-
1
-
-
63149092411
-
A retrograde signal from RyR1 alters DHP receptor inactivation and limits window Ca2+ release in muscle fibers of Y522S RyR1 knock-in mice
-
Andronache Z, Hamilton SL, Dirksen RT, Melzer W (2009) A retrograde signal from RyR1 alters DHP receptor inactivation and limits window Ca2+ release in muscle fibers of Y522S RyR1 knock-in mice. Proc. Natl. Acad. Sci. U S A 106, 4531-4536.
-
(2009)
Proc. Natl. Acad. Sci. U S A
, vol.106
, pp. 4531-4536
-
-
Andronache, Z.1
Hamilton, S.L.2
Dirksen, R.T.3
Melzer, W.4
-
2
-
-
71049145750
-
Fibre type composition of the human psoas major muscle with regard to the level of its origin
-
Arbanas J, Klasan GS, Nikolic M, Jerkovic R, Miljanovic I, Malnar D (2009) Fibre type composition of the human psoas major muscle with regard to the level of its origin. J. Anat. 215, 636-641.
-
(2009)
J. Anat.
, vol.215
, pp. 636-641
-
-
Arbanas, J.1
Klasan, G.S.2
Nikolic, M.3
Jerkovic, R.4
Miljanovic, I.5
Malnar, D.6
-
3
-
-
0024458592
-
Maximal shortening velocities, isomyosins and fibre types in soleus muscle of mice, rats and guinea-pigs
-
Asmussen G, Marechal G (1989) Maximal shortening velocities, isomyosins and fibre types in soleus muscle of mice, rats and guinea-pigs. J. Physiol. 416, 245-254.
-
(1989)
J. Physiol.
, vol.416
, pp. 245-254
-
-
Asmussen, G.1
Marechal, G.2
-
4
-
-
0034849005
-
Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor
-
Avila G, Dirksen RT (2001) Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor. J. Gen. Physiol. 118, 277-290.
-
(2001)
J. Gen. Physiol.
, vol.118
, pp. 277-290
-
-
Avila, G.1
Dirksen, R.T.2
-
5
-
-
0037390156
-
The pore region of the skeletal muscle ryanodine receptor is a primary locus for excitation-contraction uncoupling in central core disease
-
Avila G, O'Connell KM, Dirksen RT (2003) The pore region of the skeletal muscle ryanodine receptor is a primary locus for excitation-contraction uncoupling in central core disease. J. Gen. Physiol. 121, 277-286.
-
(2003)
J. Gen. Physiol.
, vol.121
, pp. 277-286
-
-
Avila, G.1
O'Connell, K.M.2
Dirksen, R.T.3
-
6
-
-
31744452211
-
Myology
-
third edition), Engel AG, Franzini-Armstrong C, Eds). McGraw- Hill Med. Publish. Div., New York, chap. 30 -.
-
Banker BQ, Engel AG (2004). Basic Reactions of Muscle. in Myology (third edition), (Engel AG, Franzini-Armstrong C, Eds). McGraw- Hill Med. Publish. Div., New York, vol.I, chap. 30, pp. 691-747.
-
(2004)
Basic Reactions of Muscle
, vol.1
, pp. 691-747
-
-
Banker, B.Q.1
Engel, A.G.2
-
7
-
-
0023910817
-
Calcium currents in embryonic and neonatal mammalian skeletal muscle
-
Beam KG, Knudson CM (1988) Calcium currents in embryonic and neonatal mammalian skeletal muscle. J. Gen. Physiol. 91, 781-798.
-
(1988)
J. Gen. Physiol.
, vol.91
, pp. 781-798
-
-
Beam, K.G.1
Knudson, C.M.2
-
8
-
-
33750921624
-
Progressive disorganization of the excitation-contraction coupling apparatus in aging human skeletal muscle as revealed by electron microscopy: a possible role in the decline of muscle performance
-
Boncompagni S, D'Amelio L, Fulle S, Fano G, Protasi F (2006) Progressive disorganization of the excitation-contraction coupling apparatus in aging human skeletal muscle as revealed by electron microscopy: a possible role in the decline of muscle performance. J. Gerontol. A Biol. Sci. Med. Sci. 61, 995-1008.
