-
1
-
-
79951941623
-
Myofibrillar myopathies
-
D. Selcen Myofibrillar myopathies Neuromuscul Disord 21 2011 161 171
-
(2011)
Neuromuscul Disord
, vol.21
, pp. 161-171
-
-
Selcen, D.1
-
2
-
-
84883771822
-
Myofibrillar myopathy
-
(Updated) Copyright University of Washington, Seattle last revised July 27, 2010
-
D. Selcen, A.G. Engel Myofibrillar myopathy (Updated) GeneReviews 19972012 Copyright University of Washington, Seattle http://www.ncbi.nlm.nih. gov/books/NBK1499 last revised July 27, 2010
-
(1997)
GeneReviews
-
-
Selcen, D.1
Engel, A.G.2
-
3
-
-
79960928910
-
Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy
-
M. Oliv, Z. Odgerel, A. Martnez, J.J. Poza, F.G. Bragado, R.J. Zabalza, I. Jericó, L. Gonzalez-Mera, A. Shatunov, H.S. Lee, J. Armstrong, E. Marav, M.R. Arroyo, J. Pascual-Calvet, C. Navarro, C. Paradas, M. Huerta, F. Marquez, E.G. Rivas, A. Pou, I. Ferrer, L.G. Goldfarb Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy Neuromuscul Disord 21 2011 533 542
-
(2011)
Neuromuscul Disord
, vol.21
, pp. 533-542
-
-
Oliv, M.1
Odgerel, Z.2
Martnez, A.3
Poza, J.J.4
Bragado, F.G.5
Zabalza, R.J.6
Jericó, I.7
Gonzalez-Mera, L.8
Shatunov, A.9
Lee, H.S.10
Armstrong, J.11
Marav, E.12
Arroyo, M.R.13
Pascual-Calvet, J.14
Navarro, C.15
Paradas, C.16
Huerta, M.17
Marquez, F.18
Rivas, E.G.19
Pou, A.20
Ferrer, I.21
Goldfarb, L.G.22
more..
-
4
-
-
0344759163
-
Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy
-
P. Salmikangas, O.M. Mykknen, M. Grnholm, L. Heiska, J. Kere, O. Carpén Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy Hum Mol Genet 8 1999 1329 1336
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1329-1336
-
-
Salmikangas, P.1
Mykknen, O.M.2
Grnholm, M.3
Heiska, L.4
Kere, J.5
Carpén, O.6
-
5
-
-
0034618039
-
Characterization of palladin, a novel protein localized to stress fibers and cell adhesions
-
M.M. Parast, C.A. Otey Characterization of palladin, a novel protein localized to stress fibers and cell adhesions J Cell Biol 150 2000 643 656
-
(2000)
J Cell Biol
, vol.150
, pp. 643-656
-
-
Parast, M.M.1
Otey, C.A.2
-
6
-
-
0035158532
-
Characterization of human palladin, a microfilament-associated protein
-
O.M. Mykknen, M. Grnholm, M. Rnty, M. Lalowski, P. Salmikangas, H. Suila, O. Carpén Characterization of human palladin, a microfilament-associated protein Mol Biol Cell 12 2001 3060 3073
-
(2001)
Mol Biol Cell
, vol.12
, pp. 3060-3073
-
-
Mykknen, O.M.1
Grnholm, M.2
Rnty, M.3
Lalowski, M.4
Salmikangas, P.5
Suila, H.6
Carpén, O.7
-
7
-
-
0035897410
-
Myopalladin, a novel 145-kilodalton sarcomeric protein with multiple roles in Z-disc and I-band protein assemblies
-
M.L. Bang, R.E. Mudry, A.S. McElhinny, K. Trombitas, A.J. Geach, R. Yamasaki, H. Sorimachi, H. Granzier, C.C. Gregorio, S. Labeit Myopalladin, a novel 145-kilodalton sarcomeric protein with multiple roles in Z-disc and I-band protein assemblies J Cell Biol 153 2001 413 427
-
(2001)
J Cell Biol
, vol.153
, pp. 413-427
-
-
Bang, M.L.1
Mudry, R.E.2
McElhinny, A.S.3
