-
1
-
-
0029875349
-
Myofibrillar myopathy with abnormal foci of desmin positivity. 1. Light and electron microscopy analysis of 10 cases
-
Nakano S, Engel AG, Waclawik AJ, et al. Myofibrillar myopathy with abnormal foci of desmin positivity. 1. Light and electron microscopy analysis of 10 cases. J Neuropathol Exp Neurol 1996; 55:549-562.
-
(1996)
J Neuropathol Exp Neurol
, vol.55
, pp. 549-562
-
-
Nakano, S.1
Engel, A.G.2
Waclawik, A.J.3
-
2
-
-
79951941623
-
Myofibrillar myopathies
-
Selcen D. Myofibrillar myopathies. Neuromuscul Disord 2011; 21:161-171.
-
(2011)
Neuromuscul Disord
, vol.21
, pp. 161-171
-
-
Selcen, D.1
-
3
-
-
66949127880
-
Protein aggregate myopathies
-
Goebel HH. Protein aggregate myopathies. Introduction. Brain Pathol 2009; 19:480-482.
-
(2009)
Introduction. Brain Pathol
, vol.19
, pp. 480-482
-
-
Goebel, H.H.1
-
4
-
-
83455171579
-
Protein aggregation in congenital myopathies
-
Goebel HH, Blaschek A. Protein aggregation in congenital myopathies. Semin Pediatr Neurol 2011; 18:272-276.
-
(2011)
Semin Pediatr Neurol
, vol.18
, pp. 272-276
-
-
Goebel, H.H.1
Blaschek, A.2
-
5
-
-
84883771822
-
-
In: Pagon RA Bird TD Dolan CR et al. Editors. GeneReviewsTM [Internet]. Seattle WA: University Of Washington 1993-2003
-
Selcen D, Engel AG. Myofibrillar myopathy. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviewsTM [Internet]. Seattle, WA: University of Washington; 1993-2003.
-
Myofibrillar Myopathy
-
-
Selcen, D.1
Engel, A.G.2
-
6
-
-
51349145767
-
Molecular pathology of myofibrillar myopathies
-
Ferrer I, Olivé M. Molecular pathology of myofibrillar myopathies. Expert Rev Mol Med 2008; 10:e25.
-
(2008)
Expert Rev Mol Med
, vol.10
-
-
Ferrer, I.1
Olivé, M.2
-
7
-
-
66949173652
-
Myofibrillar myopathies: A clinical and myopathological guide
-
Schrö der R, Schoser B. Myofibrillar myopathies: A clinical and myopathological guide. Brain Pathol 2009; 19:483-492.
-
(2009)
Brain Pathol
, vol.19
, pp. 483-492
-
-
Schrö Der, R.1
Schoser, B.2
-
9
-
-
40549108276
-
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy
-
Schessl J, Zou Y, McGrath MJ, et al. Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy. J Clin Invest 2008; 118:904-912.
-
(2008)
J Clin Invest
, vol.118
, pp. 904-912
-
-
Schessl, J.1
Zou, Y.2
McGrath, M.J.3
-
13
-
-
79952736320
-
Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: A comprehensive review of the clinical, histological and pathological features
-
Cowling BS, Cottle DL, Wilding BR, et al. Four and a half LIM protein 1 gene mutations cause four distinct human myopathies: A comprehensive review of the clinical, histological and pathological features. Neuromuscul Disord 2011; 21:237-251.
-
(2011)
Neuromuscul Disord
, vol.21
, pp. 237-251
-
-
Cowling, B.S.1
Cottle, D.L.2
Wilding, B.R.3
-
14
-
-
38749121773
-
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1
-
Windpassinger C, Schoser B, Straub V, et al. An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. Am J Hum Genet 2008; 82:88-99.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 88-99
-
-
Windpassinger, C.1
Schoser, B.2
Straub, V.3
-
15
-
-
38749136299
-
X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1
-
Quinzii CM, Vu TH, Min KC, et al. X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. Am J Hum Genet 2008; 82:208-213.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 208-213
-
-
Quinzii, C.M.1
Vu, T.H.2
Min, K.C.3
-
16
-
-
56649092812
-
I Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1)
-
Shalaby S, Hayashi YK, Goto K, et al. I. Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1). Neuromuscul Disord 2008; 18:959-961.
