Carrozzo R - Search Results

1

Deficient muscle carnitine transport in primary carnitine deficiency.

Pons R, Carrozzo R, Tein I, Walker WF, Addonizio LJ, Rhead W, Miranda AF, Dimauro S, De Vivo DC. Pons R, et al. Among authors: carrozzo r. Pediatr Res. 1997 Nov;42(5):583-7. doi: 10.1203/00006450-199711000-00005. Pediatr Res. 1997. PMID: 9357927

2

Cellular and molecular studies in muscle and cultures from patients with multiple mitochondrial DNA deletions.

Carrozzo R, Davidson MM, Walker WF, Hirano M, Miranda AF. Carrozzo R, et al. J Neurol Sci. 1999 Nov 15;170(1):24-31. doi: 10.1016/s0022-510x(99)00193-8. J Neurol Sci. 1999. PMID: 10540032 Free article.

3

Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses.

Carrozzo R, Hirano M, Fromenty B, Casali C, Santorelli FM, Bonilla E, DiMauro S, Schon EA, Miranda AF. Carrozzo R, et al. Neurology. 1998 Jan;50(1):99-106. doi: 10.1212/wnl.50.1.99. Neurology. 1998. PMID: 9443465

4

Mitochondrial tRNA(Cys) gene mutation (A5814G): a second family with mitochondrial encephalopathy.

Santorelli FM, Siciliano G, Casali C, Basirico MG, Carrozzo R, Calvosa F, Sartucci F, Bonfiglio L, Murri L, DiMauro S. Santorelli FM, et al. Among authors: carrozzo r. Neuromuscul Disord. 1997 May;7(3):156-9. doi: 10.1016/s0960-8966(97)00444-6. Neuromuscul Disord. 1997. PMID: 9185178 Free article.

5

Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations.

Tuppen HA, Fattori F, Carrozzo R, Zeviani M, DiMauro S, Seneca S, Martindale JE, Olpin SE, Treacy EP, McFarland R, Santorelli FM, Taylor RW. Tuppen HA, et al. Among authors: carrozzo r. J Med Genet. 2008 Jan;45(1):55-61. doi: 10.1136/jmg.2007.051185. J Med Genet. 2008. PMID: 18178636

6

Correlation between clinical and molecular features in two MELAS families.

Martinuzzi A, Bartolomei L, Carrozzo R, Mostacciuolo M, Carbonin C, Toso V, Ciafaloni E, Shanske S, DiMauro S, Angelini C. Martinuzzi A, et al. Among authors: carrozzo r. J Neurol Sci. 1992 Dec;113(2):222-9. doi: 10.1016/0022-510x(92)90250-o. J Neurol Sci. 1992. PMID: 1487758

7

Muscle carnitine deficiency in patients with severe peripheral vascular disease.

Brevetti G, Angelini C, Rosa M, Carrozzo R, Perna S, Corsi M, Matarazzo A, Marcialis A. Brevetti G, et al. Among authors: carrozzo r. Circulation. 1991 Oct;84(4):1490-5. doi: 10.1161/01.cir.84.4.1490. Circulation. 1991. PMID: 1914091

8

High proportions of mtDNA duplications in patients with Kearns-Sayre syndrome occur in the heart.

Fromenty B, Carrozzo R, Shanske S, Schon EA. Fromenty B, et al. Among authors: carrozzo r. Am J Med Genet. 1997 Sep 5;71(4):443-52. doi: 10.1002/(sici)1096-8628(19970905)71:4<443::aid-ajmg14>3.0.co;2-g. Am J Med Genet. 1997. PMID: 9286453

9

Molecular heterogeneity of steroid sulfatase deficiency: a multicenter study on 57 unrelated patients, at DNA and protein levels.

Ballabio A, Carrozzo R, Parenti G, Gil A, Zollo M, Persico MG, Gillard E, Affara N, Yates J, Ferguson-Smith MA, et al. Ballabio A, et al. Among authors: carrozzo r. Genomics. 1989 Jan;4(1):36-40. doi: 10.1016/0888-7543(89)90311-x. Genomics. 1989. PMID: 2644167 Clinical Trial.

10

Changes in skeletal muscle histology and metabolism in patients undergoing exercise deconditioning: effect of propionyl-L-carnitine.

Brevetti G, Fanin M, De Amicis V, Carrozzo R, Di Lello F, Martone VD, Angelini C. Brevetti G, et al. Among authors: carrozzo r. Muscle Nerve. 1997 Sep;20(9):1115-20. doi: 10.1002/(sici)1097-4598(199709)20:9<1115::aid-mus4>3.0.co;2-b. Muscle Nerve. 1997. PMID: 9270666 Clinical Trial.

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