-
(2006)
J. Gerontol. A Biol. Sci. Med. Sci.
, vol.61
, pp. 995-1008
-
-
Boncompagni, S.1
D'Amelio, L.2
Fulle, S.3
Fano, G.4
Protasi, F.5
-
9
-
-
76049112119
-
Characterization and temporal development of cores in a mouse model of malignant hyperthermia
-
Boncompagni S, Rossi AE, Micaroni M, Hamilton SL, Dirksen RT, Franzini-Armstrong C, Protasi F (2009) Characterization and temporal development of cores in a mouse model of malignant hyperthermia. Proc. Natl. Acad. Sci. U S A 106, 21996-22001.
-
(2009)
Proc. Natl. Acad. Sci. U S A
, vol.106
, pp. 21996-22001
-
-
Boncompagni, S.1
Rossi, A.E.2
Micaroni, M.3
Hamilton, S.L.4
Dirksen, R.T.5
Franzini-Armstrong, C.6
Protasi, F.7
-
10
-
-
33644882215
-
Heat- and anesthesia-induced malignant hyperthermia in an RyR1 knock-in mouse
-
Chelu MG, Goonasekera SA, Durham WJ, Tang W, Lueck JD, Riehl J, Pessah IN, Zhang P, Bhattacharjee MB, Dirksen RT, Hamilton SL (2006) Heat- and anesthesia-induced malignant hyperthermia in an RyR1 knock-in mouse. FASEB J. 20, 329-330.
-
(2006)
FASEB J.
, vol.20
, pp. 329-330
-
-
Chelu, M.G.1
Goonasekera, S.A.2
Durham, W.J.3
Tang, W.4
Lueck, J.D.5
Riehl, J.6
Pessah, I.N.7
Zhang, P.8
Bhattacharjee, M.B.9
Dirksen, R.T.10
Hamilton, S.L.11
-
11
-
-
0000230326
-
Light and Electron Microscopic Studies of "Myogranules" in a Child with Hypotonia and Muscle Weakness
-
Conen PE, Murphy EG, Donohue WL (1963) Light and Electron Microscopic Studies of "Myogranules" in a Child with Hypotonia and Muscle Weakness. Can. Med. Assoc. J. 89, 983-986.
-
(1963)
Can. Med. Assoc. J.
, vol.89
, pp. 983-986
-
-
Conen, P.E.1
Murphy, E.G.2
Donohue, W.L.3
-
12
-
-
27144539495
-
Deficiency of alpha-sarcoglycan differently affects fast- and slow-twitch skeletal muscles
-
Danieli-Betto D, Esposito A, Germinario E, Sandona D, Martinello T, Jakubiec-Puka A, Biral D, Betto R (2005) Deficiency of alpha-sarcoglycan differently affects fast- and slow-twitch skeletal muscles. Am. J. Physiol. Regul. Integr. Comp. Physiol. 289, R1328-R1337.
-
(2005)
Am. J. Physiol. Regul. Integr. Comp. Physiol.
, vol.289
-
-
Danieli-Betto, D.1
Esposito, A.2
Germinario, E.3
Sandona, D.4
Martinello, T.5
Jakubiec-Puka, A.6
Biral, D.7
Betto, R.8
-
13
-
-
0037306045
-
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene
-
Davis MR, Haan E, Jungbluth H, Sewry C, North K, Muntoni F, Kuntzer T, Lamont P, Bankier A, Tomlinson P, Sanchez A, Walsh P, Nagarajan L, Oley C, Colley A, Gedeon A, Quinlivan R, Dixon J, James D, Muller CR, Laing NG (2003) Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene. Neuromuscul. Disord. 13, 151-157.
-
(2003)
Neuromuscul. Disord.
, vol.13
, pp. 151-157
-
-
Davis, M.R.1
Haan, E.2
Jungbluth, H.3
Sewry, C.4
North, K.5
Muntoni, F.6
Kuntzer, T.7
Lamont, P.8
Bankier, A.9
Tomlinson, P.10
Sanchez, A.11
Walsh, P.12
Nagarajan, L.13
Oley, C.14
Colley, A.15
Gedeon, A.16
Quinlivan, R.17
Dixon, J.18
James, D.19
Muller, C.R.20
Laing, N.G.21
more..
-
15
-
-
16344388804
-
+ handling caused by malignant hyperthermia and central core disease mutations in RyR1
-
+ handling caused by malignant hyperthermia and central core disease mutations in RyR1. Biophys. J. 87, 3193-3204.
-
(2004)
Biophys. J.
