-
3
-
-
9044222886
-
A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
-
Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, et al. (1996) A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet 13: 175-182.
-
(1996)
Nat Genet
, vol.13
, pp. 175-182
-
-
Laporte, J.1
Hu, L.J.2
Kretz, C.3
Mandel, J.L.4
Kioschis, P.5
-
4
-
-
27644543614
-
Mutations in dynamin 2 cause dominant centronuclear myopathy
-
Bitoun M, Maugenre S, Jeannet PY, Lacene E, Ferrer X, et al. (2005) Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet 37: 1207-1209.
-
(2005)
Nat Genet
, vol.37
, pp. 1207-1209
-
-
Bitoun, M.1
Maugenre, S.2
Jeannet, P.Y.3
Lacene, E.4
Ferrer, X.5
-
5
-
-
34047270223
-
Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene
-
Jungbluth H, Zhou H, Sewry CA, Robb S, Treves S, et al. (2007) Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord 17: 338-345.
-
(2007)
Neuromuscul Disord
, vol.17
, pp. 338-345
-
-
Jungbluth, H.1
Zhou, H.2
Sewry, C.A.3
Robb, S.4
Treves, S.5
-
6
-
-
34548341774
-
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy
-
Nicot AS, Toussaint A, Tosch V, Kretz C, Wallgren-Pettersson C, et al. (2007) Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nat Genet 39: 1134-1139.
-
(2007)
Nat Genet
, vol.39
, pp. 1134-1139
-
-
Nicot, A.S.1
Toussaint, A.2
Tosch, V.3
Kretz, C.4
Wallgren-Pettersson, C.5
-
7
-
-
33750219395
-
A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy
-
Tosch V, Rohde HM, Tronchere H, Zanoteli E, Monroy N, et al. (2006) A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy. Hum Mol Genet 15: 3098-3106.
-
(2006)
Hum Mol Genet
, vol.15
, pp. 3098-3106
-
-
Tosch, V.1
Rohde, H.M.2
Tronchere, H.3
Zanoteli, E.4
Monroy, N.5
-
8
-
-
78249290502
-
RYR1 mutations are a common cause of congenital myopathies with central nuclei
-
Wilmshurst JM, Lillis S, Zhou H, Pillay K, Henderson H, et al. (2010) RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol 68: 717-726.
-
(2010)
Ann Neurol
, vol.68
, pp. 717-726
-
-
Wilmshurst, J.M.1
Lillis, S.2
Zhou, H.3
Pillay, K.4
Henderson, H.5
-
9
-
-
79951792420
-
Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization
-
Bevilacqua JA, Monnier N, Bitoun M, Eymard B, Ferreiro A, et al. (2011) Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. Neuropathol Appl Neurobiol 37: 271-284.
-
(2011)
Neuropathol Appl Neurobiol
, vol.37
, pp. 271-284
-
-
Bevilacqua, J.A.1
Monnier, N.2
Bitoun, M.3
Eymard, B.4
Ferreiro, A.5
-
10
-
-
13444264401
-
Phenotypic description of a canine centronuclear myopathy
-
Blot S, Tiret L, Devillaire AC, Fardeau M, Dreyfus PA, (2002) Phenotypic description of a canine centronuclear myopathy. J Neurol Sci 199: S9.
-
(2002)
J Neurol Sci
, vol.199
-
-
Blot, S.1
Tiret, L.2
Devillaire, A.C.3
Fardeau, M.4
Dreyfus, P.A.5
-
11
-
-
0042326410
-
The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromosome 2
-
Tiret L, Blot S, Kessler JL, Gaillot H, Breen M, et al. (2003) The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromosome 2. Hum Genet 113: 297-306 Epub 2003 Jul 2023.
-
(2003)
Hum Genet
, vol.113
, pp. 297-306
-
-
Tiret, L.1
Blot, S.2
Kessler, J.L.3
Gaillot, H.4
Breen, M.5
-
12
-
-
20444433182
-
SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs
-
Pelé M, Tiret L, Kessler JL, Blot S, Panthier JJ, (2005) SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs. Hum Mol Genet 14: 1417-1427.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 1417-1427
-
-
Pelé, M.1
Tiret, L.2
Kessler, J.L.3
Blot, S.4
Panthier, J.J.5
-
13
-
-
0017149859
-
A muscle disorder of Labrador retrievers characterized by deficiency of type II muscle fibers
-
Kramer JW, Hegreberg GA, Bryan GM, Meyers K, Ott RL, (1976) A muscle disorder of Labrador retrievers characterized by deficiency of type II muscle fibers. J Am Vet Med Assoc 169: 817-820.
