Bertini ES - Search Results

1

SMA-miRs (miR-181a-5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples.

Abiusi E, Infante P, Cagnoli C, Lospinoso Severini L, Pane M, Coratti G, Pera MC, D'Amico A, Diano F, Novelli A, Spartano S, Fiori S, Baranello G, Moroni I, Mora M, Pasanisi MB, Pocino K, Le Pera L, D'Amico D, Travaglini L, Ria F, Bruno C, Locatelli D, Bertini ES, Morandi LO, Mercuri E, Di Marcotullio L, Tiziano FD. Abiusi E, et al. Among authors: bertini es. Elife. 2021 Sep 20;10:e68054. doi: 10.7554/eLife.68054. Elife. 2021. PMID: 34542403 Free PMC article.

2

Spinal muscular atrophies: recent insights and impact on molecular diagnosis.

Brahe C, Bertini E. Brahe C, et al. J Mol Med (Berl). 1996 Oct;74(10):555-62. doi: 10.1007/s001090050059. J Mol Med (Berl). 1996. PMID: 8912176 Review.

3

HyperCKemia as the only sign of McArdle's disease in a child.

Bruno C, Bertini E, Santorelli FM, DiMauro S. Bruno C, et al. J Child Neurol. 2000 Feb;15(2):137-8. doi: 10.1177/088307380001500216. J Child Neurol. 2000. PMID: 10695902

4

Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome.

Villanova M, Mercuri E, Bertini E, Sabatelli P, Morandi L, Mora M, Sewry C, Brockington M, Brown SC, Ferreiro A, Maraldi NM, Toda T, Guicheney P, Merlini L, Muntoni F. Villanova M, et al. Neuromuscul Disord. 2000 Dec;10(8):541-7. doi: 10.1016/s0960-8966(00)00139-5. Neuromuscul Disord. 2000. PMID: 11053679

5

Role of gabapentin in spinal muscular atrophy: results of a multicenter, randomized Italian study.

Merlini L, Solari A, Vita G, Bertini E, Minetti C, Mongini T, Mazzoni E, Angelini C, Morandi L. Merlini L, et al. J Child Neurol. 2003 Aug;18(8):537-41. doi: 10.1177/08830738030180080501. J Child Neurol. 2003. PMID: 13677579 Clinical Trial.

6

Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy.

Andreassi C, Angelozzi C, Tiziano FD, Vitali T, De Vincenzi E, Boninsegna A, Villanova M, Bertini E, Pini A, Neri G, Brahe C. Andreassi C, et al. Eur J Hum Genet. 2004 Jan;12(1):59-65. doi: 10.1038/sj.ejhg.5201102. Eur J Hum Genet. 2004. PMID: 14560316

7

Pilot trial of phenylbutyrate in spinal muscular atrophy.

Mercuri E, Bertini E, Messina S, Pelliccioni M, D'Amico A, Colitto F, Mirabella M, Tiziano FD, Vitali T, Angelozzi C, Kinali M, Main M, Brahe C. Mercuri E, et al. Neuromuscul Disord. 2004 Feb;14(2):130-5. doi: 10.1016/j.nmd.2003.11.006. Neuromuscul Disord. 2004. PMID: 14733959 Clinical Trial.

8

Motor function-muscle strength relationship in spinal muscular atrophy.

Merlini L, Bertini E, Minetti C, Mongini T, Morandi L, Angelini C, Vita G. Merlini L, et al. Muscle Nerve. 2004 Apr;29(4):548-52. doi: 10.1002/mus.20018. Muscle Nerve. 2004. PMID: 15052620

9

Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene.

D'Amico A, Tessa A, Sabino A, Bertini E, Santorelli FM, Servidei S. D'Amico A, et al. Neurology. 2004 Jun 8;62(11):2138-9. doi: 10.1212/01.wnl.0000127698.88895.85. Neurology. 2004. PMID: 15184642 No abstract available.

10

Severe abnormalities of the pons in two infants with goldenhar syndrome.

Pane M, Baranello G, Battaglia D, Donvito V, Carnevale F, Stefanini MC, Guzzetta F, Mercuri E, Bertini E. Pane M, et al. Neuropediatrics. 2004 Aug;35(4):234-8. doi: 10.1055/s-2004-820894. Neuropediatrics. 2004. PMID: 15328563

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