Zobrazeno 1 - 5
of 5
pro vyhledávání: '"M. Cristina Bianchi"'
Autor:
Elena Moretti, M. Cristina Bianchi, M. Grazia Alessandrì, Vincenzo Leuzzi, Giovanni Ferretti, Anna Maria Chilosi, Giovanni Cioni, Alessandro Comparini, Roberta Battini, Manuela Casarano, Michela Tosetti
Publikováno v:
Neurocase. 14:151-161
Creatine transporter deficit (CT1) is an inherited metabolic disorder that causes mental retardation, epilepsy, speech, language and behavioral deficits. Until now, no treatment has been proven to be successful for this condition. We describe 1-year
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f27edb089a063c1e254354d55196ccb
https://doi.org/10.1080/13554790802060821
https://doi.org/10.1080/13554790802060821
Autor:
M. Grazia Alessandrì, Roberta Battini, Davide Mei, Michela Tosetti, Anna Maria Chilosi, Manuela Casarano, Vincenzo Leuzzi, Giovanni Ferretti, Giovanni Cioni, M. Cristina Bianchi
We report on a 9.5-year-old Italian boy affected by creatine transporter deficit (CT1), due to a de novo mutation in SLC6A8 gene. The patient was investigated by means of a comprehensive neuropsychological protocol and presented with an unusual alter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2896c90dcce970f806bc86afd356c2ec
http://hdl.handle.net/11573/121222
http://hdl.handle.net/11573/121222
Autor:
Roberta Battini, M. Cristina Bianchi, Michela Tosetti, Giovanni Cioni, Paolo Bonanni, Odile Boespflug-Tanguy, Raffaello Canapicchi
Publikováno v:
Archives of Neurology. 60:268
Background Pelizaeus-Merzbacher disease (PMD) and a complicated form of familial spastic paraparesis (spastic paraplegia 2 [SPG2]) are X-linked development disorders of myelin formation caused by a mutation in the proteolipid protein ( PLP ) gene. Sp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87d0a69662c60b00ed7f3b801595bb4e
https://doi.org/10.1001/archneur.60.2.268
https://doi.org/10.1001/archneur.60.2.268
Publikováno v:
Scopus-Elsevier
The introduction of magnetic resonance imaging (MRI) and magnetic resonance spectroscopy into clinical practice has permitted advances in the definition and categorization of unknown leukodystrophies in children. We report a new type of leukodystroph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40ffa39c8f425fc6e83e454c5d8c7862
http://www.scopus.com/inward/record.url?eid=2-s2.0-0036823478&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0036823478&partnerID=MN8TOARS
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