Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Raffaella Zannolli"'
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
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
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
Autor:
J. Hayek, Monique J. B. M. Veendrick-Meekes, Maria Tassini, Raffaella Zannolli, Maaike de Vries, Appie Bilos, Gianni Valensin, Ron A. Wevers, Eva Morava, Udo F. H. Engelke, Leo A. J. Kluijtmans, Antonio Vivi, Wim Brussel, Sabrina Buoni, Berry Kremer, Gajja S. Salomons
Publikováno v:
Engelke, U F H, Tassini, M, Hayek, J, de Vries, M, Bilos, A, Vivi, A, Valensin, G, Buoni, S, Zannolli, R, Brussel, W, Kremer, B, Salomons, G S, Veendrick-Meekes, M J B M, Kluijtmans, L A J, Morava, E & Wevers, R A 2009, ' Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids ', NMR in Biomedicine, vol. 22, no. 5, pp. 538-544 . https://doi.org/10.1002/nbm.1367
NMR in Biomedicine, 22, 538-44
NMR in Biomedicine, 22(5), 538-544. John Wiley and Sons Ltd
NMR in Biomedicine, 22, 5, pp. 538-44
NMR in Biomedicine, 22, 538-44
NMR in Biomedicine, 22(5), 538-544. John Wiley and Sons Ltd
NMR in Biomedicine, 22, 5, pp. 538-44
In patients with guanidinoacetate methyltransferase (GAMT) deficiency several parameters may point towards the diagnosis of GAMT deficiency. These include the low levels of creatine and creatinine in urine, the high concentration of guanidinoacetic a
Autor:
F. Giordano, J. Hayek, L. Genitori, Clelia Miracco, Luca Burroni, L. Sardo, Francesca Macucci, F. Mussa, Raffaella Zannolli, Sabrina Buoni, Giovanni Di Pietro
Publikováno v:
Brain and Development. 30:53-58
To investigate the clinical picture, the neurophysiological pattern, and neuropathological features of a young woman with severe drug-resistant epilepsy of unknown cause. We used the patient’s clinical records from the age of 2 to 20 years includin
Publikováno v:
Brain & development, 29(1), 51-54. Elsevier
Peroxisomal disorders appear with a frequency of about 1:5000 in newborns. Peroxisomal D-bifunctional protein (D-BP), encoded by the HSD17B4 gene (gene ID: 3294; locus tag: HGNC:5213, chromosome 5q2; official symbol: HSD17B4; name: hydroxysteroid (17
Autor:
Paolo Galluzzi, M. Molinelli, F. Miracco, Palmino Sacco, Lucia Pucci, Raffaella Zannolli, Mauro Pierluigi, Walter Livi, Alberto Burlina, Paola Piomboni, Massimo Mogni, Clelia Miracco, Sabrina Buoni, Maria Margollicci, Maria Rosaria Massafra, Michele Zappella, Francesca Macucci, A. Cuccia, Maria Margherita De Santi, James A. Swift, Michele Fimiani
Publikováno v:
Brain and Development. 28:155-161
Global developmental delay is a serious social problem. It is often unrecognized and the phenotypes are inadequately studied. To investigate the phenotypes of children with aspecific central nervous system (CNS) impairment (poor speech, maladaptive b
Autor:
E. Arbustini, M. Grasso, Francesca Macucci, Raffaella Zannolli, Alberto Fois, Sabrina Buoni, S. Ansaldi
Publikováno v:
Annals of Human Genetics. 68:633-638
The R2726W mutation in the fibrillin 1 (FBN1, Marfan syndrome) gene segregates with isolated skeletal features of Marfan syndrome and/or high stature. Here we report a family in which two out of four individuals, an 18-year-old son and his mother, a
Autor:
P Terrosi Vagnoli, M L Carpentieri, Paolo Galluzzi, Raffaella Zannolli, R Giorgetti, Stefano Calvieri, Rosa Mostardini, M G Gatti, Guido Morgese
Publikováno v:
Pediatric Dermatology. 18:332-335
Cranioectodermal dysplasia is a rare syndrome characterized by craniofacial and skeletal anomalies and ectodermal dysplasia. Life-threatening associated conditions (i.e., kidney failure and abnormal regulation of the parathyroid-bone axis) can also d
Autor:
R. Perotti, Livio Sorrentino, Lucia Pucci, Raffaella Zannolli, Mauro Pierluigi, Guido Morgese, G. Zerega, T. Hadjistilianou, Brunella Franco, Alfonso D'Ambrosio, M. Guarna, Rosa Mostardini, M. Biagioli
Publikováno v:
American Journal of Medical Genetics. 102:29-35
We report on a 2-year-old girl with a de novo mutation [45,XX,der(5),t(5;14) (pter;q11.2)] with corpus callosum agenesis, multiple cysts (cerebral and cardiac), subtle eye abnormalities, and at least two different skin defects, strongly indicating ne