Bresolin N - Search Results

1

Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease.

Zeviani M, Bresolin N, Gellera C, Bordoni A, Pannacci M, Amati P, Moggio M, Servidei S, Scarlato G, DiDonato S. Zeviani M, et al. Among authors: bresolin n. Am J Hum Genet. 1990 Dec;47(6):904-14. Am J Hum Genet. 1990. PMID: 1978558 Free PMC article.

2

Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF).

Zeviani M, Amati P, Bresolin N, Antozzi C, Piccolo G, Toscano A, DiDonato S. Zeviani M, et al. Among authors: bresolin n. Am J Hum Genet. 1991 Feb;48(2):203-11. Am J Hum Genet. 1991. PMID: 1899320 Free PMC article.

3

Evidence and age-related distribution of mtDNA D-loop point mutations in skeletal muscle from healthy subjects and mitochondrial patients.

Del Bo R, Bordoni A, Martinelli Boneschi F, Crimi M, Sciacco M, Bresolin N, Scarlato G, Comi GP. Del Bo R, et al. Among authors: bresolin n. J Neurol Sci. 2002 Oct 15;202(1-2):85-91. doi: 10.1016/s0022-510x(02)00247-2. J Neurol Sci. 2002. PMID: 12220698

4

The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency.

Di Fonzo A, Ronchi D, Lodi T, Fassone E, Tigano M, Lamperti C, Corti S, Bordoni A, Fortunato F, Nizzardo M, Napoli L, Donadoni C, Salani S, Saladino F, Moggio M, Bresolin N, Ferrero I, Comi GP. Di Fonzo A, et al. Among authors: bresolin n. Am J Hum Genet. 2009 May;84(5):594-604. doi: 10.1016/j.ajhg.2009.04.004. Epub 2009 Apr 30. Am J Hum Genet. 2009. PMID: 19409522 Free PMC article.

5

The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment.

Ronchi D, Sciacco M, Bordoni A, Raimondi M, Ripolone M, Fassone E, Di Fonzo A, Rizzuti M, Ciscato P, Cosi A, Servida M, Moggio M, Corti S, Bresolin N, Comi GP. Ronchi D, et al. Among authors: bresolin n. Eur J Hum Genet. 2012 Mar;20(3):357-60. doi: 10.1038/ejhg.2011.238. Epub 2011 Dec 21. Eur J Hum Genet. 2012. PMID: 22189266 Free PMC article.

6

Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability.

Ronchi D, Di Fonzo A, Lin W, Bordoni A, Liu C, Fassone E, Pagliarani S, Rizzuti M, Zheng L, Filosto M, Ferrò MT, Ranieri M, Magri F, Peverelli L, Li H, Yuan YC, Corti S, Sciacco M, Moggio M, Bresolin N, Shen B, Comi GP. Ronchi D, et al. Among authors: bresolin n. Am J Hum Genet. 2013 Feb 7;92(2):293-300. doi: 10.1016/j.ajhg.2012.12.014. Epub 2013 Jan 24. Am J Hum Genet. 2013. PMID: 23352259 Free PMC article.

7

[Mitochondrial encephalomyopathy].

Scarlato G, Bresolin N, Moggio M, Bet L, Meola G. Scarlato G, et al. Among authors: bresolin n. Recenti Prog Med. 1989 Dec;80(12):665-72. Recenti Prog Med. 1989. PMID: 2560839 Italian.

8

Multiple sclerosis and mitochondrial myopathy: an unusual combination of diseases.

Bet L, Moggio M, Comi GP, Mariani C, Prelle A, Checcarelli N, Bordoni A, Bresolin N, Scarpini E, Scarlato G. Bet L, et al. Among authors: bresolin n. J Neurol. 1994 Jul;241(8):511-6. doi: 10.1007/BF00919714. J Neurol. 1994. PMID: 7964921

9

Multiple deletions of mitochondrial DNA in sporadic and atypical cases of encephalomyopathy.

Checcarelli N, Prelle A, Moggio M, Comi G, Bresolin N, Papadimitriou A, Fagiolari G, Bordoni A, Scarlato G. Checcarelli N, et al. Among authors: bresolin n. J Neurol Sci. 1994 May;123(1-2):74-9. doi: 10.1016/0022-510x(94)90206-2. J Neurol Sci. 1994. PMID: 8064325

10

Multiple deletions of mitochondrial DNA in a patient with periodic attacks of paralysis.

Prelle A, Moggio M, Checcarelli N, Comi G, Bresolin N, Battistel A, Bordoni A, Scarlato G. Prelle A, et al. Among authors: bresolin n. J Neurol Sci. 1993 Jul;117(1-2):24-7. doi: 10.1016/0022-510x(93)90149-s. J Neurol Sci. 1993. PMID: 8410061

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