-
1
-
-
79954517898
-
The collagen VI-related myopathies. Ullrich congenital muscular dystrophy and Bethlem myopathy
-
2-s2.0-79954517898 10.1016/B978-0-08-045031-5.00005-0
-
Bönnemann C. G., The collagen VI-related myopathies. Ullrich congenital muscular dystrophy and Bethlem myopathy. Handbook of Clinical Neurology 2011 101 81 96 2-s2.0-79954517898 10.1016/B978-0-08-045031-5.00005-0
-
(2011)
Handbook of Clinical Neurology
, vol.101
, pp. 81-96
-
-
Bönnemann, C.G.1
-
2
-
-
0037176883
-
Novel mutations in collagen VI genes: Expansion of the Bethlem myopathy phenotype
-
Scacheri P. C., Gillanders E. M., Subramony S. H., Vedanarayanan V., Crowe C. A., Thakore N., Bingler M., Hoffman E. P., Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. Neurology 2002 58 4 593 602 2-s2.0-0037176883 (Pubitemid 34164942)
-
(2002)
Neurology
, vol.58
, Issue.4
, pp. 593-602
-
-
Scacheri, P.C.1
Gillanders, E.M.2
Subramony, S.H.3
Vedanarayanan, V.4
Crowe, C.A.5
Thakore, N.6
Bingler, M.7
Hoffman, E.P.8
-
3
-
-
53049102499
-
Autosomal recessive myosclerosis myopathy is a collagen VI disorder
-
2-s2.0-53049102499 10.1212/01.wnl.0000327611.01687.5e
-
Merlini L., Martoni E., Grumati P., Sabatelli P., Squarzoni S., Urciuolo A., Ferlini A., Gualandi F., Bonaldo P., Autosomal recessive myosclerosis myopathy is a collagen VI disorder. Neurology 2008 71 16 1245 1253 2-s2.0-53049102499 10.1212/01.wnl.0000327611.01687.5e
-
(2008)
Neurology
, vol.71
, Issue.16
, pp. 1245-1253
-
-
Merlini, L.1
Martoni, E.2
Grumati, P.3
Sabatelli, P.4
Squarzoni, S.5
Urciuolo, A.6
Ferlini, A.7
Gualandi, F.8
Bonaldo, P.9
-
4
-
-
0017259099
-
Benign myopathy, with autosomal dominant inheritance: A report on three pedigrees
-
2-s2.0-0017259099
-
Bethlem J., Van Wijngaarden G. K., Benign myopathy, with autosomal dominant inheritance: a report on three pedigrees. Brain 1976 99 1 91 100 2-s2.0-0017259099
-
(1976)
Brain
, vol.99
, Issue.1
, pp. 91-100
-
-
Bethlem, J.1
Van Wijngaarden, G.K.2
-
5
-
-
0345196592
-
Bethlem myopathy: A slowly progressive congenital muscular dystrophy with contractures
-
DOI 10.1093/brain/122.4.649
-
Jöbsis G. J., Boers J. M., Barth P. G., De Visser M., Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures. Brain 1999 122 part 4 649 655 2-s2.0-0345196592 10.1093/brain/122.4.649 (Pubitemid 29158773)
-
(1999)
Brain
, vol.122
, Issue.4
, pp. 649-655
-
-
Jobsis, G.J.1
Boers, J.M.2
Barth, P.G.3
De Visser, M.4
-
6
-
-
0028018998
-
Bethlem myopathy: Early-onset benign autosomal dominant myopathy with contractures. Description of two new families
-
DOI 10.1016/0960-8966(94)90091-4
-
Merlini L., Morandi L., Granata C., Ballestrazzi A., Bethlem myopathy: early-onset benign autosomal dominant myopathy with contractures. Description of two new families. Neuromuscular Disorders 1994 4 5-6 503 511 2-s2.0-0028018998 10.1016/0960-8966(94)90091-4 (Pubitemid 24331539)
-
(1994)
Neuromuscular Disorders
, vol.4
, Issue.5-6
, pp. 503-511
-
-
Merlini, L.1
Morandi, L.2
Granata, C.3
Ballestrazzi, A.4
-
7
-
-
0036895072
-
Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, 23-24 November 2001, Naarden, NLD
-
DOI 10.1016/S0960-8966(02)00139-6, PII S0960896602001396
-
Pepe G., Bertini E., Bonaldo P., Bushby K., Giusti B., De Visser M., Guicheney P., Lattanzi G., Merlini L., Muntoni F., Nishino I., Nonaka I., Yaou R. B., Sabatelli P., Sewry C., Topaloglu H., Van der Kooi A., Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, 23-24 November 2001, Naarden, The Netherlands. Neuromuscular Disorders 2002 12 10 984 993 2-s2.0-0036895072 10.1016/S0960-8966(02)00139-6 (Pubitemid 35408680)
-
(2002)
Neuromuscular Disorders
, vol.12
, Issue.10
, pp. 984-993
-
-
Pepe, G.1
Bertini, E.2
Bonaldo, P.3
Bushby, K.4
Giusti, B.5
De Visser, M.6
Guicheney, P.7
Lattanzi, G.8
Merlini, L.9
Muntoni, F.10
