Arbustini E - Search Results

1

A novel AbetaPP mutation exclusively associated with cerebral amyloid angiopathy.

Obici L, Demarchi A, de Rosa G, Bellotti V, Marciano S, Donadei S, Arbustini E, Palladini G, Diegoli M, Genovese E, Ferrari G, Coverlizza S, Merlini G. Obici L, et al. Among authors: arbustini e. Ann Neurol. 2005 Oct;58(4):639-44. doi: 10.1002/ana.20571. Ann Neurol. 2005. PMID: 16178030

2

Evolution of childhood central diabetes insipidus into panhypopituitarism with a large hypothalamic mass: is 'lymphocytic infundibuloneurohypophysitis' in children a different entity?

Maghnie M, Genovese E, Sommaruga MG, Aricò M, Locatelli D, Arbustini E, Pezzotta S, Severi F. Maghnie M, et al. Among authors: arbustini e. Eur J Endocrinol. 1998 Dec;139(6):635-40. doi: 10.1530/eje.0.1390635. Eur J Endocrinol. 1998. PMID: 9916870

3

Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease.

Arbustini E, Pilotto A, Repetto A, Grasso M, Negri A, Diegoli M, Campana C, Scelsi L, Baldini E, Gavazzi A, Tavazzi L. Arbustini E, et al. J Am Coll Cardiol. 2002 Mar 20;39(6):981-90. doi: 10.1016/s0735-1097(02)01724-2. J Am Coll Cardiol. 2002. PMID: 11897440 Free article.

4

[Fibril-forming proteins: the amyloidosis. New hopes for a disease that cardiologists must know].

Arbustini E, Gavazzi A, Merlini G. Arbustini E, et al. Ital Heart J Suppl. 2002 Jun;3(6):590-7. Ital Heart J Suppl. 2002. PMID: 12116807 Review. Italian.

5

Electron and immuno-electron microscopy of abdominal fat identifies and characterizes amyloid fibrils in suspected cardiac amyloidosis.

Arbustini E, Verga L, Concardi M, Palladini G, Obici L, Merlini G. Arbustini E, et al. Amyloid. 2002 Jun;9(2):108-14. Amyloid. 2002. PMID: 12440483

6

Liver biopsy discloses a new apolipoprotein A-I hereditary amyloidosis in several unrelated Italian families.

Obici L, Palladini G, Giorgetti S, Bellotti V, Gregorini G, Arbustini E, Verga L, Marciano S, Donadei S, Perfetti V, Calabresi L, Bergonzi C, Scolari F, Merlini G. Obici L, et al. Among authors: arbustini e. Gastroenterology. 2004 May;126(5):1416-22. doi: 10.1053/j.gastro.2004.03.003. Gastroenterology. 2004. PMID: 15131802

7

A novel mtDNA point mutation in tRNA(Val) is associated with hypertrophic cardiomyopathy and MELAS.

Menotti F, Brega A, Diegoli M, Grasso M, Modena MG, Arbustini E. Menotti F, et al. Among authors: arbustini e. Ital Heart J. 2004 Jun;5(6):460-5. Ital Heart J. 2004. PMID: 15320572

8

Gene symbol: CMD1A. Disease: Dilated cardiomyopathy associated with conduction system disease.

Arbustini EA, Pasotti M, Pilotto A, Repetto A, Grasso M, Diegoli M. Arbustini EA, et al. Hum Genet. 2005 Jul;117(2-3):295. Hum Genet. 2005. PMID: 16156018 No abstract available.

9

Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.

Disabella E, Grasso M, Marziliano N, Ansaldi S, Lucchelli C, Porcu E, Tagliani M, Pilotto A, Diegoli M, Lanzarini L, Malattia C, Pelliccia A, Ficcadenti A, Gabrielli O, Arbustini E. Disabella E, et al. Among authors: arbustini e. Eur J Hum Genet. 2006 Jan;14(1):34-8. doi: 10.1038/sj.ejhg.5201502. Eur J Hum Genet. 2006. PMID: 16251899

10

Obstructive intramural coronary amyloidosis: a distinct phenotype of cardiac amyloidosis that can cause acute heart failure.

Pasotti M, Agozzino M, Concardi M, Merlini G, Rapezzi C, Arbustini E. Pasotti M, et al. Among authors: arbustini e. Eur Heart J. 2006 Aug;27(15):1810. doi: 10.1093/eurheartj/ehi745. Epub 2006 Feb 2. Eur Heart J. 2006. PMID: 16455672 No abstract available.

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