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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 …
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 pathome …
PURPOSE OF REVIEW: Sporadic late-onset nemaline myopathy (SLONM) is a rare adult-onset, acquired, muscle disease that can be a …
Pediatric Nemaline Myopathy: A Systematic Review Using Individual Patient Data.
Christophers B, Lopez MA, Gupta VA, Vogel H, Baylies M. Christophers B, et al. J Child Neurol. 2022 Jun;37(7):652-663. doi: 10.1177/08830738221096316. Epub 2022 Jun 7. J Child Neurol. 2022. PMID: 36960434 Free PMC article.
Nemaline myopathy is a skeletal muscle disease that affects 1 in 50 000 live births. The objective of this study was to develop a narrative synthesis of the findings of a systematic review of the latest case descriptions of patients with NM. A systematic search of M …
Nemaline myopathy is a skeletal muscle disease that affects 1 in 50 000 live births. The objective of this study was to develo …
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-lik …
Nemaline myopathies are a heterogenous group of congenital myopathies caused by de novo, dominantly or recessively inhe …
Filamin C-Associated Nemaline Myopathy.
Shammas I, Alhammad R, Naddaf E. Shammas I, et al. Neurology. 2024 May;102(10):e209477. doi: 10.1212/WNL.0000000000209477. Epub 2024 Apr 24. Neurology. 2024. PMID: 38657199 No abstract available.
Sarcomere Dysfunction in Nemaline Myopathy.
de Winter JM, Ottenheijm CAC. de Winter JM, et al. J Neuromuscul Dis. 2017;4(2):99-113. doi: 10.3233/JND-160200. J Neuromuscul Dis. 2017. PMID: 28436394 Free PMC article. Review.
Nemaline myopathy (NM) is among the most common non-dystrophic congenital myopathies (incidence 1:50.000). Hallmark features of NM are skeletal muscle weakness and the presence of nemaline bodies in the muscle fiber. The clinical phenotype of NM patien …
Nemaline myopathy (NM) is among the most common non-dystrophic congenital myopathies (incidence 1:50.000). Hallmark fea …
Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.
Gurgel-Giannetti J, Souza LS, Yamamoto GL, Belisario M, Lazar M, Campos W, Pavanello RCM, Zatz M, Reed U, Zanoteli E, Oliveira AB, Lehtokari VL, Casella EB, Machado-Costa MC, Wallgren-Pettersson C, Laing NG, Nigro V, Vainzof M. Gurgel-Giannetti J, et al. Int J Mol Sci. 2022 Oct 9;23(19):11995. doi: 10.3390/ijms231911995. Int J Mol Sci. 2022. PMID: 36233295 Free PMC article.
Nemaline myopathy (NM), a structural congenital myopathy, presents a significant clinical and genetic heterogeneity. ...
Nemaline myopathy (NM), a structural congenital myopathy, presents a significant clinical and genetic heterogeneity. .. …
Congenital Nemaline Myopathy with Dense Protein Masses.
Bevilacqua JA, Malfatti E, Labasse C, Brochier G, Madelaine A, Lacène E, Doray B, Laforêt P, Eymard B, Rendu J, Romero NB. Bevilacqua JA, et al. J Neuropathol Exp Neurol. 2022 Mar 29;81(4):304-307. doi: 10.1093/jnen/nlab139. J Neuropathol Exp Neurol. 2022. PMID: 35139532 No abstract available.
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 …
1,144 results

Searches related to "nemaline myopathy"