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 959-961
-
-
Shalaby, S.1
Hayashi, Y.K.2
Goto, K.3
-
17
-
-
69749088309
-
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy
-
Gueneau L, Bertrand AT, Jais JP, et al. Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. Am J Hum Genet 2009; 85:338-353.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 338-353
-
-
Gueneau, L.1
Bertrand, A.T.2
Jais, J.P.3
-
18
-
-
84864004251
-
Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy
-
Friedrich FW, Wilding BR, Reischmann S, et al. Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy. Hum Mol Genet 2012; 21:3237-3254.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 3237-3254
-
-
Friedrich, F.W.1
Wilding, B.R.2
Reischmann, S.3
-
19
-
-
84876075887
-
Proteomic characterization of aggregate components in an intrafamilial variable FHL1-associated myopathy
-
Feldkirchner S, Walter MC, Müller S, et al. Proteomic characterization of aggregate components in an intrafamilial variable FHL1-associated myopathy. Neuromuscul Disord 2013; 23:418-426.
-
(2013)
Neuromuscul Disord
, vol.23
, pp. 418-426
-
-
Feldkirchner, S.1
Walter, M.C.2
Müller, S.3
-
20
-
-
0034821684
-
Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: A mixed congenital myopathy
-
Goebel HH, Halbig LE, Goldfarb L, et al. Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: A mixed congenital myopathy. Neuropediatrics 2001; 32:196-205.
-
(2001)
Neuropediatrics
, vol.32
, pp. 196-205
-
-
Goebel, H.H.1
Halbig, L.E.2
Goldfarb, L.3
-
21
-
-
82955228817
-
Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy
-
Selcen D, Bromberg MB, Chin SS, Engel AG. Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy. Neurology 1951; 77:9.
-
(1951)
Neurology
, vol.77
, pp. 9
-
-
Selcen, D.1
Bromberg, M.B.2
Chin, S.S.3
Engel, A.G.4
-
22
-
-
84871327279
-
Novel FHL1 mutation in a family with reducing body myopathy
-
Schreckenbach T, Henn W, Kress W, et al. Novel FHL1 mutation in a family with reducing body myopathy. Muscle Nerve 2013; 47:127-134.
-
(2013)
Muscle Nerve
, vol.47
, pp. 127-134
-
-
Schreckenbach, T.1
Henn, W.2
Kress, W.3
-
23
-
-
0025368639
-
Myopathy with respiratory failure and typical myofibrillar lesions
-
Edström L, Thornell LE, Albo J, et al. Myopathy with respiratory failure and typical myofibrillar lesions. J Neurol Sci 1990; 96:211-228.
-
(1990)
J Neurol Sci
, vol.96
, pp. 211-228
-
-
Edström, L.1
Thornell, L.E.2
Albo, J.3
-
24
-
-
20644440418
-
The kinase domain of titin controls muscle gene expression and protein turnover
-
Lange S, Xiang F, Yakovenko A, et al. The kinase domain of titin controls muscle gene expression and protein turnover. Science 2005; 308:1599-1603.
-
(2005)
Science
, vol.308
, pp. 1599-1603
-
-
Lange, S.1
Xiang, F.2
Yakovenko, A.3
-
25
-
-
84861563537
-
Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin
-
Ohlsson M, Hedberg C, Brädvik B, et al. Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin. Brain 2012; 135:1682-1694.
-
(2012)
Brain
, vol.135
, pp. 1682-1694
-
-
Ohlsson, M.1
Hedberg, C.2
Brädvik, B.3
-
26
-
-
84861557324
-
Titin mutation segregates with hereditary myopathy with early respiratory failure
-
Pfeffer G, Elliott HR, Griffin H, et al. Titin mutation segregates with hereditary myopathy with early respiratory failure. Brain 2012; 135:1695-1713.
-
(2012)
Brain
, vol.135
, pp. 1695-1713
-
-
Pfeffer, G.1
Elliott, H.R.2
Griffin, H.3
-
27
-
-
84896728430
-
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure
-
Epub ahead of print]
-
Pfeffer G, Barresi R, Wilson IJ, et al. Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. J Neurol Neurosurg Psychiatry 2013. [Epub ahead of print]
-
(2013)
J Neurol Neurosurg Psychiatry
-
-
Pfeffer, G.1
Barresi, R.2
Wilson, I.J.3
-
28
-
-
84878541658
-
Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure
-
Izumi R, Niihori T, Aoki Y, et al. Exome sequencing identifies a novel TTN mutation in a family with hereditary myopathy with early respiratory failure. J Hum Genet 2013; 58:259-266.
