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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.
RECENT FINDINGS: Historically, diagnoses of congenital muscular dystrophy and congenital myopathy have been made by clinical features and histopathology; however, recent advances in genetics have changed diagnostic practice by relying more heavily on genetic findings. ...S …
RECENT FINDINGS: Historically, diagnoses of congenital muscular dystrophy and congenital myopathy have been made by clinical features …
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.
Wallgren-Pettersson C, Sewry CA, Nowak KJ, Laing NG. Wallgren-Pettersson C, et al. Semin Pediatr Neurol. 2011 Dec;18(4):230-8. doi: 10.1016/j.spen.2011.10.004. Semin Pediatr Neurol. 2011. PMID: 22172418 Review.
Nemaline myopathy constitutes a continuous spectrum of primary skeletal muscle disorders named after the Greek word for thread, nema. ...The 2 most common causes of nemaline myopathy are recessive mutations in nebulin and de novo dominant mutations in
Nemaline myopathy constitutes a continuous spectrum of primary skeletal muscle disorders named after the Greek word for thread
Review of Cardiac Disease in Nemaline Myopathy.
Finsterer J, Stöllberger C. Finsterer J, et al. Pediatr Neurol. 2015 Dec;53(6):473-7. doi: 10.1016/j.pediatrneurol.2015.08.014. Epub 2015 Aug 28. Pediatr Neurol. 2015. PMID: 26507755 Review.
OBJECTIVES: Little is known about the type, frequency, severity, treatment, and outcome of cardiac disease in nemaline myopathy. This review summarizes and discusses findings concerning the type, prevalence, diagnosis, treatment, and outcome of cardiac involvement i …
OBJECTIVES: Little is known about the type, frequency, severity, treatment, and outcome of cardiac disease in nemaline myopathy
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.
His muscle biopsy at 3 months revealed a nemaline myopathy and secondary fiber-type disproportion with type 1 hypotrophy and predominance. ...CONCLUSION: Our patient has a more severe phenotype than most reported patients and is the first patient with cap myopath
His muscle biopsy at 3 months revealed a nemaline myopathy and secondary fiber-type disproportion with type 1 hypotrophy and p …
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. ...To date, 11 gen
Nemaline myopathy (NM) is one of the most common forms of congenital myopathy. The condition is defined by the histopat
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. ...CONCLUSION: To the best of our knowledge, congenital nemaline myopathy with primary pulmonary lymphangi …
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.
We reviewed clinical and genetic forms of congenital myopathy and defined possible strategies to improve cost-effectiveness in histological and imaging diagnosis....
We reviewed clinical and genetic forms of congenital myopathy and defined possible strategies to improve cost-effectiveness in histol …
Ultrasonography, CT, and MRI of muscles in congenital nemaline myopathy.
Wallgren-Pettersson C, Kivisaari L, Jääskeläinen J, Lamminen A, Holmberg C. Wallgren-Pettersson C, et al. Pediatr Neurol. 1990 Jan-Feb;6(1):20-8. doi: 10.1016/0887-8994(90)90074-b. Pediatr Neurol. 1990. PMID: 2178616 Review.
Twelve patients with congenital nemaline myopathy were examined by ultrasonography and computed tomography (CT) and 4 of them by low-field magnetic resonance imaging (MRI) to investigate the distribution and nature of muscle involvement and to evaluate the yield of …
Twelve patients with congenital nemaline myopathy were examined by ultrasonography and computed tomography (CT) and 4 of them …
Pregnancy and Delivery in Women With Congenital Myopathies.
Rudnik-Schöneborn S, Wallgren-Pettersson C. Rudnik-Schöneborn S, et al. Semin Pediatr Neurol. 2019 Apr;29:23-29. doi: 10.1016/j.spen.2019.01.006. Epub 2019 Jan 16. Semin Pediatr Neurol. 2019. PMID: 31060722 Review.
In this review, we summarize the medical literature along with updates of our own data. Included are patients with nemaline myopathy (n = 11), central core disease (n = 6), multi-minicore disease (n = 2), cytoplasmic body myopathy (n = 1), and congenit …
In this review, we summarize the medical literature along with updates of our own data. Included are patients with nemaline myopat
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