, vol.87
, pp. 3193-3204
-
-
Dirksen, R.T.1
Avila, G.2
-
16
-
-
41149142599
-
RyR1 S-nitrosylation underlies environmental heat stroke and sudden death in Y522S RyR1 knockin mice
-
Durham WJ, Aracena-Parks P, Long C, Rossi AE, Goonasekera SA, Boncompagni S, Galvan DL, Gilman CP, Baker MR, Shirokova N, Protasi F, Dirksen R, Hamilton SL (2008) RyR1 S-nitrosylation underlies environmental heat stroke and sudden death in Y522S RyR1 knockin mice. Cell 133, 53-65.
-
(2008)
Cell
, vol.133
, pp. 53-65
-
-
Durham, W.J.1
Aracena-Parks, P.2
Long, C.3
Rossi, A.E.4
Goonasekera, S.A.5
Boncompagni, S.6
Galvan, D.L.7
Gilman, C.P.8
Baker, M.R.9
Shirokova, N.10
Protasi, F.11
Dirksen, R.12
Hamilton, S.L.13
-
17
-
-
0005770824
-
Reflex summation in the ipsilateral spinal flexion reflex
-
Eccles JC, Sherrington CS (1930) Reflex summation in the ipsilateral spinal flexion reflex. J. Physiol. 69, 1-28.
-
(1930)
J. Physiol.
, vol.69
, pp. 1-28
-
-
Eccles, J.C.1
Sherrington, C.S.2
-
18
-
-
78249238980
-
Handbook of Physiology, section 10, skeletal muscle
-
Peachey LD, Adrian RH, eds). Am Physiol Soc., Baltimore Md. pp
-
Eisenberg BR (1983). Quantitative ultrastructure of mammalian skeletal muscle. In Handbook of Physiology, section 10, skeletal muscle. (Peachey LD, Adrian RH, eds). Am Physiol Soc., Baltimore Md. pp 191-213.
-
(1983)
Quantitative ultrastructure of mammalian skeletal muscle
, pp. 191-213
-
-
Eisenberg, B.R.1
-
19
-
-
0000502970
-
Central core disease-an investigation of a rare muscle cell abnormality
-
Engel WK, Foster JB, Hughes BP, Huxley HE, Mahler R (1961) Central core disease-an investigation of a rare muscle cell abnormality. Brain 84, 167-185.
-
(1961)
Brain
, vol.84
, pp. 167-185
-
-
Engel, W.K.1
Foster, J.B.2
Hughes, B.P.3
Huxley, H.E.4
Mahler, R.5
-
22
-
-
0024562039
-
Central core disease: ultrastructure of the sarcoplasmic reticulum and T-tubules
-
Hayashi K, Miller RG, Brownell AK (1989) Central core disease: ultrastructure of the sarcoplasmic reticulum and T-tubules. Muscle Nerve 12, 95-102.
-
(1989)
Muscle Nerve
, vol.12
, pp. 95-102
-
-
Hayashi, K.1
Miller, R.G.2
Brownell, A.K.3
-
23
-
-
0033519274
-
Myogenin induces a shift of enzyme activity from glycolytic to oxidative metabolism in muscles of transgenic mice
-
Hughes SM, Chi MM, Lowry OH, Gundersen K (1999) Myogenin induces a shift of enzyme activity from glycolytic to oxidative metabolism in muscles of transgenic mice. J. Cell Biol. 145, 633-642.
-
(1999)
J. Cell Biol.
, vol.145
, pp. 633-642
-
-
Hughes, S.M.1
Chi, M.M.2
Lowry, O.H.3
Gundersen, K.4
-
24
-
-
0016783679
-
Central core disease. A correlated genetic, histochemical, ultramicroscopic, and biochemical study
-
Isaacs H, Heffron JJ, Badenhorst M (1975) Central core disease. A correlated genetic, histochemical, ultramicroscopic, and biochemical study. J. Neurol. Neurosurg. Psychiatr. 38, 1177-1186.
-
(1975)
J. Neurol. Neurosurg. Psychiatr.
, vol.38
, pp. 1177-1186
-
-
Isaacs, H.1
Heffron, J.J.2
Badenhorst, M.3
-
26
-
-
0032145805
-
Fifty year follow-up of a patient with central core disease shows slow but definite progression
-
Lamont PJ, Dubowitz V, Landon DN, Davis M, Morgan-Hughes JA (1998) Fifty year follow-up of a patient with central core disease shows slow but definite progression. Neuromuscul. Disord. 8, 385-391.