Nishino, I.11
Nonaka, I.12
Yaou, R.B.13
Sabatelli, P.14
Sewry, C.15
Topaloglu, H.16
Van Der Kooi, A.17
-
8
-
-
33751008058
-
Cardiac and pulmonary investigations in Bethlem myopathy
-
DOI 10.1001/archneur.63.11.1617
-
Van Der Kooi A. J., De Voogt W. G., Bertini E., Merlini L., Talim F. B., Yaou R. B., Urtziberea A., De Visser M., Cardiac and pulmonary investigations in Bethlem myopathy. Archives of Neurology 2006 63 11 1617 1621 2-s2.0-33751008058 10.1001/archneur.63.11.1617 (Pubitemid 44748806)
-
(2006)
Archives of Neurology
, vol.63
, Issue.11
, pp. 1617-1621
-
-
Van Der Kooi, A.J.1
De Voogt, W.G.2
Bertini, E.3
Merlini, L.4
Talim, F.B.5
Yaou, R.B.6
Urtziberea, A.7
De Visser, M.8
-
9
-
-
68249154901
-
Natural history of Ullrich congenital muscular dystrophy
-
2-s2.0-68249154901 10.1212/WNL.0b013e3181aae851
-
Nadeau A., Kinali M., Main M., Jimenez-Mallebrera C., Aloysius A., Clement E., North B., Manzur A. Y., Robb S. A., Mercuri E., Muntoni F., Natural history of Ullrich congenital muscular dystrophy. Neurology 2009 73 1 25 31 2-s2.0-68249154901 10.1212/WNL.0b013e3181aae851
-
(2009)
Neurology
, vol.73
, Issue.1
, pp. 25-31
-
-
Nadeau, A.1
Kinali, M.2
Main, M.3
Jimenez-Mallebrera, C.4
Aloysius, A.5
Clement, E.6
North, B.7
Manzur, A.Y.8
Robb, S.A.9
Mercuri, E.10
Muntoni, F.11
-
10
-
-
78149474863
-
Early onset collagen VI myopathies: Genetic and clinical correlations
-
2-s2.0-78149474863 10.1002/ana.22087
-
Briñas L., Richard P., Quijano-Roy S., Gartioux C., Ledeuil C., Lacène E., Makri S., Ferreiro A., Maugenre S., Topaloglu H., Haliloglu G., Pénisson-Besnier I., Jeannet P.-Y., Merlini L., Navarro C., Toutain A., Chaigne D., Desguerre I., De Die-Smulders C., Dunand M., Echenne B., Eymard B., Kuntzer T., Maincent K., Mayer M., Plessis G., Rivier F., Roelens F., Stojkovic T., Lía Taratuto A., Lubieniecki F., Monges S., Tranchant C., Viollet L., Romero N. B., Estournet B., Guicheney P., Allamand V., Early onset collagen VI myopathies: genetic and clinical correlations. Annals of Neurology 2010 68 4 511 520 2-s2.0-78149474863 10.1002/ana.22087
-
(2010)
Annals of Neurology
, vol.68
, Issue.4
, pp. 511-520
-
-
Briñas, L.1
Richard, P.2
Quijano-Roy, S.3
Gartioux, C.4
Ledeuil, C.5
Lacène, E.6
Makri, S.7
Ferreiro, A.8
Maugenre, S.9
Topaloglu, H.10
Haliloglu, G.11
Pénisson-Besnier, I.12
Jeannet, P.-Y.13
Merlini, L.14
Navarro, C.15
Toutain, A.16
Chaigne, D.17
Desguerre, I.18
De Die-Smulders, C.19
Dunand, M.20
Echenne, B.21
Eymard, B.22
Kuntzer, T.23
Maincent, K.24
Mayer, M.25
Plessis, G.26
Rivier, F.27
Roelens, F.28
Stojkovic, T.29
Lía Taratuto, A.30
Lubieniecki, F.31
Monges, S.32
Tranchant, C.33
Viollet, L.34
Romero, N.B.35
Estournet, B.36
Guicheney, P.37
Allamand, V.38
more..
-
11
-
-
84881551289
-
Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy
-
Yonekawa T., Komaki H., Okada M., Hayashi Y. K., Nonaka I., Sugai K., Sasaki M., Nishino: I., Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy. Journal of Neurology, Neurosurgery & Psychiatry 2013 84 9 982 988
-
(2013)
Journal of Neurology, Neurosurgery & Psychiatry
, vol.84
, Issue.9
, pp. 982-988
-
-
Yonekawa, T.1
Komaki, H.2
Okada, M.3
Hayashi, Y.K.4
Nonaka, I.5
Sugai, K.6
Sasaki, M.7
Nishino, I.8
-
13
-
-
53049098469
-
Therapy of collagen VI-related myopathies (Bethlem and Ullrich)
-
2-s2.0-53049098469 10.1016/j.nurt.2008.08.004
-
Merlini L., Bernardi P., Therapy of collagen VI-related myopathies (Bethlem and Ullrich). Neurotherapeutics 2008 5 4 613 618 2-s2.0-53049098469 10.1016/j.nurt.2008.08.004
-
(2008)
Neurotherapeutics
, vol.5
, Issue.4
, pp. 613-618
-
-
Merlini, L.1
Bernardi, P.2
-
14
-
-
70350690312
-
Prevalence of genetic muscle disease in Northern England: In-depth analysis of a muscle clinic population
-
2-s2.0-70350690312 10.1093/brain/awp236
-
