-
1
-
-
75749136013
-
The vertebrate muscle Z-disc: sarcomere anchor for structure and signalling
-
Luther PK. The vertebrate muscle Z-disc: sarcomere anchor for structure and signalling. J Muscle Res Cell Motil 2009; 30: 171-185.
-
(2009)
J Muscle Res Cell Motil
, vol.30
, pp. 171-185
-
-
Luther, P.K.1
-
2
-
-
33744494538
-
The sarcomeric Z-disc: a nodal point in signalling and disease
-
Frank D, Kuhn C, Katus HA, Frey N. The sarcomeric Z-disc: a nodal point in signalling and disease. J Mol Med (Berl) 2006; 84: 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
-
3
-
-
84872295989
-
Mitochondrial morphology, topology, and membrane interactions in skeletal muscle: a quantitative three-dimensional electron microscopy study
-
Picard M, White K, Turnbull DM. Mitochondrial morphology, topology, and membrane interactions in skeletal muscle: a quantitative three-dimensional electron microscopy study. J Appl Physiol (1985) 2013; 114: 161-171.
-
(2013)
J Appl Physiol (1985)
, vol.114
, pp. 161-171
-
-
Picard, M.1
White, K.2
Turnbull, D.M.3
-
4
-
-
34249697100
-
Muscle intermediate filaments and their links to membranes and membranous organelles
-
Capetanaki Y, Bloch RJ, Kouloumenta A, et al. Muscle intermediate filaments and their links to membranes and membranous organelles. Exp Cell Res 2007; 313: 2063-2076.
-
(2007)
Exp Cell Res
, vol.313
, pp. 2063-2076
-
-
Capetanaki, Y.1
Bloch, R.J.2
Kouloumenta, A.3
-
5
-
-
84939485141
-
Plectin isoform P1b and P1d deficiencies differentially affect mitochondrial morphology and function in skeletal muscle
-
Winter L, Kuznetsov AV, Grimm M, et al. Plectin isoform P1b and P1d deficiencies differentially affect mitochondrial morphology and function in skeletal muscle. Hum Mol Genet 2015; pii: ddv184. doi:10.1093/hmg/ddv184.
-
(2015)
Hum Mol Genet
-
-
Winter, L.1
Kuznetsov, A.V.2
Grimm, M.3
-
6
-
-
0034683573
-
Desmin cytoskeleton linked to muscle mitochondrial distribution and respiratory function
-
Milner DJ, Mavroidis M, Weisleder N, et al. Desmin cytoskeleton linked to muscle mitochondrial distribution and respiratory function. J Cell Biol 2000; 150: 1283-1298.
-
(2000)
J Cell Biol
, vol.150
, pp. 1283-1298
-
-
Milner, D.J.1
Mavroidis, M.2
Weisleder, N.3
-
7
-
-
66949173652
-
Myofibrillar myopathies: a clinical and myopathological guide
-
Schröder R, Schoser B. Myofibrillar myopathies: a clinical and myopathological guide. Brain Pathol 2009; 19: 483-492.
-
(2009)
Brain Pathol
, vol.19
, pp. 483-492
-
-
Schröder, R.1
Schoser, B.2
-
8
-
-
79951941623
-
Myofibrillar myopathies
-
Selcen D. Myofibrillar myopathies. Neuromuscul Disord 2011; 21: 161-171.
-
(2011)
Neuromuscul Disord
, vol.21
, pp. 161-171
-
-
Selcen, D.1
-
11
-
-
48749104264
-
Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene
-
Claeys KG, Fardeau M, Schröder R, et al. Electron microscopy in myofibrillar myopathies reveals 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
-
12
-
-
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
-
13
-
-
81455148184
-
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy
-
Vattemi G, Neri M, Piffer S, et al. Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy. Acta Myol 2011; 30: 121-126.
-
(2011)
Acta Myol
, vol.30
, pp. 121-126
-
-
Vattemi, G.1
Neri, M.2
Piffer, S.3
-
16
-
-
84892863880
-
Human myocytes are protected from titin aggregation-induced stiffening by small heat shock proteins
-
Kötter S1, Unger A, Hamdani N, et al. Human myocytes are protected from titin aggregation-induced stiffening by small heat shock proteins. J Cell Biol 2014; 204: 187-202.
