181 related articles for article (PubMed ID: 37562885)
21. Novel ACTA1 mutation causes late-presenting nemaline myopathy with unusual dark cores.
Garibaldi M; Fattori F; Pennisi EM; Merlonghi G; Fionda L; Vanoli F; Leonardi L; Bucci E; Morino S; Micaloni A; Tartaglione T; Uijterwijk B; Zierikzee M; Ottenheijm C; Bertini ES; Stoppacciaro A; Raffa S; Salvetti M; Antonini G
Neuromuscul Disord; 2021 Feb; 31(2):139-148. PubMed ID: 33384202
[TBL] [Abstract][Full Text] [Related]
22. [Nemaline myopathy as a cause of neonatal hypotonia - with emphasis on personal experiences. Report of a family with two brothers affected].
Bojdo A; Obersztyn E; Wallgren-Pettersson C; Lehtokari V; Laing N; Davis M; Kułakowska Z
Med Wieku Rozwoj; 2009; 13(1):5-10. PubMed ID: 19648653
[TBL] [Abstract][Full Text] [Related]
23. Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing.
Kondo E; Nishimura T; Kosho T; Inaba Y; Mitsuhashi S; Ishida T; Baba A; Koike K; Nishino I; Nonaka I; Furukawa T; Saito K
Am J Med Genet A; 2012 Apr; 158A(4):772-8. PubMed ID: 22407809
[TBL] [Abstract][Full Text] [Related]
24. Nemaline myopathies: a current view.
Sewry CA; Laitila JM; Wallgren-Pettersson C
J Muscle Res Cell Motil; 2019 Jun; 40(2):111-126. PubMed ID: 31228046
[TBL] [Abstract][Full Text] [Related]
25. 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;
Ital J Pediatr; 2017 Nov; 43(1):101. PubMed ID: 29141652
[TBL] [Abstract][Full Text] [Related]
26. A novel ACTA1 mutation causing progressive facioscapuloperoneal myopathy in an adult.
Kao JC; Liewluck T; Milone M
J Clin Neurosci; 2018 Jul; 53():261-262. PubMed ID: 29731279
[TBL] [Abstract][Full Text] [Related]
27. The genetics of congenital myopathies.
Gonorazky HD; Bönnemann CG; Dowling JJ
Handb Clin Neurol; 2018; 148():549-564. PubMed ID: 29478600
[TBL] [Abstract][Full Text] [Related]
28. Cytoplasmic body pathology in severe ACTA1-related myopathy in the absence of typical nemaline rods.
Donkervoort S; Chan SHS; Hayes LH; Bradley N; Nguyen D; Leach ME; Mohassel P; Hu Y; Thangarajh M; Bharucha-Goebel D; Kan A; Ho RSL; Reyes CA; Nance J; Moore SA; Foley AR; Bönnemann CG
Neuromuscul Disord; 2017 Jun; 27(6):531-536. PubMed ID: 28416349
[TBL] [Abstract][Full Text] [Related]
29. RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre.
Samões R; Oliveira J; Taipa R; Coelho T; Cardoso M; Gonçalves A; Santos R; Melo Pires M; Santos M
J Neuromuscul Dis; 2017; 4(1):67-76. PubMed ID: 28269792
[TBL] [Abstract][Full Text] [Related]
30. Pathological defects in congenital myopathies.
Sewry CA
J Muscle Res Cell Motil; 2008; 29(6-8):231-8. PubMed ID: 19115049
[TBL] [Abstract][Full Text] [Related]
31. Congenital myopathies and related disorders.
Taratuto AL
Curr Opin Neurol; 2002 Oct; 15(5):553-61. PubMed ID: 12351999
[TBL] [Abstract][Full Text] [Related]
32. Myopathology of Congenital Myopathies: Bridging the Old and the New.
Phadke R
Semin Pediatr Neurol; 2019 Apr; 29():55-70. PubMed ID: 31060726
[TBL] [Abstract][Full Text] [Related]
33. Arrhythmias in patients with X-linked myotubular myopathy.
Pons-Espinal M; Clotet-Caba J; Cesar-Díaz S; Yubero-Siles D
Rev Neurol; 2023 Aug; 77(3):79-81. PubMed ID: 37466134
[TBL] [Abstract][Full Text] [Related]
34. Clinical course correlates poorly with muscle pathology in nemaline myopathy.
Ryan MM; Ilkovski B; Strickland CD; Schnell C; Sanoudou D; Midgett C; Houston R; Muirhead D; Dennett X; Shield LK; De Girolami U; Iannaccone ST; Laing NG; North KN; Beggs AH
Neurology; 2003 Feb; 60(4):665-73. PubMed ID: 12601110
[TBL] [Abstract][Full Text] [Related]
35. Recent advances in nemaline myopathy.
Romero NB; Sandaradura SA; Clarke NF
Curr Opin Neurol; 2013 Oct; 26(5):519-26. PubMed ID: 23995272
[TBL] [Abstract][Full Text] [Related]
36. KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors.
Natera-de Benito D; Nascimento A; Abicht A; Ortez C; Jou C; Müller JS; Evangelista T; Töpf A; Thompson R; Jimenez-Mallebrera C; Colomer J; Lochmüller H
J Neurol; 2016 Mar; 263(3):517-23. PubMed ID: 26754003
[TBL] [Abstract][Full Text] [Related]
37. Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies.
Labasse C; Brochier G; Taratuto AL; Cadot B; Rendu J; Monges S; Biancalana V; Quijano-Roy S; Bui MT; Chanut A; Madelaine A; Lacène E; Beuvin M; Amthor H; Servais L; de Feraudy Y; Erro M; Saccoliti M; Neto OA; Fauré J; Lannes B; Laugel V; Coppens S; Lubieniecki F; Bello AB; Laing N; Evangelista T; Laporte J; Böhm J; Romero NB
Acta Neuropathol Commun; 2022 Jul; 10(1):101. PubMed ID: 35810298
[TBL] [Abstract][Full Text] [Related]
38. Clinical and Histologic Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the Literature.
Moreno CAM; Abath Neto O; Donkervoort S; Hu Y; Reed UC; Oliveira ASB; Bönnemann C; Zanoteli E
Pediatr Neurol; 2017 Oct; 75():11-16. PubMed ID: 28780987
[TBL] [Abstract][Full Text] [Related]
39. Novel autosomal dominant TPM3 mutation causes a combined congenital fibre type disproportion-cap disease histological pattern.
Bevilacqua JA; Contreras JP; Trangulao A; Hernández Ú; Brochier G; Díaz J; Hughes R; Campero M; Romero NB
Neuromuscul Disord; 2022 Aug; 32(8):687-691. PubMed ID: 35688744
[TBL] [Abstract][Full Text] [Related]
40.
Marttila M; Win W; Al-Ghamdi F; Abdel-Hamid HZ; Lacomis D; Beggs AH
Cold Spring Harb Mol Case Stud; 2019 Aug; 5(4):. PubMed ID: 31127036
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]