Trombitas, K.4
Geach, A.J.5
Yamasaki, R.6
Sorimachi, H.7
Granzier, H.8
Gregorio, C.C.9
Labeit, S.10
-
8
-
-
0034776199
-
Telethonin and other new proteins of the Z-disc of skeletal muscle
-
G. Faulkner, G. Lanfranchi, G. Valle Telethonin and other new proteins of the Z-disc of skeletal muscle IUBMB Life 51 2001 275 282
-
(2001)
IUBMB Life
, vol.51
, pp. 275-282
-
-
Faulkner, G.1
Lanfranchi, G.2
Valle, G.3
-
9
-
-
33744494538
-
The sarcomeric Z-disc: A nodal point in signalling and disease
-
D. Frank, C. Kuhn, H.A. Katus, N. Frey The sarcomeric Z-disc: a nodal point in signalling and disease J Mol Med (Berl) 84 2006 446 468
-
(2006)
J Mol Med (Berl)
, vol.84
, pp. 446-468
-
-
Frank, D.1
Kuhn, C.2
Katus, H.A.3
Frey, N.4
-
10
-
-
0034675887
-
Indications for a novel muscular dystrophy pathway gamma-Filamin, the muscle-specific filamin isoform, interacts with myotilin
-
P.F. van der Ven, S. Wiesner, P. Salmikangas, D. Auerbach, M. Himmel, S. Kempa, K. Hayess, D. Pacholsky, A. Taivainen, R. Schrder, O. Carpén, D.O. Frst Indications for a novel muscular dystrophy pathway gamma-Filamin, the muscle-specific filamin isoform, interacts with myotilin J Cell Biol 151 2000 235 248
-
(2000)
J Cell Biol
, vol.151
, pp. 235-248
-
-
Van Der Ven, P.F.1
Wiesner, S.2
Salmikangas, P.3
Auerbach, D.4
Himmel, M.5
Kempa, S.6
Hayess, K.7
Pacholsky, D.8
Taivainen, A.9
Schrder, R.10
Carpén, O.11
Frst, D.O.12
-
11
-
-
24944550989
-
The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins
-
Y. Gontier, A. Taivainen, L. Fontao, A. Sonnenberg, A. van der Flier, O. Carpen, G. Faulkner, L. Borradori The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins J Cell Sci 118 2005 3739 3749
-
(2005)
J Cell Sci
, vol.118
, pp. 3739-3749
-
-
Gontier, Y.1
Taivainen, A.2
Fontao, L.3
Sonnenberg, A.4
Van Der Flier, A.5
Carpen, O.6
Faulkner, G.7
Borradori, L.8
-
12
-
-
59249091710
-
A class III PDZ binding motif in the myotilin and FATZ families binds enigma family proteins: A common link for Z-disc myopathies
-
P. von Nandelstadh, M. Ismail, C. Gardin, H. Suila, I. Zara, A. Belgrano, G. Valle, O. Carpen, G. Faulkner A class III PDZ binding motif in the myotilin and FATZ families binds enigma family proteins: a common link for Z-disc myopathies Mol Cell Biol 29 2009 822 834
-
(2009)
Mol Cell Biol
, vol.29
, pp. 822-834
-
-
Von Nandelstadh, P.1
Ismail, M.2
Gardin, C.3
Suila, H.4
Zara, I.5
Belgrano, A.6
Valle, G.7
Carpen, O.8
Faulkner, G.9
-
13
-
-
20544438018
-
MURF-1 and MURF-2 target a specific subset of myofibrillar proteins redundantly: Towards understanding MURF-dependent muscle ubiquitination
-
S.H. Witt, H. Granzier, C.C. Witt, S. Labeit MURF-1 and MURF-2 target a specific subset of myofibrillar proteins redundantly: towards understanding MURF-dependent muscle ubiquitination J Mol Biol 350 2005 713 722
-
(2005)
J Mol Biol
, vol.350
, pp. 713-722
-
-
Witt, S.H.1
Granzier, H.2
Witt, C.C.3
Labeit, S.4
-
14
-
-
0037439275
-
Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly
-
