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4. Congenital muscular dystrophy with dropped head linked to the LMNA gene in a Brazilian cohort. Pasqualin LM; Reed UC; Costa TV; Quedas E; Albuquerque MA; Resende MB; Rutkowski A; Chadi G; Zanoteli E Pediatr Neurol; 2014 Apr; 50(4):400-6. PubMed ID: 24508248 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene. Mercuri E; Brown SC; Nihoyannopoulos P; Poulton J; Kinali M; Richard P; Piercy RJ; Messina S; Sewry C; Burke MM; McKenna W; Bonne G; Muntoni F Muscle Nerve; 2005 May; 31(5):602-9. PubMed ID: 15770669 [TBL] [Abstract][Full Text] [Related]
7. Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant. Mercuri E; Poppe M; Quinlivan R; Messina S; Kinali M; Demay L; Bourke J; Richard P; Sewry C; Pike M; Bonne G; Muntoni F; Bushby K Arch Neurol; 2004 May; 61(5):690-4. PubMed ID: 15148145 [TBL] [Abstract][Full Text] [Related]
9. Novel LMNA mutation presenting as severe congenital muscular dystrophy. Prigogine C; Richard P; Van den Bergh P; Groswasser J; Deconinck N Pediatr Neurol; 2010 Oct; 43(4):283-6. PubMed ID: 20837309 [TBL] [Abstract][Full Text] [Related]
10. Congenital muscular dystrophy with dropped head phenotype and cognitive impairment due to a novel mutation in the LMNA gene. Bonati U; Bechtel N; Heinimann K; Rutz E; Schneider J; Frank S; Weber P; Fischer D Neuromuscul Disord; 2014 Jun; 24(6):529-32. PubMed ID: 24684859 [TBL] [Abstract][Full Text] [Related]
11. Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype. Charniot JC; Pascal C; Bouchier C; Sébillon P; Salama J; Duboscq-Bidot L; Peuchmaurd M; Desnos M; Artigou JY; Komajda M Hum Mutat; 2003 May; 21(5):473-81. PubMed ID: 12673789 [TBL] [Abstract][Full Text] [Related]
12. Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA. Karaoglu P; Quizon N; Pergande M; Wang H; Polat AI; Ersen A; Özer E; Willkomm L; Hiz Kurul S; Heredia R; Yis U; Selcen D; Çirak S Brain Dev; 2017 Apr; 39(4):361-364. PubMed ID: 27876398 [TBL] [Abstract][Full Text] [Related]
13. Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations. Carboni N; Mura M; Marrosu G; Cocco E; Marini S; Solla E; Mateddu A; Maioli MA; Piras R; Mallarini G; Mercuro G; Porcu M; Marrosu MG Muscle Nerve; 2010 Apr; 41(4):458-63. PubMed ID: 19882644 [TBL] [Abstract][Full Text] [Related]
14. [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]
15. R25G mutation in exon 1 of LMNA gene is associated with dilated cardiomyopathy and limb-girdle muscular dystrophy 1B. Yuan WL; Huang CY; Wang JF; Xie SL; Nie RQ; Liu YM; Liu PM; Zhou SX; Chen SQ; Huang WJ Chin Med J (Engl); 2009 Dec; 122(23):2840-5. PubMed ID: 20092787 [TBL] [Abstract][Full Text] [Related]
16. Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy. Tan D; Yang H; Yuan Y; Bonnemann C; Chang X; Wang S; Wu Y; Wu X; Xiong H PLoS One; 2015; 10(6):e0129699. PubMed ID: 26098624 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene. D'Amico A; Benedetti S; Petrini S; Sambuughin N; Boldrini R; Menditto I; Ferrari M; Verardo M; Goldfarb L; Bertini E Neuromuscul Disord; 2005 Dec; 15(12):847-50. PubMed ID: 16288872 [TBL] [Abstract][Full Text] [Related]
20. Floppy infant syndrome as a first manifestation of LMNA-related congenital muscular dystrophy. Jędrzejowska M; Potulska-Chromik A; Gos M; Gambin T; Dębek E; Rosiak E; Stępień A; Szymańczak R; Wojtaś B; Gielniewski B; Ciara E; Sobczyńska A; Chrzanowska K; Kostera-Pruszczyk A; Madej-Pilarczyk A Eur J Paediatr Neurol; 2021 May; 32():115-121. PubMed ID: 33940562 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]