Luciano Merlini
Luciano Merlini
Istituto Ortopedico Rizzoli, Bologna, IT
Verified email at unife.it
TitleCited byYear
Guidelines for the use and interpretation of assays for monitoring autophagy
DJ Klionsky, FC Abdalla, H Abeliovich, RT Abraham, A Acevedo-Arozena, ...
Autophagy 8 (4), 445-544, 2012
4980*2012
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
G Bonne, MR Di Barletta, S Varnous, HM Bécane, EH Hammouda, ...
Nature genetics 21 (3), 285, 1999
12841999
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
DBV de Bernabé, S Currier, A Steinbrecher, J Celli, E van Beusekom, ...
The American Journal of Human Genetics 71 (5), 1033-1043, 2002
6802002
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C
G Novelli, A Muchir, F Sangiuolo, A Helbling-Leclerc, MR D’Apice, ...
The American Journal of Human Genetics 71 (2), 426-431, 2002
4942002
Clinical and molecular genetic spectrum of autosomal dominant Emery‐Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
G Bonne, E Mercuri, A Muchir, A Urtizberea, HM Becane, D Recan, ...
Annals of Neurology: Official Journal of the American Neurological …, 2000
4192000
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan
C Longman, M Brockington, S Torelli, C Jimenez-Mallebrera, C Kennedy, ...
Human molecular genetics 12 (21), 2853-2861, 2003
4092003
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy
MR Di Barletta, E Ricci, G Galluzzi, P Tonali, M Mora, L Morandi, ...
The American Journal of Human Genetics 66 (4), 1407-1412, 2000
4042000
Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency
WA Irwin, N Bergamin, P Sabatelli, C Reggiani, A Megighian, L Merlini, ...
Nature genetics 35 (4), 367, 2003
3992003
Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration
P Grumati, L Coletto, P Sabatelli, M Cescon, A Angelin, E Bertaggia, ...
Nature medicine 16 (11), 1313, 2010
3682010
POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome
J van Reeuwijk, M Janssen, C van den Elzen, DBV De Bernabé, ...
Journal of medical genetics 42 (12), 907-912, 2005
3632005
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome
C Windpassinger, M Auer-Grumbach, J Irobi, H Patel, E Petek, G Hörl, ...
Nature genetics 36 (3), 271, 2004
3132004
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome
B Moghadaszadeh, N Petit, C Jaillard, M Brockington, SQ Roy, L Merlini, ...
Nature genetics 29 (1), 17, 2001
2942001
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome
B Moghadaszadeh, N Petit, C Jaillard, M Brockington, SQ Roy, L Merlini, ...
Nature genetics 29 (1), 17, 2001
2942001
Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity
F Piccolo, SL Roberds, M Jeanpierre, F Leturcq, K Azibi, C Beldjord, ...
Nature genetics 10 (2), 243, 1995
2111995
Survival motor-neuron gene transcript analysis in muscles from spinal muscular-atrophy patients
M Gennarelli, M Lucarelli, F Capon, A Pizzuti, L Merlini, C Angelini, ...
Biochemical and biophysical research communications 213 (1), 342-348, 1995
1921995
Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies
L Merlini, A Angelin, T Tiepolo, P Braghetta, P Sabatelli, A Zamparelli, ...
Proceedings of the National Academy of Sciences 105 (13), 5225-5229, 2008
1812008
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins
A Angelin, T Tiepolo, P Sabatelli, P Grumati, N Bergamin, C Golfieri, ...
Proceedings of the National Academy of Sciences 104 (3), 991-996, 2007
1702007
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome
R Varon, R Gooding, C Steglich, L Marns, H Tang, D Angelicheva, ...
Nature genetics 35 (2), 185, 2003
1622003
A founder mutation in the γ-sarcoglycan gene of Gypsies possibly predating their migration out of India
F Piccolo, M Jeanpierre, F Leturcq, C Dode, K Azibi, A Toutain, L Merlini, ...
Human molecular genetics 5 (12), 2019-2022, 1996
1551996
Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy
E Demir, P Sabatelli, V Allamand, A Ferreiro, B Moghadaszadeh, ...
The American Journal of Human Genetics 70 (6), 1446-1458, 2002
1542002
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