P. Salmikangas, P.F. van der Ven, M. Lalowski, A. Taivainen, F. Zhao, H. Suila, R. Schrder, P. Lappalainen, D.O. Frst, O. Carpén Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly Hum Mol Genet 12 2003 189 203
-
(2003)
Hum Mol Genet
, vol.12
, pp. 189-203
-
-
Salmikangas, P.1
Van Der Ven, P.F.2
Lalowski, M.3
Taivainen, A.4
Zhao, F.5
Suila, H.6
Schrder, R.7
Lappalainen, P.8
Frst, D.O.9
Carpén, O.10
-
15
-
-
25844491047
-
Actin-organising properties of the muscular dystrophy protein myotilin
-
P. von Nandelstadh, M. Grnholm, M. Moza, A. Lamberg, H. Savilahti, O. Carpén Actin-organising properties of the muscular dystrophy protein myotilin Exp Cell Res 310 2005 131 139
-
(2005)
Exp Cell Res
, vol.310
, pp. 131-139
-
-
Von Nandelstadh, P.1
Grnholm, M.2
Moza, M.3
Lamberg, A.4
Savilahti, H.5
Carpén, O.6
-
16
-
-
53549117700
-
Myofibrillar myopathies
-
D. Selcen Myofibrillar myopathies Curr Opin Neurol 21 2008 585 589
-
(2008)
Curr Opin Neurol
, vol.21
, pp. 585-589
-
-
Selcen, D.1
-
17
-
-
26044435388
-
Myotilinopathy: Refining the clinical and myopathological phenotype
-
M. Olivé, L.G. Goldfarb, A. Shatunov, D. Fischer, I. Ferrer Myotilinopathy: refining the clinical and myopathological phenotype Brain 128 2005 2315 2326
-
(2005)
Brain
, vol.128
, pp. 2315-2326
-
-
Olivé, M.1
Goldfarb, L.G.2
Shatunov, A.3
Fischer, D.4
Ferrer, I.5
-
18
-
-
33645650403
-
A mutation in myotilin causes spheroid body myopathy
-
T. Foroud, N. Pankratz, A.P. Batchman, M.W. Pauciulo, R. Vidal, L. Miravalle, H.H. Goebel, L.J. Cushman, B. Azzarelli, H. Horak, M. Farlow, W.C. Nichols A mutation in myotilin causes spheroid body myopathy Neurology 65 2005 1936 1940
-
(2005)
Neurology
, vol.65
, pp. 1936-1940
-
-
Foroud, T.1
Pankratz, N.2
Batchman, A.P.3
Pauciulo, M.W.4
Vidal, R.5
Miravalle, L.6
Goebel, H.H.7
Cushman, L.J.8
Azzarelli, B.9
Horak, H.10
Farlow, M.11
Nichols, W.C.12
-
19
-
-
0036916438
-
Myotilin mutation found in second pedigree with LGMD1A
-
M.A. Hauser, C.B. Conde, V. Kowaljow, G. Zeppa, A.L. Taratuto, U.M. Torian, J. Vance, M.A. Pericak-Vance, M.C. Speer, A.L. Rosa Myotilin mutation found in second pedigree with LGMD1A Am J Hum Genet 71 2002 1428 1432
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1428-1432
-
-
Hauser, M.A.1
Conde, C.B.2
Kowaljow, V.3
Zeppa, G.4
Taratuto, A.L.5
Torian, U.M.6
Vance, J.7
Pericak-Vance, M.A.8
Speer, M.C.9
Rosa, A.L.10
-
20
-
-
0034284682
-
Myotilin is mutated in limb girdle muscular dystrophy 1A
-
M.A. Hauser, S.K. Horrigan, P. Salmikangas, U.M. Torian, K.D. Viles, R. Dancel, R.W. Tim, A. Taivainen, L. Bartoloni, J.M. Gilchrist, J.M. Stajich, P.C. Gaskell, J.R. Gilbert, J.M. Vance, M.A. Pericak-Vance, O. Carpen, C.A. Westbrook, M.C. Speer Myotilin is mutated in limb girdle muscular dystrophy 1A Hum Mol Genet 9 2000 2141 2147
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2141-2147
-
-
Hauser, M.A.1
Horrigan, S.K.2
Salmikangas, P.3
Torian, U.M.4
Viles, K.D.5
Dancel, R.6
Tim, R.W.7
Taivainen, A.8
Bartoloni, L.9
Gilchrist, J.M.10