-
(2013)
J Hum Genet
, vol.58
, pp. 259-266
-
-
Izumi, R.1
Niihori, T.2
Aoki, Y.3
-
29
-
-
84875063943
-
Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure in families of diverse ethnic origins
-
Toro C, Olivé M, Dalakas M, et al. Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure in families of diverse ethnic origins. BMC Neurology 2013; 13:29-43.
-
(2013)
BMC Neurology
, vol.13
, pp. 29-43
-
-
Toro, C.1
Olivé, M.2
Dalakas, M.3
-
30
-
-
84896740436
-
Hereditary myopathy with early respiratory failure: Occurrence in various populations
-
Epub ahead of print]
-
Palmio J, Evilä A, Chapon F, et al. Hereditary myopathy with early respiratory failure: Occurrence in various populations. J Neurol Neurosurg Psychiatry 2013. [Epub ahead of print]
-
(2013)
J Neurol Neurosurg Psychiatry
-
-
Palmio, J.1
Evilä, A.2
Chapon, F.3
-
31
-
-
84871346337
-
Patient-specific protein aggregates in myofibrillar myopathies: Laser microdissection and differential proteomics for identification of plaque components
-
Feldkirchner S, Schessl J, Müller S, et al. Patient-specific protein aggregates in myofibrillar myopathies: Laser microdissection and differential proteomics for identification of plaque components. Proteomics 2012; 12:3598-3609.
-
(2012)
Proteomics
, vol.12
, pp. 3598-3609
-
-
Feldkirchner, S.1
Schessl, J.2
Müller, S.3
-
32
-
-
84871880606
-
Acombined laser microdissection andmass spectrometry approach reveals new disease relevant proteins accumulating in aggregates of filaminopathy patients
-
KleyRA,Maerkens A, Leber Y, et al.Acombined laser microdissection andmass spectrometry approach reveals new disease relevant proteins accumulating in aggregates of filaminopathy patients. Mol Cell Proteomics 2013; 12:215-227.
-
(2013)
Mol Cell Proteomics
, vol.12
, pp. 215-227
-
-
Kley, R.A.1
Maerkens, A.2
Leber, Y.3
-
33
-
-
84882686603
-
Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy
-
doi:10.1016/j.prot.2013.04.026. [Epub ahead of print]
-
Maerkens A, Kley RA, Olivé M, et al. Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy. J Proteomics 2013; doi:10.1016/j.prot.2013.04.026. [Epub ahead of print]
-
(2013)
J Proteomics
-
-
Maerkens, A.1
Kley, R.A.2
Olivé, M.3
-
34
-
-
17344373157
-
Missense mutations in desmin associated with familial cardiac and skeletal myopathy
-
Goldfarb LG, Park KY, Cervenakova L, et al. Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat Genet 1998; 19:402-403.
-
(1998)
Nat Genet
, vol.19
, pp. 402-403
-
-
Goldfarb, L.G.1
Park, K.Y.2
Cervenakova, L.3
-
35
-
-
0038669889
-
A dysfunctional desmin mutation in a patient with severe generalizad myopathy
-
Muñoz-Mármol AM, Strasser G, Isamat M, et al. A dysfunctional desmin mutation in a patient with severe generalizad myopathy. Proc Natl Acad Sci U S A 1998; 95:11312-11317.
-
(1998)
Proc Natl Acad Sci U S A
, vol.95
, pp. 11312-11317
-
-
Muñoz-Mármol, A.M.1
Strasser, G.2
Isamat, M.3
-
38
-
-
84866256105
-
Recurrent and founder mutations in the Netherlands: The cardiac phenotype of DES founder mutations p.S13F and p N342D
-
van Spaendonck-Zwarts KY, van der Kooi AJ, van den Berg MP, et al. Recurrent and founder mutations in the Netherlands: The cardiac phenotype of DES founder mutations p.S13F and p N342D. Neth Heart J 2012; 20:219-228.