-
(1976)
J Am Vet Med Assoc
, vol.169
, pp. 817-820
-
-
Kramer, J.W.1
Hegreberg, G.A.2
Bryan, G.M.3
Meyers, K.4
Ott, R.L.5
-
14
-
-
0021764121
-
Generalised muscle weakness in the Labrador retriever
-
McKerrell RE, Anderson JR, Herrtage ME, Littlewood JD, Palmer AC, (1984) Generalised muscle weakness in the Labrador retriever. Vet Rec 115: 276.
-
(1984)
Vet Rec
, vol.115
, pp. 276
-
-
McKerrell, R.E.1
Anderson, J.R.2
Herrtage, M.E.3
Littlewood, J.D.4
Palmer, A.C.5
-
15
-
-
0024042430
-
Myopathy in a Labrador retriever
-
Watson AD, Farrow BR, Middleton DJ, Smyth JB, (1988) Myopathy in a Labrador retriever. Aust Vet J 65: 226-227.
-
(1988)
Aust Vet J
, vol.65
, pp. 226-227
-
-
Watson, A.D.1
Farrow, B.R.2
Middleton, D.J.3
Smyth, J.B.4
-
16
-
-
0036907160
-
Genetic aspects of labrador retriever myopathy
-
Bley T, Gaillard C, Bilzer T, Braund KG, Faissler D, et al. (2002) Genetic aspects of labrador retriever myopathy. Res Vet Sci 73: 231-236.
-
(2002)
Res Vet Sci
, vol.73
, pp. 231-236
-
-
Bley, T.1
Gaillard, C.2
Bilzer, T.3
Braund, K.G.4
Faissler, D.5
-
17
-
-
0029919932
-
Inherited myopathy in a litter of Labrador retrievers
-
Gortel K, Houston DM, Kuiken T, Fries CL, Boisvert B, (1996) Inherited myopathy in a litter of Labrador retrievers. Can Vet J 37: 108-110.
-
(1996)
Can Vet J
, vol.37
, pp. 108-110
-
-
Gortel, K.1
Houston, D.M.2
Kuiken, T.3
Fries, C.L.4
Boisvert, B.5
-
18
-
-
0035144734
-
Evaluation of the dystrophin-glycoprotein complex, alpha-actinin, dysferlin and calpain 3 in an autosomal recessive muscular dystrophy in Labrador retrievers
-
Olby NJ, Sharp NJ, Anderson LV, Kunkel LM, Bonnemann CG, (2001) Evaluation of the dystrophin-glycoprotein complex, alpha-actinin, dysferlin and calpain 3 in an autosomal recessive muscular dystrophy in Labrador retrievers. Neuromuscul Disord 11: 41-49.
-
(2001)
Neuromuscul Disord
, vol.11
, pp. 41-49
-
-
Olby, N.J.1
Sharp, N.J.2
Anderson, L.V.3
Kunkel, L.M.4
Bonnemann, C.G.5
-
19
-
-
0022743305
-
Hereditary myopathy in Labrador retrievers: a morphologic study
-
McKerrell RE, Braund KG, (1986) Hereditary myopathy in Labrador retrievers: a morphologic study. Vet Pathol 23: 411-417.
-
(1986)
Vet Pathol
, vol.23
, pp. 411-417
-
-
McKerrell, R.E.1
Braund, K.G.2
-
20
-
-
84985407422
-
Hereditary myopathy in Labrador Retrievers: clinical variations
-
McKerrell RE, Braund KG, (1987) Hereditary myopathy in Labrador Retrievers: clinical variations. J Small Anim Pract 28: 479-489.
-
(1987)
J Small Anim Pract
, vol.28
, pp. 479-489
-
-
McKerrell, R.E.1
Braund, K.G.2
-
21
-
-
31944436548
-
Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog
-
Clark LA, Wahl JM, Rees CA, Murphy KE, (2006) Retrotransposon insertion in SILV is responsible for merle patterning of the domestic dog. Proc Natl Acad Sci U S A 103: 1376-1381.
-
(2006)
Proc Natl Acad Sci U S A
, vol.103
, pp. 1376-1381
-
-
Clark, L.A.1
Wahl, J.M.2
Rees, C.A.3
Murphy, K.E.4
-
22
-
-
69949140292
-
Human Y chromosome base-substitution mutation rate measured by direct sequencing in a deep-rooting pedigree
-
Xue Y, Wang Q, Long Q, Ng BL, Swerdlow H, et al. (2009) Human Y chromosome base-substitution mutation rate measured by direct sequencing in a deep-rooting pedigree. Curr Biol 19: 1453-1457.
-
(2009)
Curr Biol
, vol.19
, pp. 1453-1457
-
-
Xue, Y.1
Wang, Q.2
Long, Q.3
Ng, B.L.4
Swerdlow, H.5
-
23
-
-
80052058222
-
[Frequency of gen defects in selected European Retriever-populations]
-
Owczarek-Lipska M, Thomas A, Andre C, Holzer S, Leeb T, (2011) [Frequency of gen defects in selected European Retriever-populations]. Schweiz Arch Tierheilkd 153: 418-420.