-
(1998)
Neuromuscul. Disord.
, vol.8
, pp. 385-391
-
-
Lamont, P.J.1
Dubowitz, V.2
Landon, D.N.3
Davis, M.4
Morgan-Hughes, J.A.5
-
27
-
-
55849112676
-
Fiber type composition of cadaveric human rotator cuff muscles
-
Lovering RM, Russ DW (2008) Fiber type composition of cadaveric human rotator cuff muscles. J. Orthop. Sports Phys. Ther. 38, 674-680.
-
(2008)
J. Orthop. Sports Phys. Ther.
, vol.38
, pp. 674-680
-
-
Lovering, R.M.1
Russ, D.W.2
-
28
-
-
0033616718
-
+ release channel function and severe central core disease
-
+ release channel function and severe central core disease. Proc. Natl. Acad. Sci. U S A 96, 4164-4169.
-
(1999)
Proc. Natl. Acad. Sci. U S A
, vol.96
, pp. 4164-4169
-
-
Lynch, P.J.1
Tong, J.2
Lehane, M.3
Mallet, A.4
Giblin, L.5
Heffron, J.J.6
Vaughan, P.7
Zafra, G.8
MacLennan, D.H.9
McCarthy, T.V.10
-
29
-
-
0035888611
-
Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor
-
Monnier N, Romero NB, Lerale J, Landrieu P, Nivoche Y, Fardeau M, Lunardi J (2001) Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor. Hum. Mol. Genet. 10, 2581-2592.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 2581-2592
-
-
Monnier, N.1
Romero, N.B.2
Lerale, J.3
Landrieu, P.4
Nivoche, Y.5
Fardeau, M.6
Lunardi, J.7
-
30
-
-
0020501939
-
Ultrastructural changes after concentric and eccentric contractions of human muscle
-
Newham DJ, McPhail G, Mills KR, Edwards RH (1983) Ultrastructural changes after concentric and eccentric contractions of human muscle. J. Neurol. Sci. 61, 109-122.
-
(1983)
J. Neurol. Sci.
, vol.61
, pp. 109-122
-
-
Newham, D.J.1
McPhail, G.2
Mills, K.R.3
Edwards, R.H.4
-
31
-
-
85012650875
-
An Electron Microscope Study of Denervation Atrophy in Red and White Skeletal Muscle Fibers
-
Pellegrino C, Franzini C (1963) An Electron Microscope Study of Denervation Atrophy in Red and White Skeletal Muscle Fibers. J. Cell Biol. 17, 327-349.
-
(1963)
J. Cell Biol.
, vol.17
, pp. 327-349
-
-
Pellegrino, C.1
Franzini, C.2
-
32
-
-
0017835404
-
Myogenic and neurogenic contributions to the development of fast and slow twitch muscles in rat
-
Rubinstein NA, Kelly AM (1978) Myogenic and neurogenic contributions to the development of fast and slow twitch muscles in rat. Dev. Biol. 62, 473-485.
-
(1978)
Dev. Biol.
, vol.62
, pp. 473-485
-
-
Rubinstein, N.A.1
Kelly, A.M.2
-
33
-
-
0001313262
-
Nemaline Myopathy. a New Congenital Myopathy
-
Shy GM, Engel WK, Somers JE, Wanko T (1963) Nemaline Myopathy. a New Congenital Myopathy. Brain 86, 793-810.
-
(1963)
Brain
, vol.86
, pp. 793-810
-
-
Shy, G.M.1
Engel, W.K.2
Somers, J.E.3
Wanko, T.4
-
34
-
-
0028566846
-
Type IIx myosin heavy chain transcripts are expressed in type IIb fibers of human skeletal muscle
-
Smerdu V, Karsch-Mizrachi I, Campione M, Leinwand L, Schiaffino S (1994) Type IIx myosin heavy chain transcripts are expressed in type IIb fibers of human skeletal muscle. Am. J. Physiol. 267, C1723-C1728.
-
(1994)
Am. J. Physiol.
, vol.267
-
-
Smerdu, V.1
Karsch-Mizrachi, I.2
Campione, M.3
Leinwand, L.4
Schiaffino, S.5
-
35
-
-
0344826004
-
Plasticity of the transverse tubules following denervation and subsequent reinnervation in rat slow and fast muscle fibres
-
Takekura H, Tamaki H, Nishizawa T, Kasuga N (2003) Plasticity of the transverse tubules following denervation and subsequent reinnervation in rat slow and fast muscle fibres. J. Muscle Res. Cell Motil. 24, 439-451.