Norwood F. L. M., Harling C., Chinnery P. F., Eagle M., Bushby K., Straub V., Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain 2009 132 11 3175 3186 2-s2.0-70350690312 10.1093/brain/awp236
-
(2009)
Brain
, vol.132
, Issue.11
, pp. 3175-3186
-
-
Norwood, F.L.M.1
Harling, C.2
Chinnery, P.F.3
Eagle, M.4
Bushby, K.5
Straub, V.6
-
15
-
-
10744233522
-
Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency
-
DOI 10.1038/ng1270
-
Irwin W. A., Bergamin N., Sabatelli P., Reggiani C., Megighian A., Merlini L., Braghetta P., Columbaro M., Volpin D., Bressan G. M., Bernardi P., Bonaldo P., Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency. Nature Genetics 2003 35 4 367 371 2-s2.0-10744233522 10.1038/ng1270 (Pubitemid 37486921)
-
(2003)
Nature Genetics
, vol.35
, Issue.4
, pp. 367-371
-
-
Irwin, W.A.1
Bergamin, N.2
Sabatelli, P.3
Reggiani, C.4
Megighian, A.5
Merlini, L.6
Braghetta, P.7
Columbaro, M.8
Volpin, D.9
Bressan, G.M.10
Bernardi, P.11
Bonaldo, P.12
-
16
-
-
33846477445
-
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins
-
DOI 10.1073/pnas.0610270104
-
Angelin A., Tiepolo T., Sabatelli P., Grumati P., Bergamin N., Golfieri C., Mattioli E., Gualandi F., Ferlini A., Merlini L., Maraldi N. M., Bonaldo P., Bernardi P., Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins. Proceedings of the National Academy of Sciences of the United States of America 2007 104 3 991 996 2-s2.0-33846477445 10.1073/pnas.0610270104 (Pubitemid 46154724)
-
(2007)
Proceedings of the National Academy of Sciences of the United States of America
, vol.104
, Issue.3
, pp. 991-996
-
-
Angelin, A.1
Tiepolo, T.2
Sabatelli, P.3
Grumati, P.4
Bergamin, N.5
Golfieri, C.6
Mattioli, E.7
Gualandi, F.8
Ferlini, A.9
Merlini, L.10
Maraldi, N.M.11
Bonaldo, P.12
Bernardi, P.13
-
17
-
-
84855323182
-
Cyclosporine a in Ullrich congenital muscular dystrophy: Long-term results
-
2-s2.0-84855323182 10.1155/2011/139194 139194
-
Merlini L., Sabatelli P., Armaroli A., Gnudi S., Angelin A., Grumati P., Michelini M. E., Franchella A., Gualandi F., Bertini E., Maraldi N. M., Ferlini A., Bonaldo P., Bernardi P., Cyclosporine a in Ullrich congenital muscular dystrophy: long-term results. Oxidative Medicine and Cellular Longevity 2011 2011 10 2-s2.0-84855323182 10.1155/2011/139194 139194
-
(2011)
Oxidative Medicine and Cellular Longevity
, vol.2011
, pp. 10
-
-
Merlini, L.1
Sabatelli, P.2
Armaroli, A.3
Gnudi, S.4
Angelin, A.5
Grumati, P.6
Michelini, M.E.7
Franchella, A.8
Gualandi, F.9
Bertini, E.10
Maraldi, N.M.11
Ferlini, A.12
Bonaldo, P.13
Bernardi, P.14
-
18
-
-
42449109035
-
Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies
-
DOI 10.1073/pnas.0800962105
-
Merlini L., Angelin A., Tiepolo T., Braghetta P., Sabatelli P., Zamparelli A., Ferlini A., Maraldi N. M., Bonaldo P., Bernardi P., Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies. Proceedings of the National Academy of Sciences of the United States of America 2008 105 13 5225 5229 2-s2.0-42449109035 10.1073/pnas.0800962105 (Pubitemid 351738538)
-
(2008)
Proceedings of the National Academy of Sciences of the United States of America
, vol.105
, Issue.13
, pp. 5225-5229
-
-
Merlini, L.1
Angelin, A.2
Tiepolo, T.3
Braghetta, P.4
Sabatelli, P.5
Zamparelli, A.6
Ferlini, A.7
Maraldi, N.M.8
Bonaldo, P.9
Bernardi, P.10
-
19
-
-
78149319082
-
Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration
-
2-s2.0-78149319082 10.1038/nm.2247
-
Grumati P., Coletto L., Sabatelli P., Cescon M., Angelin A., Bertaggia E., Blaauw B., Urciuolo A., Tiepolo T., Merlini L., Maraldi N. M., Bernardi P., Sandri M., Bonaldo P., Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration. Nature Medicine 2010 16 11 1313 1320 2-s2.0-78149319082 10.1038/nm.2247
-
(2010)
Nature Medicine
, vol.16
, Issue.11
, pp. 1313-1320
-
-
Grumati, P.1
Coletto, L.2
Sabatelli, P.3
