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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1966 1
1967 2
1968 2
1969 4
1970 4
1971 2
1972 3
1973 2
1974 1
1975 6
1976 8
1977 6
1978 8
1979 8
1980 6
1981 6
1982 10
1983 6
1984 8
1985 6
1986 7
1987 11
1988 4
1989 7
1990 9
1991 12
1992 7
1993 9
1994 12
1995 12
1996 17
1997 12
1998 21
1999 11
2000 15
2001 15
2002 21
2003 29
2004 10
2005 19
2006 14
2007 25
2008 25
2009 18
2010 23
2011 33
2012 36
2013 46
2014 35
2015 34
2016 47
2017 40
2018 39
2019 42
2020 42
2021 35
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827 results
Results by year
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Page 1
Congenital myopathies and muscular dystrophies.
Gilbreath HR, Castro D, Iannaccone ST. Gilbreath HR, et al. Neurol Clin. 2014 Aug;32(3):689-703, viii. doi: 10.1016/j.ncl.2014.04.006. Neurol Clin. 2014. PMID: 25037085 Review.
To best illustrate the clinical spectrum and diagnostic algorithm for these diseases, this article presents 5 cases, including Ullrich congenital muscular dystrophy, nemaline myopathy, centronuclear myopathy, merosin deficiency congenital muscular dystrophy, and core myopa …
To best illustrate the clinical spectrum and diagnostic algorithm for these diseases, this article presents 5 cases, including Ullrich conge …
Centronuclear (myotubular) myopathy.
Jungbluth H, Wallgren-Pettersson C, Laporte J. Jungbluth H, et al. Orphanet J Rare Dis. 2008 Sep 25;3:26. doi: 10.1186/1750-1172-3-26. Orphanet J Rare Dis. 2008. PMID: 18817572 Free PMC article. Review.
Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterised by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy.The incidence of X-linked myotubular myopathy is estimated at 2/100000 male births but epidem
Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterised by clinical features of a congenital myopathy and c
X-linked myotubular and centronuclear myopathies.
Pierson CR, Tomczak K, Agrawal P, Moghadaszadeh B, Beggs AH. Pierson CR, et al. J Neuropathol Exp Neurol. 2005 Jul;64(7):555-64. doi: 10.1097/01.jnen.0000171653.17213.2e. J Neuropathol Exp Neurol. 2005. PMID: 16042307 Review.
Recent work has significantly enhanced our understanding of the centronuclear myopathies and, in particular, myotubular myopathy. These myopathies share similar morphologic appearances with other diseases, namely the presence of hypotrophic myofibers with prominent …
Recent work has significantly enhanced our understanding of the centronuclear myopathies and, in particular, myotubular myopat …
Autophagy Defects in Skeletal Myopathies.
Margeta M. Margeta M. Annu Rev Pathol. 2020 Jan 24;15:261-285. doi: 10.1146/annurev-pathmechdis-012419-032618. Epub 2019 Oct 8. Annu Rev Pathol. 2020. PMID: 31594457 Review.
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
Schartner V, Romero NB, Donkervoort S, Treves S, Munot P, Pierson TM, Dabaj I, Malfatti E, Zaharieva IT, Zorzato F, Abath Neto O, Brochier G, Lornage X, Eymard B, Taratuto AL, Böhm J, Gonorazky H, Ramos-Platt L, Feng L, Phadke R, Bharucha-Goebel DX, Sumner CJ, Bui MT, Lacene E, Beuvin M, Labasse C, Dondaine N, Schneider R, Thompson J, Boland A, Deleuze JF, Matthews E, Pakleza AN, Sewry CA, Biancalana V, Quijano-Roy S, Muntoni F, Fardeau M, Bönnemann CG, Laporte J. Schartner V, et al. Acta Neuropathol. 2017 Apr;133(4):517-533. doi: 10.1007/s00401-016-1656-8. Epub 2016 Dec 23. Acta Neuropathol. 2017. PMID: 28012042
Myotubular/centronuclear myopathy and central core disease.
Fujimura-Kiyono C, Racz GZ, Nishino I. Fujimura-Kiyono C, et al. Neurol India. 2008 Jul-Sep;56(3):325-32. doi: 10.4103/0028-3886.43451. Neurol India. 2008. PMID: 18974559 Free article. Review.
Although the clinical symptoms may seem homogenous, the genetic basis is remarkably variable. This review will focus on myotubular myopathy, centronuclear myopathy, central core disease, and congenital neuromuscular disease with uniform Type 1 fiber, myopathies that …
Although the clinical symptoms may seem homogenous, the genetic basis is remarkably variable. This review will focus on myotubular my …
Centronuclear ("myotubular") myopathy.
Munsat TL, Thompson LR, Coleman RF. Munsat TL, et al. Arch Neurol. 1969 Feb;20(2):120-31. doi: 10.1001/archneur.1969.00480080020002. Arch Neurol. 1969. PMID: 5767012 No abstract available.
[Retracted] Clinical, pathological and genetic characteristics of autosomal dominant inherited dynamin 2 centronuclear myopathy.
Liu X, Wu H, Gong J, Wang T, Yan C. Liu X, et al. Mol Med Rep. 2016 Jul;14(1):613. doi: 10.3892/mmr.2016.5267. Epub 2016 May 13. Mol Med Rep. 2016. PMID: 27176730 Free PMC article.
We wish to retract our article entitled 'Clinical, pathological and genetic characteristics of autosomal dominant inherited dynamin 2 centronuclear myopathy' published in Molecular Medicine Reports 13: 4273-4278, 2016. ...
We wish to retract our article entitled 'Clinical, pathological and genetic characteristics of autosomal dominant inherited dynamin 2 cen
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