-
(2003)
J. Muscle Res. Cell Motil.
, vol.24
, pp. 439-451
-
-
Takekura, H.1
Tamaki, H.2
Nishizawa, T.3
Kasuga, N.4
-
36
-
-
0015881237
-
Central core disease. A study of clinically unaffected muscle
-
Telerman-Toppet N, Gerard JM, Coers C (1973) Central core disease. A study of clinically unaffected muscle. J. Neurol. Sci. 19, 207-223.
-
(1973)
J. Neurol. Sci.
, vol.19
, pp. 207-223
-
-
Telerman-Toppet, N.1
Gerard, J.M.2
Coers, C.3
-
39
-
-
44449105177
-
Single channel properties of heterotetrameric mutant RyR1 ion channels linked to core myopathies
-
Xu L, Wang Y, Yamaguchi N, Pasek DA, Meissner G (2008) Single channel properties of heterotetrameric mutant RyR1 ion channels linked to core myopathies. J. Biol. Chem. 283, 6321-6329.
-
(2008)
J. Biol. Chem.
, vol.283
, pp. 6321-6329
-
-
Xu, L.1
Wang, Y.2
Yamaguchi, N.3
Pasek, D.A.4
Meissner, G.5
-
40
-
-
33751094327
-
Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies
-
Zhou H, Brockington M, Jungbluth H, Monk D, Stanier P, Sewry CA, Moore GE, Muntoni F (2006) Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies. Am. J. Hum. Genet. 79, 859-868.
-
(2006)
Am. J. Hum. Genet.
, vol.79
, pp. 859-868
-
-
Zhou, H.1
Brockington, M.2
Jungbluth, H.3
Monk, D.4
Stanier, P.5
Sewry, C.A.6
Moore, G.E.7
Muntoni, F.8
-
41
-
-
34547757463
-
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies
-
Zhou H, Jungbluth H, Sewry CA, Feng L, Bertini E, Bushby K, Straub V, Roper H, Rose MR, Brockington M, Kinali M, Manzur A, Robb S, Appleton R, Messina S, D'Amico A, Quinlivan R, Swash M, Muller CR, Brown S, Treves S, Muntoni F (2007) Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain 130, 2024-2036.
-
(2007)
Brain
, vol.130
, pp. 2024-2036
-
-
Zhou, H.1
Jungbluth, H.2
Sewry, C.A.3
Feng, L.4
Bertini, E.5
Bushby, K.6
Straub, V.7
Roper, H.8
Rose, M.R.9
Brockington, M.10
Kinali, M.11
Manzur, A.12
Robb, S.13
Appleton, R.14
Messina, S.15
D'Amico, A.16
Quinlivan, R.17
Swash, M.18
Muller, C.R.19
Brown, S.20
Treves, S.21
Muntoni, F.22
more..
-
42
-
-
36749097954
-
+ release channel function and delays development in homozygous offspring of a mutant mouse line
-
+ release channel function and delays development in homozygous offspring of a mutant mouse line. Proc. Natl. Acad. Sci. U S A 104, 18537-18542.
-
(2007)
Proc. Natl. Acad. Sci. U S A
, vol.104
, pp. 18537-18542
-
-
Zvaritch, E.1
Depreux, F.2
Kraeva, N.3
Loy, R.E.4
Goonasekera, S.A.5
Boncompagni, S.6
Kraev, A.7
Gramolini, A.O.8
Dirksen, R.T.9
Franzini-Armstrong, C.10
Seidman, C.E.11
Seidman, J.G.12
Maclennan, D.H.13
-
43
-
-
76049085876
-
+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods
-
+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods. Proc. Natl. Acad. Sci. U S A 106, 21813-21818.
-
(2009)
Proc. Natl. Acad. Sci. U S A
, vol.106
, pp. 21813-21818
-
-
Zvaritch, E.1
Kraeva, N.2
Bombardier, E.3
McCloy, R.A.4
Depreux, F.5
Holmyard, D.6
Kraev, A.7
Seidman, C.E.8
Seidman, J.G.9
Tupling, A.R.10
MacLennan, D.H.11
|