Sfoglia per Tipologia Article (author)
Mutational spectrum of the oral-facial-digital type I syndrome : a study on a large collection of patients
2008 C. Prattichizzo, M. Macca, V. Novelli, G. Giorgio, A. Barra, B. Franco
Mutations and novel polymorphisms in coding regions and UTRs of CDK5R1 and OMG genes in patients with nonsyndromic mental retardation
2006 M. Venturin, S. Moncini, V. Villa, S. Russo, M.T. Bonati, L. Larizza, P.V. Riva
Mutations associated with hypokalemic periodic paralysis : from hotspot regions to complete analysis of CACNA1S and SCN4A genes
2021 R. Brugnoni, E. Canioni, M. Filosto, A. Pini, P. Tonin, T. Rossi, C. Canavese, M. Eoli, G. Siciliano, G. Lauria, R. Mantegazza, L. Maggi
Mutations causing low level antibiotic resistance ensure bacterial survival in antibiotic-treated hosts
2018 J. Frimodt-Moller, E. Rossi, J.A.J. Haagensen, M. Falcone, S. Molin, H.K. Johansen
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency
2014 L. Melchionda, T.B. Haack, S. Hardy, T.E.M. Abbink, E. Fernandez Vizarra, E. Lamantea, S. Marchet, L. Morandi, M. Moggio, R. Carrozzo, A. Torraco, D. Diodato, T.M. Strom, T. Meitinger, P. Tekturk, Z. Yapici, F. Al Murshedi, R. Stevens, R.J. Rodenburg, C. Lamperti, A. Ardissone, I. Moroni, G. Uziel, H. Prokisch, R.W. Taylor, E. Bertini, M.S. Van Der Knaap, D. Ghezzi, M. Zeviani
Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes
2017 I. Parenti, M.E. Teresa Rodrigo, J. Pozojevic, S. Ruiz Gil, I. Bader, D. Braunholz, N.C. Bramswig, C. Gervasini, L. Larizza, L. Pfeiffer, F. Ozkinay, F. Ramos, B. Reiz, O. Rittinger, T.M. Strom, E. Watrin, K. Wendt, D. Wieczorek, B. Wollnik, C. Baquero Montoya, J. Pié, M.A. Deardorff, G. Gillessen Kaesbach, F.J. Kaiser
Mutations in coagulation factors in women with unexplained late fetal loss
2000 I. Martinelli, E. Taioli, I. Cetin, A. Marinoni, S. Gerosa, M. V. Villa, M. Bozzo, P. M. Mannucci
Mutations in conserved yeast DNA primase domains impair DNA replication in vivo
1991 S. Francesconi, M.P. Longhese, A. Piseri, C. Santocanale, G. Lucchini, P. Plevani
Mutations in CREBBP and EP300 genes affect DNA repair of oxidative damage in Rubinstein-Taybi syndrome cells
2020 I. Dutto, C. Scalera, M. Tillhon, G. Ticli, G. Passaniti, O. Cazzalini, M. Savio, L.A. Stivala, C. Gervasini, L. Larizza, E. Prosperi
Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis
2014 A. Citterio, A. Arnoldi, E. Panzeri, M.G. D'Angelo, M. Filosto, R. Dilena, F. Arrigoni, M. Castelli, C. Maghini, C. Germiniasi, F. Menni, A. Martinuzzi, N. Bresolin, M.T. Bassi
Mutations in disguise
2011 S. Duga, R. Asselta
Mutations in DNA2 cause progressive myopathy with mtDNA instability
2013 M. Ranieri, D. Ronchi, A. Di Fonzo, W. Lin, A. Bordoni, C. Liu, E. Fassone, S. Pagliarani, M. Rizzuti, L. Zheng, M. Filosto, M.T. Ferro, F. Magri, L. Peverelli, H. Li, Y.C. Yuan, S. Corti, M. Sciacco, M. Moggio, N. Bresolin, B. Shen, G.P. Comi
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability
2013 D. Ronchi, A. Di Fonzo, W. Lin, A. Bordoni, C. Liu, E. Fassone, S. Pagliarani, M. Rizzuti, L. Zheng, M. Filosto, M.T. Ferrò, M. Ranieri, F. Magri, L. Peverelli, H. Li, Y. Yuan, S. Corti, M. Sciacco, M. Moggio, N. Bresolin, B. Shen, G.P. Comi
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability
2013 D. Ronchi, A. Di Fonzo, A. Bordoni, S. Pagliarani, M. Rizzuti, V. Melzi, G. Tiri, M. Filosto, M.T. Ferrò, L. Peverelli, I.G. Vetrano, D. Spagnoli, S. Corti, M. Sciacco, M. Moggio, N. Bresolin, B. Shen, G.P. Comi
