Download 1 - EuroBioBank

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.