Cescon, M.4
Angelin, A.5
Bertaggia, E.6
Blaauw, B.7
Urciuolo, A.8
Tiepolo, T.9
Merlini, L.10
Maraldi, N.M.11
Bernardi, P.12
Sandri, M.13
Bonaldo, P.14
-
20
-
-
78149333938
-
Autophagy thwarts muscle disease
-
2-s2.0-78149333938 10.1038/nm1110-1188
-
Tolkovsky A. M., Autophagy thwarts muscle disease. Nature Medicine 2010 16 11 1188 1190 2-s2.0-78149333938 10.1038/nm1110-1188
-
(2010)
Nature Medicine
, vol.16
, Issue.11
, pp. 1188-1190
-
-
Tolkovsky, A.M.1
-
21
-
-
79960138673
-
Sarcopenia: Designing phase IIB trials
-
2-s2.0-79960138673 10.1007/s12603-011-0092-7
-
Chumlea W. C., Cesari M., Evans W. J., Ferrucci L., Fielding R. A., Pahor M., Studenski S., Vellas B., Sarcopenia: designing phase IIB trials. Journal of Nutrition, Health and Aging 2011 15 6 450 455 2-s2.0-79960138673 10.1007/s12603-011-0092-7
-
(2011)
Journal of Nutrition, Health and Aging
, vol.15
, Issue.6
, pp. 450-455
-
-
Chumlea, W.C.1
Cesari, M.2
Evans, W.J.3
Ferrucci, L.4
Fielding, R.A.5
Pahor, M.6
Studenski, S.7
Vellas, B.8
-
22
-
-
79953668113
-
Autophagy induction rescues muscular dystrophy
-
2-s2.0-79953668113 10.4161/auto.7.4.14392
-
Grumati P., Coletto L., Sandri M., Bonaldo P., Autophagy induction rescues muscular dystrophy. Autophagy 2011 7 4 426 428 2-s2.0-79953668113 10.4161/auto.7.4.14392
-
(2011)
Autophagy
, vol.7
, Issue.4
, pp. 426-428
-
-
Grumati, P.1
Coletto, L.2
Sandri, M.3
Bonaldo, P.4
-
24
-
-
79959293080
-
Macrophages: A minimally invasive tool for monitoring collagen VI myopathies
-
2-s2.0-79959293080 10.1002/mus.21999
-
Gualandi F., Curci R., Sabatelli P., Martoni E., Bovolenta M., Maraldi M. N., Merlini L., Ferlini A. A., Macrophages: a minimally invasive tool for monitoring collagen VI myopathies. Muscle and Nerve 2011 44 1 80 84 2-s2.0-79959293080 10.1002/mus.21999
-
(2011)
Muscle and Nerve
, vol.44
, Issue.1
, pp. 80-84
-
-
Gualandi, F.1
Curci, R.2
Sabatelli, P.3
Martoni, E.4
Bovolenta, M.5
Maraldi, M.N.6
Merlini, L.7
Ferlini, A.A.8
-
25
-
-
73349096286
-
Autosomal recessive Bethlem myopathy
-
2-s2.0-73349096286 10.1212/WNL.0b013e3181c3fd2a
-
Gualandi F., Urciuolo A., Martoni E., Sabatelli P., Squarzoni S., Bovolenta M., Messina S., Mercuri E., Franchella A., Ferlini A., Bonaldo P., Merlini L., Autosomal recessive Bethlem myopathy. Neurology 2009 73 22 1883 1891 2-s2.0-73349096286 10.1212/WNL.0b013e3181c3fd2a
-
(2009)
Neurology
, vol.73
, Issue.22
, pp. 1883-1891
-
-
Gualandi, F.1
Urciuolo, A.2
Martoni, E.3
Sabatelli, P.4
Squarzoni, S.5
Bovolenta, M.6
Messina, S.7
Mercuri, E.8
Franchella, A.9
Ferlini, A.10
Bonaldo, P.11
Merlini, L.12
-
26
-
-
20444396862
-
Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy
-
DOI 10.1212/01.WNL.0000163990.00057.66
-
Lucioli S., Giusti B., Mercuri E., Vanegas O. C., Lucarini L., Pietroni V., Urtizberea A., Yaou R. B., De Visser M., Van Der Kooi A. J., Bönnemann C., Iannaccone S. T., Merlini L., Bushby K., Muntoni F., Bertini E., Chu M.-L., Pepe G., Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy. Neurology 2005 64 11 1931 1937 2-s2.0-20444396862 10.1212/01.WNL.0000163990.00057.66 (Pubitemid 40800709)
-
(2005)
Neurology
, vol.64
, Issue.11
, pp. 1931-1937
-
-
Lucioli, S.1
Giusti, B.2
Mercuri, E.3
Vanegas, O.C.4
Lucarini, L.5
Pietroni, V.6
Urtizberea, A.7
Yaou, R.B.8
De Visser, M.9
Van Der Kooi, A.J.10
Bonnemann, C.11
Iannaccone, S.T.12
Merlini, L.13
Bushby, K.14
Muntoni, F.15
Bertini, E.16
Chu, M.-L.17
Pepe, G.18
-
27
-
-
0033583788
-
A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the 1(VI) collagen chain in an Italian family affected by Bethlem myopathy
-
DOI 10.1006/bbrc.1999.0680
-
Pepe G., Giusti B., Bertini E., Brunelli T., Saitta B., Comeglio P., Bolognese A., Merlini L., Federici G., Abbate R., Chu M.-L., A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the α 1(VI) collagen chain in an Italian family affected by Bethlem myopathy. Biochemical and Biophysical Research Communications 1999 258 3 802 807 2-s2.0-0033583788 10.1006/bbrc.1999.0680 (Pubitemid 29290351)