-
(2012)
Neth Heart J
, vol.20
, pp. 219-228
-
-
Van Spaendonck-Zwarts, K.Y.1
Van Der Kooi, A.J.2
Van Den Berg, M.P.3
-
39
-
-
84858082659
-
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: A 10-year longitudinal study
-
Wahbi K, Bé hin A, Charron P, et al. High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: A 10-year longitudinal study. Neuromuscul Disord 2012; 22:211-218.
-
(2012)
Neuromuscul Disord
, vol.22
, pp. 211-218
-
-
Wahbi, K.1
Béhin, A.2
Charron, P.3
-
40
-
-
78149256040
-
De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy
-
Klauke B, Kossmann S, Gaertner A, et al. De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy. Hum Mol Genet 2010; 19:4595-4607.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 4595-4607
-
-
Klauke, B.1
Kossmann, S.2
Gaertner, A.3
-
41
-
-
84865210197
-
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation
-
Hedberg C, Melberg A, Kuhl A, et al. Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation. Eur J Hum Genet 2012; 20:984-985.
-
(2012)
Eur J Hum Genet
, vol.20
, pp. 984-985
-
-
Hedberg, C.1
Melberg, A.2
Kuhl, A.3
-
42
-
-
0032701867
-
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q
-
Melberg A, Oldfors A, Blomströ m-Lundqvist C, et al. Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. Ann Neurol 1999; 46:684-692.
-
(1999)
Ann Neurol
, vol.46
, pp. 684-692
-
-
Melberg, A.1
Oldfors, A.2
Blomström-Lundqvist, C.3
-
43
-
-
84878533407
-
Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities
-
Henderson M, De Waele L, Hudson J, et al. Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities. Acta Neurpathol 2013; 125:917-919.
-
(2013)
Acta Neurpathol
, vol.125
, pp. 917-919
-
-
Henderson, M.1
De Waele, L.2
Hudson, J.3
-
44
-
-
84856147995
-
Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics
-
Greenberg SA, Salajegheh M, Judge DP, et al. Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. Ann Neurol 2012; 71:141-145.
-
(2012)
Ann Neurol
, vol.71
, pp. 141-145
-
-
Greenberg, S.A.1
Salajegheh, M.2
Judge, D.P.3
-
45
-
-
84858750382
-
Biomechanical characterization of a desminopathy in primary human myoblasts
-
Bonakdar N, Luczak J, Lautscham L, et al. Biomechanical characterization of a desminopathy in primary human myoblasts. Biochem Biophys Res Commun 2012; 419:703-707.
-
(2012)
Biochem Biophys Res Commun
, vol.419
, pp. 703-707
-
-
Bonakdar, N.1
Luczak, J.2
Lautscham, L.3
-
46
-
-
84874964600
-
Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy
-
Joanne P, Chourbagi O, Hourdé C, et al. Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy. Skelet Muscle 2013; 3:4.
-
(2013)
Skelet Muscle
, vol.3
, pp. 4
-
-
Joanne, P.1
Chourbagi, O.2
Hourdé, C.3
-
47
-
-
17344361902
-
A missense mutation in the alphaBcrystallin chaperone gene causes a desmin-related myopathy
-
Vicart P, Caron A, Guicheney P, et al. A missense mutation in the alphaBcrystallin chaperone gene causes a desmin-related myopathy. Nature Genet 1998; 20:92-95.
-
(1998)
Nature Genet
, vol.20
, pp. 92-95
-
-
Vicart, P.1
Caron, A.2
Guicheney, P.3
-
48
-
-
0018068469
-
Une nouvelle affection musculaire familiale, definie par l'accumulation intra-sarco-plasmique d'un materiel granulo-filamentaire dense en microscopie electronique
-
Fardeau M, Godet-Guillain J, Tomé FM, et al. Une nouvelle affection musculaire familiale, definie par l'accumulation intra-sarco-plasmique d'un materiel granulo-filamentaire dense en microscopie electronique. Rev Neurol 1978; 134:411-425.
