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Luciano Merlini
Luciano Merlini
Istituto Ortopedico Rizzoli, Bologna, IT
Verified email at unife.it
Title
Cited by
Cited by
Year
Guidelines for the use and interpretation of assays for monitoring autophagy
DJ Klionsky, K Abdelmohsen, A Abe, MJ Abedin, H Abeliovich, ...
Autophagy 12 (1), 1-222, 2016
13134*2016
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
G Bonne, MRD Barletta, S Varnous, HM Bécane, EH Hammouda, ...
Nature genetics 21 (3), 285-288, 1999
16331999
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
7912002
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
6402002
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), 367-371, 2003
5682003
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), 1313-1320, 2010
5612010
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
5592000
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
5112000
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
4902003
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
4622005
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), 271-276, 2004
4532004
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), 17-18, 2001
3912001
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
2512008
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), 243-245, 1995
2411995
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
2381995
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
2352007
Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1)
E Mercuri, B Talim, B Moghadaszadeh, N Petit, M Brockington, S Counsell, ...
Neuromuscular Disorders 12 (7-8), 631-638, 2002
2232002
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human
M Neri, S Torelli, S Brown, I Ugo, P Sabatelli, L Merlini, P Spitali, ...
Neuromuscular Disorders 17 (11-12), 913-918, 2007
2022007
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
2002002
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), 185-189, 2003
1912003
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