-
(1999)
Biochemical and Biophysical Research Communications
, vol.258
, Issue.3
, pp. 802-807
-
-
Pepe, G.1
Giusti, B.2
Bertini, E.3
Brunelli, T.4
Saitta, B.5
Comeglio, P.6
Bolognese, A.7
Merlini, L.8
Federici, G.9
Abbate, R.10
Chu, M.-L.11
-
28
-
-
78650282974
-
Expression of the collagen VI α 5 and α 6 Chains in normal human skin and in skin of patients with collagen VI-related myopathies
-
2-s2.0-78650282974 10.1038/jid.2010.284
-
Sabatelli P., Gara S. K., Grumati P., Urciuolo A., Gualandi F., Curci R., Squarzoni S., Zamparelli A., Martoni E., Merlini L., Paulsson M., Bonaldo P., Wagener R., Expression of the collagen VI α 5 and α 6 Chains in normal human skin and in skin of patients with collagen VI-related myopathies. Journal of Investigative Dermatology 2011 131 1 99 107 2-s2.0-78650282974 10.1038/jid.2010.284
-
(2011)
Journal of Investigative Dermatology
, vol.131
, Issue.1
, pp. 99-107
-
-
Sabatelli, P.1
Gara, S.K.2
Grumati, P.3
Urciuolo, A.4
Gualandi, F.5
Curci, R.6
Squarzoni, S.7
Zamparelli, A.8
Martoni, E.9
Merlini, L.10
Paulsson, M.11
Bonaldo, P.12
Wagener, R.13
-
29
-
-
66749094790
-
Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy
-
2-s2.0-66749094790 10.1002/humu.21022
-
Martoni E., Urciuolo A., Sabatelli P., Fabris M., Bovolenta M., Neri M., Grumati P., D'Amico A., Pane M., Mercuri E., Bertini E., Merlini L., Bonaldo P., Ferlini A., Gualandi F., Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy. Human Mutation 2009 30 5 E662 E672 2-s2.0-66749094790 10.1002/humu.21022
-
(2009)
Human Mutation
, vol.30
, Issue.5
-
-
Martoni, E.1
Urciuolo, A.2
Sabatelli, P.3
Fabris, M.4
Bovolenta, M.5
Neri, M.6
Grumati, P.7
D'Amico, A.8
Pane, M.9
Mercuri, E.10
Bertini, E.11
Merlini, L.12
Bonaldo, P.13
Ferlini, A.14
Gualandi, F.15
-
30
-
-
84858625921
-
Critical evaluation of the use of cell cultures for inclusion in clinical trials of patients affected by collagen VI myopathies
-
2-s2.0-84858625921 10.1002/jcp.23039
-
Sabatelli P., Palma E., Angelin A., Squarzoni S., Urciuolo A., Pellegrini C., Tiepolo T., Bonaldo P., Gualandi F., Merlini L., Bernardi P., Maraldi N. M., Critical evaluation of the use of cell cultures for inclusion in clinical trials of patients affected by collagen VI myopathies. Journal of Cellular Physiology 2012 227 7 2927 2935 2-s2.0-84858625921 10.1002/jcp.23039
-
(2012)
Journal of Cellular Physiology
, vol.227
, Issue.7
, pp. 2927-2935
-
-
Sabatelli, P.1
Palma, E.2
Angelin, A.3
Squarzoni, S.4
Urciuolo, A.5
Pellegrini, C.6
Tiepolo, T.7
Bonaldo, P.8
Gualandi, F.9
Merlini, L.10
Bernardi, P.11
Maraldi, N.M.12
-
31
-
-
18944379924
-
Sarcopenic obesity predicts instrumental activities of daily living disability in the elderly
-
2-s2.0-18944379924
-
Baumgartner R. N., Wayne S. J., Waters D. L., Janssen I., Gallagher D., Morley J. E., Sarcopenic obesity predicts instrumental activities of daily living disability in the elderly. Obesity research 2004 12 12 1995 2004 2-s2.0-18944379924
-
(2004)
Obesity Research
, vol.12
, Issue.12
, pp. 1995-2004
-
-
Baumgartner, R.N.1
Wayne, S.J.2
Waters, D.L.3
Janssen, I.4
Gallagher, D.5
Morley, J.E.6
-
32
-
-
0032522560
-
Epidemiology of sarcopenia among the elderly in New Mexico
-
Baumgartner R. N., Koehler K. M., Gallagher D., Romero L., Heymsfield S. B., Ross R. R., Garry P. J., Lindeman R. D., Epidemiology of sarcopenia among the elderly in New Mexico. American Journal of Epidemiology 1998 147 8 755 763 2-s2.0-0032522560 (Pubitemid 28183275)
-
(1998)
American Journal of Epidemiology
, vol.147
, Issue.8
, pp. 755-763
-
-
Baumgartner, R.N.1
Koehler, K.M.2
Gallagher, D.3
Romero, L.4
Heymsfield, S.B.5
