Angelini C - Search Results

1

Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy.

Weterman MA, Barth PG, van Spaendonck-Zwarts KY, Aronica E, Poll-The BT, Brouwer OF, van Tintelen JP, Qahar Z, Bradley EJ, de Wissel M, Salviati L, Angelini C, van den Heuvel L, Thomasse YE, Backx AP, Nürnberg G, Nürnberg P, Baas F. Weterman MA, et al. Among authors: angelini c. Brain. 2013 Jan;136(Pt 1):282-93. doi: 10.1093/brain/aws293. Brain. 2013. PMID: 23365102

2

Acute quadriplegic myopathy in a 17-month-old boy.

Salviati L, Laverda AM, Zancan L, Fanin M, Angelini C, Meznaric-Petrusa M. Salviati L, et al. Among authors: angelini c. J Child Neurol. 2000 Jan;15(1):63-6. doi: 10.1177/088307380001500115. J Child Neurol. 2000. PMID: 10641615

3

Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.

Salviati L, Sacconi S, Murer L, Zacchello G, Franceschini L, Laverda AM, Basso G, Quinzii C, Angelini C, Hirano M, Naini AB, Navas P, DiMauro S, Montini G. Salviati L, et al. Among authors: angelini c. Neurology. 2005 Aug 23;65(4):606-8. doi: 10.1212/01.wnl.0000172859.55579.a7. Neurology. 2005. PMID: 16116126

4

Impaired copper and iron metabolism in blood cells and muscles of patients affected by copper deficiency myeloneuropathy.

Spinazzi M, Sghirlanzoni A, Salviati L, Angelini C. Spinazzi M, et al. Among authors: angelini c. Neuropathol Appl Neurobiol. 2014 Dec;40(7):888-98. doi: 10.1111/nan.12111. Neuropathol Appl Neurobiol. 2014. PMID: 24708542

5

Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells.

Spinazzi M, Casarin A, Pertegato V, Salviati L, Angelini C. Spinazzi M, et al. Among authors: angelini c. Nat Protoc. 2012 May 31;7(6):1235-46. doi: 10.1038/nprot.2012.058. Nat Protoc. 2012. PMID: 22653162

6

Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.

Desbats MA, Vetro A, Limongelli I, Lunardi G, Casarin A, Doimo M, Spinazzi M, Angelini C, Cenacchi G, Burlina A, Rodriguez Hernandez MA, Chiandetti L, Clementi M, Trevisson E, Navas P, Zuffardi O, Salviati L. Desbats MA, et al. Among authors: angelini c. Eur J Hum Genet. 2015 Sep;23(9):1254-8. doi: 10.1038/ejhg.2014.277. Epub 2015 Jan 7. Eur J Hum Genet. 2015. PMID: 25564041 Free PMC article.

7

Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders.

Spinazzi M, Casarin A, Pertegato V, Ermani M, Salviati L, Angelini C. Spinazzi M, et al. Among authors: angelini c. Mitochondrion. 2011 Nov;11(6):893-904. doi: 10.1016/j.mito.2011.07.006. Epub 2011 Aug 9. Mitochondrion. 2011. PMID: 21855655

8

Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect.

Koty PP, Pegoraro E, Hobson G, Marks HG, Turel A, Flagler D, Cadaldini M, Angelini C, Hoffman EP. Koty PP, et al. Among authors: angelini c. Neurology. 1996 Oct;47(4):963-8. doi: 10.1212/wnl.47.4.963. Neurology. 1996. PMID: 8857727

9

Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy.

Sacconi S, Trevisson E, Salviati L, Aymé S, Rigal O, Redondo AG, Mancuso M, Siciliano G, Tonin P, Angelini C, Auré K, Lombès A, Desnuelle C. Sacconi S, et al. Among authors: angelini c. Neuromuscul Disord. 2010 Jan;20(1):44-8. doi: 10.1016/j.nmd.2009.10.014. Epub 2009 Nov 27. Neuromuscul Disord. 2010. PMID: 19945282

10

Single muscle fibre analyses in 2 brothers with succinate dehydrogenase deficiency.

Reichmann H, Angelini C. Reichmann H, et al. Among authors: angelini c. Eur Neurol. 1994;34(2):95-8. doi: 10.1159/000117016. Eur Neurol. 1994. PMID: 8174601

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