Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Anna, De Nicola"'
Autor:
Beatrice Guerra, Vanessa Guerri, Michele Zappella, Alessandra Renieri, Claudio De Felice, Sabrina Buoni, Raffaella Zannolli, Stefania Casali, J. Hayek, Barbara Pucci, Francesca Mari, Letizia Corbini, Anna De Nicola
Publikováno v:
Clinical Neurophysiology. 121:652-657
Objective To assess the presence/absence of peculiar EEG features and epilepsy in MECP2-mutated Rett patients with the Zappella–Rett variant (Z-RTT) also known as preserved speech variant. Methods Retrospective analysis of 16 (age 19.4±8.4years; r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36c9842b981cf16dd3dbd5c839c6c758
https://doi.org/10.1016/j.clinph.2010.01.003
https://doi.org/10.1016/j.clinph.2010.01.003
Autor:
Raffaella Zannolli, Francesco Chiarelli, Marco Liberati, Maria Concetta Varetti, Anna De Nicola, Francesco Ferrara, Alessandra Orsi, Silvia Funghini, Claudio De Felice, Sabrina Buoni, Maria Tassini, Mirella Strambi, Mario Messina, J. Hayek, Ron A. Wevers, Angelika Mohn, Cosimo Giannini, Gianni Betti, Antonio Vivi
Publikováno v:
NMR in Biomedicine. 23:353-358
Our aim was to compare urinary ethylmalonic acid (EMA) levels in subjects who had no apparent clinical reason to have increased levels of this substance but were suffering from non-specific CNS impairment, and healthy controls. Urinary EMA concentrat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::62a025852967ad39b8bc26616a1f5562
https://doi.org/10.1002/nbm.1468
https://doi.org/10.1002/nbm.1468
Autor:
Raffaella Zannolli, Antonio Vivi, Anna De Nicola, Eva Morava, Udo F. H. Engelke, Ron A. Wevers, Sabrina Buoni, J. Hayek, Maria Tassini, Lucia Monti, Mirella Strambi, Gajja S. Salomons, Gianni Valensin
Publikováno v:
Journal of Child Neurology, 25, 98-101
Journal of Child Neurology, 25(1), 98-101. SAGE Publications Inc.
Tassini, M, Zannolli, R, Buoni, S, Engelke, U, Vivi, A, Valensin, G, Salomons, G S, De Nicola, A, Strambi, M, Monti, L, Morava, E, Wevers, R A & Hayek, J 2010, ' [H-1] Magnetic Resonance Spectroscopy of Urine: Diagnosis of a Guanidinoacetate Methyl Transferase Deficiency Case ', Journal of Child Neurology, vol. 25, no. 1, pp. 98-101 . https://doi.org/10.1177/0883073809336120
Journal of Child Neurology, 25, 1, pp. 98-101
Journal of Child Neurology, 25(1), 98-101. SAGE Publications Inc.
Tassini, M, Zannolli, R, Buoni, S, Engelke, U, Vivi, A, Valensin, G, Salomons, G S, De Nicola, A, Strambi, M, Monti, L, Morava, E, Wevers, R A & Hayek, J 2010, ' [H-1] Magnetic Resonance Spectroscopy of Urine: Diagnosis of a Guanidinoacetate Methyl Transferase Deficiency Case ', Journal of Child Neurology, vol. 25, no. 1, pp. 98-101 . https://doi.org/10.1177/0883073809336120
Journal of Child Neurology, 25, 1, pp. 98-101
For the first time, the use of urine [1H] magnetic resonance spectroscopy has allowed the detection of 1 case of guanidinoacetate methyl transferase in a database sample of 1500 pediatric patients with a diagnosis of central nervous system impairment
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62eb41ba56f36307724a93b37b0ce6b4
https://doi.org/10.1177/0883073809336120
https://doi.org/10.1177/0883073809336120
Autor:
Raffaella, Zannolli, Sabrina, Buoni, Maria, Tassini, Anna, De Nicola, Gianni, Betti, Claudio, De Felice, Alessandra, Orsi, Maria Concetta, Varetti, Francesco, Ferrara, Mario, Messina, Cosimo, Giannini, Angelika, Mohn, Francesco, Chiarelli, Marco, Liberati, Mirella, Strambi, Silvia, Funghini, Antonio, Vivi, Ron A, Wevers, Joseph, Hayek
Publikováno v:
NMR in biomedicine. 23(4)
Our aim was to compare urinary ethylmalonic acid (EMA) levels in subjects who had no apparent clinical reason to have increased levels of this substance but were suffering from non-specific CNS impairment, and healthy controls. Urinary EMA concentrat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::01dc0f4e0708de3001656e9de5cb1396
https://pubmed.ncbi.nlm.nih.gov/20187168
https://pubmed.ncbi.nlm.nih.gov/20187168