Sfoglia per Autore
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency
2010 L. Brun, L. Ngu, W. Keng, G. Ch'Ng, Y. Choy, W. Hwu, W. Lee, M. Willemsen, M. Verbeek, T. Wassenberg, L. Regal, S. Orcesi, D. Tonduti, P. Accorsi, H. Testard, J. Abdenur, S. Tay, G. Allen, S. Heales, I. Kern, M. Kato, A. Burlina, C. Manegold, G. Hoffmann, N. Blau
New Case of 4H Syndrome and a Review of the Literature
2010 S. Orcesi, D. Tonduti, C. Uggetti, D. Larizza, E. Fazzi, U. Balottin
CNS involvement in a cohort of pediatric patients affected with mitochondrial disorders caused by heterogeneous biochemical and genetic defects
2011 D. Ronchi, S. Orcesi, V. Spartà, A. Cosi, A. Bordoni, V. Lucchini, F. Fortunato, E. Fassone, D. Tonduti, G. Rulfi, M. Ranieri, M. Rizzuti, M. Ripolone, M. Sciacco, M. Moggio, S. Corti, S. Savata, A. Berardinelli, P. Veggiotti, G.P. Comi
Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G > A mitochondrial DNA mutation :aA case report
2011 D. Ronchi, A. Cosi, D. Tonduti, S. Orcesi, A. Bordoni, F. Fortunato, M. Rizzuti, M. Sciacco, M. Collotta, S. Cagdas, G. Capovilla, M. Moggio, A. Berardinelli, P. Veggiotti, G.P. Comi
Clinical and genetical heterogeneity in a cohort of pediatric patients affected with mitochondrial disorders
2011 M. Ranieri, D. Ronchi, S. Orcesi, V. Spartà, A. Cosi, A. Bordoni, V. Lucchini, F. Fortunato, E. Fassone, D. Tonduti, G. Rulfi, M. Rizzuti, M. Ripolone, M. Sciacco, M. Moggio, S. Corti, S. Savasta, A. Berardinelli, P. Veggiotti, G.P. Comi
Spinal cord calcification in an early-onset progressive leukoencephalopathy
2011 S. Orcesi, R. La Piana, C. Uggetti, D. Tonduti, A. Pichiecchio, M. Pasin, G. Viselner, G.P. Comi, R. Del Bo, D. Ronchi, S. Bastianello, U. Balottin
Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy
2011 M. Tétreault, K. Choquet, S. Orcesi, D. Tonduti, U. Balottin, M. Teichmann, S. Fribourg, R. Schiffmann, B. Brais, A. Vanderver, G. Bernard
COL4A1 mutations associated with a characteristic pattern of intracranial calcification
2011 J. Livingston, D. Doherty, S. Orcesi, D. Tonduti, A. Piechiecchio, R. La Piana, E. Tournier-Lasserve, A. Majumdar, S. Tomkins, G. Rice, R. Kneen, M. van der Knaap, Y. Crow
Neurotransmitter abnormalities and response to supplementation in SPG11
2012 A. Vanderver, D. Tonduti, S. Auerbach, J. Schmidt, S. Parikh, G. Gowans, K. Jackson, P. Brock, M. Patterson, M. Nehrebecky, R. Godfrey, W. Zein, W. Gahl, C. Toro
COL4A1-Related Disease: Raised Creatine Kinase and Cerebral Calcification as Useful Pointers
2012 D. Tonduti, A. Pichiecchio, R. La Piana, J. Livingston, D. Doherty, A. Majumdar, S. Tomkins, M. Mine, M. Ceroni, I. Ricca, U. Balottin, S. Orcesi
Calcifying leukoencephalopathies: new overlapping phenotypes
2012 S. Orcesi, D. Tonduti, R. La Piana
More Than Hypomyelination in Pol-III Disorder
2013 A. Vanderver, D. Tonduti, G. Bernard, J. Lai, C. Rossi, G. Carosso, M. Quezado, K. Wong, R. Schiffmann
Novel Hypomyelinating Leukoencephalopathy Affecting Early Myelinating Structures: Clinical Course in Two Brothers
2013 D. Tonduti, A. Pichiecchio, N. Wolf, G. Ariaudo, M. van der Knaap, S. Bastianello, U. Balottin, S. Orcesi
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum
2013 C. Simons, N. Wolf, N. Mcneil, L. Caldovic, J. Devaney, A. Takanohashi, J. Crawford, K. Ru, S. Grimmond, D. Miller, D. Tonduti, J. Schmidt, R. Chudnow, R. van Coster, L. Lagae, J. Kisler, J. Sperner, M. van der Knaap, R. Schiffmann, R. Taft, A. Vanderver
MCT8 deficiency: Extrapyramidal symptoms and delayed myelination as prominent features
2013 D. Tonduti, A. Vanderver, A. Berardinelli, J.L. Schmidt, C.D. Collins, F. Novara, A.D. Genni, A. Mita, F. Triulzi, J.E. Brunstrom-Hernandez, O. Zuffardi, U. Balottin, S. Orcesi
Dysregulation of the immune system in Aicardi-Goutieres syndrome: another example in a TREX1-mutated patient
2013 I. Olivieri, M. Cattalini, D. Tonduti, R. La Piana, C. Uggetti, J. Galli, A. Meini, A. Tincani, D. Moratto, E. Fazzi, U. Balottin, S. Orcesi
Bilateral Striatal Necrosis in Two Subjects With Aicardi-Goutieres Syndrome due to Mutations in ADAR1 (AGS6)
2014 R. La Piana, C. Uggetti, I. Olivieri, D. Tonduti, U. Balottin, E. Fazzi, S. Orcesi
Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies
2014 R. La Piana, D. Tonduti, H. Dressman, J. Schmidt, J. Murnick, B. Brais, G. Bernard, A. Vanderver.
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations
2014 A. Vanderver, D. Tonduti, I. Kahn, J. Schmidt, L. Medne, J. Vento, K. Chapman, B. Lanpher, P. Pearl, A. Gropman, C. Lourenco, J. Bamforth, C. Sharpe, M. Pineda, J. Schallner, O. Bodamer, S. Orcesi, S. Oberstein, E. Sistermans, H. Yntema, C. Bonnemann, A. Waldman, M. van der Knaap
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
2015 Y. Crow, D. Chase, J. Schmidt, M. Szynkiewicz, G. Forte, H. Gornall, A. Oojageer, B. Anderson, A. Pizzino, G. Helman, M. Abdel-Hamid, G. Abdel-Salam, S. Ackroyd, A. Aeby, G. Agosta, C. Albin, S. Allon-Shalev, M. Arellano, G. Ariaudo, V. Aswani, R. Babul-Hirji, E. Baildam, N. Bahi-Buisson, K. Bailey, C. Barnerias, M. Barth, R. Battini, M. Beresford, G. Bernard, M. Bianchi, T. de Villemeur, E. Blair, M. Bloom, A. Burlina, M. Carpanelli, D. Carvalho, M. Castro-Gago, A. Cavallini, C. Cereda, K. Chandler, D. Chitayat, A. Collins, C. Corcoles, N. Cordeiro, G. Crichiutti, L. Dabydeen, R. Dale, S. D'Arrigo, C. De Goede, C. De Laet, L. De Waele, I. Denzler, I. Desguerre, K. Devriendt, M. Di Rocco, M. Fahey, E. Fazzi, C. Ferrie, A. Figueiredo, B. Gener, C. Goizet, N. Gowrinathan, K. Gowrishankar, D. Hanrahan, B. Isidor, L. Kara, N. Khan, M. King, E. Kirk, R. Kumar, L. Lagae, P. Landrieu, H. Lauffer, V. Laugel, R. La Piana, M. Lim, J. Lin, T. Linnankivi, M. Mackay, D. Marom, C. Lourenco, S. Mckee, I. Moroni, J. Morton, M. Moutard, K. Murray, R. Nabbout, S. Nampoothiri, N. Nunez-Enamorado, P. Oades, I. Olivieri, J. Ostergaard, B. Perez-Duenas, J. Prendiville, V. Ramesh, M. Rasmussen, L. Regal, F. Ricci, M. Rio, D. Rodriguez, A. Roubertie, E. Salvatici, K. Segers, G. Sinha, D. Soler, R. Spiegel, T. Stodberg, R. Straussberg, K. Swoboda, M. Suri, U. Tacke, T. Tan, J. Naude, K. Teik, M. Thomas, M. Till, D. Tonduti, E. Valente, R. Van Coster, M. van der Knaap, G. Vassallo, R. Vijzelaar, J. Vogt, G. Wallace, E. Wassmer, H. Webb, W. Whitehouse, R. Whitney, M. Zaki, S. Zuberi, J. Livingston, F. Rozenberg, P. Lebon, A. Vanderver, S. Orcesi, G. Rice
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