-
(2011)
Schweiz Arch Tierheilkd
, vol.153
, pp. 418-420
-
-
Owczarek-Lipska, M.1
Thomas, A.2
Andre, C.3
Holzer, S.4
Leeb, T.5
-
24
-
-
28644447707
-
Genome sequence, comparative analysis and haplotype structure of the domestic dog
-
Lindblad-Toh K, Wade CM, Mikkelsen TS, Karlsson EK, Jaffe DB, et al. (2005) Genome sequence, comparative analysis and haplotype structure of the domestic dog. Nature 438: 803-819.
-
(2005)
Nature
, vol.438
, pp. 803-819
-
-
Lindblad-Toh, K.1
Wade, C.M.2
Mikkelsen, T.S.3
Karlsson, E.K.4
Jaffe, D.B.5
-
25
-
-
84867158594
-
Retriver Field Trials
-
In: Ziessow BW, editor, Neptune City: T.F.H. Publications, Inc
-
Knapp MC (1995) Retriver Field Trials. In: Ziessow BW, editor. The Official Book of the Labarador Retriever. Neptune City: T.F.H. Publications, Inc. pp. 181-204.
-
(1995)
The Official Book of the Labarador Retriever
, pp. 181-204
-
-
Knapp, M.C.1
-
26
-
-
46349097361
-
Membrane traffic and muscle: lessons from human disease
-
Dowling JJ, Gibbs EM, Feldman EL, (2008) Membrane traffic and muscle: lessons from human disease. Traffic 9: 1035-1043.
-
(2008)
Traffic
, vol.9
, pp. 1035-1043
-
-
Dowling, J.J.1
Gibbs, E.M.2
Feldman, E.L.3
-
27
-
-
84860562008
-
Defective membrane remodeling in neuromuscular diseases: insights from animal models
-
Cowling BS, Toussaint A, Muller J, Laporte J, (2012) Defective membrane remodeling in neuromuscular diseases: insights from animal models. PLoS Genet 8: e1002595.
-
(2012)
PLoS Genet
, vol.8
-
-
Cowling, B.S.1
Toussaint, A.2
Muller, J.3
Laporte, J.4
-
28
-
-
79451471885
-
Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies
-
Toussaint A, Cowling BS, Hnia K, Mohr M, Oldfors A, et al. (2011) Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies. Acta Neuropathol (Berl) 121: 253-266.
-
(2011)
Acta Neuropathol (Berl)
, vol.121
, pp. 253-266
-
-
Toussaint, A.1
Cowling, B.S.2
Hnia, K.3
Mohr, M.4
Oldfors, A.5
-
29
-
-
78650942651
-
Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle
-
Hnia K, Tronchere H, Tomczak KK, Amoasii L, Schultz P, et al. (2011) Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle. The Journal of clinical investigation 121: 70-85.
-
(2011)
The Journal of Clinical Investigation
, vol.121
, pp. 70-85
-
-
Hnia, K.1
Tronchere, H.2
Tomczak, K.K.3
Amoasii, L.4
Schultz, P.5
-
30
-
-
0035890136
-
Amphiphysin is necessary for organization of the excitation-contraction coupling machinery of muscles, but not for synaptic vesicle endocytosis in Drosophila
-
Razzaq A, Robinson IM, McMahon HT, Skepper JN, Su Y, et al. (2001) Amphiphysin is necessary for organization of the excitation-contraction coupling machinery of muscles, but not for synaptic vesicle endocytosis in Drosophila. Genes & development 15: 2967-2979.
-
(2001)
Genes & Development
, vol.15
, pp. 2967-2979
-
-
Razzaq, A.1
Robinson, I.M.2
McMahon, H.T.3
Skepper, J.N.4
Su, Y.5
-
31
-
-
73249136944
-
T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase
-
Al-Qusairi L, Weiss N, Toussaint A, Berbey C, Messaddeq N, et al. (2009) T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase. Proc Natl Acad Sci U S A 106: 18763-18768.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 18763-18768
-
-
Al-Qusairi, L.1
Weiss, N.2
Toussaint, A.3
Berbey, C.4
Messaddeq, N.5
-
32
-
-
67349251211
-
Deficiency of MIP/MTMR14 phosphatase induces a muscle disorder by disrupting Ca(2+) homeostasis
-
Shen J, Yu WM, Brotto M, Scherman JA, Guo C, et al. (2009) Deficiency of MIP/MTMR14 phosphatase induces a muscle disorder by disrupting Ca(2+) homeostasis. Nat Cell Biol 11: 769-776.
