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

Year Number of Results
1988 1
1992 1
1993 1
1995 1
1996 2
1997 8
1998 5
1999 4
2000 12
2001 27
2002 5
2003 10
2004 10
2005 10
2006 4
2007 8
2008 13
2009 6
2010 11
2011 14
2012 7
2013 12
2014 14
2015 10
2016 12
2017 12
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2020 13
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2023 11
2024 7

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281 results

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Page 1
Congenital Muscular Dystrophy and Congenital Myopathy.
Butterfield RJ. Butterfield RJ. Continuum (Minneap Minn). 2019 Dec;25(6):1640-1661. doi: 10.1212/CON.0000000000000792. Continuum (Minneap Minn). 2019. PMID: 31794464 Review.
PURPOSE OF REVIEW: Congenital muscular dystrophies and congenital myopathies are a heterogeneous group of disorders resulting in hypotonia, muscle weakness, and dystrophic or myopathic features on muscle biopsy. ...This article reviews the clinical and geneti …
PURPOSE OF REVIEW: Congenital muscular dystrophies and congenital myopathies are a heterogeneous group of disorders res …
Congenital myopathies: an update.
Claeys KG. Claeys KG. Dev Med Child Neurol. 2020 Mar;62(3):297-302. doi: 10.1111/dmcn.14365. Epub 2019 Oct 2. Dev Med Child Neurol. 2020. PMID: 31578728 Free article. Review.
They are subdivided by the predominant structural pathological change on muscle biopsy, resulting in five subgroups: (1) core myopathies; (2) nemaline myopathies; (3) centronuclear myopathies; (4) congenital fibre type disproportion myopathy …
They are subdivided by the predominant structural pathological change on muscle biopsy, resulting in five subgroups: (1) core myop …
Recent advances in nemaline myopathy.
Laitila J, Wallgren-Pettersson C. Laitila J, et al. Neuromuscul Disord. 2021 Oct;31(10):955-967. doi: 10.1016/j.nmd.2021.07.012. Epub 2021 Jul 24. Neuromuscul Disord. 2021. PMID: 34561123 Free article. Review.
The nemaline myopathies constitute a large proportion of the congenital or structural myopathies. Common to all patients is muscle weakness and the presence in the muscle biopsy of nemaline rods. The causative genes are at least twelve, encoding str …
The nemaline myopathies constitute a large proportion of the congenital or structural myopathies. Common to all …
Collagen VI in the Musculoskeletal System.
Di Martino A, Cescon M, D'Agostino C, Schilardi F, Sabatelli P, Merlini L, Faldini C. Di Martino A, et al. Int J Mol Sci. 2023 Mar 7;24(6):5095. doi: 10.3390/ijms24065095. Int J Mol Sci. 2023. PMID: 36982167 Free PMC article. Review.
Mutations in the genes encoding collagen VI main chains, COL6A1, COL6A2 and COL6A3, are responsible for a spectrum of congenital muscular disorders, namely Ullrich congenital muscular dystrophy (UCMD), Bethlem myopathy (BM) and myosclerosis myopathy (M …
Mutations in the genes encoding collagen VI main chains, COL6A1, COL6A2 and COL6A3, are responsible for a spectrum of congenital musc …
Nemaline myopathies: a current view.
Sewry CA, Laitila JM, Wallgren-Pettersson C. Sewry CA, et al. J Muscle Res Cell Motil. 2019 Jun;40(2):111-126. doi: 10.1007/s10974-019-09519-9. Epub 2019 Jun 21. J Muscle Res Cell Motil. 2019. PMID: 31228046 Free PMC article. Review.
Nemaline myopathies are a heterogenous group of congenital myopathies caused by de novo, dominantly or recessively inherited mutations in at least twelve genes. ...Nemaline myopathies are identified by the presence of structures that are rod-like or ov …
Nemaline myopathies are a heterogenous group of congenital myopathies caused by de novo, dominantly or recessively inhe …