-
(2014)
J Cell Biol
, vol.204
, pp. 187-202
-
-
Kötter, S.1
Unger, A.2
Hamdani, N.3
-
17
-
-
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. Nat Genet 1998; 20: 92-95.
-
(1998)
Nat Genet
, vol.20
, pp. 92-95
-
-
Vicart, P.1
Caron, A.2
Guicheney, P.3
-
18
-
-
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
-
19
-
-
84856014037
-
A novel CRYAB mutation resulting in multisystemic disease
-
Sacconi S, Féasson L, Antoine JC. 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
-
20
-
-
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
-
21
-
-
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
-
22
-
-
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
-
23
-
-
84906543280
-
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies
-
Semmler AL, Sacconi S, Bach J, et al. Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies. Orphanet J Rare Dis 2014; 9: 121.
-
(2014)
Orphanet J Rare Dis
, vol.9
, pp. 121
-
-
Semmler, A.L.1
Sacconi, S.2
Bach, J.3
-
24
-
-
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
-
25
-
-
84927912558
-
BAG3 myofibrillar myopathy presenting with cardiomyopathy
-
Konersman CG, Bordini BJ, Scharer G, et al. BAG3 myofibrillar myopathy presenting with cardiomyopathy. Neuromuscul Disord 2015; 25: 418-422.
-
(2015)
Neuromuscul Disord
, vol.25
, pp. 418-422
-
-
Konersman, C.G.1
Bordini, B.J.2
Scharer, G.3
-
27
-
-
0037444403
-
On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria
-
Schröder R, Goudeau B, Simon MC, et al. On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria. Hum Mol Genet 2003; 12: 657-669.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 657-669
-
-
Schröder, R.1
Goudeau, B.2
Simon, M.C.3
-
28
-
-
22744436103
-
A novel desmin R355P mutation causes cardiac and skeletal myopathy
-
Fidziańska A, Kotowicz J, Sadowska M, et al. A novel desmin R355P mutation causes cardiac and skeletal myopathy. Neuromuscul Disord 2005; 15: 525-531.
-
(2005)
Neuromuscul Disord
, vol.15
, pp. 525-531
-
-
Fidziańska, A.1
Kotowicz, J.2
Sadowska, M.3
-
29
-
-
77950518810
-
Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain
-
Vernengo L, Chourbagi O, Panuncio A, et al. Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain. Neuromuscul Disord 2010; 20: 178-218.
-
(2010)
Neuromuscul Disord
, vol.20
, pp. 178-218
-
-
Vernengo, L.1
Chourbagi, O.2
Panuncio, A.3
-
30
-
-
79951792793
-
A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene
-
Hong D, Wang Z, Zhang W, et al. A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene. Neuropathol Appl Neurobiol 2011; 37: 257-270.
-
(2011)
Neuropathol Appl Neurobiol
, vol.37
, pp. 257-270
-
-
Hong, D.1
Wang, Z.2
Zhang, W.3
-
31
-
-
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 Neuropathol 2013; 125: 917-919.
-
(2013)
Acta Neuropathol
, vol.125
, pp. 917-919
-
-
Henderson, M.1
De Waele, L.2
Hudson, J.3
-
33
-
-
84879816929
-
Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy
-
McLaughlin HM, Kelly MA, Hawley PP, et al. Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy. BMC Med Genet 2013; 14: 68.
-
(2013)
BMC Med Genet
, vol.14
, pp. 68
-
-
McLaughlin, H.M.1
Kelly, M.A.2
Hawley, P.P.3
-
34
-
-
84859432401
-
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy
-
Sarparanta J, Jonson PH, Golzio C, et al. Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. Nat Genet 2012; 44: 450-455.
-
(2012)
Nat Genet
, vol.44
, pp. 450-455
-
-
Sarparanta, J.1
Jonson, P.H.2
Golzio, C.3
-
35
-
-
84859217695
-
Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy
-
Harms MB, Sommerville RB, Allred P, et al. Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy. Ann Neurol 2012; 71: 407-416.