-
(1978)
Rev Neurol
, vol.134
, pp. 411-425
-
-
Fardeau, M.1
Godet-Guillain, J.2
Tomé, F.M.3
-
49
-
-
84856014037
-
A novel CRYAB mutation resulting in multisystemic disease
-
Sacconi S, Fé asson L, Antoine JC, et al. A novel CRYAB mutation resulting in multisystemic disease. Neuromuscul Disord 2012; 22:66-72.
-
(2012)
Neuromuscul Disord
, vol.22
, pp. 66-72
-
-
Sacconi, S.1
Féasson, L.2
Antoine, J.C.3
-
50
-
-
0344664368
-
Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations
-
Selcen D, Engel AG. Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations. Ann Neurol 2003; 54:804-810.
-
(2003)
Ann Neurol
, vol.54
, pp. 804-810
-
-
Selcen, D.1
Engel, A.G.2
-
51
-
-
77950932697
-
The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy
-
Reilich P, Schoser B, Schramm N, et al. The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy. Neuromuscul Disord 2010; 20:255-259.
-
(2010)
Neuromuscul Disord
, vol.20
, pp. 255-259
-
-
Reilich, P.1
Schoser, B.2
Schramm, N.3
-
52
-
-
79952785522
-
A knock-in mouse model for the R120G mutation of aB-crystallin recapitulates human hereditary myopathy and cataracts
-
Andley UP, Hamilton PD, Ravi N, Weihl CC. A knock-in mouse model for the R120G mutation of aB-crystallin recapitulates human hereditary myopathy and cataracts. PLoS One 2011; 6:e17671.
-
(2011)
PLoS One
, vol.6
-
-
Andley, U.P.1
Hamilton, P.D.2
Ravi, N.3
Weihl, C.C.4
-
53
-
-
78650304556
-
Infantile onset myofibrillar myopathy due to recessive CRYAB mutations
-
Forrest KM, Al-Sarraj S, Sewry C, et al. Infantile onset myofibrillar myopathy due to recessive CRYAB mutations. Neuromuscul Disord 2011; 21:37-40.
-
(2011)
Neuromuscul Disord
, vol.21
, pp. 37-40
-
-
Forrest, K.M.1
Al-Sarraj, S.2
Sewry, C.3
-
54
-
-
79951952952
-
Infantile muscular dystrophy in Canadian aboriginals is an aB-crystallinopathy
-
Del Bigio MR, Chudley AE, Sarnat HB, et al. Infantile muscular dystrophy in Canadian aboriginals is an aB-crystallinopathy. Ann Neurol 2011; 69:866-871.
-
(2011)
Ann Neurol
, vol.69
, pp. 866-871
-
-
Del Bigio, M.R.1
Chudley, A.E.2
Sarnat, H.B.3
-
55
-
-
0034284682
-
Myotilin is mutated in limb girdle muscular dystrophy 1 A
-
Hauser MA, Horrigan SK, Salmikangas P, et al. Myotilin is mutated in limb girdle muscular dystrophy 1 A. Hum Mol Genet 2000; 14:2141-2147.
-
(2000)
Hum Mol Genet
, vol.14
, pp. 2141-2147
-
-
Hauser, M.A.1
Horrigan, S.K.2
Salmikangas, P.3
-
56
-
-
1942473823
-
Mutations in myotilin cause myofibrillar myopathy
-
Selcen D, Engel AG. Mutations in myotilin cause myofibrillar myopathy. Neurology 2004; 62:1363-1371.
-
(2004)
Neurology
, vol.62
, pp. 1363-1371
-
-
Selcen, D.1
Engel, A.G.2
-
57
-
-
26044435388
-
Myotilinopathy: Refining the clinical and myopathological phenotype
-
Olivé M, Goldfarb L, Shatunov A, et al. Myotilinopathy: Refining the clinical and myopathological phenotype. Brain 2005; 128:2315-2326.
-
(2005)
Brain
, vol.128
, pp. 2315-2326
-
-
Olivé, M.1
Goldfarb, L.2
Shatunov, A.3
-
58
-
-
67649413408
-
Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient
-
Shalaby S, Mitsuhashi H, Matsuda C, et al. 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 2009; 68:701-707.
-
(2009)
J Neuropathol Exp Neurol
, vol.68
, pp. 701-707
-
-
Shalaby, S.1
Mitsuhashi, H.2
Matsuda, C.3
-
59
-
-
79955527259
-
Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations
-
von Nandelstadh P, Soliymani R, Baumann M, Carpen O. Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations. Biochem J 2011; 436:113-121.