Stajich, J.M.11
Gaskell, P.C.12
Gilbert, J.R.13
Vance, J.M.14
Pericak-Vance, M.A.15
Carpen, O.16
Westbrook, C.A.17
Speer, M.C.18
-
21
-
-
33746222864
-
Myotilinopathy in a family with late onset myopathy
-
I. Penisson-Besnier, K. Talvinen, C. Dumez, A. Vihola, F. Dubas, M. Fardeau, P. Hackman, O. Carpen, B. Udd Myotilinopathy in a family with late onset myopathy Neuromuscul Disord 16 2006 427 431
-
(2006)
Neuromuscul Disord
, vol.16
, pp. 427-431
-
-
Penisson-Besnier, I.1
Talvinen, K.2
Dumez, C.3
Vihola, A.4
Dubas, F.5
Fardeau, M.6
Hackman, P.7
Carpen, O.8
Udd, B.9
-
22
-
-
38849153695
-
Autosomal-dominant distal myopathy with a myotilin S55F mutation: Sorting out the phenotype
-
J. Berciano, E. Gallardo, R. Dominguez-Perles, A. Garcia, R. Garcia-Barredo, O. Combarros, J. Infante, I. Illa Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype J Neurol Neurosurg Psychiatry 79 2008 205 208
-
(2008)
J Neurol Neurosurg Psychiatry
, vol.79
, pp. 205-208
-
-
Berciano, J.1
Gallardo, E.2
Dominguez-Perles, R.3
Garcia, A.4
Garcia-Barredo, R.5
Combarros, O.6
Infante, J.7
Illa, I.8
-
23
-
-
67649413408
-
Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient
-
S. Shalaby, H. Mitsuhashi, C. Matsuda, N. Minami, S. Noguchi, I. Nonaka, I. Nishino, Y.K. Hayashi Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient J Neuropathol Exp Neurol 68 2009 701 707
-
(2009)
J Neuropathol Exp Neurol
, vol.68
, pp. 701-707
-
-
Shalaby, S.1
Mitsuhashi, H.2
Matsuda, C.3
Minami, N.4
Noguchi, S.5
Nonaka, I.6
Nishino, I.7
Hayashi, Y.K.8
-
24
-
-
79961028072
-
A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A)
-
P. Reilich, S. Krause, N. Schramm, U. Klutzny, S. Bulst, B. Zehetmayer, P. Schneiderat, M.C. Walter, B. Schoser, H. Lochmller A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A) J Neurol 258 2011 1437 1444
-
(2011)
J Neurol
, vol.258
, pp. 1437-1444
-
-
Reilich, P.1
Krause, S.2
Schramm, N.3
Klutzny, U.4
Bulst, S.5
Zehetmayer, B.6
Schneiderat, P.7
Walter, M.C.8
Schoser, B.9
Lochmller, H.10
-
25
-
-
51349101743
-
A missense mutation in desmin tail domain linked to human dilated cardiomyopathy promotes cleavage of the head domain and abolishes its Z-disc localization
-
M. Mavroidis, P. Panagopoulou, I. Kostavasili, N. Weisleder, Y. Capetanaki A missense mutation in desmin tail domain linked to human dilated cardiomyopathy promotes cleavage of the head domain and abolishes its Z-disc localization FASEB J 22 2008 3318 3327
-
(2008)
FASEB J
, vol.22
, pp. 3318-3327
-
-
Mavroidis, M.1
Panagopoulou, P.2
Kostavasili, I.3
Weisleder, N.4
Capetanaki, Y.5
-
26
-
-
0035816115
-
Expression of R120G-alphaB-crystallin causes aberrant desmin and alphaB-crystallin aggregation and cardiomyopathy in mice
-
X. Wang, H. Osinska, R. Klevitsky, A.M. Gerdes, M. Nieman, J. Lorenz, T. Hewett, J. Robbins Expression of R120G-alphaB-crystallin causes aberrant desmin and alphaB-crystallin aggregation and cardiomyopathy in mice Circ Res 89 2001 84 91
-
(2001)
Circ Res
, vol.89
, pp. 84-91
-