-
(2009)
Nat Cell Biol
, vol.11
, pp. 769-776
-
-
Shen, J.1
Yu, W.M.2
Brotto, M.3
Scherman, J.A.4
Guo, C.5
-
33
-
-
61449203897
-
Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy
-
Dowling JJ, Vreede AP, Low SE, Gibbs EM, Kuwada JY, et al. (2009) Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy. PLoS Genet 5: e1000372.
-
(2009)
PLoS Genet
, vol.5
-
-
Dowling, J.J.1
Vreede, A.P.2
Low, S.E.3
Gibbs, E.M.4
Kuwada, J.Y.5
-
34
-
-
79959246454
-
Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness
-
Cowling BS, Toussaint A, Amoasii L, Koebel P, Ferry A, et al. (2011) Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness. The American journal of pathology 178: 2224-2235.
-
(2011)
The American Journal of Pathology
, vol.178
, pp. 2224-2235
-
-
Cowling, B.S.1
Toussaint, A.2
Amoasii, L.3
Koebel, P.4
Ferry, A.5
-
35
-
-
0034703432
-
Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway
-
Blondeau F, Laporte J, Bodin S, Superti-Furga G, Payrastre B, et al. (2000) Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway. Hum Mol Genet 9: 2223-2229.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2223-2229
-
-
Blondeau, F.1
Laporte, J.2
Bodin, S.3
Superti-Furga, G.4
Payrastre, B.5
-
36
-
-
0028200113
-
Aberrant arrested in maturation neuromuscular junctions in centronuclear myopathy
-
Fidzianska A, Goebel HH, (1994) Aberrant arrested in maturation neuromuscular junctions in centronuclear myopathy. J Neurol Sci 124: 83-88.
-
(1994)
J Neurol Sci
, vol.124
, pp. 83-88
-
-
Fidzianska, A.1
Goebel, H.H.2
-
37
-
-
84870051787
-
Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models
-
Dowling JJ, Joubert R, Low SE, Durban AN, Messaddeq N, et al. (2012) Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models. Disease models & mechanisms.
-
(2012)
Disease Models & Mechanisms
-
-
Dowling, J.J.1
Joubert, R.2
Low, S.E.3
Durban, A.N.4
Messaddeq, N.5
-
38
-
-
34547947625
-
A molecular caliper mechanism for determining very long-chain fatty acid length
-
Denic V, Weissman JS, (2007) A molecular caliper mechanism for determining very long-chain fatty acid length. Cell 130: 663-677.
-
(2007)
Cell
, vol.130
, pp. 663-677
-
-
Denic, V.1
Weissman, J.S.2
-
39
-
-
45549086681
-
Characterization of four mammalian 3-hydroxyacyl-CoA dehydratases involved in very long-chain fatty acid synthesis
-
Ikeda M, Kanao Y, Yamanaka M, Sakuraba H, Mizutani Y, et al. (2008) Characterization of four mammalian 3-hydroxyacyl-CoA dehydratases involved in very long-chain fatty acid synthesis. FEBS Lett 582: 2435-2440.
-
(2008)
FEBS Lett
, vol.582
, pp. 2435-2440
-
-
Ikeda, M.1
Kanao, Y.2
Yamanaka, M.3
Sakuraba, H.4
Mizutani, Y.5
-
40
-
-
77951910657
-
Sphingolipids and gangliosides of the nervous system in membrane function and dysfunction
-
Posse de Chaves E, Sipione S, (2010) Sphingolipids and gangliosides of the nervous system in membrane function and dysfunction. FEBS Lett 584: 1748-1759.
-
(2010)
FEBS Lett
, vol.584
, pp. 1748-1759
-
-
Posse de Chaves, E.1
Sipione, S.2
-
41
-
-
45549088118
-
Membrane topology and essential amino acid residues of Phs1, a 3-hydroxyacyl-CoA dehydratase involved in very long-chain fatty acid elongation
-
Kihara A, Sakuraba H, Ikeda M, Denpoh A, Igarashi Y, (2008) Membrane topology and essential amino acid residues of Phs1, a 3-hydroxyacyl-CoA dehydratase involved in very long-chain fatty acid elongation. The Journal of biological chemistry 283: 11199-11209.
-
(2008)
The Journal of Biological Chemistry
, vol.283
, pp. 11199-11209
-
-
Kihara, A.1
Sakuraba, H.2
Ikeda, M.3
Denpoh, A.4
Igarashi, Y.5
-
42
-
-
77957067406
-
MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers
-
Beggs AH, Bohm J, Snead E, Kozlowski M, Maurer M, et al. (2010) MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers. Proc Natl Acad Sci U S A 107: 14697-14702.
-
(2010)
Proc Natl Acad Sci U S A
, vol.107
, pp. 14697-14702
-
-
Beggs, A.H.1
Bohm, J.2
Snead, E.3
Kozlowski, M.4
Maurer, M.5
|