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Chemotherapy-based approach is the preferred treatment for sporadic late-onset nemaline myopathy with a monoclonal protein.
Kotchetkov R, Susman D, Bhutani D, Broch K, Dispenzieri A, Buadi FK. Kotchetkov R, et al. Int J Cancer. 2021 Jun 1;148(11):2807-2814. doi: 10.1002/ijc.33483. Epub 2021 Feb 12. Int J Cancer. 2021. PMID: 33529362 Free article.
Sporadic late-onset nemaline myopathy (SLONM) associated with monoclonal protein (MP) is a rare disease with an aggressive, and often fatal course. ...Neurological improvement in the nonchemotherapy group (N = 25) was observed in 52% of patients: 8% reached m …
Sporadic late-onset nemaline myopathy (SLONM) associated with monoclonal protein (MP) is a rare disease with an aggressive, an …
Myopalladin promotes muscle growth through modulation of the serum response factor pathway.
Filomena MC, Yamamoto DL, Caremani M, Kadarla VK, Mastrototaro G, Serio S, Vydyanath A, Mutarelli M, Garofalo A, Pertici I, Knöll R, Nigro V, Luther PK, Lieber RL, Beck MR, Linari M, Bang ML. Filomena MC, et al. J Cachexia Sarcopenia Muscle. 2020 Feb;11(1):169-194. doi: 10.1002/jcsm.12486. Epub 2019 Oct 24. J Cachexia Sarcopenia Muscle. 2020. PMID: 31647200 Free PMC article.
Heterozygous MYPN gene mutations are associated with hypertrophic, dilated, and restrictive cardiomyopathy, and homozygous loss-of-function truncating mutations have recently been identified in patients with cap myopathy, nemaline myopathy, and congenital …
Heterozygous MYPN gene mutations are associated with hypertrophic, dilated, and restrictive cardiomyopathy, and homozygous loss-of-function …
Sporadic late-onset nemaline myopathy: Clinical spectrum, survival, and treatment outcomes.
Naddaf E, Milone M, Kansagra A, Buadi F, Kourelis T. Naddaf E, et al. Neurology. 2019 Jul 16;93(3):e298-e305. doi: 10.1212/WNL.0000000000007777. Epub 2019 Jun 5. Neurology. 2019. PMID: 31167932
OBJECTIVE: To describe the clinical phenotype, long-term treatment outcome, and overall survival of sporadic late-onset nemaline myopathy (SLONM) with or without a monoclonal protein (MP). ...A total of 7/9 (78%) patients receiving IV immunoglobulin (IVIg), 6 …
OBJECTIVE: To describe the clinical phenotype, long-term treatment outcome, and overall survival of sporadic late-onset nemaline
L-tyrosine supplementation does not ameliorate skeletal muscle dysfunction in zebrafish and mouse models of dominant skeletal muscle alpha-actin nemaline myopathy.
Messineo AM, Gineste C, Sztal TE, McNamara EL, Vilmen C, Ogier AC, Hahne D, Bendahan D, Laing NG, Bryson-Richardson RJ, Gondin J, Nowak KJ. Messineo AM, et al. Sci Rep. 2018 Jul 31;8(1):11490. doi: 10.1038/s41598-018-29437-z. Sci Rep. 2018. PMID: 30065346 Free PMC article.
L-tyrosine supplementation may provide benefit to nemaline myopathy (NM) patients, however previous studies are inconclusive, with no elevation of L-tyrosine levels in blood or tissue reported. ...Therefore this study yields important information on aspects of the …
L-tyrosine supplementation may provide benefit to nemaline myopathy (NM) patients, however previous studies are inconclusive, …
Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction.
Jungbluth H, Treves S, Zorzato F, Sarkozy A, Ochala J, Sewry C, Phadke R, Gautel M, Muntoni F. Jungbluth H, et al. Nat Rev Neurol. 2018 Mar;14(3):151-167. doi: 10.1038/nrneurol.2017.191. Epub 2018 Feb 2. Nat Rev Neurol. 2018. PMID: 29391587 Review.
