Carrozzo R - Search Results

1

Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review.

Galosi S, Barca E, Carrozzo R, Schirinzi T, Quinzii CM, Lieto M, Vasco G, Zanni G, Di Nottia M, Galatolo D, Filla A, Bertini E, Santorelli FM, Leuzzi V, Haas R, Hirano M, Friedman J. Galosi S, et al. Among authors: carrozzo r. Parkinsonism Relat Disord. 2019 Nov;68:8-16. doi: 10.1016/j.parkreldis.2019.09.015. Epub 2019 Sep 28. Parkinsonism Relat Disord. 2019. PMID: 31621627 Review.

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

Maternally-inherited Leigh syndrome-related mutations bolster mitochondrial-mediated apoptosis.

Carrozzo R, Rizza T, Stringaro A, Pierini R, Mormone E, Santorelli FM, Malorni W, Matarrese P. Carrozzo R, et al. J Neurochem. 2004 Jul;90(2):490-501. doi: 10.1111/j.1471-4159.2004.02505.x. J Neurochem. 2004. PMID: 15228605 Free article.

6

Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient.

Lucioli S, Hoffmeier K, Carrozzo R, Tessa A, Ludwig B, Santorelli FM. Lucioli S, et al. Among authors: carrozzo r. Neurogenetics. 2006 Mar;7(1):51-7. doi: 10.1007/s10048-005-0015-z. Epub 2005 Nov 12. Neurogenetics. 2006. PMID: 16284789

7

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

8

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

9

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

10

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

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