557 related articles for article (PubMed ID: 21724397)
21. Core-rod myopathy caused by mutations in the nebulin gene.
Romero NB; Lehtokari VL; Quijano-Roy S; Monnier N; Claeys KG; Carlier RY; Pellegrini N; Orlikowski D; Barois A; Laing NG; Lunardi J; Fardeau M; Pelin K; Wallgren-Pettersson C
Neurology; 2009 Oct; 73(14):1159-61. PubMed ID: 19805734
[No Abstract] [Full Text] [Related]
22. NEB-related core-rod myopathy with distinct clinical and pathological features.
Park YE; Shin JH; Kang B; Lee CH; Kim DS
Muscle Nerve; 2016 Mar; 53(3):479-84. PubMed ID: 26562614
[TBL] [Abstract][Full Text] [Related]
23. Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2).
Tajsharghi H; Ohlsson M; Lindberg C; Oldfors A
Arch Neurol; 2007 Sep; 64(9):1334-8. PubMed ID: 17846275
[TBL] [Abstract][Full Text] [Related]
24. A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study.
Pénisson-Besnier I; Monnier N; Toutain A; Dubas F; Laing N
Neuromuscul Disord; 2007 Apr; 17(4):330-7. PubMed ID: 17376686
[TBL] [Abstract][Full Text] [Related]
25. A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions.
Gommans IM; Davis M; Saar K; Lammens M; Mastaglia F; Lamont P; van Duijnhoven G; ter Laak HJ; Reis A; Vogels OJ; Laing N; van Engelen BG; Kremer H
Brain; 2003 Jul; 126(Pt 7):1545-51. PubMed ID: 12805120
[TBL] [Abstract][Full Text] [Related]
26. Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations.
de Winter JM; Buck D; Hidalgo C; Jasper JR; Malik FI; Clarke NF; Stienen GJ; Lawlor MW; Beggs AH; Ottenheijm CA; Granzier H
J Med Genet; 2013 Jun; 50(6):383-92. PubMed ID: 23572184
[TBL] [Abstract][Full Text] [Related]
27. Refined localisation of the genes for nebulin and titin on chromosome 2q allows the assignment of nebulin as a candidate gene for autosomal recessive nemaline myopathy.
Pelin K; Ridanpää M; Donner K; Wilton S; Krishnarajah J; Laing N; Kolmerer B; Millevoi S; Labeit S; de la Chapelle A; Wallgren-Petterson C
Eur J Hum Genet; 1997; 5(4):229-34. PubMed ID: 9359044
[TBL] [Abstract][Full Text] [Related]
28. [Two cases of nemaline myopathy presenting with hypertrophy of distal limbs with prominent asymmetry].
Mizuno Y; Mori-Yoshimura M; Oya Y; Nishikawa A; Nishino I; Takahashi Y
Rinsho Shinkeigaku; 2017 Nov; 57(11):691-697. PubMed ID: 29070751
[TBL] [Abstract][Full Text] [Related]
29. [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]
30. Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy.
Sztal TE; McKaige EA; Williams C; Oorschot V; Ramm G; Bryson-Richardson RJ
Acta Neuropathol Commun; 2018 May; 6(1):40. PubMed ID: 29848386
[TBL] [Abstract][Full Text] [Related]
31. Neb: a zebrafish model of nemaline myopathy due to nebulin mutation.
Telfer WR; Nelson DD; Waugh T; Brooks SV; Dowling JJ
Dis Model Mech; 2012 May; 5(3):389-96. PubMed ID: 22159874
[TBL] [Abstract][Full Text] [Related]
32. Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb.
Laitila JM; McNamara EL; Wingate CD; Goullee H; Ross JA; Taylor RL; van der Pijl R; Griffiths LM; Harries R; Ravenscroft G; Clayton JS; Sewry C; Lawlor MW; Ottenheijm CAC; Bakker AJ; Ochala J; Laing NG; Wallgren-Pettersson C; Pelin K; Nowak KJ
Acta Neuropathol Commun; 2020 Feb; 8(1):18. PubMed ID: 32066503
[TBL] [Abstract][Full Text] [Related]
33. Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene.
Malfatti E; Schaeffer U; Chapon F; Yang Y; Eymard B; Xu R; Laporte J; Romero NB
Neuromuscul Disord; 2013 Dec; 23(12):992-7. PubMed ID: 24095155
[TBL] [Abstract][Full Text] [Related]
34. Congenital nemaline myopathy due to ACTA1-gene mutation and carnitine insufficiency: a case report.
Buxmann H; Schlösser R; Schlote W; Sewell A; Nowak KJ; Laing NG; Loewenich V
Neuropediatrics; 2001 Oct; 32(5):267-70. PubMed ID: 11748499
[TBL] [Abstract][Full Text] [Related]
35. Deleting exon 55 from the nebulin gene induces severe muscle weakness in a mouse model for nemaline myopathy.
Ottenheijm CA; Buck D; de Winter JM; Ferrara C; Piroddi N; Tesi C; Jasper JR; Malik FI; Meng H; Stienen GJ; Beggs AH; Labeit S; Poggesi C; Lawlor MW; Granzier H
Brain; 2013 Jun; 136(Pt 6):1718-31. PubMed ID: 23715096
[TBL] [Abstract][Full Text] [Related]
36. Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8).
Seferian AM; Malfatti E; Bosson C; Pelletier L; Taytard J; Forin V; Gidaro T; Gargaun E; Carlier P; Fauré J; Romero NB; Rendu J; Servais L
Neuromuscul Disord; 2016 Oct; 26(10):712-716. PubMed ID: 27528495
[TBL] [Abstract][Full Text] [Related]
37. A childhood-onset nemaline myopathy caused by novel heterozygote variants in the nebulin gene with literature review.
Wen Q; Chang X; Guo J
Acta Neurol Belg; 2020 Dec; 120(6):1351-1360. PubMed ID: 31696431
[TBL] [Abstract][Full Text] [Related]
38. Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy.
Nguyen MA; Joya JE; Kee AJ; Domazetovska A; Yang N; Hook JW; Lemckert FA; Kettle E; Valova VA; Robinson PJ; North KN; Gunning PW; Mitchell CA; Hardeman EC
Brain; 2011 Dec; 134(Pt 12):3516-29. PubMed ID: 22067542
[TBL] [Abstract][Full Text] [Related]
39. Autosomal dominant nemaline myopathy: a new phenotype unlinked to previously known genetic loci.
Jeannet PY; Mittaz L; Dunand M; Lobrinus JA; Bonafe L; Kuntzer T
Neuromuscul Disord; 2007 Jan; 17(1):6-12. PubMed ID: 17157023
[TBL] [Abstract][Full Text] [Related]
40. Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1).
Wallefeld W; Krause S; Nowak KJ; Dye D; Horváth R; Molnár Z; Szabó M; Hashimoto K; Reina C; De Carlos J; Rosell J; Cabello A; Navarro C; Nishino I; Lochmüller H; Laing NG
Neuromuscul Disord; 2006 Oct; 16(9-10):541-7. PubMed ID: 16945536
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
