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LIST OF PUBLICATIONS 2007 ACKNOWLEDGING EUROBIOBANK Last updated 10th December 2007 LIST OF PUBLICATIONS 2007 ACKNOWLEDGING EUROBIOBANK 1. Barisic N., Jakic-Razumovic J., Harjacekc M., Fanin M.,Lochmüller H., Lehman I. and Angelini C. Childhood dermatomyositis associated with intracranial tumor and liver cysts. Eur J Paediatr Neurol. 2007 Mar;11(2):76-80. 2. Benayoun B., Baghdiguian S., Lajmanovich A., Bartoli M., Daniele N., Gicquel E., Bourg N., Raynaud F., Pasquier M-A., Suel L., Lochmüller H., Lefranc G., and Richard I. NF-_B-dependent expression of the antiapoptotic factor c-FLIP is regulated by calpain 3, the protein involved in limb-girdle muscular dystrophy type 2A. FASEB J. 2007 Dec 11; [Epub ahead of print] 3. Bersano A., Del Bo R., Lamperti C., Ghezzi S., Fagiolari G., Fortunato F., Ballabio E., Moggio M., Candelise L., Galimberti D., Virgilio R., Lanfranconi S., Torrente Y., Carpo M., Bresolin N., Comi G.P., Corti S. Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation. Neurobiol Aging. 2007 Sep 22; [Epub ahead of print] 4. Di Blasi C., van Alfen N., Colleoni F., ter Laak H., Mora M. Severe congenital muscular dystrophy in a LAMA2-mutated case. Pediat Neurol 2007; 37:212-214 5. Eisenberg I., Eran A., Nishino I., Moggio M., Lamperti C., Amatof A. A., Lidov H. G., Kang P.B., Northi K. N., Mitrani-Rosenbaum S., Flanigan K. M., Neelyl L. A., Whitneyl D., Beggs A. H., Kohanec I. S., and Kunkel L. M.. Distinctive patterns of microRNA expression in primary muscular disorders. Proc Natl Acad Sci U S A. 2007 Oct23;104(43):17016-21. 6. Fanin M., Nardetto L., Nascimbeni A.C., Tasca E., Spinazzi M., Padoan R., Angelini C. Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A. J Med Genet. 2007; 44:609-14. 7. Fanin M., Nascimbeni A.C., Angelini C. Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations. J Med Genet. 2007, Jan;44(1):38-43. 8. Guglieri M., Magri F., D’Angelo M.G., Prelle A., Morandi L., Rodolico C., Cagliani R., Mora M., Fortunato F., Bordoni A., Del Bo R., Ghezzi S., Pagliarani S., Lucchiari S., Salani S., Zecca C., Lamperti C., Ronchi D., Aguennouz M., Ciscato P., Di Blasi C., Ruggieri A., Moroni I., Turconi A., Moggio M., Toscano A., Bresolin N., P. Comi G.P. Clinical, molecular and protein correlations in a large sample of genetically diagnosed Limb Girdle Muscular Dystrophy patients. Hum Mutat. 2007 Nov 9;29(2):258-266 9. Janiesch P.C., Kim J., Mouysset J., Barikbin R., Lochmüller H., Cassata G., Krause S. and Hoppe T. The ubiquitin-selective chaperone CDC-48/p97 links myosin assembly to human myopathy. Nature Cell Biology 2007 Apr;9(4):379-90. 10. Krause S., Aleo A., Hinderlich S., Merlini L., Tournev I., Walter M. C., Argov Z., Mitrani-Rosenbaum S. and Lochmüller H. GNE protein expression and subcellular distribution are unaltered in HIBM. Neurology 2007 Aug 14;69(7):655-9. 11. Mayr J., Merkel O., Kohlwein S., Gebhardt B., Böhles H., Fötschl U., Koch J., Jaksch M., Lochmüller H., Horvath R., Freisinger P. and Sperl W. Mythochondrial phosphate-carrier deficiency: a novel disorder of oxydative phosphorylation. Am J Hum Genet. 2007 Mar;80(3):478-84. 12. Milic A., Daniele N., Lochmuller H., Mora M., Comi G.P, Moggio M., Noulet F., Walter M.C., Morandi L., Poupiot J., Roudaut C., Bittner R.E., Bartoli M., Richard I. A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay. Neuromuscul Disord. 2007 Feb;17(2):148-56. 13. Pegoraro E., Gavassini B.F., Borsato C., Melacini P., Vianello A., Stramare R., Cenacchi G., Angelini C. MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. Neuromuscul Disord. 2007 Apr;17(4):321-9. 14. Saccone V., Palmieri M., Passamano L., Piluso G., Meroni G., Politano L. and Nigro V. Mutations That Impair Interaction Properties of TRIM32 Associated With Limb-Girdle Muscular Dystrophy 2H. Hum Mutat. 2007 Nov 9;29(2):240-247 15. Torrente Y., Belicchi M., Marchesi C., Dantona G., Cogiamanian F., Pisati F., Gavina M., Giordano R., Tonlorenzi R., Fagiolari G., Lamperti C., Porretti L., Lopa R., Sampaolesi M., Vicentini L., Grimoldi N., Tiberio F., Songa V., Baratta P., Prelle A., Forzenigo L., Guglieri M., Pansarasa O., Rinaldi C., Mouly V., Butler-Browne G.S., Comi G.P., Biondetti P., Moggio M., Gaini S.M., Stocchetti N., Priori A., D'Angelo M.G., Turconi A., Bottinelli R., Cossu G., Rebulla P., Bresolin N. Autologous transplantation of muscle-derived CD133+ stem cells in Duchenne muscle patients. Cell Transplant. 2007 16(6):563-77. 16. Zanotti S., Saredi S., Ruggieri A., Fabbri M., Blasevich F., Romaggi S., Morandi L., Mora M. Altered extracellular matrix transcript expression and protein modulation in primary Duchenne muscular dystrophy myotubes. Matrix Biol. 2007 Oct;26(8):615-24.