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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 14
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768 results
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Page 1
Centronuclear myopathies under attack: A plethora of therapeutic targets.
Tasfaout H, Cowling BS, Laporte J. Tasfaout H, et al. J Neuromuscul Dis. 2018;5(4):387-406. doi: 10.3233/JND-180309. J Neuromuscul Dis. 2018. PMID: 30103348 Free PMC article. Review.
Mutations in the myotubularin phosphoinositides phosphatase, the GTPase dynamin 2, or amphiphysin 2 have been identified to cause respectively X-linked centronuclear myopathies (also called myotubular myopathy) or autosomal dominant and recessive forms. Mutations in …
Mutations in the myotubularin phosphoinositides phosphatase, the GTPase dynamin 2, or amphiphysin 2 have been identified to cause respective …
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 …
The genetics of congenital myopathies.
Gonorazky HD, Bönnemann CG, Dowling JJ. Gonorazky HD, et al. Handb Clin Neurol. 2018;148:549-564. doi: 10.1016/B978-0-444-64076-5.00036-3. Handb Clin Neurol. 2018. PMID: 29478600 Review.
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.
This review will focus on myotubular myopathy, centronuclear myopathy, central core disease, and congenital neuromuscular disease with uniform Type 1 fiber, myopathies that are subjects of our ongoing examinations....
This review will focus on myotubular myopathy, centronuclear myopathy, central core disease, and congenital neuromuscular dise …
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. ...In autosomal recessive centronuclear myopathy (AR CNM), the onset of weakness typically occurs in infancy or early childhood. …
Recent work has significantly enhanced our understanding of the centronuclear myopathies and, in particular, myotubular myopat …
Different in vivo impacts of dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or centronuclear myopathy.
Massana Muñoz X, Buono S, Koebel P, Laporte J, Cowling BS. Massana Muñoz X, et al. Hum Mol Genet. 2019 Dec 15;28(24):4067-4077. doi: 10.1093/hmg/ddz249. Hum Mol Genet. 2019. PMID: 31628461
Dominant mutations in DNM2 result in tissue-specific diseases affecting peripheral nerves (Charcot-Marie-Tooth neuropathy, CMT) or skeletal muscles (centronuclear myopathy, CNM). ...Histological, ultrastructural and molecular analyses pointed to key pathways uncovering the …
Dominant mutations in DNM2 result in tissue-specific diseases affecting peripheral nerves (Charcot-Marie-Tooth neuropathy, CMT) or skeletal …
New pharmacotherapies for genetic neuromuscular disorders: opportunities and challenges.
Ricci F, Vacchetti M, Brusa C, Vercelli L, Davico C, Vitiello B, Mongini T. Ricci F, et al. Expert Rev Clin Pharmacol. 2019 Aug;12(8):757-770. doi: 10.1080/17512433.2019.1634543. Epub 2019 Jul 2. Expert Rev Clin Pharmacol. 2019. PMID: 31220956 Review.
Area covered: We provide an overview of novel pharmacological approaches to the main NMDs, including Duchenne muscular dystrophy (DMD), spina muscular atrophy (SMA), X-linked myotubular myopathy, Pompe disease (PD), and myotonic dystrophy type 1, with attention to both ach …
Area covered: We provide an overview of novel pharmacological approaches to the main NMDs, including Duchenne muscular dystrophy (DMD), spin …
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
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
X-Linked Myotubular Myopathy.
Dowling JJ, Lawlor MW, Das S. Dowling JJ, et al. 2002 Feb 25 [updated 2018 Aug 23]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. GeneReviews®. 1993–2020. PMID: 20301605 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: X-linked myotubular myopathy (X-MTM), also known as myotubular myopathy (MTM), is characterized by muscle weakness that ranges from severe to mild. ...
CLINICAL CHARACTERISTICS: X-linked myotubular myopathy (X-MTM), also known as myotubular myopathy (MTM), is characterized by m …
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