Ross, R.R.6
Garry, P.J.7
Lindeman, R.D.8
-
34
-
-
39149115076
-
Fat-free mass and fat mass reference values by dual-energy X-ray absorptiometry (DEXA) in a 20-80 year-old Italian population
-
2-s2.0-39149115076 10.1016/j.clnu.2007.10.008
-
Coin A., Sergi G., Minicuci N., Giannini S., Barbiero E., Manzato E., Pedrazzoni M., Minisola S., Rossini M., Del Puente A., Zamboni M., Inelmen E. M., Enzi G., Fat-free mass and fat mass reference values by dual-energy X-ray absorptiometry (DEXA) in a 20-80 year-old Italian population. Clinical Nutrition 2008 27 1 87 94 2-s2.0-39149115076 10.1016/j.clnu.2007.10.008
-
(2008)
Clinical Nutrition
, vol.27
, Issue.1
, pp. 87-94
-
-
Coin, A.1
Sergi, G.2
Minicuci, N.3
Giannini, S.4
Barbiero, E.5
Manzato, E.6
Pedrazzoni, M.7
Minisola, S.8
Rossini, M.9
Del Puente, A.10
Zamboni, M.11
Inelmen, E.M.12
Enzi, G.13
-
36
-
-
0036307964
-
Reliability of hand-held dynamometry in spinal muscular atrophy
-
DOI 10.1002/mus.10166
-
Merlini L., Mazzone E. S., Solari A., Morandi L., Reliability of hand-held dynamometry in spinal muscular atrophy. Muscle and Nerve 2002 26 1 64 70 2-s2.0-0036307964 10.1002/mus.10166 (Pubitemid 34734397)
-
(2002)
Muscle and Nerve
, vol.26
, Issue.1
, pp. 64-70
-
-
Merlini, L.1
Mazzone, E.S.2
Solari, A.3
Morandi, L.4
-
37
-
-
1842529578
-
Motor function-muscle strength relationship in spinal muscular atrophy
-
DOI 10.1002/mus.20018
-
Merlini L., Bertini E., Minetti C., Mongini T., Morandi L., Angelini C., Vita G., Motor function-muscle strength relationship in spinal muscular atrophy. Muscle and Nerve 2004 29 4 548 552 2-s2.0-1842529578 10.1002/mus.20018 (Pubitemid 38451346)
-
(2004)
Muscle and Nerve
, vol.29
, Issue.4
, pp. 548-552
-
-
Merlini, L.1
Bertini, E.2
Minetti, C.3
Mongini, T.4
Morandi, L.5
Angelini, C.6
Vita, G.7
-
38
-
-
0042383467
-
Role of gabapentin in spinal muscular atrophy: Results of a multicenter, randomized Italian study
-
Merlini L., Solari A., Vita G., Bertini E., Minetti C., Mongini T., Mazzoni E., Angelini C., Morandi L., Role of gabapentin in spinal muscular atrophy: results of a multicenter, randomized Italian study. Journal of Child Neurology 2003 18 8 537 541 2-s2.0-0042383467 (Pubitemid 37098628)
-
(2003)
Journal of Child Neurology
, vol.18
, Issue.8
, pp. 537-541
-
-
Merlini, L.1
Solari, A.2
Vita, G.3
Bertini, E.4
Minetti, C.5
Mongini, T.6
Mazzoni, E.7
Angelini, C.8
Morandi, L.9
-
39
-
-
0038813879
-
Can we eliminate placebo in ALS clinical trials?
-
DOI 10.1080/14660820301169
-
Bryan W. W., Hoagland R. J., Murphy J., Armon C., Barohn R. J., Goodpasture J. C., Miller R. G., Parry G. J., Petajan J. H., Ross M. A., Stromatt S. C., Belsh J. M., Buchman A. S., Donofrio P. D., Eisen A. A., Gan R. A., Gutmann L., Horowitz S. H., Jackon C. E., Johnston W. S., Kelly J. J., Mandler R. N., Massey J. M., McGuire D., Newman D. S., Pascuzzi R. M., Petajan J. H., Phillips L. H., Rivner M. H., Rubin M. A., Russo L. S., Sergay S. M., Sumner A. J., Swenson M. R., Teitel L., Can we eliminate placebo in ALS clinical trials? Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders 2003 4 1 11 15 2-s2.0-0038813879 10.1080/14660820301169 (Pubitemid 36626553)
-
(2003)
Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders
, vol.4
, Issue.1
, pp. 11-15
-
-
Bryan, W.W.1
Hoagland, R.J.2
Murphy, J.3
Armon, C.4
Barohn, R.J.5
Goodpasture, J.C.6
Miller, R.G.7
Parry, G.J.8
Petajan, J.H.9
Ross, M.A.10
Stromatt, S.C.11
Belsh, J.M.12
Buchman, A.S.13
Donofrio, P.D.14
Eisen, A.A.15
Gan, R.A.16
Gutmann, L.17
Horowitz, S.H.18
Jackon, C.E.19
Johnston, W.S.20
Kelly, J.J.21
Mandler, R.N.22
Massey, J.M.23
McGuire, D.24
Newman, D.S.25
Pascuzzi, R.M.26
Petajan, J.H.27
Phillips, L.H.28
Rivner, M.H.29
Rubin, M.A.30
Russo, L.S.31
Sergay, S.M.32
Sumner, A.J.33
Swenson, M.R.34
Teitel, L.35
more..