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism
2017 J. J Reynolds, L. S Bicknell, P. Carroll, M. R Higgs, R. Shaheen, J. E Murray, D. K Papadopoulos, A. Leitch, O. Murina, Ž. Tarnauskaitė, S. R Wessel, A. Zlatanou, A. Vernet, A. von Kriegsheim, R. MA Mottram, C.V. Logan, H. Bye, Y. Li, A. Brean, S. Maddirevula, R. C Challis, K. Skouloudaki, A. Almoisheer, H. S Alsaif, A. Amar, N. J Prescott, M. B Bober, A. Duker, E. Faqeih, M. Zain Seidahmed, S. Al Tala, A. Alswaid, S. Ahmed, J. Yousuf Al-Aama, J. Altmüller, M. Al Balwi, A. F Brady, L. Chessa, H. Cox, R. Fischetto, R. Heller, B. D Henderson, E. Hobson, P. Nürnberg, E. Ferda Percin, A. Peron, L. Spaccini, A. J Quigley, S. Thakur, C. A Wise, G. Yoon, M. Alnemer, P. Tomancak, G. Yigit, A.M. R Taylor, M. A M Reijns, M. A Simpson, D. Cortez, F. S Alkuraya, C. G Mathew, A. P Jackson, G. S Stewart
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing
2019 M. Saoura, C.A. Powell, R. Kopajtich, A. Alahmad, H.H. Al-Balool, B. Albash, M. Alfadhel, C.L. Alston, E. Bertini, P. Bonnen, D. Bratkovic, R. Carrozzo, M.A. Donati, M.D. Nottia, D. Ghezzi, A. Goldstein, E. Haan, R. Horvath, J. Hughes, F. Invernizzi, E. Lamantea, B. Lucas, K. Pinnock, M. Pujantell, S. Rahman, P. Rebelo-Guiomar, S. Santra, D. Verrigni, R. Mcfarland, H. Prokisch, R.W. Taylor, L. Levinger, M. Minczuk
Mutations in encephalomyocarditis virus 3A protein uncouple the dependency of genome replication on host factors phosphatidylinositol 4-kinase IIIα and oxysterol-binding protein
2016 C.M. Dorobantu, L. Albulescu, H. Lyoo, M. van Kampen, R. De Francesco, V. Lohmann, C. Harak, H.M. van der Schaar, J.R.P.M. Strating, A.E. Gorbaleny, F.J.M. van Kuppeveld
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy
2013 X. Gai, D. Ghezzi, M.A. Johnson, C.A. Biagosch, H.E. Shamseldin, T.B. Haack, A. Reyes, M. Tsukikawa, C.A. Sheldon, S. Srinivasan, M. Gorza, L.S. Kremer, T. Wieland, T.M. Strom, E. Polyak, E. Place, M. Consugar, J. Ostrovsky, S. Vidoni, A.J. Robinson, L. Wong, N. Sondheimer, M.A. Salih, E. Al-Jishi, C.P. Raab, C. Bean, F. Furlan, R. Parini, C. Lamperti, J.A. Mayr, V. Konstantopoulou, M. Huemer, E.A. Pierce, T. Meitinger, P. Freisinger, W. Sperl, H. Prokisch, F.S. Alkuraya, M.J. Falk, M. Zeviani
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy
2014 R. Kopajtich, T.J. Nicholls, J. Rorbach, M.D. Metodiev, P. Freisinger, H. Mandel, A. Vanlander, D. Ghezzi, R. Carrozzo, R.W. Taylor, K. Marquard, K. Murayama, T. Wieland, T. Schwarzmayr, J.A. Mayr, S.F. Pearce, C.A. Powell, A. Saada, A. Ohtake, F. Invernizzi, E. Lamantea, E.W. Sommerville, A. Pyle, P.F. Chinnery, E. Crushell, Y. Okazaki, M. Kohda, Y. Kishita, Y. Tokuzawa, Z. Assouline, M. Rio, F. Feillet, B. Mousson De Camaret, D. Chretien, A. Munnich, B. Menten, T. Sante, J. Smet, L. Rã©gal, A. Lorber, A. Khoury, M. Zeviani, T.M. Strom, T. Meitinger, E.S. Bertini, R. Van Coster, T. Klopstock, A. Rőtig, T.B. Haack, M. Minczuk, H. Prokisch
Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features
2002 S. Kalachikov, O. Evgrafov, B. Ross, M. Winawer, C. Barker-Cummings, F.M. Boneschi, C. Choi, P. Morozov, K. Das, E. Teplitskaya, Y. Andrew, E. Cayanis, G. Penchaszadeh, A.H. Kottmann, T.A. Pedley, W.A. Hauser, R. Ottman, T.C. Gilliam
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