-
(2012)
Ann Neurol
, vol.71
, pp. 407-416
-
-
Harms, M.B.1
Sommerville, R.B.2
Allred, P.3
-
36
-
-
85027922212
-
DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions
-
Sato T, Hayashi YK, Oya Y, et al. DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions. Neuromuscul Disord 2013; 23: 269-276.
-
(2013)
Neuromuscul Disord
, vol.23
, pp. 269-276
-
-
Sato, T.1
Hayashi, Y.K.2
Oya, Y.3
-
37
-
-
84896106519
-
DNAJB6 myopathy: a vacuolar myopathy with childhood onset
-
Suarez-Cedeno G, Winder T, Milone M. DNAJB6 myopathy: a vacuolar myopathy with childhood onset. Muscle Nerve 2014; 49: 607-610.
-
(2014)
Muscle Nerve
, vol.49
, pp. 607-610
-
-
Suarez-Cedeno, G.1
Winder, T.2
Milone, M.3
-
38
-
-
84899052610
-
199th ENMC international workshop: FHL1 related myopathies, June 7-9, 2013, Naarden, The Netherlands
-
Bertrand AT, Bonnemann CG, Bonne G. 199th ENMC international workshop: FHL1 related myopathies, June 7-9, 2013, Naarden, The Netherlands. Neuromuscul Disord 2014; 24: 453-462.
-
(2014)
Neuromuscul Disord
, vol.24
, pp. 453-462
-
-
Bertrand, A.T.1
Bonnemann, C.G.2
Bonne, G.3
-
39
-
-
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
-
40
-
-
60149106395
-
Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1
-
Schessl J, Taratuto AL, Sewry C, et al. Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. Brain 2009; 132: 452-464.
-
(2009)
Brain
, vol.132
, pp. 452-464
-
-
Schessl, J.1
Taratuto, A.L.2
Sewry, C.3
-
41
-
-
69449087584
-
Consequences of mutations within the C terminus of the FHL1 gene
-
Schoser B, Goebel HH, Janisch I, et al. Consequences of mutations within the C terminus of the FHL1 gene. Neurology 2009; 73: 543-551.
-
(2009)
Neurology
, vol.73
, pp. 543-551
-
-
Schoser, B.1
Goebel, H.H.2
Janisch, I.3
-
42
-
-
77956879955
-
A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutations
-
Chen DH, Raskind WH, Parson WW, et al. A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutations. J Neurol Sci 2010; 296: 22-29.
-
(2010)
J Neurol Sci
, vol.296
, pp. 22-29
-
-
Chen, D.H.1
Raskind, W.H.2
Parson, W.W.3
-
43
-
-
84883597381
-
Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders
-
Malfatti E, Olivé M, Taratuto AL, et al. Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders. J Neuropathol Exp Neurol 2013; 72: 833-845.
-
(2013)
J Neuropathol Exp Neurol
, vol.72
, pp. 833-845
-
-
Malfatti, E.1
Olivé, M.2
Taratuto, A.L.3
-
44
-
-
84906266592
-
Aggresome-autophagy involvement in a sarcopenic patient with rigid spine syndrome and a p.C150R mutation in FHL1 gene
-
Sabatelli P, Castagnaro S, Tagliavini F, et al. Aggresome-autophagy involvement in a sarcopenic patient with rigid spine syndrome and a p.C150R mutation in FHL1 gene. Front Aging Neurosci 2014; 6: 215.
-
(2014)
Front Aging Neurosci
, vol.6
, pp. 215
-
-
Sabatelli, P.1
Castagnaro, S.2
Tagliavini, F.3
-
45
-
-
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
-
46
-
-
84871327279
-
Novel FHL1 mutation in a family with reducing body myopathy
-
1271-1234
-
Schreckenbach T, Henn W, Kress W, et al. Novel FHL1 mutation in a family with reducing body myopathy. Muscle Nerve 2013; 47: 1271-34.