-
(2011)
Biochem J
, vol.436
, pp. 113-121
-
-
Von Nandelstadh, P.1
Soliymani, R.2
Baumann, M.3
Carpen, O.4
-
60
-
-
2442651500
-
Proteasomal expression, induction of immunoproteasome subunits, and local MHC class I presentation in myofibrillar myopathy and inclusion body myositis
-
Ferrer I, Martín B, Castaño JG, et al. Proteasomal expression, induction of immunoproteasome subunits, and local MHC class I presentation in myofibrillar myopathy and inclusion body myositis. J Neuropathol Exp Neurol 2004; 63:484-498.
-
(2004)
J Neuropathol Exp Neurol
, vol.63
, pp. 484-498
-
-
Ferrer, I.1
Martín, B.2
Castaño, J.G.3
-
61
-
-
84866360574
-
Pathophysiology of protein aggregation and extended phenotyping in filaminopathy
-
Kley RA, Serdaroglu-Oflazer P, Leber Y, et al. Pathophysiology of protein aggregation and extended phenotyping in filaminopathy. Brain 2012; 135:2642-2660.
-
(2012)
Brain
, vol.135
, pp. 2642-2660
-
-
Kley, R.A.1
Serdaroglu-Oflazer, P.2
Leber, Y.3
-
62
-
-
84859070497
-
In vivo characterization of mutant myotilins
-
Keduka E, Hayashi YK, Shalaby S, et al. In vivo characterization of mutant myotilins. Am J Pathol 2012; 180:1570-1580.
-
(2012)
Am J Pathol
, vol.180
, pp. 1570-1580
-
-
Keduka, E.1
Hayashi, Y.K.2
Shalaby, S.3
-
63
-
-
13144260646
-
Mutations in ZASP define a novel form of muscular dystrophy in humans
-
Selcen D, Engel AG. Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol 2005; 57:269-276.
-
(2005)
Ann Neurol
, vol.57
, pp. 269-276
-
-
Selcen, D.1
Engel, A.G.2
-
64
-
-
34250861423
-
Zaspopathy in a large classic late-onset distal myopathy family
-
Griggs R, Vihola A, Hackman P, et al. Zaspopathy in a large classic late-onset distal myopathy family. Brain 2007; 130:1477-1484.
-
(2007)
Brain
, vol.130
, pp. 1477-1484
-
-
Griggs, R.1
Vihola, A.2
Hackman, P.3
-
65
-
-
84864279118
-
ZASPopathy with childhood-onset distal myopathy
-
Strach K, Reimann J, Thomas D, et al. ZASPopathy with childhood-onset distal myopathy. J Neurol 2012; 259:1494-1496.
-
(2012)
J Neurol
, vol.259
, pp. 1494-1496
-
-
Strach, K.1
Reimann, J.2
Thomas, D.3
-
66
-
-
84867330908
-
H Clinical, pathological, and genetic mutation analysis of sporadic inclusion body myositis in Japanese people
-
Cai H, Yabe I, Sato K, et al. H. Clinical, pathological, and genetic mutation analysis of sporadic inclusion body myositis in Japanese people. J Neurol 2012; 259:1913-1922.
-
(2012)
J Neurol
, vol.259
, pp. 1913-1922
-
-
Cai, H.1
Yabe, I.2
Sato, K.3
-
67
-
-
22544478749
-
A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy
-
Vorgerd M, van der Ven PF, Bruchertseifer V, et al. A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. Am J Hum Genet 2005; 77:297-304.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 297-304
-
-
Vorgerd, M.1
Van Der Ven, P.F.2
Bruchertseifer, V.3
-
68
-
-
84872284023
-
Filamin C-related myopathies: Pathology and mechanisms
-
Fürst DO, Goldfarb LG, Kley RA, et al. Filamin C-related myopathies: Pathology and mechanisms. Acta Neuropathol 2013; 125:33-46.
-
(2013)
Acta Neuropathol
, vol.125
, pp. 33-46
-
-
Fürst, D.O.1
Goldfarb, L.G.2
Kley, R.A.3
-
69
-
-
84864014397
-
Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia
-
Tasca G, Odgerel Z, Monforte M, et al. Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia. Muscle Nerve 2012; 46:275-282.
