-
1
-
-
80052477741
-
Limb girdle muscular dystro-phies: Update on genetic diagnosis and therapeutic approaches
-
Nigro V, Aurino S, Piluso G. Limb girdle muscular dystro-phies: update on genetic diagnosis and therapeutic approaches. Curr Opin Neurol. 2011;24(5):429-436.
-
(2011)
Curr Opin Neurol.
, vol.24
, Issue.5
, pp. 429-436
-
-
Nigro, V.1
Aurino, S.2
Piluso, G.3
-
2
-
-
25644442465
-
Molecular etiopathogenesis of limb girdle muscular and congenital muscular dystro-phies: Boundaries and contiguities
-
Guglieri M, Magri F, Comi GP. Molecular etiopathogenesis of limb girdle muscular and congenital muscular dystro-phies: boundaries and contiguities. Clin Chim Acta. 2005; 361(1-2):54-79.
-
(2005)
Clin Chim Acta.
, vol.361
, Issue.1-2
, pp. 54-79
-
-
Guglieri, M.1
Magri, F.2
Comi, G.P.3
-
4
-
-
82755189495
-
Calpains: An elaborate proteolytic system
-
Ono Y, Sorimachi H. Calpains: an elaborate proteolytic system. Biochim Biophys Acta. 2012;1824(1):224-236.
-
(2012)
Biochim Biophys Acta.
, vol.1824
, Issue.1
, pp. 224-236
-
-
Ono, Y.1
Sorimachi, H.2
-
5
-
-
79952451731
-
Non-proteolytic functions of calpain-3 in sarcoplasmic reticulum in skeletal muscles
-
Ojima K, Ono Y, Ottenheijm C, et al. Non-proteolytic functions of calpain-3 in sarcoplasmic reticulum in skeletal muscles. J Mol Biol. 2011;407(3):439-449.
-
(2011)
J Mol Biol.
, vol.407
, Issue.3
, pp. 439-449
-
-
Ojima, K.1
Ono, Y.2
Ottenheijm, C.3
-
6
-
-
77949457256
-
The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B)
-
Angelini C, Nardetto L, Borsato C, et al. The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B). Neurol Res. 2010;32(1):41-46.
-
(2010)
Neurol Res.
, vol.32
, Issue.1
, pp. 41-46
-
-
Angelini, C.1
Nardetto, L.2
Borsato, C.3
-
7
-
-
84865357830
-
Analysis of calpain-3 protein in muscle biopsies of different muscular dystro-phies from India
-
Renjini R, Gayathri N, Nalini A, et al. Analysis of calpain-3 protein in muscle biopsies of different muscular dystro-phies from India. Indian J Med Res. 2012;135(6):878-886.
-
(2012)
Indian J Med Res.
, vol.135
, Issue.6
, pp. 878-886
-
-
Renjini, R.1
Gayathri, N.2
Nalini, A.3
-
8
-
-
20644457129
-
Limb-girdle mus-cular dystrophy: An immunohistochemical diagnostic approach
-
Comerlato EA, Scola RH, Werneck LC. Limb-girdle mus-cular dystrophy: an immunohistochemical diagnostic approach. Arq Neuropsiquiatr. 2005;63(2A):235-245.
-
(2005)
Arq Neuropsiquiatr.
, vol.63
, Issue.2 A
, pp. 235-245
-
-
Comerlato, E.A.1
Scola, R.H.2
Werneck, L.C.3
-
9
-
-
84857067083
-
Immunodetection analysis of muscular dystrophies in Mexico
-
Gómez-Díaz B, Rosas-Vargas H, Roque-Ramírez B, et al. Immunodetection analysis of muscular dystrophies in Mexico. Muscle Nerve. 2012;45(3):338-345.
-
(2012)
Muscle Nerve.
, vol.45
, Issue.3
, pp. 338-345
-
-
Gómez-Díaz, B.1
Rosas-Vargas, H.2
Roque-Ramírez, B.3
-
10
-
-
79951885581
-
Clinical and pathological features in 15 Chinese patients with calpainopathy
-
Luo SS, Xi JY, Lu JH, et al. Clinical and pathological features in 15 Chinese patients with calpainopathy. Muscle Nerve. 2011;43(3):402-409.
-
(2011)
Muscle Nerve.