-
(2013)
Muscle Nerve
, vol.47
-
-
Schreckenbach, T.1
Henn, W.2
Kress, W.3
-
47
-
-
0034776199
-
Telethonin and other new proteins of the Z-disc of skeletal muscle
-
Faulkner G, Lanfranchi G, Valle G. Telethonin and other new proteins of the Z-disc of skeletal muscle. IUBMB Life 2001; 51: 275-282.
-
(2001)
IUBMB Life
, vol.51
, pp. 275-282
-
-
Faulkner, G.1
Lanfranchi, G.2
Valle, G.3
-
48
-
-
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
-
49
-
-
36749069412
-
Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients
-
Kley RA, Hellenbroich Y, van der Ven PFM, et al. Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients. Brain 2007; 130: 3250-3264.
-
(2007)
Brain
, vol.130
, pp. 3250-3264
-
-
Kley, R.A.1
Hellenbroich, Y.2
van der Ven, P.F.M.3
-
50
-
-
67349203570
-
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy
-
Shatunov A, Olive M, Odgerel Z, et al. In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy. Eur J Hum Genet 2009; 17: 656-663.
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 656-663
-
-
Shatunov, A.1
Olive, M.2
Odgerel, Z.3
-
51
-
-
77953121676
-
A novel heterozygous deletion-insertion mutation (2695-2712 del/GTTTGT ins) in exon 18 of the filamin C gene causes filaminopathy in a large Chinese family
-
Luan X, Hong D, Zhang W, Wang Z, Yuan Y. A novel heterozygous deletion-insertion mutation (2695-2712 del/GTTTGT ins) in exon 18 of the filamin C gene causes filaminopathy in a large Chinese family. Neuromuscul Disord 2010; 20: 390-396.
-
(2010)
Neuromuscul Disord
, vol.20
, pp. 390-396
-
-
Luan, X.1
Hong, D.2
Zhang, W.3
Wang, Z.4
Yuan, Y.5
-
52
-
-
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: 2642-3660.
-
(2012)
Brain
, vol.135
, pp. 2642-3660
-
-
Kley, R.A.1
Serdaroglu-Oflazer, P.2
Leber, Y.3
-
53
-
-
79958825364
-
Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy
-
Duff RM, Tay V, Hackman P, et al. Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy. Am J Hum Genet 2011; 88: 729-740.
-
(2011)
Am J Hum Genet
, vol.88
, pp. 729-740
-
-
Duff, R.M.1
Tay, V.2
Hackman, P.3
-
54
-
-
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
-
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
-
-
33645650403
-
A mutation in myotilin causes spheroid body myopathy
-
Foroud TN, Pankratz AP, Batchman MW, et al. A mutation in myotilin causes spheroid body myopathy. Neurology 2005; 65: 1936-1940.
-
(2005)
Neurology
, vol.65
, pp. 1936-1940
-
-
Foroud, T.N.1
Pankratz, A.P.2
Batchman, M.W.3
-
58
-
-
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
-
59
-
-
84904538415
-
Novel recessive myotilin mutation causes severe myofibrillar myopathy
-
Schessl J, Bach E, Rost S. Novel recessive myotilin mutation causes severe myofibrillar myopathy. Neurogenetics 2014; 15: 151-156.
-
(2014)
Neurogenetics
, vol.15
, pp. 151-156
-
-
Schessl, J.1
Bach, E.2
Rost, S.3
-
60
-
-
79961028072
-
A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A)
-
Reilich P, Krause S, Schramm N, et al. A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A). J Neurol 2011; 258: 1437-1444.
-
(2011)
J Neurol
, vol.258
, pp. 1437-1444
-
-
Reilich, P.1
Krause, S.2
Schramm, N.3
-
61
-
-
9344248374
-
Plectin deficiency results in muscular dystrophy with epidermolysis bullosa
-
Smith FJ, Eady RA, Leigh IM, et al. Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. Nat Genet 1996; 13: 450-457.
-
(1996)
Nat Genet
, vol.13
, pp. 450-457
-
-
Smith, F.J.1
Eady, R.A.2
Leigh, I.M.3
-
62
-
-
0032811908
-
Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency
-
Banwell BL, Russel J, Fukudome T, et al. Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency. J Neuropathol Exp Neurol 1999; 58: 832-846.