-
Wang, X.1
Osinska, H.2
Klevitsky, R.3
Gerdes, A.M.4
Nieman, M.5
Lorenz, J.6
Hewett, T.7
Robbins, J.8
-
27
-
-
14344283370
-
Mouse model of desmin-related cardiomyopathy
-
X. Wang, H. Osinska, G.W. Dorn 2nd, M. Nieman, J.N. Lorenz, A.M. Gerdes, S. Witt, T. Kimball, J. Gulick, J. Robbins Mouse model of desmin-related cardiomyopathy Circulation 103 2001 2402 2407
-
(2001)
Circulation
, vol.103
, pp. 2402-2407
-
-
Wang, X.1
Osinska, H.2
Dorn II, G.W.3
Nieman, M.4
Lorenz, J.N.5
Gerdes, A.M.6
Witt, S.7
Kimball, T.8
Gulick, J.9
Robbins, J.10
-
28
-
-
33747884386
-
Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM
-
S.M. Garvey, S.E. Miller, D.R. Claflin, J.A. Faulkner, M.A. Hauser Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM Hum Mol Genet 15 2006 2348 2362
-
(2006)
Hum Mol Genet
, vol.15
, pp. 2348-2362
-
-
Garvey, S.M.1
Miller, S.E.2
Claflin, D.R.3
Faulkner, J.A.4
Hauser, M.A.5
-
29
-
-
70349195987
-
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy
-
Y.K. Hayashi, C. Matsuda, M. Ogawa, K. Goto, K. Tominaga, S. Mitsuhashi, Y.E. Park, I. Nonaka, N. Hino-Fukuyo, K. Haginoya, H. Sugano, I. Nishino Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy J Clin Invest 119 2009 2623 2633
-
(2009)
J Clin Invest
, vol.119
, pp. 2623-2633
-
-
Hayashi, Y.K.1
Matsuda, C.2
Ogawa, M.3
Goto, K.4
Tominaga, K.5
Mitsuhashi, S.6
Park, Y.E.7
Nonaka, I.8
Hino-Fukuyo, N.9
Haginoya, K.10
Sugano, H.11
Nishino, I.12
-
30
-
-
0034627825
-
Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein
-
T.G. Thompson, Y.M. Chan, A.A. Hack, M. Brosius, M. Rajala, H.G. Lidov, E.M. McNally, S. Watkins, L.M. Kunkel Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein J Cell Biol 148 2000 115 126
-
(2000)
J Cell Biol
, vol.148
, pp. 115-126
-
-
Thompson, T.G.1
Chan, Y.M.2
Hack, A.A.3
Brosius, M.4
Rajala, M.5
Lidov, H.G.6
McNally, E.M.7
Watkins, S.8
Kunkel, L.M.9
-
31
-
-
66949173652
-
Myofibrillar myopathies: A clinical and myopathological guide
-
R. Schrder, B. Schoser Myofibrillar myopathies: a clinical and myopathological guide Brain Pathol 19 2009 483 492
-
(2009)
Brain Pathol
, vol.19
, pp. 483-492
-
-
Schrder, R.1
Schoser, B.2
-
32
-
-
33644883329
-
Impairment of the ubiquitin-proteasome system in desminopathy mouse hearts
-
J. Liu, Q. Chen, W. Huang, K.M. Horak, H. Zheng, R. Mestril, X. Wang Impairment of the ubiquitin-proteasome system in desminopathy mouse hearts FASEB J 20 2006 362 364
-
(2006)
FASEB J
, vol.20
, pp. 362-364
-
-
Liu, J.1
Chen, Q.2
Huang, W.3
Horak, K.M.4
Zheng, H.5
Mestril, R.6
Wang, X.7
-
33
-
-
33645055949
-
Aberrant protein aggregation is essential for a mutant desmin to impair the proteolytic function of the ubiquitin-proteasome system in cardiomyocytes
-
J. Liu, M. Tang, R. Mestril, X. Wang Aberrant protein aggregation is essential for a mutant desmin to impair the proteolytic function of the ubiquitin-proteasome system in cardiomyocytes J Mol Cell Cardiol 40 2006 451 454
-
(2006)
J Mol Cell Cardiol
, vol.40
, pp. 451-454
-
-
Liu, J.1