A mutation update for the FLNC gene in myopathies and cardiomyopathies.
Verdonschot JAJ, Vanhoutte EK, Claes GRF, Helderman-van den Enden ATJM, Hoeijmakers JGJ, Hellebrekers DMEI, de Haan A, Christiaans I, Lekanne Deprez RH, Boen HM, van Craenenbroeck EM, Loeys BL, Hoedemaekers YM, Marcelis C, Kempers M, Brusse E, van Waning JI, Baas AF, Dooijes D, Asselbergs FW, Barge-Schaapveld DQCM, Koopman P, van den Wijngaard A, Heymans SRB, Krapels IPC, Brunner HG. Verdonschot JAJ, et al. Hum Mutat. 2020 Jun;41(6):1091-1111. doi: 10.1002/humu.24004. Epub 2020 Mar 20. Hum Mutat. 2020. PMID: 32112656 Free PMC article. Review.
Originally, FLNC variants were described in myofibrillar myopathy (MFM) patients. Later, high-throughput screening in cardiomyopathy cohorts determined a prominent role for FLNC in isolated hypertrophic and dilated cardiomyopathies (HCM and DCM). ...The appropriate functio …
Originally, FLNC variants were described in myofibrillar myopathy (MFM) patients. Later, high-throughput screening in cardiomyopathy …
Sporadic Late-Onset Nemaline Myopathy: Current Landscape.
Nicolau S, Milone M. Nicolau S, et al. Curr Neurol Neurosci Rep. 2023 Nov;23(11):777-784. doi: 10.1007/s11910-023-01311-0. Epub 2023 Oct 19. Curr Neurol Neurosci Rep. 2023. PMID: 37856049 Review.
PURPOSE OF REVIEW: Sporadic late-onset nemaline myopathy (SLONM) is a rare adult-onset, acquired, muscle disease that can be associated with monoclonal gammopathy or HIV infection. ...SLONM is a treatable myopathy, although its underlying etiology and pathomechanism …
PURPOSE OF REVIEW: Sporadic late-onset nemaline myopathy (SLONM) is a rare adult-onset, acquired, muscle disease that can be associat …
Congenital myopathies.
Younger DS. Younger DS. Handb Clin Neurol. 2023;195:533-561. doi: 10.1016/B978-0-323-98818-6.00027-3. Handb Clin Neurol. 2023. PMID: 37562885 Review.
The congenital myopathies are inherited muscle disorders characterized clinically by hypotonia and weakness, usually from birth, with a static or slowly progressive clinical course. Historically, the congenital myopathies have been classified according …
The congenital myopathies are inherited muscle disorders characterized clinically by hypotonia and weakness, usually from birt …
A review of core myopathy: central core disease, multiminicore disease, dusty core disease, and core-rod myopathy.
Ogasawara M, Nishino I. Ogasawara M, et al. Neuromuscul Disord. 2021 Oct;31(10):968-977. doi: 10.1016/j.nmd.2021.08.015. Epub 2021 Sep 17. Neuromuscul Disord. 2021. PMID: 34627702 Review.
Furthermore, the genes originally reported to cause nemaline myopathy, namely ACTA1, NEB, and TNNT1, have been recently associated with core-rod myopathy. Genetic analysis allows us to diagnose each core myopathy more accurately. In this review, we aim to pro …
Furthermore, the genes originally reported to cause nemaline myopathy, namely ACTA1, NEB, and TNNT1, have been recently associated wi …
Filamin C in cardiomyopathy: from physiological roles to DNA variants.
Song S, Shi A, Lian H, Hu S, Nie Y. Song S, et al. Heart Fail Rev. 2022 Jul;27(4):1373-1385. doi: 10.1007/s10741-021-10172-z. Epub 2021 Sep 17. Heart Fail Rev. 2022. PMID: 34535832 Review.
FLNC was first demonstrated to be a causal gene of myofibrillar myopathy; recently, it has been found that FLNC mutation plays a critical role in the pathogenesis of cardiomyopathy. ...
FLNC was first demonstrated to be a causal gene of myofibrillar myopathy; recently, it has been found that FLNC mutation plays a crit …
281 results