, vol.43
, Issue.3
, pp. 402-409
-
-
Luo, S.S.1
Xi, J.Y.2
Lu, J.H.3
-
11
-
-
17344365600
-
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
-
Liu J, Aoki M, Illa I, et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet. 1998;20(1):31-36.
-
(1998)
Nat Genet.
, vol.20
, Issue.1
, pp. 31-36
-
-
Liu, J.1
Aoki, M.2
Illa, I.3
-
13
-
-
84861426111
-
Bent spine syndrome: A phenotype of dysferlinopathy or a symptomatic DYSF gene mutation carrier
-
Gáti I, Danielsson O, Gunnarsson C, et al. Bent spine syndrome: a phenotype of dysferlinopathy or a symptomatic DYSF gene mutation carrier. Eur Neurol. 2012;67(5): 300-302.
-
(2012)
Eur Neurol.
, vol.67
, Issue.5
, pp. 300-302
-
-
Gáti, I.1
Danielsson, O.2
Gunnarsson, C.3
-
14
-
-
77955159118
-
Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies
-
Paradas C, Llauger J, Diaz-Manera J, et al. Redefining dysferlinopathy phenotypes based on clinical findings and muscle imaging studies. Neurology. 2010;75(4):316-323.
-
(2010)
Neurology.
, vol.75
, Issue.4
, pp. 316-323
-
-
Paradas, C.1
Llauger, J.2
Diaz-Manera, J.3
-
15
-
-
0036135804
-
A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy
-
Ho M, Gallardo E, McKenna-Yasek D, et al. A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy. Ann Neurol. 2002; 51(1):129-133.
-
(2002)
Ann Neurol.
, vol.51
, Issue.1
, pp. 129-133
-
-
Ho, M.1
Gallardo, E.2
McKenna-Yasek, D.3
-
16
-
-
0037738510
-
Defective membrane repair in dysferlin-deficient muscular dystrophy
-
Bansal D, Miyake K, Vogel SS, et al. Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature. 2003;423(6936):168-172.
-
(2003)
Nature.
, vol.423
, Issue.6936
, pp. 168-172
-
-
Bansal, D.1
Miyake, K.2
Vogel, S.S.3
-
17
-
-
80052033151
-
Muscular dy-strophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations
-
Cacciottolo M, Numitone G, Aurino S, et al. Muscular dy-strophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations. Eur J Hum Genet. 2011;19(9):974-980.
-
(2011)
Eur J Hum Genet.
, vol.19
, Issue.9
, pp. 974-980
-
-
Cacciottolo, M.1
Numitone, G.2
Aurino, S.3
-
18
-
-
33746001621
-
Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlino-pathies
-
Nguyen K, Bassez G, Bernard R, et al. Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlino-pathies. Hum Mutat. 2005;26(2):165.
-
(2005)
Hum Mutat.
, vol.26
, Issue.2
, pp. 165
-
-
Nguyen, K.1
Bassez, G.2
Bernard, R.3
-
19
-
-
33746701373
-
Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dy-strophies
-
Cagliani R, Magri F, Toscano A, et al. Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dy-strophies. Hum Mutat. 2005;26(3):283.
-
(2005)
Hum Mutat.
, vol.26
, Issue.3
, pp. 283
-
-
Cagliani, R.1
Magri, F.2
Toscano, A.3
-
20
-
-
6344234931
-
Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy
-
Kawabe K, Goto K, Nishino I, et al. Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy. Eur J Neurol. 2004;11(10):657-661.
-
(2004)
Eur J Neurol.
, vol.11
, Issue.10
, pp. 657-661
-
-
Kawabe, K.1
Goto, K.2
Nishino, I.3
-
21
-
-
0028146869
-
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
-
Roberds SL, Leturcq F, Allamand V, et al. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell. 1994;78(4):625-633.
-
(1994)
Cell.
, vol.78
, Issue.4
, pp. 625-633
-
-
Roberds, S.L.1
Leturcq, F.2
Allamand, V.3
-
22
-
-
0031920515
-
Mutations in the cave-olin-3 gene cause autosomal dominant limb-girdle mus-cular dystrophy
-
Minetti C, Sotgia F, Bruno C, et al. Mutations in the cave-olin-3 gene cause autosomal dominant limb-girdle mus-cular dystrophy. Nat Genet. 1998;18(4):365-368.