Tang, M.2
Mestril, R.3
Wang, X.4
-
34
-
-
0742305818
-
Myofibrillar myopathy: Clinical, morphological and genetic studies in 63 patients
-
D. Selcen, K. Ohno, A.G. Engel Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients Brain 127 2004 439 451
-
(2004)
Brain
, vol.127
, pp. 439-451
-
-
Selcen, D.1
Ohno, K.2
Engel, A.G.3
-
35
-
-
48749104264
-
Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene
-
K.G. Claeys, M. Fardeau, R. Schrder, T. Suominen, K. Tolksdorf, A. Behin, O. Dubourg, B. Eymard, T. Maisonobe, T. Stojkovic, G. Faulkner, P. Richard, P. Vicart, B. Udd, T. Voit, G. Stoltenburg Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene Neuromuscul Disord 18 2008 656 666
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 656-666
-
-
Claeys, K.G.1
Fardeau, M.2
Schrder, R.3
Suominen, T.4
Tolksdorf, K.5
Behin, A.6
Dubourg, O.7
Eymard, B.8
Maisonobe, T.9
Stojkovic, T.10
Faulkner, G.11
Richard, P.12
Vicart, P.13
Udd, B.14
Voit, T.15
Stoltenburg, G.16
-
36
-
-
61349154811
-
Differential involvement of sarcomeric proteins in myofibrillar myopathies: A morphological and immunohistochemical study
-
K.G. Claeys, P.F. van der Ven, A. Behin, T. Stojkovic, B. Eymard, O. Dubourg, P. Laforêt, G. Faulkner, P. Richard, P. Vicart, N.B. Romero, G. Stoltenburg, B. Udd, M. Fardeau, T. Voit, D.O. Frst Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study Acta Neuropathol 117 2009 293 307
-
(2009)
Acta Neuropathol
, vol.117
, pp. 293-307
-
-
Claeys, K.G.1
Van Der Ven, P.F.2
Behin, A.3
Stojkovic, T.4
Eymard, B.5
Dubourg, O.6
Laforêt, P.7
Faulkner, G.8
Richard, P.9
Vicart, P.10
Romero, N.B.11
Stoltenburg, G.12
Udd, B.13
Fardeau, M.14
Voit, T.15
Frst, D.O.16
-
37
-
-
66949120632
-
Extralysosomal protein degradation in myofibrillar myopathies
-
M. Olivé Extralysosomal protein degradation in myofibrillar myopathies Brain Pathol 19 2009 507 515
-
(2009)
Brain Pathol
, vol.19
, pp. 507-515
-
-
Olivé, M.1
-
38
-
-
35148847303
-
Oxidative stress in desminopathies and myotilinopathies: A link between oxidative damage and abnormal protein aggregation
-
A. Janué, M. Olivé, I. Ferrer Oxidative stress in desminopathies and myotilinopathies: a link between oxidative damage and abnormal protein aggregation Brain Pathol 17 2007 377 388
-
(2007)
Brain Pathol
, vol.17
, pp. 377-388
-
-
Janué, A.1
Olivé, M.2
Ferrer, I.3
-
39
-
-
0031932169
-
Protein aggregation: Folding aggregates, inclusion bodies and amyloid
-
A.L. Fink Protein aggregation: folding aggregates, inclusion bodies and amyloid Fold Des 3 1998 R9 R23
-
(1998)
Fold des
, vol.3
-
-
Fink, A.L.1
-
40
-
-
0034578389
-
Aggresomes, inclusion bodies and protein aggregation
-
R.R. Kopito Aggresomes, inclusion bodies and protein aggregation Trends Cell Biol 10 2000 524 530
-
(2000)
Trends Cell Biol
, vol.10
, pp. 524-530
-
-
Kopito, R.R.1
-
41
-
-
3142514201
-
Protein aggregation and neurodegenerative disease
-
C.A. Ross, M.A. Poirier Protein aggregation and neurodegenerative disease Nat Med 10 2004 S10 S17
-
(2004)
