Rizza T - Search Results

1

Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration.

Muto V, Flex E, Kupchinsky Z, Primiano G, Galehdari H, Dehghani M, Cecchetti S, Carpentieri G, Rizza T, Mazaheri N, Sedaghat A, Vahidi Mehrjardi MY, Traversa A, Di Nottia M, Kousi MM, Jamshidi Y, Ciolfi A, Caputo V, Malamiri RA, Pantaleoni F, Martinelli S, Jeffries AR, Zeighami J, Sherafat A, Di Giuda D, Shariati GR, Carrozzo R, Katsanis N, Maroofian R, Servidei S, Tartaglia M. Muto V, et al. Among authors: rizza t. Neurology. 2018 Jul 24;91(4):e319-e330. doi: 10.1212/WNL.0000000000005869. Epub 2018 Jun 29. Neurology. 2018. PMID: 29959261 Free PMC article.

2

Mutation analysis in 16 patients with mtDNA depletion.

Carrozzo R, Bornstein B, Lucioli S, Campos Y, de la Pena P, Petit N, Dionisi-Vici C, Vilarinho L, Rizza T, Bertini E, Garesse R, Santorelli FM, Arenas J. Carrozzo R, et al. Among authors: rizza t. Hum Mutat. 2003 Apr;21(4):453-4. doi: 10.1002/humu.9135. Hum Mutat. 2003. PMID: 12655576

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: rizza t. Mol Cell Neurosci. 2003 Jun;23(2):219-31. doi: 10.1016/s1044-7431(03)00033-2. Mol Cell Neurosci. 2003. PMID: 12812755

4

A mitochondrial ATPase 6 mutation is associated with Leigh syndrome in a family and affects proton flow and adenosine triphosphate output when modeled in Escherichia coli.

Carrozzo R, Rizza T, Lucioli S, Pierini R, Bertini E, Santorelli FM. Carrozzo R, et al. Among authors: rizza t. Acta Paediatr Suppl. 2004 May;93(445):65-7. doi: 10.1111/j.1651-2227.2004.tb03060.x. Acta Paediatr Suppl. 2004. PMID: 15176724

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. Among authors: rizza t. 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

Infantile mitochondrial disorders.

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

7

Assaying ATP synthesis in cultured cells: a valuable tool for the diagnosis of patients with mitochondrial disorders.

Rizza T, Vazquez-Memije ME, Meschini MC, Bianchi M, Tozzi G, Nesti C, Piemonte F, Bertini E, Santorelli FM, Carrozzo R. Rizza T, et al. Biochem Biophys Res Commun. 2009 May 22;383(1):58-62. doi: 10.1016/j.bbrc.2009.03.121. Epub 2009 Mar 28. Biochem Biophys Res Commun. 2009. PMID: 19332025

8

Preliminary evidences on mitochondrial injury and impaired oxidative metabolism in breast cancer.

Putignani L, Raffa S, Pescosolido R, Rizza T, Del Chierico F, Leone L, Aimati L, Signore F, Carrozzo R, Callea F, Torrisi MR, Grammatico P. Putignani L, et al. Among authors: rizza t. Mitochondrion. 2012 May;12(3):363-9. doi: 10.1016/j.mito.2012.02.003. Epub 2012 Feb 18. Mitochondrion. 2012. PMID: 22366096

9

Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations.

Ciccolella M, Corti S, Catteruccia M, Petrini S, Tozzi G, Rizza T, Carrozzo R, Nizzardo M, Bordoni A, Ronchi D, D'Amico A, Rizzo C, Comi GP, Bertini E. Ciccolella M, et al. Among authors: rizza t. J Med Genet. 2013 Feb;50(2):104-7. doi: 10.1136/jmedgenet-2012-101204. Epub 2012 Dec 14. J Med Genet. 2013. PMID: 23243084

10

MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy.

Martinelli D, Travaglini L, Drouin CA, Ceballos-Picot I, Rizza T, Bertini E, Carrozzo R, Petrini S, de Lonlay P, El Hachem M, Hubert L, Montpetit A, Torre G, Dionisi-Vici C. Martinelli D, et al. Among authors: rizza t. Brain. 2013 Mar;136(Pt 3):872-81. doi: 10.1093/brain/awt012. Epub 2013 Feb 18. Brain. 2013. PMID: 23423674

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