-
(1998)
Nat Genet.
, vol.18
, Issue.4
, pp. 365-368
-
-
Minetti, C.1
Sotgia, F.2
Bruno, C.3
-
23
-
-
38749153262
-
Limb-girdle muscu-lar dystrophy: Diagnostic evaluation, frequency and clues to pathogenesis
-
Lo HP, Cooper ST, Evesson FJ, et al. Limb-girdle muscu-lar dystrophy: diagnostic evaluation, frequency and clues to pathogenesis. Neuromuscul Disord. 2008;18(1):34-44.
-
(2008)
Neuromuscul Disord.
, vol.18
, Issue.1
, pp. 34-44
-
-
Lo, H.P.1
Cooper, S.T.2
Evesson, F.J.3
-
24
-
-
15444348850
-
A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey
-
Dinçer P, Leturcq F, Richard I, et al. A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey. Ann Neurol. 1997;42(2): 222-229.
-
(1997)
Ann Neurol.
, vol.42
, Issue.2
, pp. 222-229
-
-
Dinçer, P.1
Leturcq, F.2
Richard, I.3
-
25
-
-
0031691228
-
Limb-girdle mus-cular dystrophy in Guipúzcoa (Basque Country, Spain)
-
Urtasun M, Sáenz A, Roudaut C, et al. Limb-girdle mus-cular dystrophy in Guipúzcoa (Basque Country, Spain). Brain. 1998;121 (Pt 9):1735-1747.
-
(1998)
Brain.
, vol.121
, Issue.PART 9
, pp. 1735-1747
-
-
Urtasun, M.1
Sáenz, A.2
Roudaut, C.3
-
26
-
-
0034146423
-
High incidence of 550delA mutation of CAPN3 in LGMD2 pa-tients from Russia
-
Pogoda TV, Krakhmaleva IN, Lipatova NA, et al. High incidence of 550delA mutation of CAPN3 in LGMD2 pa-tients from Russia. Hum Mutat. 2000;15(3):295.
-
(2000)
Hum Mutat.
, vol.15
, Issue.3
, pp. 295
-
-
Pogoda, T.V.1
Krakhmaleva, I.N.2
Lipatova, N.A.3
-
27
-
-
0042071489
-
The 10 autosomal recessive limb-girdle muscular dystrophies
-
Zatz M, de Paula F, Starling A, et al. The 10 autosomal recessive limb-girdle muscular dystrophies. Neuromuscul Disord. 2003;13(7-8):532-544.
-
(2003)
Neuromuscul Disord.
, vol.13
, Issue.7-8
, pp. 532-544
-
-
Zatz, M.1
de Paula, F.2
Starling, A.3
-
28
-
-
67449119353
-
Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes
-
Fanin M, Nascimbeni AC, Aurino S, et al. Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes. Neurology. 2009;72(16):1432-1435.
-
(2009)
Neurology.
, vol.72
, Issue.16
, pp. 1432-1435
-
-
Fanin, M.1
Nascimbeni, A.C.2
Aurino, S.3
-
29
-
-
38949205725
-
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients
-
Guglieri M, Magri F, D'Angelo MG, et al. Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. Hum Mutat. 2008;29(2):258-266.
-
(2008)
Hum Mutat.
, vol.29
, Issue.2
, pp. 258-266
-
-
Guglieri, M.1
Magri, F.2
D'Angelo, M.G.3
-
30
-
-
78650306311
-
Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I
-
Stensland E, Lindal S, Jonsrud C, et al. Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I. Neuro-muscul Disord. 2011;21(1):41-46.
-
(2011)
Neuro-muscul Disord.
, vol.21
, Issue.1
, pp. 41-46
-
-
Stensland, E.1
Lindal, S.2
Jonsrud, C.3
-
31
-
-
33646353390
-
High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark
-
Sveen ML, Schwartz M, Vissing J. High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. Ann Neurol. 2006;59(5): 808-815.
-
(2006)
Ann Neurol.
, vol.59
, Issue.5
, pp. 808-815
-
-
Sveen, M.L.1
Schwartz, M.2
Vissing, J.3
-
32
-
-
34250310831
-
Sarcoglyca-nopathies: A clinico-pathological study
-
Meena AK, Sreenivas D, Sundaram C, et al. Sarcoglyca-nopathies: a clinico-pathological study. Neurol India. 2007;55(2):117-121.
