270 related articles for article (PubMed ID: 30203143)
21. Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.
Machnicki MM; Guglielmi V; Pancheri E; Gualandi F; Verriello L; Pruszczyk K; Kosinska J; Sangalli A; Rydzanicz M; Romanelli MG; Neri M; Ploski R; Tonin P; Tomelleri G; Stoklosa T; Vattemi G
Neurol Sci; 2021 Jul; 42(7):2819-2827. PubMed ID: 33170376
[TBL] [Abstract][Full Text] [Related]
22. Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.
Ghaoui R; Cooper ST; Lek M; Jones K; Corbett A; Reddel SW; Needham M; Liang C; Waddell LB; Nicholson G; O'Grady G; Kaur S; Ong R; Davis M; Sue CM; Laing NG; North KN; MacArthur DG; Clarke NF
JAMA Neurol; 2015 Dec; 72(12):1424-32. PubMed ID: 26436962
[TBL] [Abstract][Full Text] [Related]
23. The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
Reddy HM; Cho KA; Lek M; Estrella E; Valkanas E; Jones MD; Mitsuhashi S; Darras BT; Amato AA; Lidov HG; Brownstein CA; Margulies DM; Yu TW; Salih MA; Kunkel LM; MacArthur DG; Kang PB
J Hum Genet; 2017 Feb; 62(2):243-252. PubMed ID: 27708273
[TBL] [Abstract][Full Text] [Related]
24. Increasing Role of Titin Mutations in Neuromuscular Disorders.
Savarese M; Sarparanta J; Vihola A; Udd B; Hackman P
J Neuromuscul Dis; 2016 Aug; 3(3):293-308. PubMed ID: 27854229
[TBL] [Abstract][Full Text] [Related]
25. Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center.
Luo YB; Peng Y; Lu Y; Li Q; Duan H; Bi F; Yang H
Front Neurol; 2020; 11():1014. PubMed ID: 33041974
[No Abstract] [Full Text] [Related]
26. Myofibrillar myopathy caused by a novel FHL1 mutation presenting a mild myopathy with ankle contracture.
Park YE; Kim DS; Shin JH
Clin Neurol Neurosurg; 2019 May; 180():48-51. PubMed ID: 30928807
[TBL] [Abstract][Full Text] [Related]
27. Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches.
Batonnet-Pichon S; Behin A; Cabet E; Delort F; Vicart P; Lilienbaum A
J Neuromuscul Dis; 2017; 4(1):1-15. PubMed ID: 28269794
[TBL] [Abstract][Full Text] [Related]
28. [Myofibrillar myopathies].
Nakano S
Rinsho Shinkeigaku; 2012; 52(11):1151-3. PubMed ID: 23196546
[TBL] [Abstract][Full Text] [Related]
29. Mutations in myotilin cause myofibrillar myopathy.
Selcen D; Engel AG
Neurology; 2004 Apr; 62(8):1363-71. PubMed ID: 15111675
[TBL] [Abstract][Full Text] [Related]
30. [Application of targeted capture technology and next generation sequencing in molecular diagnosis of inherited myopathy].
Fu X; Liu A; Yang H; Wei C; Ding J; Wang S; Wang J; Yuan Y; Jiang Y; Xiong H
Zhonghua Er Ke Za Zhi; 2015 Oct; 53(10):741-6. PubMed ID: 26758109
[TBL] [Abstract][Full Text] [Related]
31. A case report: a heterozygous deletion (2791_2805 del) in exon 18 of the filamin C gene causing filamin C-related myofibrillar myopathies in a Chinese family.
Miao J; Su FF; Liu XM; Wei XJ; Yuan Y; Yu XF
BMC Neurol; 2018 Jun; 18(1):79. PubMed ID: 29866061
[TBL] [Abstract][Full Text] [Related]
32. Genotypic and phenotypic spectrum of Myofibrillar Myopathy 7 as a result of Kyphoscoliosis Peptidase deficiency: The first description of a missense mutation in KY and literature review.
Ehsani E; Khamirani HJ; Abbasi Z; Gohari M; Zoghi S; Mohammadi S; Dianatpour M; Tabei SMB; Mohamadjani O; Dastgheib SA
Eur J Med Genet; 2022 Aug; 65(8):104552. PubMed ID: 35752288
[TBL] [Abstract][Full Text] [Related]
33. Myofibrillar myopathies: new developments.
Olivé M; Kley RA; Goldfarb LG
Curr Opin Neurol; 2013 Oct; 26(5):527-35. PubMed ID: 23995273
[TBL] [Abstract][Full Text] [Related]
34. High diagnostic yield of targeted next-generation sequencing panel as a first-tier molecular test for the patients with myopathy or muscular dystrophy.
Çavdarlı B; Köken ÖY; Satılmış SBA; Bilen Ş; Ardıçlı D; Ceylan AC; Gündüz CNS; Topaloğlu H
Ann Hum Genet; 2023 May; 87(3):104-114. PubMed ID: 36575883
[TBL] [Abstract][Full Text] [Related]
35. A novel mutation in the PDZ-like motif of ZASP causes distal ZASP-related myofibrillar myopathy.
Zheng J; Chen S; Chen Y; Zhu M; Hong D
Neuropathology; 2017 Feb; 37(1):45-51. PubMed ID: 27546599
[TBL] [Abstract][Full Text] [Related]
36. In vivo characterization of human myofibrillar myopathy genes in zebrafish.
Bührdel JB; Hirth S; Kessler M; Westphal S; Forster M; Manta L; Wiche G; Schoser B; Schessl J; Schröder R; Clemen CS; Eichinger L; Fürst DO; van der Ven PF; Rottbauer W; Just S
Biochem Biophys Res Commun; 2015 May; 461(2):217-23. PubMed ID: 25866181
[TBL] [Abstract][Full Text] [Related]
37. Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.
Ghaoui R; Palmio J; Brewer J; Lek M; Needham M; Evilä A; Hackman P; Jonson PH; Penttilä S; Vihola A; Huovinen S; Lindfors M; Davis RL; Waddell L; Kaur S; Yiannikas C; North K; Clarke N; MacArthur DG; Sue CM; Udd B
Neurology; 2016 Jan; 86(4):391-8. PubMed ID: 26718575
[TBL] [Abstract][Full Text] [Related]
38. The Z-disk diseases.
Selcen D; Carpén O
Adv Exp Med Biol; 2008; 642():116-30. PubMed ID: 19181098
[TBL] [Abstract][Full Text] [Related]
39. In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.
Shatunov A; Olivé M; Odgerel Z; Stadelmann-Nessler C; Irlbacher K; van Landeghem F; Bayarsaikhan M; Lee HS; Goudeau B; Chinnery PF; Straub V; Hilton-Jones D; Damian MS; Kaminska A; Vicart P; Bushby K; Dalakas MC; Sambuughin N; Ferrer I; Goebel HH; Goldfarb LG
Eur J Hum Genet; 2009 May; 17(5):656-63. PubMed ID: 19050726
[TBL] [Abstract][Full Text] [Related]
40.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]