192 related articles for article (PubMed ID: 22431096)
1. 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]
2. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
Bonne G; Mercuri E; Muchir A; Urtizberea A; Bécane HM; Recan D; Merlini L; Wehnert M; Boor R; Reuner U; Vorgerd M; Wicklein EM; Eymard B; Duboc D; Penisson-Besnier I; Cuisset JM; Ferrer X; Desguerre I; Lacombe D; Bushby K; Pollitt C; Toniolo D; Fardeau M; Schwartz K; Muntoni F
Ann Neurol; 2000 Aug; 48(2):170-80. PubMed ID: 10939567
[TBL] [Abstract][Full Text] [Related]
3. A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy.
Kim HY; Ki CS; Kang SJ; Khang SK; Koh SH; Kim DW; Kim SH; Sung IH
Muscle Nerve; 2008 Oct; 38(4):1336-9. PubMed ID: 18816602
[TBL] [Abstract][Full Text] [Related]
4. Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.
Scharner J; Brown CA; Bower M; Iannaccone ST; Khatri IA; Escolar D; Gordon E; Felice K; Crowe CA; Grosmann C; Meriggioli MN; Asamoah A; Gordon O; Gnocchi VF; Ellis JA; Mendell JR; Zammit PS
Hum Mutat; 2011 Feb; 32(2):152-67. PubMed ID: 20848652
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B.
Park YE; Hayashi YK; Goto K; Komaki H; Hayashi Y; Inuzuka T; Noguchi S; Nonaka I; Nishino I
Neuromuscul Disord; 2009 Jan; 19(1):29-36. PubMed ID: 19070492
[TBL] [Abstract][Full Text] [Related]
8. Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report.
Iskandar K; Sunartini ; Astari FN; Gumilang RA; Ilma N; Shartyanie NP; Adistyawan G; Tan G; Gunadi ; Lai PS
BMC Pediatr; 2022 Oct; 22(1):601. PubMed ID: 36253810
[TBL] [Abstract][Full Text] [Related]
9. Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy.
Cenni V; Sabatelli P; Mattioli E; Marmiroli S; Capanni C; Ognibene A; Squarzoni S; Maraldi NM; Bonne G; Columbaro M; Merlini L; Lattanzi G
J Med Genet; 2005 Mar; 42(3):214-20. PubMed ID: 15744034
[TBL] [Abstract][Full Text] [Related]
10. Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy.
Menezes MP; Waddell LB; Evesson FJ; Cooper S; Webster R; Jones K; Mowat D; Kiernan MC; Johnston HM; Corbett A; Harbord M; North KN; Clarke NF
Neurology; 2012 Apr; 78(16):1258-63. PubMed ID: 22491857
[TBL] [Abstract][Full Text] [Related]
11. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.
Fatkin D; MacRae C; Sasaki T; Wolff MR; Porcu M; Frenneaux M; Atherton J; Vidaillet HJ; Spudich S; De Girolami U; Seidman JG; Seidman C; Muntoni F; Müehle G; Johnson W; McDonough B
N Engl J Med; 1999 Dec; 341(23):1715-24. PubMed ID: 10580070
[TBL] [Abstract][Full Text] [Related]
12. [The first Japanese case of autosomal dominant Emery-Dreifuss muscular dystrophy with a novel mutation in the lamin A/C gene].
Onishi Y; Higuchi J; Ogawa T; Namekawa A; Hayashi H; Odakura H; Goto K; Hayashi YK
Rinsho Shinkeigaku; 2002 Feb; 42(2):140-4. PubMed ID: 12424964
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration.
Bakay M; Wang Z; Melcon G; Schiltz L; Xuan J; Zhao P; Sartorelli V; Seo J; Pegoraro E; Angelini C; Shneiderman B; Escolar D; Chen YW; Winokur ST; Pachman LM; Fan C; Mandler R; Nevo Y; Gordon E; Zhu Y; Dong Y; Wang Y; Hoffman EP
Brain; 2006 Apr; 129(Pt 4):996-1013. PubMed ID: 16478798
[TBL] [Abstract][Full Text] [Related]
15. Cardiac effects of the c.1583 C→G LMNA mutation in two families with Emery-Dreifuss muscular dystrophy.
Zhang L; Shen H; Zhao Z; Bing Q; Hu J
Mol Med Rep; 2015 Oct; 12(4):5065-71. PubMed ID: 26165385
[TBL] [Abstract][Full Text] [Related]
16. [Hauptmann-Thannhauser muscular dystrophy and differential diagnosis of myopathies associated with contractures].
Hanisch F; Neudecker S; Wehnert M; Zierz S
Nervenarzt; 2002 Oct; 73(10):1004-11. PubMed ID: 12376891
[TBL] [Abstract][Full Text] [Related]
17. Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy.
Mercuri E; Counsell S; Allsop J; Jungbluth H; Kinali M; Bonne G; Schwartz K; Bydder G; Dubowitz V; Muntoni F
Neuropediatrics; 2002 Feb; 33(1):10-4. PubMed ID: 11930270
[TBL] [Abstract][Full Text] [Related]
18. A novel mutation in the central rod domain of lamin A/C producing a phenotype resembling the Emery-Dreifuss muscular dystrophy phenotype.
Maioli MA; Marrosu G; Mateddu A; Solla E; Carboni N; Tacconi P; Lai C; Marrosu MG
Muscle Nerve; 2007 Dec; 36(6):828-32. PubMed ID: 17701980
[TBL] [Abstract][Full Text] [Related]
19. [The laminopathy saga].
Bonne G
Rev Neurol; 2003 Oct 16-31; 37(8):772-4. PubMed ID: 14593639
[TBL] [Abstract][Full Text] [Related]
20. Genetic pattern of 3 cases of Emery-Dreifuss muscular dystrophy in a family.
Yazdanpanah P; Javan A; Nadimi B; Shirazi HR
East Mediterr Health J; 2007; 13(1):201-5. PubMed ID: 17546924
[No Abstract] [Full Text] [Related]
[Next] [New Search]