-
(2007)
Neurol India.
, vol.55
, Issue.2
, pp. 117-121
-
-
Meena, A.K.1
Sreenivas, D.2
Sundaram, C.3
-
33
-
-
79959203801
-
Dysferlinopathy: Spectrum of pathological changes in skeletal muscle tis-sue
-
Gayathri N, Alefia R, Nalini A, et al. Dysferlinopathy: spectrum of pathological changes in skeletal muscle tis-sue. Indian J Pathol Microbiol. 2011;54(2):350-354.
-
(2011)
Indian J Pathol Microbiol.
, vol.54
, Issue.2
, pp. 350-354
-
-
Gayathri, N.1
Alefia, R.2
Nalini, A.3
-
34
-
-
33749486764
-
Limb-girdle mus-cular dystrophy in the United States
-
Moore SA, Shilling CJ, Westra S, et al. Limb-girdle mus-cular dystrophy in the United States. J Neuropathol Exp Neurol. 2006;65(10):995-1003.
-
(2006)
J Neuropathol Exp Neurol.
, vol.65
, Issue.10
, pp. 995-1003
-
-
Moore, S.A.1
Shilling, C.J.2
Westra, S.3
-
35
-
-
78650406001
-
Rapid screening for Japanese dysferlinopathy by fluorescent primer exten-sion
-
Hayashi S, Ohsawa Y, Takahashi T, et al. Rapid screening for Japanese dysferlinopathy by fluorescent primer exten-sion. Intern Med. 2010;49(24):2693-2696.
-
(2010)
Intern Med.
, vol.49
, Issue.24
, pp. 2693-2696
-
-
Hayashi, S.1
Ohsawa, Y.2
Takahashi, T.3
-
36
-
-
20144389936
-
LGMD2A: Geno-type-phenotype correlations based on a large mutational survey on the calpain 3 gene
-
Sáenz A, Leturcq F, Cobo AM, et al. LGMD2A: geno-type-phenotype correlations based on a large mutational survey on the calpain 3 gene. Brain. 2005;128(Pt 4):732-742.
-
(2005)
Brain.
, vol.128
, Issue.PART 4
, pp. 732-742
-
-
Sáenz, A.1
Leturcq, F.2
Cobo, A.M.3
-
37
-
-
34548213627
-
Dysferlin expression in limb-girdle muscular dystrophy and Miyoshi myopathy: Analysis of 45 cases
-
Ren SC, Yan CZ, Li MX, et al. Dysferlin expression in limb-girdle muscular dystrophy and Miyoshi myopathy: analysis of 45 cases. Zhonghua Yi Xue Za Zhi. 2007; 87(21):1486-1490.
-
(2007)
Zhonghua Yi Xue Za Zhi.
, vol.87
, Issue.21
, pp. 1486-1490
-
-
Ren, S.C.1
Yan, C.Z.2
Li, M.X.3
-
38
-
-
0029963979
-
Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island
-
Fardeau M, Hillaire D, Mignard C, et al. Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island. Brain. 1996;119 (Pt 1):295-308.
-
(1996)
Brain.
, vol.119
, Issue.PART 1
, pp. 295-308
-
-
Fardeau, M.1
Hillaire, D.2
Mignard, C.3
-
39
-
-
3042824625
-
Molecular diagnosis in LGMD2A: Mutation analysis or protein testing?
-
Fanin M, Fulizio L, Nascimbeni AC, et al. Molecular diagnosis in LGMD2A: mutation analysis or protein testing? Hum Mutat. 2004;24(1):52-62.
-
(2004)
Hum Mutat.
, vol.24
, Issue.1
, pp. 52-62
-
-
Fanin, M.1
Fulizio, L.2
Nascimbeni, A.C.3
-
40
-
-
67349169980
-
How to tackle the diagnosis of limb-girdle muscular dystrophy 2A
-
Fanin M, Nascimbeni AC, Tasca E, et al. How to tackle the diagnosis of limb-girdle muscular dystrophy 2A. Eur J Hum Genet. 2009;17(5):598-603.
-
(2009)
Eur J Hum Genet.