-
(1999)
J Neuropathol Exp Neurol
, vol.58
, pp. 832-846
-
-
Banwell, B.L.1
Russel, J.2
Fukudome, T.3
-
63
-
-
78649796969
-
Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy
-
Gundesli H, Talim B, Korkusuz P, et al. Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. Am J Hum Genet 2010; 87: 834-841.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 834-841
-
-
Gundesli, H.1
Talim, B.2
Korkusuz, P.3
-
64
-
-
0036276158
-
Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy
-
Schröder R, Kunz WS, Rouan F, et al. Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy. J Neuropathol Exp Neurol 2002; 61: 520-530.
-
(2002)
J Neuropathol Exp Neurol
, vol.61
, pp. 520-530
-
-
Schröder, R.1
Kunz, W.S.2
Rouan, F.3
-
65
-
-
84906061711
-
A rising titan: TTN review and mutation update
-
Chauveau C, Rowell J, Ferreiro A. A rising titan: TTN review and mutation update. Hum Mutat 2014; 35: 1046-1059.
-
(2014)
Hum Mutat
, vol.35
, pp. 1046-1059
-
-
Chauveau, C.1
Rowell, J.2
Ferreiro, A.3
-
66
-
-
84906078909
-
A Titan but not necessarily a ruler: assessing the role of titin during thick filament patterning and assembly
-
Myhre JL, Pilgrim D. A Titan but not necessarily a ruler: assessing the role of titin during thick filament patterning and assembly. Anat Rec (Hoboken) 2014; 297: 1604-1614.
-
(2014)
Anat Rec (Hoboken)
, vol.297
, pp. 1604-1614
-
-
Myhre, J.L.1
Pilgrim, D.2
-
67
-
-
84861563537
-
Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin
-
Ohlsson M, Hedberg C, Brådvik 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
Brådvik, B.3
-
68
-
-
34247620197
-
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy
-
Carmignac V, Salih MAM, Quijano-Roy S, et al. C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. Ann Neurol 2007; 61: 340-351.
-
(2007)
Ann Neurol
, vol.61
, pp. 340-351
-
-
Carmignac, V.1
Salih, M.A.M.2
Quijano-Roy, S.3
-
69
-
-
84886409449
-
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy
-
Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, et al. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology 2013; 81: 1205-1214.
-
(2013)
Neurology
, vol.81
, pp. 1205-1214
-
-
Ceyhan-Birsoy, O.1
Agrawal, P.B.2
Hidalgo, C.3
-
70
-
-
84896740436
-
Hereditary myopathy with early respiratory failure: occurrence in various populations
-
Palmio J, Evilä A, Chapon F, et al. Hereditary myopathy with early respiratory failure: occurrence in various populations. J Neurol Neurosurg Psychiatry 2014; 85: 345-353.
-
(2014)
J Neurol Neurosurg Psychiatry
, vol.85
, pp. 345-353
-
-
Palmio, J.1
Evilä, A.2
Chapon, F.3
-
71
-
-
84900464356
-
Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathy
-
Lin X, Ruiz J, Bajraktari I, et al. Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathy. J Biol Chem 2014; 289: 13615-13626.
-
(2014)
J Biol Chem
, vol.289
, pp. 13615-13626
-
-
Lin, X.1
Ruiz, J.2
Bajraktari, I.3
-
72
-
-
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
-
73
-
-
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
-
74
-
-
84867330908
-
Clinical, pathological, and genetic mutation analysis of sporadic inclusion body myositis in Japanese people
-
Cai H, Yabe I, Sato K, et al. 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
-
75
-
-
84894347621
-
Mitochondrial abnormalities in myofibrillar myopathies
-
Joshi PR, Hauburger A, Kley R, et al. Mitochondrial abnormalities in myofibrillar myopathies. Clin Neuropathol 2014; 33: 134-142.
-
(2014)
Clin Neuropathol
, vol.33
, pp. 134-142
-
-
Joshi, P.R.1
Hauburger, A.2
Kley, R.3
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