Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1987 1
1988 1
1989 1
1990 1
2000 1
2009 1
2012 1
2013 1
2014 1
2015 1
2016 1
2017 2
2021 2
2022 1
2023 0

Text availability

Article attribute

Article type

Publication date

Search Results

15 results

Results by year

Filters applied: . Clear all
Page 1
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. ...Here, we suggest a renewed clinical classification to replace the original one, summarise what is known about the pathogenesis from mutations in each causativ …
The nemaline myopathies constitute a large proportion of the congenital or structural myopathies. ...Here, we suggest a …
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 …
Furthermore, the genes originally reported to cause nemaline myopathy, namely ACTA1, NEB, and TNNT1, have been recently associ …
Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases.
Schnitzler LJ, Schreckenbach T, Nadaj-Pakleza A, Stenzel W, Rushing EJ, Van Damme P, Ferbert A, Petri S, Hartmann C, Bornemann A, Meisel A, Petersen JA, Tousseyn T, Thal DR, Reimann J, De Jonghe P, Martin JJ, Van den Bergh PY, Schulz JB, Weis J, Claeys KG. Schnitzler LJ, et al. Orphanet J Rare Dis. 2017 May 11;12(1):86. doi: 10.1186/s13023-017-0640-2. Orphanet J Rare Dis. 2017. PMID: 28490364 Free PMC article. Review.
BACKGROUND: Sporadic late-onset nemaline myopathy (SLONM) is a rare, late-onset muscle disorder, characterized by the presence of nemaline rods in muscle fibers. ...METHODS: We studied the clinico-pathological features, treatment and outcome in a large cohort …
BACKGROUND: Sporadic late-onset nemaline myopathy (SLONM) is a rare, late-onset muscle disorder, characterized by the presence …
Nemaline myopathies: State of the art.
Malfatti E, Romero NB. Malfatti E, et al. Rev Neurol (Paris). 2016 Oct;172(10):614-619. doi: 10.1016/j.neurol.2016.08.004. Epub 2016 Sep 19. Rev Neurol (Paris). 2016. PMID: 27659899 Review.
Nemaline myopathy (NM) is one of the most common forms of congenital myopathy. The condition is defined by the histopathological finding of nemaline bodies (rods) on muscle biopsy and is associated with hypotonia and muscle weakness. ...
Nemaline myopathy (NM) is one of the most common forms of congenital myopathy. The condition is defined by the histopat
Congenital myopathy with cap-like structures and nemaline rods: case report and literature review.
Piteau SJ, Rossiter JP, Smith RG, MacKenzie JJ. Piteau SJ, et al. Pediatr Neurol. 2014 Aug;51(2):192-7. doi: 10.1016/j.pediatrneurol.2014.04.002. Epub 2014 Apr 12. Pediatr Neurol. 2014. PMID: 25079567 Review.
METHODS: We describe a 10-year-old boy with cap myopathy and contrast him with 20 other individuals reported in the literature. ...CONCLUSION: Our patient has a more severe phenotype than most reported patients and is the first patient with cap myopathy to ha …
METHODS: We describe a 10-year-old boy with cap myopathy and contrast him with 20 other individuals reported in the literature …
Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature.
Waisayarat J, Suriyonplengsaeng C, Khongkhatithum C, Rochanawutanon M. Waisayarat J, et al. Diagn Pathol. 2015 Apr 16;10:27. doi: 10.1186/s13000-015-0270-8. Diagn Pathol. 2015. PMID: 25890230 Free PMC article. Review.
INTRODUCTION: Nemaline myopathy is a rare genetic muscle disorder defined by the presence of nemaline rods in the muscle fibre sarcoplasm. Congenital nemaline myopathy is the most serious form of the disease's spectrum. ...
INTRODUCTION: Nemaline myopathy is a rare genetic muscle disorder defined by the presence of nemaline rods in the muscl …
Congenital myopathies: clinical phenotypes and new diagnostic tools.
Cassandrini D, Trovato R, Rubegni A, Lenzi S, Fiorillo C, Baldacci J, Minetti C, Astrea G, Bruno C, Santorelli FM; Italian Network on Congenital Myopathies. Cassandrini D, et al. Ital J Pediatr. 2017 Nov 15;43(1):101. doi: 10.1186/s13052-017-0419-z. Ital J Pediatr. 2017. PMID: 29141652 Free PMC article. Review.
Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Historically, congenital myopathies have been classified on the basis of major m …
Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from birth, …
Electromyography in congenital nemaline myopathy.
Wallgren-Pettersson C, Sainio K, Salmi T. Wallgren-Pettersson C, et al. Muscle Nerve. 1989 Jul;12(7):587-93. doi: 10.1002/mus.880120710. Muscle Nerve. 1989. PMID: 2674705 Review.
To clarify the discrepancies between earlier reports of electromyography (EMG) in congenital nemaline myopathy (CNM), conventional electromyography was done on 13 patients with CNM, and results were compared with those of 18 earlier EMG examinations of the same pati …
To clarify the discrepancies between earlier reports of electromyography (EMG) in congenital nemaline myopathy (CNM), conventi …
The Mechanisms of Thin Filament Assembly and Length Regulation in Muscles.
Szikora S, Görög P, Mihály J. Szikora S, et al. Int J Mol Sci. 2022 May 10;23(10):5306. doi: 10.3390/ijms23105306. Int J Mol Sci. 2022. PMID: 35628117 Free PMC article. Review.
Mutations affecting these factors can alter the length of thin filaments, and in human cases, many of them are linked to debilitating diseases such as nemaline myopathy and dilated cardiomyopathy....
Mutations affecting these factors can alter the length of thin filaments, and in human cases, many of them are linked to debilitating diseas …
Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms.
Nowak KJ, Ravenscroft G, Laing NG. Nowak KJ, et al. Acta Neuropathol. 2013 Jan;125(1):19-32. doi: 10.1007/s00401-012-1019-z. Epub 2012 Jul 24. Acta Neuropathol. 2013. PMID: 22825594 Free article. Review.
Mutations in the skeletal muscle alpha-actin gene (ACTA1) cause a range of congenital myopathies characterised by muscle weakness and specific skeletal muscle structural lesions. Actin accumulations, nemaline and intranuclear bodies, fibre-type disproportion, cores, …
Mutations in the skeletal muscle alpha-actin gene (ACTA1) cause a range of congenital myopathies characterised by muscle weakness and …
15 results