, vol.17
, Issue.5
, pp. 598-603
-
-
Fanin, M.1
Nascimbeni, A.C.2
Tasca, E.3
-
41
-
-
36749092258
-
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A
-
Groen EJ, Charlton R, Barresi R, et al. Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A. Brain. 2007;130(Pt 12):3237-3249.
-
(2007)
Brain.
, vol.130
, Issue.PART 12
, pp. 3237-3249
-
-
Groen, E.J.1
Charlton, R.2
Barresi, R.3
-
42
-
-
0034703176
-
Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy
-
Herrmann R, Straub V, Blank M, et al. Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy. Hum Mol Genet. 2000;9(15):2335-2340.
-
(2000)
Hum Mol Genet.
, vol.9
, Issue.15
, pp. 2335-2340
-
-
Herrmann, R.1
Straub, V.2
Blank, M.3
-
43
-
-
0043280851
-
Novel sarcoglycan gene mutations in a large cohort of Italian patients
-
Boito C, Fanin M, Siciliano G, et al. Novel sarcoglycan gene mutations in a large cohort of Italian patients. J Med Genet. 2003;40(5):e67.
-
(2003)
J Med Genet.
, vol.40
, Issue.5
-
-
Boito, C.1
Fanin, M.2
Siciliano, G.3
-
44
-
-
0031849289
-
Different manners of sarcoglycan expression in genetically proven alpha-sarc-oglycan deficiency and gamma-sarcoglycan deficiency
-
Higuchi I, Kawai H, Umaki Y, et al. Different manners of sarcoglycan expression in genetically proven alpha-sarc-oglycan deficiency and gamma-sarcoglycan deficiency. Acta Neuropathol. 1998;96(2):202-206.
-
(1998)
Acta Neuropathol.
, vol.96
, Issue.2
, pp. 202-206
-
-
Higuchi, I.1
Kawai, H.2
Umaki, Y.3
-
45
-
-
45749149164
-
Revised spectrum of mutations in sarcoglycanopathies
-
Trabelsi M, Kavian N, Daoud F, et al. Revised spectrum of mutations in sarcoglycanopathies. Eur J Hum Genet. 2008;16(7):793-803.
-
(2008)
Eur J Hum Genet.
, vol.16
, Issue.7
, pp. 793-803
-
-
Trabelsi, M.1
Kavian, N.2
Daoud, F.3
-
46
-
-
56649105127
-
Sarcoglyca-nopathies: Can muscle immunoanalysis predict the geno-type?
-
Klinge L, Dekomien G, Aboumousa A, et al. Sarcoglyca-nopathies: can muscle immunoanalysis predict the geno-type? Neuromuscul Disord. 2008;18(12):934-941.
-
(2008)
Neuromuscul Disord.
, vol.18
, Issue.12
, pp. 934-941
-
-
Klinge, L.1
Dekomien, G.2
Aboumousa, A.3
-
47
-
-
13844275664
-
The frequency of limb girdle muscular dystrophy 2A in northeastern Italy
-
Fanin M, Nascimbeni AC, Fulizio L, et al. The frequency of limb girdle muscular dystrophy 2A in northeastern Italy. Neuromuscul Disord. 2005;15(3):218-224.
-
(2005)
Neuromuscul Disord.
, vol.15
, Issue.3
, pp. 218-224
-
-
Fanin, M.1
Nascimbeni, A.C.2
Fulizio, L.3
-
48
-
-
0036022277
-
Clinical heterogeneity in dysferlinopathy
-
Ueyama H, Kumamoto T, Horinouchi H, et al. Clinical heterogeneity in dysferlinopathy. Intern Med. 2002;41(7): 532-536.
-
(2002)
Intern Med.
, vol.41
, Issue.7
, pp. 532-536
-
-
Ueyama, H.1
Kumamoto, T.2
Horinouchi, H.3
-
49
-
-
78650687723
-
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dy-strophy
-
Hicks D, Sarkozy A, Muelas N, et al. A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dy-strophy. Brain. 2011;134(Pt 1):171-182.
-
(2011)
Brain.
, vol.134
, Issue.PART 1
, pp. 171-182
-
-
Hicks, D.1
Sarkozy, A.2
Muelas, N.3
-
50
-
-
56049124813
-
Dysferlinopathy: A clinical and his-topathological study of 28 patients from India
-
Nalini A, Gayathri N. Dysferlinopathy: a clinical and his-topathological study of 28 patients from India. Neurol India. 2008;56(3):379-387.
