, Alberto Verrotti, Alessandro Orsini, Filippo Greco, Alice Bonuccelli, Salvatore Savasta, Stefano Sartori, Patrizia Bergonzini, Mariasole Magistrali, Bernadette Marrè Brunenghi, Daniele Marcotulli, Rita Consolini, Carlotta Canavese, Diego Peroni, Elisa De Grandis, Margherita Nosadini, Niccolò Carli, Gian Luigi Marseglia, Maurizio Viri, Thomas Foiadelli, Duccio Maria Cordelli, Francesco Nicita, Francesco Bassanese, Gabriele Simonini, Sabrina Siquilini, Francesca Marchese, Amanda Papa, Pasquale Striano, Alessandro Capuano, Sara Matricardi
Publikováno v:
European Journal of Paediatric Neurology. 36:1-6
Sydenham's Chorea (SC) is a neuropsychiatric disorder and a major manifestation of acute rheumatic fever. The erroneous assumption that SC is a benign and self-limiting disease, has led to a lack of high-quality scientific evidence of the therapeutic
Publikováno v:
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. 34(8)
To study the long-term neurocognitive changes of a right-handed girl with intractable epilepsy after late right hemispherectomy and compare them with data in the literature. The girl was affected by an epileptic encephalopathy associated with right f
Publikováno v:
Seizure. 56
Mutations in SCN8A gene have been described in relation to infantile onset epilepsy with movement disorders and developmental delay. Recently various authors have reported patients carrying autosomal dominant heterozygous SCN8A mutations and a milder
Publikováno v:
Neuromuscular Disorders. 18:962-966
LAMP2, the causative gene of Danon disease, located on chromosome Xq24, encodes the lysosome-associated membrane protein-2 (LAMP-2). We describe clinical features and molecular data in an Italian patient with Danon disease. The patient had hyperCKemi
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 13(1)
Merosin-deficient congenital muscular dystrophy (MD) type 1A (MDC1A) is one of the most frequent forms of CMD in Western countries. The classical form, characterized by a total lack of laminin α 2 chain expression, usually shows severe clinical feat
Autor:
Giovanni Battista Ferrero, Patrizia Dassi, Marco Spada, S. Ferraris, Margherita Silengo, Laura Jarre, Mariella Valenzise
In 8 out of 25 children with a mitochondrial disorder, slow growing, sparse and fragile hair was observed as an early sign of their disease. Microscopic examination of the hair showed the presence of trichorrhexis nodosa and pili torti. Hair abnormal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecd8ff6644a50e6e60edba32304543e1
http://hdl.handle.net/2318/40612
http://hdl.handle.net/2318/40612
Excess manganese (Mn) can cause several neurotoxic effects, however only a few studies have reported epileptic syndromes related to manganese intoxication. We describe an epileptic syndrome due to manganese intoxication in a 3 year old male child. Hi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74ee7ad07e04447ea9f8959867313cb8
http://hdl.handle.net/2318/37986
http://hdl.handle.net/2318/37986