Carrozzo R - Search Results

1

Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders.

D'Amico A, Fattori F, Tasca G, Petrini S, Gualandi F, Bruselles A, D'Oria V, Verardo M, Carrozzo R, Niceta M, Udd B, Ferlini A, Tartaglia M, Bertini E. D'Amico A, et al. Among authors: carrozzo r. Eur J Paediatr Neurol. 2017 Nov;21(6):873-883. doi: 10.1016/j.ejpn.2017.07.009. Epub 2017 Jul 22. Eur J Paediatr Neurol. 2017. PMID: 28760337

2

Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia.

Patrono C, Casali C, Tessa A, Cricchi F, Fortini D, Carrozzo R, Siciliano G, Bertini E, Santorelli FM. Patrono C, et al. Among authors: carrozzo r. J Neurol. 2002 Feb;249(2):200-5. doi: 10.1007/pl00007865. J Neurol. 2002. PMID: 11985387

3

Human melanoma/NG2 chondroitin sulfate proteoglycan is expressed in the sarcolemma of postnatal human skeletal myofibers. Abnormal expression in merosin-negative and Duchenne muscular dystrophies.

Petrini S, Tessa A, Carrozzo R, Verardo M, Pierini R, Rizza T, Bertini E. Petrini S, et al. Among authors: carrozzo r. Mol Cell Neurosci. 2003 Jun;23(2):219-31. doi: 10.1016/s1044-7431(03)00033-2. Mol Cell Neurosci. 2003. PMID: 12812755

4

Actin glutathionylation increases in fibroblasts of patients with Friedreich's ataxia: a potential role in the pathogenesis of the disease.

Pastore A, Tozzi G, Gaeta LM, Bertini E, Serafini V, Di Cesare S, Bonetto V, Casoni F, Carrozzo R, Federici G, Piemonte F. Pastore A, et al. Among authors: carrozzo r. J Biol Chem. 2003 Oct 24;278(43):42588-95. doi: 10.1074/jbc.M301872200. Epub 2003 Aug 11. J Biol Chem. 2003. PMID: 12915401 Free article.

5

Altered expression of the MCSP/NG2 chondroitin sulfate proteoglycan in collagen VI deficiency.

Petrini S, Tessa A, Stallcup WB, Sabatelli P, Pescatori M, Giusti B, Carrozzo R, Verardo M, Bergamin N, Columbaro M, Bernardini C, Merlini L, Pepe G, Bonaldo P, Bertini E. Petrini S, et al. Among authors: carrozzo r. Mol Cell Neurosci. 2005 Nov;30(3):408-17. doi: 10.1016/j.mcn.2005.08.005. Mol Cell Neurosci. 2005. PMID: 16169245

6

Subcomplexes of human ATP synthase mark mitochondrial biosynthesis disorders.

Carrozzo R, Wittig I, Santorelli FM, Bertini E, Hofmann S, Brandt U, Schägger H. Carrozzo R, et al. Ann Neurol. 2006 Feb;59(2):265-75. doi: 10.1002/ana.20729. Ann Neurol. 2006. PMID: 16365880

7

A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy.

Cassandrini D, Calevo MG, Tessa A, Manfredi G, Fattori F, Meschini MC, Carrozzo R, Tonoli E, Pedemonte M, Minetti C, Zara F, Santorelli FM, Bruno C. Cassandrini D, et al. Among authors: carrozzo r. Biochem Biophys Res Commun. 2006 Apr 7;342(2):387-93. doi: 10.1016/j.bbrc.2006.01.152. Epub 2006 Feb 8. Biochem Biophys Res Commun. 2006. PMID: 16483543

8

Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria.

Di Rosa G, Deodato F, Loupatty FJ, Rizzo C, Carrozzo R, Santorelli FM, Boenzi S, D'Amico A, Tozzi G, Bertini E, Maiorana A, Wanders RJ, Dionisi-Vici C. Di Rosa G, et al. Among authors: carrozzo r. J Inherit Metab Dis. 2006 Aug;29(4):546-50. doi: 10.1007/s10545-006-0279-y. Epub 2006 May 30. J Inherit Metab Dis. 2006. PMID: 16736096

9

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.

Carrozzo R, Dionisi-Vici C, Steuerwald U, Lucioli S, Deodato F, Di Giandomenico S, Bertini E, Franke B, Kluijtmans LA, Meschini MC, Rizzo C, Piemonte F, Rodenburg R, Santer R, Santorelli FM, van Rooij A, Vermunt-de Koning D, Morava E, Wevers RA. Carrozzo R, et al. Brain. 2007 Mar;130(Pt 3):862-74. doi: 10.1093/brain/awl389. Epub 2007 Feb 14. Brain. 2007. PMID: 17301081

10

Infantile mitochondrial disorders.

Carrozzo R, Piemonte F, Tessa A, Lucioli S, Rizza T, Meschini MC, Fattori F, Santorelli FM. Carrozzo R, et al. Biosci Rep. 2007 Jun;27(1-3):105-12. doi: 10.1007/s10540-007-9039-y. Biosci Rep. 2007. PMID: 17486440 Review.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

213 results

Search Page