175 related articles for article (PubMed ID: 36897110)
21. Cardiac dysrhythmias,cardiomyopathy and muscular dystrophy in patients with Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B.
Hong JS; Ki CS; Kim JW; Suh YL; Kim JS; Baek KK; Kim BJ; Ahn KJ; Kim DK
J Korean Med Sci; 2005 Apr; 20(2):283-90. PubMed ID: 15832002
[TBL] [Abstract][Full Text] [Related]
22. Assessment of parental mosaicism in
de Lange IM; Koudijs MJ; van 't Slot R; Sonsma ACM; Mulder F; Carbo EC; van Kempen MJA; Nijman IJ; Ernst RF; Savelberg SMC; Knoers NVAM; Brilstra EH; Koeleman BPC
J Med Genet; 2019 Feb; 56(2):75-80. PubMed ID: 30368457
[TBL] [Abstract][Full Text] [Related]
23. Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.
Madej-Pilarczyk A; Kochański A
Folia Neuropathol; 2016; 54(1):1-8. PubMed ID: 27179216
[TBL] [Abstract][Full Text] [Related]
24. A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report.
Li Y; Wang Y; Ming Y; Chaolan P; Jia Z; Cheng N; Qiaoyu C; Li M; Tianyi X
BMC Med Genomics; 2021 Nov; 14(1):259. PubMed ID: 34724947
[TBL] [Abstract][Full Text] [Related]
25. [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]
26. Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery-Dreifuss muscular dystrophy.
Walter MC; Witt TN; Weigel BS; Reilich P; Richard P; Pongratz D; Bonne G; Wehnert MS; Lochmüller H
Neuromuscul Disord; 2005 Jan; 15(1):40-4. PubMed ID: 15639119
[TBL] [Abstract][Full Text] [Related]
27. An Indian family with an Emery-Dreifuss myopathy and familial dilated cardiomyopathy due to a novel LMNA mutation.
Jadhav KB; Karpe KK; Maramattom BV
Ann Indian Acad Neurol; 2012 Oct; 15(4):344-6. PubMed ID: 23349612
[TBL] [Abstract][Full Text] [Related]
28. Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy.
Wiltshire KM; Hegele RA; Innes AM; Brownell AK
Neuromuscul Disord; 2013 Mar; 23(3):265-8. PubMed ID: 23313286
[TBL] [Abstract][Full Text] [Related]
29. Generation of two iPSC lines (FAMRCi006-A and FAMRCi006-B) from patient with dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy associated with genetic variant LMNAp.Arg527Pro.
Perepelina K; Klauzen P; Khudiakov A; Zlotina A; Fomicheva Y; Rudenko D; Gordeev M; Sergushichev A; Malashicheva A; Kostareva A
Stem Cell Res; 2020 Mar; 43():101714. PubMed ID: 32059175
[TBL] [Abstract][Full Text] [Related]
30. Emery-Dreifuss dystrophy: a 4-year follow-up on a laminopathy of special interest.
Hausmanowa-Petrusewicz I; Madej-Pilarczyk A; Marchel M; Opolski G
Neurol Neurochir Pol; 2009; 43(5):415-20. PubMed ID: 20054742
[TBL] [Abstract][Full Text] [Related]
31. Detection of Very Low-Level Somatic Mosaic
Deng H; Zhang Y; Ding J; Wang F
Front Med (Lausanne); 2022; 9():847056. PubMed ID: 35360741
[TBL] [Abstract][Full Text] [Related]
32. Nuclear alterations in autosomal-dominant Emery-Dreifuss muscular dystrophy.
Sabatelli P; Lattanzi G; Ognibene A; Columbaro M; Capanni C; Merlini L; Maraldi NM; Squarzoni S
Muscle Nerve; 2001 Jun; 24(6):826-9. PubMed ID: 11360268
[TBL] [Abstract][Full Text] [Related]
33. Early onset of cardiomyopathy in two brothers with X-linked Emery-Dreifuss muscular dystrophy.
Talkop UA; Talvik I; Sõnajalg M; Sibul H; Kolk A; Piirsoo A; Warzok R; Wulff K; Wehnert MS; Talvik T
Neuromuscul Disord; 2002 Nov; 12(9):878-81. PubMed ID: 12398842
[TBL] [Abstract][Full Text] [Related]
34. Emery-Dreifuss muscular dystrophy: a novel mutation in the LMNA gene.
Lassuthová P; Baránková L; Kraus J; Maríková T; Seeman P
Pediatr Neurol; 2009 Aug; 41(2):127-30. PubMed ID: 19589462
[TBL] [Abstract][Full Text] [Related]
35. Clinical spectrum and genetic variations of
Fan Y; Tan D; Song D; Zhang X; Chang X; Wang Z; Zhang C; Chan SH; Wu Q; Wu L; Wang S; Yan H; Ge L; Yang H; Mao B; Bönnemann C; Liu J; Wang S; Yuan Y; Wu X; Zhang H; Xiong H
J Med Genet; 2021 May; 58(5):326-333. PubMed ID: 32571898
[TBL] [Abstract][Full Text] [Related]
36. Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing.
Jimenez-Escrig A; Gobernado I; Garcia-Villanueva M; Sanchez-Herranz A
Muscle Nerve; 2012 Apr; 45(4):605-10. PubMed ID: 22431096
[TBL] [Abstract][Full Text] [Related]
37. Theoretical basis for a new approach of studying Emery-Dreifuss muscular dystrophy by means of thermography.
Cabizosu A; Carboni N; Martinez-Almagro Andreo A; Vegara-Meseguer JM; Marziliano N; Gea Carrasco G; Casu G
Med Hypotheses; 2018 Sep; 118():103-106. PubMed ID: 30037594
[TBL] [Abstract][Full Text] [Related]
38. Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset.
Domogala DD; Gambin T; Zemet R; Wu CW; Schulze KV; Yang Y; Wilson TA; Machol I; Liu P; Stankiewicz P
Hum Genomics; 2021 Dec; 15(1):72. PubMed ID: 34930489
[TBL] [Abstract][Full Text] [Related]
39. Primary myocardial dysfunction in autosomal dominant EDMD. A tissue doppler and cardiovascular magnetic resonance study.
Smith GC; Kinali M; Prasad SK; Bonne G; Muntoni F; Pennell DJ; Nihoyannopoulos P
J Cardiovasc Magn Reson; 2006; 8(5):723-30. PubMed ID: 16891232
[TBL] [Abstract][Full Text] [Related]
40. Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy.
Muntoni F; Lichtarowicz-Krynska EJ; Sewry CA; Manilal S; Recan D; Llense S; Taylor J; Morris GE; Dubowitz V
Neuromuscul Disord; 1998 Apr; 8(2):72-6. PubMed ID: 9608559
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