-
(2012)
Muscle Nerve
, vol.46
, pp. 275-282
-
-
Tasca, G.1
Odgerel, Z.2
Monforte, M.3
-
70
-
-
84865770737
-
Characterization and investigation of zebrafish models of filamin-related myofibrillar myopathy
-
Ruparelia AA, Zhao M, Currie PD, Bryson-Richardson RJ. Characterization and investigation of zebrafish models of filamin-related myofibrillar myopathy. Hum Mol Genet 2012; 21:4073-4083.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 4073-4083
-
-
Ruparelia, A.A.1
Zhao, M.2
Currie, P.D.3
Bryson-Richardson, R.J.4
-
71
-
-
83055180637
-
Filamin C plays an essential role in the maintenance of the structural integrity of cardiac and skeletal muscles, revealed by the medaka mutant zacro
-
Fujita M, Mitsuhashi H, Isogai S, et al. Filamin C plays an essential role in the maintenance of the structural integrity of cardiac and skeletal muscles, revealed by the medaka mutant zacro. Dev Biol 2012; 361:79-89.
-
(2012)
Dev Biol
, vol.361
, pp. 79-89
-
-
Fujita, M.1
Mitsuhashi, H.2
Isogai, S.3
-
72
-
-
60849131479
-
Mutation in BAG3 causes severe dominant childhood muscular dystrophy
-
Selcen D, Muntoni F, Burton BK, et al. Mutation in BAG3 causes severe dominant childhood muscular dystrophy. Ann Neurol 2009; 65:83-89.
-
(2009)
Ann Neurol
, vol.65
, pp. 83-89
-
-
Selcen, D.1
Muntoni, F.2
Burton, B.K.3
-
73
-
-
77954034456
-
Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation
-
Odgerel Z, Sarkozy A, Lee HS, et al. Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. Neuromuscul Disord 2010; 20:438-442.
-
(2010)
Neuromuscul Disord
, vol.20
, pp. 438-442
-
-
Odgerel, Z.1
Sarkozy, A.2
Lee, H.S.3
-
74
-
-
84863283173
-
BAG3-related myofibrillar myopathy in a Chinese family
-
Lee HC, Cherk SW, Chan SK, et al. BAG3-related myofibrillar myopathy in a Chinese family. Clin Genet 2012; 81:394-398.
-
(2012)
Clin Genet
, vol.81
, pp. 394-398
-
-
Lee, H.C.1
Cherk, S.W.2
Chan, S.K.3
-
75
-
-
84863441874
-
BAG3 mutations: Another cause of giant axonal neuropathy
-
Jaffer F, Murphy SM, Scoto M, et al. BAG3 mutations: Another cause of giant axonal neuropathy. J Peripher Nerv Syst 2012; 17:210-216.
-
(2012)
J Peripher Nerv Syst
, vol.17
, pp. 210-216
-
-
Jaffer, F.1
Murphy, S.M.2
Scoto, M.3
-
76
-
-
48749104264
-
Electron microscopy in myofibrillar myopathies reveal clues to the mutated gene
-
Claeys KG, Fardeau M, Schrö der R, et al. Electron microscopy in myofibrillar myopathies reveal clues to the mutated gene. Neuromuscul Disord 2008; 18:656-666.
-
(2008)
Neuromuscul Disord
, vol.18
, pp. 656-666
-
-
Claeys, K.G.1
Fardeau, M.2
Schröder, R.3
-
77
-
-
79960928910
-
Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy
-
Olivé M, Odgerel Z, Martínez A, et al. Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy. Neuromuscul Disord 2011; 21:533-542.
-
(2011)
Neuromuscul Disord
, vol.21
, pp. 533-542
-
-
Olivé, M.1
Odgerel, Z.2
Martínez, A.3
-
78
-
-
54049133776
-
Distinct muscle imaging patterns in myofibrillar myopathies
-
Fischer D, Kley RA, Strach K, et al. Distinct muscle imaging patterns in myofibrillar myopathies. Neurology 2008; 71:758-765.
-
(2008)
Neurology
, vol.71
, pp. 758-765
-
-
Fischer, D.1
Kley, R.A.2
Strach, K.3
|