Nat Med
, vol.10
-
-
Ross, C.A.1
Poirier, M.A.2
-
42
-
-
79955527259
-
Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations
-
P. von Nandelstadh, R. Soliymani, M. Baumann, O. Carpen Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations Biochem J 436 2011 113 121
-
(2011)
Biochem J
, vol.436
, pp. 113-121
-
-
Von Nandelstadh, P.1
Soliymani, R.2
Baumann, M.3
Carpen, O.4
-
44
-
-
17344361902
-
A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy
-
P. Vicart, A. Caron, P. Guicheney, Z. Li, M.C. Prévost, A. Faure, D. Chateau, F. Chapon, F. Tomé, J.M. Dupret, D. Paulin, M. Fardeau A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy Nat Genet 20 1998 92 95
-
(1998)
Nat Genet
, vol.20
, pp. 92-95
-
-
Vicart, P.1
Caron, A.2
Guicheney, P.3
Li, Z.4
Prévost, M.C.5
Faure, A.6
Chateau, D.7
Chapon, F.8
Tomé, F.9
Dupret, J.M.10
Paulin, D.11
Fardeau, M.12
-
45
-
-
60849131479
-
Mutation in BAG3 causes severe dominant childhood muscular dystrophy
-
D. Selcen, F. Muntoni, B.K. Burton, E. Pegoraro, C. Sewry, A.V. Bite, A.G. Engel Mutation in BAG3 causes severe dominant childhood muscular dystrophy Ann Neurol 65 2009 83 89
-
(2009)
Ann Neurol
, vol.65
, pp. 83-89
-
-
Selcen, D.1
Muntoni, F.2
Burton, B.K.3
Pegoraro, E.4
Sewry, C.5
Bite, A.V.6
Engel, A.G.7
-
46
-
-
70949089388
-
Disease mutations in the "head" domain of the extra-sarcomeric protein desmin distinctly alter its assembly and network-forming properties
-
S. Sharma, N. Mcke, H.A. Katus, H. Herrmann, H. Br Disease mutations in the "head" domain of the extra-sarcomeric protein desmin distinctly alter its assembly and network-forming properties J Mol Med (Berl) 87 2009 1207 1219
-
(2009)
J Mol Med (Berl)
, vol.87
, pp. 1207-1219
-
-
Sharma, S.1
McKe, N.2
Katus, H.A.3
Herrmann, H.4
Br, H.5
-
47
-
-
33646144211
-
Forced expression of desmin and desmin mutants in cultured cells: Impact of myopathic missense mutations in the central coiled-coil domain on network formation
-
H. Br, A. Kostareva, G. Sjberg, T. Sejersen, H.A. Katus, H. Herrmann Forced expression of desmin and desmin mutants in cultured cells: impact of myopathic missense mutations in the central coiled-coil domain on network formation Exp Cell Res 312 2006 1554 1565
-
(2006)
Exp Cell Res
, vol.312
, pp. 1554-1565
-
-
Br, H.1
Kostareva, A.2
Sjberg, G.3
Sejersen, T.4
Katus, H.A.5
Herrmann, H.6
-
48
-
-
0032586878
-
Mutation R120G in alphaB-crystallin, which is linked to a desmin-related myopathy, results in an irregular structure and defective chaperone-like function
-
M.P. Bova, O. Yaron, Q. Huang, L. Ding, D.A. Haley, P.L. Stewart, J. Horwitz Mutation R120G in alphaB-crystallin, which is linked to a desmin-related myopathy, results in an irregular structure and defective chaperone-like function Proc Natl Acad Sci USA 96 1999 6137 6142
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 6137-6142
-
-
Bova, M.P.1
Yaron, O.2
Huang, Q.3
Ding, L.4
Haley, D.A.5
Stewart, P.L.6
Horwitz, J.7
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