-
40
-
-
0034980532
-
Reference values of maximum isometric muscle force obtained in 270 children aged 4-16 years by hand-held dynamometry
-
DOI 10.1016/S0960-8966(01)00193-6, PII S0960896601001936
-
Beenakker E. A. C., Van der Hoeven J. H., Fock J. M., Maurits N. M., Reference values of maximum isometric muscle force obtained in 270 children aged 4-16 years by hand-held dynamometry. Neuromuscular Disorders 2001 11 5 441 446 2-s2.0-0034980532 10.1016/S0960-8966(01)00193-6 (Pubitemid 32510003)
-
(2001)
Neuromuscular Disorders
, vol.11
, Issue.5
, pp. 441-446
-
-
Beenakker, E.A.C.1
Van Der Hoeven, J.H.2
Fock, J.M.3
Maurits, N.M.4
-
41
-
-
33746211633
-
Reference values for the 6-min walk test in healthy subjects 20-50 years old
-
DOI 10.1016/j.rmed.2006.01.001, PII S0954611106000060
-
Chetta A., Zanini A., Pisi G., Aiello M., Tzani P., Neri M., Olivieri D., Reference values for the 6-min walk test in healthy subjects 20-50 years old. Respiratory Medicine 2006 100 9 1573 1578 2-s2.0-33746211633 10.1016/j.rmed.2006.01.001 (Pubitemid 44089362)
-
(2006)
Respiratory Medicine
, vol.100
, Issue.9
, pp. 1573-1578
-
-
Chetta, A.1
Zanini, A.2
Pisi, G.3
Aiello, M.4
Tzani, P.5
Neri, M.6
Olivieri, D.7
-
42
-
-
0036111711
-
Validity of body mass index compared with other body-composition screening indexes for the assessment of body fatness in children and adolescents
-
Mei Z., Grummer-Strawn L. M., Pietrobelli A., Goulding A., Goran M. I., Dietz W. H., Validity of body mass index compared with other body-composition screening indexes for the assessment of body fatness in children and adolescents. American Journal of Clinical Nutrition 2002 75 6 978 985 2-s2.0-0036111711 (Pubitemid 34547525)
-
(2002)
American Journal of Clinical Nutrition
, vol.75
, Issue.6
, pp. 978-985
-
-
Mei, Z.1
Grummer-Strawn, L.M.2
Pietrobelli, A.3
Goulding, A.4
Goran, M.I.5
Dietz, W.H.6
-
43
-
-
0021813909
-
2) as a measure of fatness
-
Garrow J. S., Webster J., Quetelet's index (W/H2) as a measure of fatness. International Journal of Obesity 1985 9 2 147 153 2-s2.0-0021813909 (Pubitemid 15043191)
-
(1985)
International Journal of Obesity
, vol.9
, Issue.2
, pp. 147-153
-
-
Garrow, J.S.1
Webster, J.2
-
44
-
-
0030835294
-
Appendicular skeletal muscle mass: Effects of age, gender, and ethnicity
-
Gallagher D., Visser M., De Meersman R. E., Sepúlveda D., Baumgartner R. N., Pierson R. N., Harris T., Heymsfield S. B., Appendicular skeletal muscle mass: effects of age, gender, and ethnicity. Journal of Applied Physiology 1997 83 1 229 239 2-s2.0-0030835294 (Pubitemid 27304754)
-
(1997)
Journal of Applied Physiology
, vol.83
, Issue.1
, pp. 229-239
-
-
Gallagher, D.1
Visser, M.2
De Meersman, R.E.3
Sepulveda, D.4
Baumgartner, R.N.5
Pierson, R.N.6
Harris, T.7
Heymsfield, S.B.8
-
45
-
-
0028211977
-
Dual-energy X-ray absorptiometry in neuromuscular diseases
-
Kanda F., Fujii Y., Takahashi K., Fujita T., Dual-energy X-ray absorptiometry in neuromuscular diseases. Muscle and Nerve 1994 17 4 431 435 2-s2.0-0028211977 (Pubitemid 24096539)
-
(1994)
Muscle and Nerve
, vol.17
, Issue.4
, pp. 431-435
-
-
Kanda, F.1
Fujii, Y.2
Takahashi, K.3
Fujita, T.4
-
46
-
-
0029863002
-
Assessment of whole body composition with dual energy x-ray absorptiometry in Duchenne muscular dystrophy: Correlation of lean body mass with muscle function
-
DOI 10.1002/(SICI)1097-4598(199606)19:6<777::AID-MUS15>3.0.CO;2-I
-
Palmieri G. M., Bertorini T. E., Griffin J. W., Igarashi M., Karas J. G., Assessment of whole body composition with dual energy X-ray absorptiometry in Duchenne muscular dystrophy: correlation of lean body mass with muscle function. Muscle Nerve 1996 19 6 777 779 (Pubitemid 26134591)
-
(1996)
Muscle and Nerve
, vol.19
, Issue.6
, pp. 777-779
-
-
Palmieri, G.M.A.1
Bertorini, T.E.2
Griffin, J.W.3
Igarashi, M.4
Karas, J.G.5
-
47
-
-
84855919464
-
Decreased bone mineral density in adult patients with muscular dystrophy
-
2-s2.0-84855919464 10.1016/j.jbspin.2011.05.006
-
Philippe V., Pruna L., Abdel Fattah M., Pascal V., Kaminsky P., Decreased bone mineral density in adult patients with muscular dystrophy. Joint Bone Spine 2011 78 6 647 654 2-s2.0-84855919464 10.1016/j.jbspin.2011.05.006
-
(2011)
Joint Bone Spine
, vol.78
, Issue.6
, pp. 647-654
-
-
Philippe, V.1
Pruna, L.2
Abdel Fattah, M.3
Pascal, V.4
Kaminsky, P.5
-
48
-
-
80052877093
-
Regional body composition and functional impairment in patients with myotonic dystrophy
-
2-s2.0-80052877093 10.1002/mus.22099
