Balestri P - Search Results

1

A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family.

Baranello G, Saredi S, Sansanelli S, Savadori P, Canioni E, Chiapparini L, Balestri P, Malandrini A, Arnoldi MT, Pantaleoni C, Morandi L, Mora M. Baranello G, et al. Among authors: balestri p. Neuromuscul Disord. 2015 Jan;25(1):55-9. doi: 10.1016/j.nmd.2014.08.007. Epub 2014 Sep 10. Neuromuscul Disord. 2015. PMID: 25444434

2

Epilepsy, speech delay, and mental retardation in facioscapulohumeral muscular dystrophy.

Grosso S, Mostardini R, Di Bartolo RM, Balestri P, Verrotti A. Grosso S, et al. Among authors: balestri p. Eur J Paediatr Neurol. 2011 Sep;15(5):456-60. doi: 10.1016/j.ejpn.2011.04.003. Epub 2011 Jul 16. Eur J Paediatr Neurol. 2011. PMID: 21763164

3

Severe metabolic abnormalities in the white matter of patients with vacuolating megalencephalic leukoencephalopathy with subcortical cysts. A proton MR spectroscopic imaging study.

De Stefano N, Balestri P, Dotti MT, Grosso S, Mortilla M, Morgese G, Federico A. De Stefano N, et al. Among authors: balestri p. J Neurol. 2001 May;248(5):403-9. doi: 10.1007/s004150170182. J Neurol. 2001. PMID: 11437163

4

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.

Diodato D, Melchionda L, Haack TB, Dallabona C, Baruffini E, Donnini C, Granata T, Ragona F, Balestri P, Margollicci M, Lamantea E, Nasca A, Powell CA, Minczuk M, Strom TM, Meitinger T, Prokisch H, Lamperti C, Zeviani M, Ghezzi D. Diodato D, et al. Among authors: balestri p. Hum Mutat. 2014 Aug;35(8):983-9. doi: 10.1002/humu.22590. Epub 2014 Jun 24. Hum Mutat. 2014. PMID: 24827421 Free PMC article.

5

2q24-q31 deletion: report of a case and review of the literature.

Pescucci C, Caselli R, Grosso S, Mencarelli MA, Mari F, Farnetani MA, Piccini B, Artuso R, Bruttini M, Priolo M, Zuffardi O, Gimelli S, Balestri P, Renieri A. Pescucci C, et al. Among authors: balestri p. Eur J Med Genet. 2007 Jan-Feb;50(1):21-32. doi: 10.1016/j.ejmg.2006.09.001. Epub 2006 Sep 17. Eur J Med Genet. 2007. PMID: 17088112 Review.

6

Multiple neuroendocrine disorder in Salla disease.

Grosso S, Berardi R, Farnetani MA, Margollicci M, Mancini MG, Morgese G, Balestri P. Grosso S, et al. Among authors: balestri p. J Child Neurol. 2001 Oct;16(10):775-7. doi: 10.1177/088307380101601015. J Child Neurol. 2001. PMID: 11669356

7

Facial hemangioma and malformation of the cortical development: a broadening of the PHACE spectrum or a new entity?

Grosso S, De Cosmo L, Bonifazi E, Galluzzi P, Farnetani MA, Loffredo P, Anichini C, Berardi R, Morgese G, Balestri P. Grosso S, et al. Among authors: balestri p. Am J Med Genet A. 2004 Jan 15;124A(2):192-5. doi: 10.1002/ajmg.a.20316. Am J Med Genet A. 2004. PMID: 14699619

8

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.

Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R, Scala E, Longo I, Grosso S, Pescucci C, Ariani F, Hayek G, Balestri P, Bergo A, Badaracco G, Zappella M, Broccoli V, Renieri A, Kilstrup-Nielsen C, Landsberger N. Mari F, et al. Among authors: balestri p. Hum Mol Genet. 2005 Jul 15;14(14):1935-46. doi: 10.1093/hmg/ddi198. Epub 2005 May 25. Hum Mol Genet. 2005. PMID: 15917271

9

Isoprostanes in dystrophinopathy: Evidence of increased oxidative stress.

Grosso S, Perrone S, Longini M, Bruno C, Minetti C, Gazzolo D, Balestri P, Buonocore G. Grosso S, et al. Among authors: balestri p. Brain Dev. 2008 Jun;30(6):391-5. doi: 10.1016/j.braindev.2007.11.005. Epub 2008 Jan 3. Brain Dev. 2008. PMID: 18180123

10

Epilepsy and electroencephalographic findings in pericentric inversion of chromosome 12.

Grosso S, Pucci L, Farnetani M, Di Bartolo RM, Galimberti D, Mostardini R, Anichini C, Balestri M, Morgese G, Balestri P. Grosso S, et al. Among authors: balestri p, balestri m. J Child Neurol. 2004 Aug;19(8):604-8. doi: 10.1177/088307380401900807. J Child Neurol. 2004. PMID: 15605470

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