Central core disease (CCD), multi-minicore disease (MmD), centronuclear myopathy (CNM) and nemaline myopathy were among the first congenital myopathies to be reported, and they still represent the main diagnostic categories. ...Next-generation sequenci …
Central core disease (CCD), multi-minicore disease (MmD), centronuclear myopathy (CNM) and nemaline myopathy were among …
Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort.
Monforte M, Primiano G, Silvestri G, Mirabella M, Luigetti M, Cuccagna C, Ricci E, Servidei S, Tasca G. Monforte M, et al. J Neurol. 2018 Mar;265(3):542-551. doi: 10.1007/s00415-018-8741-y. Epub 2018 Jan 22. J Neurol. 2018. PMID: 29356967
Sporadic late-onset nemaline myopathy (SLONM) is a rare acquired myopathy characterized by rapid-onset proximal weakness in late adulthood, and the presence of nemaline bodies on muscle biopsy. ...Average time elapsed from the onset of symptoms to refe …
Sporadic late-onset nemaline myopathy (SLONM) is a rare acquired myopathy characterized by rapid-onset proximal weaknes …
Clinical, histological and radiological responses to methylprednisolone in HIV-associated rod myopathy.
Silva AMS, Mendonça RH, Moreno CAM, Estephan EP, Helito PVP, Carvalho MS, Zanoteli E. Silva AMS, et al. Neuromuscul Disord. 2017 Aug;27(8):756-759. doi: 10.1016/j.nmd.2017.05.008. Epub 2017 May 12. Neuromuscul Disord. 2017. PMID: 28606402
The patient underwent six cycles of intravenous methylprednisolone pulses, presenting clinical improvement. Post-treatment muscle biopsy showed fewer nemaline bodies and muscle magnetic resonance image depicted a pronounced reduction of muscular edema. These finding …
The patient underwent six cycles of intravenous methylprednisolone pulses, presenting clinical improvement. Post-treatment muscle bio …
Current and future therapeutic approaches to the congenital myopathies.
Jungbluth H, Ochala J, Treves S, Gautel M. Jungbluth H, et al. Semin Cell Dev Biol. 2017 Apr;64:191-200. doi: 10.1016/j.semcdb.2016.08.004. Epub 2016 Aug 8. Semin Cell Dev Biol. 2017. PMID: 27515125 Review.
The congenital myopathies - including Central Core Disease (CCD), Multi-minicore Disease (MmD), Centronuclear Myopathy (CNM), Nemaline Myopathy (NM) and Congenital Fibre Type Disproportion (CFTD) - are a genetically heterogeneous group of early-onset n …
The congenital myopathies - including Central Core Disease (CCD), Multi-minicore Disease (MmD), Centronuclear Myopathy (CNM), …
Sporadic late-onset nemaline myopathy with MGUS: long-term follow-up after melphalan and SCT.
Voermans NC, Benveniste O, Minnema MC, Lokhorst H, Lammens M, Meersseman W, Delforge M, Kuntzer T, Novy J, Pabst T, Bouhour F, Romero N, Leblond V, Bergh Pv, Vekemans MC, van Engelen BG, Eymard B. Voermans NC, et al. Neurology. 2014 Dec 2;83(23):2133-9. doi: 10.1212/WNL.0000000000001047. Epub 2014 Nov 5. Neurology. 2014. PMID: 25378674 Free article.
OBJECTIVE: Sporadic late-onset nemaline myopathy (SLONM) is a rare, late-onset myopathy that progresses subacutely. ...This study aims to qualitatively assess the long-term treatment effect of high-dose melphalan (HDM) followed by autologous stem cell transpl …
OBJECTIVE: Sporadic late-onset nemaline myopathy (SLONM) is a rare, late-onset myopathy that progresses subacutely. ... …
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