404 related articles for article (PubMed ID: 23313286)
1. 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]
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. 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]
4. 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]
5. 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]
6. 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]
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. [The laminopathy saga].
Bonne G
Rev Neurol; 2003 Oct 16-31; 37(8):772-4. PubMed ID: 14593639
[TBL] [Abstract][Full Text] [Related]
9. [Clinical, genealogical and molecular genetic study of Emery-Dreifuss muscular dystrophy].
Rudenskaia GE; Tverskaia SM; Chukhrova AL; Zakliaz'minskaia EV; Kuropatkina IuV; Dadali EL; Perminov VS; Poliakov AV
Zh Nevrol Psikhiatr Im S S Korsakova; 2006; 106(10):58-65. PubMed ID: 17117676
[TBL] [Abstract][Full Text] [Related]
10. [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]
11. Expression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutation.
Reichart B; Klafke R; Dreger C; Krüger E; Motsch I; Ewald A; Schäfer J; Reichmann H; Müller CR; Dabauvalle MC
BMC Cell Biol; 2004 Mar; 5():12. PubMed ID: 15053843
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Expression of lamin A mutated in the carboxyl-terminal tail generates an aberrant nuclear phenotype similar to that observed in cells from patients with Dunnigan-type partial lipodystrophy and Emery-Dreifuss muscular dystrophy.
Favreau C; Dubosclard E; Ostlund C; Vigouroux C; Capeau J; Wehnert M; Higuet D; Worman HJ; Courvalin JC; Buendia B
Exp Cell Res; 2003 Jan; 282(1):14-23. PubMed ID: 12490190
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. 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]
18. Cardioembolic stroke prompting diagnosis of LMNA-associated Emery-Dreifuss muscular dystrophy.
Redondo-Vergé L; Yaou RB; Fernández-Recio M; Dinca L; Richard P; Bonne G
Muscle Nerve; 2011 Oct; 44(4):587-9. PubMed ID: 21922471
[TBL] [Abstract][Full Text] [Related]
19. Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.
Cao H; Hegele RA
Hum Mol Genet; 2000 Jan; 9(1):109-12. PubMed ID: 10587585
[TBL] [Abstract][Full Text] [Related]
20. Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?
Ben Yaou R; Toutain A; Arimura T; Demay L; Massart C; Peccate C; Muchir A; Llense S; Deburgrave N; Leturcq F; Litim KE; Rahmoun-Chiali N; Richard P; Babuty D; Récan-Budiartha D; Bonne G
Neurology; 2007 May; 68(22):1883-94. PubMed ID: 17536044
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