-
Pruna L., Chatelin J., Pascal-Vigneron V., Kaminsky P., Regional body composition and functional impairment in patients with myotonic dystrophy. Muscle and Nerve 2011 44 4 503 508 2-s2.0-80052877093 10.1002/mus.22099
-
(2011)
Muscle and Nerve
, vol.44
, Issue.4
, pp. 503-508
-
-
Pruna, L.1
Chatelin, J.2
Pascal-Vigneron, V.3
Kaminsky, P.4
-
49
-
-
77952012386
-
166th ENMC International Workshop on Collagen type VI-related Myopathies, 22-24 May 2009, Naarden, the Netherlands
-
2-s2.0-77952012386 10.1016/j.nmd.2010.02.012
-
Allamand V., Merlini L., Bushby K., 166th ENMC International Workshop on Collagen type VI-related Myopathies, 22-24 May 2009, Naarden, The Netherlands. Neuromuscular Disorders 2010 20 5 346 354 2-s2.0-77952012386 10.1016/j.nmd.2010.02.012
-
(2010)
Neuromuscular Disorders
, vol.20
, Issue.5
, pp. 346-354
-
-
Allamand, V.1
Merlini, L.2
Bushby, K.3
-
50
-
-
77950868010
-
The use of muscle strength assessed with handheld dynamometers as a non-invasive biological marker in myotonic dystrophy type 1 patients: A multicenter study
-
article 72 2-s2.0-77950868010 10.1186/1471-2474-11-72
-
Hébert L. J., Remec J.-F., Saulnier J., Vial C., Puymirat J., The use of muscle strength assessed with handheld dynamometers as a non-invasive biological marker in myotonic dystrophy type 1 patients: a multicenter study. BMC Musculoskeletal Disorders 2010 11 article 72 2-s2.0-77950868010 10.1186/1471-2474-11-72
-
(2010)
BMC Musculoskeletal Disorders
, vol.11
-
-
Hébert, L.J.1
Remec, J.-F.2
Saulnier, J.3
Vial, C.4
Puymirat, J.5
-
51
-
-
84873573109
-
Treatment of dysferlinopathy with deflazacort: A double-blind, placebo-controlled clinical trial
-
Walter M. C., Reilich P., Thiele S., Schessl J., Schreiber H., Reiners K., Kress W., Muller-Reible C., Vorgerd M., Urban P., Treatment of dysferlinopathy with deflazacort: a double-blind, placebo-controlled clinical trial. Orphanet Journal of Rare Diseases 2013 8 1, article 26
-
(2013)
Orphanet Journal of Rare Diseases
, vol.8
, Issue.1 ARTICLE 26
-
-
Walter, M.C.1
Reilich, P.2
Thiele, S.3
Schessl, J.4
Schreiber, H.5
Reiners, K.6
Kress, W.7
Muller-Reible, C.8
Vorgerd, M.9
Urban, P.10
-
52
-
-
1942475948
-
Determinants and upper-limit heritabilities of skeletal muscle mass and strength
-
Huygens W., Thomis M. A., Peeters M. W., Vlietinck R. F., Beunen G. P., Determinants and upper-limit heritabilities of skeletal muscle mass and strength. Canadian Journal of Applied Physiology 2004 29 2 186 200 2-s2.0-1942475948 (Pubitemid 38497247)
-
(2004)
Canadian Journal of Applied Physiology
, vol.29
, Issue.2
, pp. 186-200
-
-
Huygens, W.1
Thomis, M.A.2
Peeters, M.W.3
Vlietinck, R.F.4
Beunen, G.P.5
-
53
-
-
0023116563
-
Strength evaluation in neuromuscular disease
-
Cook J. D., Glass D. S., Strength evaluation in neuromuscular disease. Neurologic Clinics 1987 5 1 101 123 2-s2.0-0023116563 (Pubitemid 17033111)
-
(1987)
Neurologic Clinics
, vol.5
, Issue.1
, pp. 101-123
-
-
Cook, J.D.1
Glass, D.S.2
-
54
-
-
33344456215
-
Six minute walk distance in healthy subjects aged 55-75 years
-
DOI 10.1016/j.rmed.2005.08.003, PII S0954611105003264
-
Camarri B., Eastwood P. R., Cecins N. M., Thompson P. J., Jenkins S., Six minute walk distance in healthy subjects aged 55-75 years. Respiratory Medicine 2006 100 4 658 665 2-s2.0-33344456215 10.1016/j.rmed.2005.08.003 (Pubitemid 43285753)
-
(2006)
Respiratory Medicine
, vol.100
, Issue.4
, pp. 658-665
-
-
Camarri, B.1
Eastwood, P.R.2
Cecins, N.M.3
Thompson, P.J.4
Jenkins, S.5
-
55
-
-
0032843120
-
Six minute walking distance in healthy elderly subjects
-
DOI 10.1034/j.1399-3003.1999.14b06.x
-
Troosters T., Gosselink R., Decramer M., Six minute walking distance in healthy elderly subjects. European Respiratory Journal 1999 14 2 270 274 2-s2.0-0032843120 10.1034/j.1399-3003.1999.14b06.x (Pubitemid 29461288)
-
(1999)
European Respiratory Journal
, vol.14
, Issue.2
, pp. 270-274
-
-
Troosters, T.1
Gosselink, R.2
Decramer, M.3
-
56
-
-
80155214155
-
Reference equations for the performance of healthy adults on field walking tests
-
2-s2.0-80155214155 10.1590/S1806-37132011000500007
-
Dourado V. Z., Vidotto M. C., Guerra R. L. F., Reference equations for the performance of healthy adults on field walking tests. Jornal Brasileiro de Pneumologia 2011 37 5 607 614 2-s2.0-80155214155 10.1590/S1806-37132011000500007
-
(2011)
Jornal Brasileiro de Pneumologia
, vol.37
, Issue.5
, pp. 607-614
-
-
Dourado, V.Z.1
Vidotto, M.C.2
Guerra, R.L.F.3
|