Assereto S - Search Results

1

Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidism.

Cassandrini D, Savasta S, Bozzola M, Tessa A, Pedemonte M, Assereto S, Stringara S, Minetti C, Santorelli FM, Bruno C. Cassandrini D, et al. Among authors: assereto s. J Child Neurol. 2006 Nov;21(11):983-5. doi: 10.1177/08830738060210111001. J Child Neurol. 2006. PMID: 17092469

2

Mitochondrial myopathy and respiratory failure associated with a new mutation in the mitochondrial transfer ribonucleic acid glutamic acid gene.

Bruno C, Sacco O, Santorelli FM, Assereto S, Tonoli E, Bado M, Rossi GA, Minetti C. Bruno C, et al. Among authors: assereto s. J Child Neurol. 2003 Apr;18(4):300-3. doi: 10.1177/08830738030180040401. J Child Neurol. 2003. PMID: 12760436

3

Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).

Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffrè B, Donati MA, Introvini P, Alegria A, Assereto S, Morandi L, Mora M, Tonoli E, Mascelli S, Traverso M, Pasquini E, Bado M, Vilarinho L, van Noort G, Mosca F, DiMauro S, Zara F, Minetti C. Bruno C, et al. Among authors: assereto s. Neurology. 2004 Sep 28;63(6):1053-8. doi: 10.1212/01.wnl.0000138429.11433.0d. Neurology. 2004. PMID: 15452297

4

Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene.

Bruno C, Santorelli FM, Assereto S, Tonoli E, Tessa A, Traverso M, Scapolan S, Bado M, Tedeschi S, Minetti C. Bruno C, et al. Among authors: assereto s. Muscle Nerve. 2003 Oct;28(4):508-11. doi: 10.1002/mus.10429. Muscle Nerve. 2003. PMID: 14506725

5

Neuromuscular forms of glycogen branching enzyme deficiency.

Bruno C, Cassandrini D, Assereto S, Akman HO, Minetti C, Di Mauro S. Bruno C, et al. Among authors: assereto s. Acta Myol. 2007 Jul;26(1):75-8. Acta Myol. 2007. PMID: 17915577 Free PMC article.

6

Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.

Zara F, Biancheri R, Bruno C, Bordo L, Assereto S, Gazzerro E, Sotgia F, Wang XB, Gianotti S, Stringara S, Pedemonte M, Uziel G, Rossi A, Schenone A, Tortori-Donati P, van der Knaap MS, Lisanti MP, Minetti C. Zara F, et al. Among authors: assereto s. Nat Genet. 2006 Oct;38(10):1111-3. doi: 10.1038/ng1870. Epub 2006 Sep 3. Nat Genet. 2006. PMID: 16951682

7

Early onset cardiomyopathy associated with the mitochondrial tRNALeu((UUR)) 3271T>C MELAS mutation.

Brisca G, Fiorillo C, Nesti C, Trucco F, Derchi M, Andaloro A, Assereto S, Morcaldi G, Pedemonte M, Minetti C, Santorelli FM, Bruno C. Brisca G, et al. Among authors: assereto s. Biochem Biophys Res Commun. 2015 Mar 13;458(3):601-604. doi: 10.1016/j.bbrc.2015.01.157. Epub 2015 Feb 11. Biochem Biophys Res Commun. 2015. PMID: 25680467 Review.

8

Clinical and molecular consequences of exon 78 deletion in DMD gene.

Traverso M, Assereto S, Baratto S, Iacomino M, Pedemonte M, Diana MC, Ferretti M, Broda P, Minetti C, Gazzerro E, Madia F, Bruno C, Zara F, Fiorillo C. Traverso M, et al. Among authors: assereto s. J Hum Genet. 2018 Jun;63(6):761-764. doi: 10.1038/s10038-018-0439-6. Epub 2018 Mar 19. J Hum Genet. 2018. PMID: 29556034

9

Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I.

Assereto S, Robbiano A, Di Rocco M, Rossi A, Cassandrini D, Panicucci C, Brigati G, Biancheri R, Bruno C, Minetti C, Trucks H, Sander T, Zara F, Gazzerro E. Assereto S, et al. Clin Genet. 2014 Jul;86(1):99-101. doi: 10.1111/cge.12248. Epub 2013 Sep 11. Clin Genet. 2014. PMID: 24020637 No abstract available.

10

Chemokine receptor CCR7 is expressed in muscle fibers in juvenile dermatomyositis.

Minetti C, Gattorno M, Repetto S, Gregorio A, Pedemonte M, Assereto S, Zara F, Bruno C, Martini A. Minetti C, et al. Among authors: assereto s. Biochem Biophys Res Commun. 2005 Jul 29;333(2):540-3. doi: 10.1016/j.bbrc.2005.05.146. Biochem Biophys Res Commun. 2005. PMID: 15950936

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