-
(2008)
Neurol India.
, vol.56
, Issue.3
, pp. 379-387
-
-
Nalini, A.1
Gayathri, N.2
-
51
-
-
84862858252
-
Heterogeneous charac-teristics of Korean patients with dysferlinopathy
-
Park HJ, Hong JM, Suh GI, et al. Heterogeneous charac-teristics of Korean patients with dysferlinopathy. J Korean Med Sci. 2012;27(4):423-429.
-
(2012)
J Korean Med Sci.
, vol.27
, Issue.4
, pp. 423-429
-
-
Park, H.J.1
Hong, J.M.2
Suh, G.I.3
-
52
-
-
67650573174
-
Novel DYSF mutations in Thai patients with distal myopathy
-
Liewluck T, Pongpakdee S, Witoonpanich R, et al. Novel DYSF mutations in Thai patients with distal myopathy. Clin Neurol Neurosurg. 2009;111(7):613-618.
-
(2009)
Clin Neurol Neurosurg.
, vol.111
, Issue.7
, pp. 613-618
-
-
Liewluck, T.1
Pongpakdee, S.2
Witoonpanich, R.3
-
53
-
-
17644430614
-
Clinical, patholog-ical, and genetic features of limb-girdle muscular dystro-phy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families
-
Kawai H, Akaike M, Kunishige M, et al. Clinical, patholog-ical, and genetic features of limb-girdle muscular dystro-phy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families. Muscle Nerve. 1998;21(11):1493-1501.
-
(1998)
Muscle Nerve.
, vol.21
, Issue.11
, pp. 1493-1501
-
-
Kawai, H.1
Akaike, M.2
Kunishige, M.3
-
54
-
-
0033582745
-
Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: From LGMD2A to LGMD2G
-
Passos-Bueno MR, Vainzof M, Moreira ES, et al. Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G. Am J Med Genet. 1999;82(5):392-398.
-
(1999)
Am J Med Genet.
, vol.82
, Issue.5
, pp. 392-398
-
-
Passos-Bueno, M.R.1
Vainzof, M.2
Moreira, E.S.3
-
55
-
-
40449085244
-
Dysferlin deficiency enhances monocyte phagocytosis: A model for the inflammatory onset of limb-girdle muscular dystrophy 2B
-
Nagaraju K, Rawat R, Veszelovszky E, et al. Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B. Am J Pathol. 2008;172(3):774-785.
-
(2008)
Am J Pathol.
, vol.172
, Issue.3
, pp. 774-785
-
-
Nagaraju, K.1
Rawat, R.2
Veszelovszky, E.3
-
56
-
-
0028815983
-
Identification of macrophages in the muscle biopsy preparations: A comparative study using spe-cific monoclonal antimacrophage antibodies and acid phos-phatase reaction
-
Drosos AA, Dalakas MC. Identification of macrophages in the muscle biopsy preparations: a comparative study using spe-cific monoclonal antimacrophage antibodies and acid phos-phatase reaction. Muscle Nerve. 1995;18(2):242-244.
-
(1995)
Muscle Nerve.
, vol.18
, Issue.2
, pp. 242-244
-
-
Drosos, A.A.1
Dalakas, M.C.2
-
57
-
-
12144287801
-
Muscle inflam-mation and MHC class I up-regulation in muscular dy-strophy with lack of dysferlin: An immunopathological study
-
Confalonieri P, Oliva L, Andreetta F, et al. Muscle inflam-mation and MHC class I up-regulation in muscular dy-strophy with lack of dysferlin: an immunopathological study. J Neuroimmunol. 2003;142(1-2):130-136.
-
(2003)
J Neuroimmunol.
, vol.142
, Issue.1-2
, pp. 130-136
-
-
Confalonieri, P.1
Oliva, L.2
Andreetta, F.3
-
58
-
-
84858734537
-
Calpain 3 is im-portant for muscle regeneration: Evidence from patients with limb girdle muscular dystrophies
-
Hauerslev S, Sveen ML, Duno M, et al. Calpain 3 is im-portant for muscle regeneration: evidence from patients with limb girdle muscular dystrophies. BMC Musculoskelet Disord. 2012;13:43.
-
(2012)
BMC Musculoskelet Disord.
, vol.13
, pp. 43
-
-
Hauerslev, S.1
Sveen, M.L.2
Duno, M.3
-
59
-
-
84862176451
-
Muscle membrane repair and inflammatory attack in dysferlinopathy
-
Han R. Muscle membrane repair and inflammatory attack in dysferlinopathy. Skelet Muscle. 2011;1(1):10.
-
(2011)
Skelet Muscle.
, vol.1
, Issue.1
, pp. 10
-
-
Han, R.1
-
60
-
-
0035313709
-
Mutations in the caveolin-3 gene: When are they pathogenic?
-
de Paula F, Vainzof M, Bernardino AL, et al. Mutations in the caveolin-3 gene: When are they pathogenic? Am J Med Genet. 2001;99(4):303-307.
-
(2001)
Am J Med Genet.
, vol.99
, Issue.4
, pp. 303-307
-
-
de Paula, F.1
Vainzof, M.2
Bernardino, A.L.3
-
61
-
-
84859631067
-
th Annual Dysferlin Conference 11-14 July 2011, Chicago, Illinois, USA
-
th Annual Dysferlin Conference 11-14 July 2011, Chicago, Illinois, USA. Neuromuscul Disord. 2012;22(5):471-477.
-
(2012)
Neuromuscul Disord.
, vol.22
, Issue.5
, pp. 471-477
-
-
Albrecht, D.E.1
Rufibach, L.E.2
Williams, B.A.3
-
62
-
-
77952502008
-
Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer
-
Lostal W, Bartoli M, Bourg N, et al. Efficient recovery of dysferlin deficiency by dual adeno-associated vector-mediated gene transfer. Hum Mol Genet. 2010;19(10): 1897-1907.
-
(2010)
Hum Mol Genet.
, vol.19
, Issue.10
, pp. 1897-1907
-
-
Lostal, W.1
Bartoli, M.2
Bourg, N.3
-
64
-
-
84907135600
-
Science and art in preparing tissues embedded in plastic for light microscopy, with special reference to glycol methacrylate, glass knives and simple stains
-
Bennett HS, Wyrick AD, Lee SW, et al. Science and art in preparing tissues embedded in plastic for light microscopy, with special reference to glycol methacrylate, glass knives and simple stains. Stain Technol. 1976;51(2):71-97.
-
(1976)
Stain Technol.
, vol.51
, Issue.2
, pp. 71-97
-
-
Bennett, H.S.1
Wyrick, A.D.2
Lee, S.W.3
-
65
-
-
22244483775
-
Technical aspects of immunohistoche-mistry
-
Ramos-Vara JA. Technical aspects of immunohistoche-mistry. Vet Pathol. 2005;42(4):405-426.
-
(2005)
Vet Pathol.
, vol.42
, Issue.4
, pp. 405-426
-
-
Ramos-Vara, J.A.1
-
66
-
-
67649216929
-
Imaging systems for westerns: Chemiluminescence vs. infrared detection
-
Mathews ST, Plaisance EP, Kim T. Imaging systems for westerns: chemiluminescence vs. infrared detection. Me-thods Mol Biol. 2009;536:499-513.
-
(2009)
Me-thods Mol Biol.
, vol.536
, pp. 499-513
-
-
Mathews, S.T.1
Plaisance, E.P.2
Kim, T.3
-
67
-
-
84875228632
-
Clinical features and a mutation with late onset of limb girdle muscular dystro-phy 2B
-
Takahashi T, Aoki M, Suzuki N, et al. Clinical features and a mutation with late onset of limb girdle muscular dystro-phy 2B. J Neurol Neurosurg Psychiatry. 2013;84(4):433-440.
-
(2013)
J Neurol Neurosurg Psychiatry.
, vol.84
, Issue.4
, pp. 433-440
-
-
Takahashi, T.1
Aoki, M.2
Suzuki, N.3
-
68
-
-
81455134409
-
Dysferlinopathy course and sportive activity: Clues for possible treatment
-
Angelini C, Peterle E, Gaiani A, et al. Dysferlinopathy course and sportive activity: clues for possible treatment. Acta Myol. 2011;30(2):127-132.
-
(2011)
Acta Myol.
, vol.30
, Issue.2
, pp. 127-132
-
-
Angelini, C.1
Peterle, E.2
Gaiani, A.3
|