Sorrentino V - Search Results

1

Compound heterozygosity in the GALC gene in a late onset Iranian patient with spastic paraparesis, peripheral neuropathy and leukoencephalopathy.

Africa L, Margollicci M, Salvatore S, Shalbafan B, Peruzzi L, Togha M, Sorrentino V, Federico A. Africa L, et al. Among authors: sorrentino v. Neurol Sci. 2017 Sep;38(9):1721-1722. doi: 10.1007/s10072-017-2986-6. Epub 2017 May 25. Neurol Sci. 2017. PMID: 28547031 No abstract available.

2

Muscle biopsy and in vitro contracture test in subjects with idiopathic HyperCKemia.

Malandrini A, Orrico A, Gaudiano C, Gambelli S, Galli L, Berti G, Tegazzin V, Dotti MT, Federico A, Sorrentino V. Malandrini A, et al. Among authors: sorrentino v. Anesthesiology. 2008 Oct;109(4):625-8. doi: 10.1097/ALN.0b013e3181862a0d. Anesthesiology. 2008. PMID: 18813041 Free article.

3

A Rett syndrome MECP2 mutation that causes mental retardation in men.

Dotti MT, Orrico A, De Stefano N, Battisti C, Sicurelli F, Severi S, Lam CW, Galli L, Sorrentino V, Federico A. Dotti MT, et al. Among authors: sorrentino v. Neurology. 2002 Jan 22;58(2):226-30. doi: 10.1212/wnl.58.2.226. Neurology. 2002. PMID: 11805248

4

MECP2 mutation in male patients with non-specific X-linked mental retardation.

Orrico A, Lam C, Galli L, Dotti MT, Hayek G, Tong SF, Poon PM, Zappella M, Federico A, Sorrentino V. Orrico A, et al. Among authors: sorrentino v. FEBS Lett. 2000 Sep 22;481(3):285-8. doi: 10.1016/s0014-5793(00)01994-3. FEBS Lett. 2000. PMID: 11007980 Free article.

5

Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1.

Gambelli S, Malandrini A, Berti G, Gaudiano C, Zicari E, Brunori P, Perticoni G, Orrico A, Galli L, Sorrentino V, Lunardi J, Federico A, Dotti MT. Gambelli S, et al. Among authors: sorrentino v. Clin Genet. 2007 Jan;71(1):93-4. doi: 10.1111/j.1399-0004.2006.00725.x. Clin Genet. 2007. PMID: 17204054 No abstract available.

6

A truncation in the RYR1 gene associated with central core lesions in skeletal muscle fibres.

Rossi D, De Smet P, Lyfenko A, Galli L, Lorenzini S, Franci D, Petrioli F, Orrico A, Angelini C, Tegazzin V, Dirksen R, Sorrentino V. Rossi D, et al. Among authors: sorrentino v. J Med Genet. 2007 Feb;44(2):e67. doi: 10.1136/jmg.2006.043794. J Med Genet. 2007. PMID: 17293538 Free PMC article.

7

Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.

Galli L, Orrico A, Lorenzini S, Censini S, Falciani M, Covacci A, Tegazzin V, Sorrentino V. Galli L, et al. Among authors: sorrentino v. Hum Mutat. 2006 Aug;27(8):830. doi: 10.1002/humu.9442. Hum Mutat. 2006. PMID: 16835904

8

Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region.

Galli L, Orrico A, Cozzolino S, Pietrini V, Tegazzin V, Sorrentino V. Galli L, et al. Among authors: sorrentino v. Cell Calcium. 2002 Sep;32(3):143-51. doi: 10.1016/s0143-4160(02)00138-0. Cell Calcium. 2002. PMID: 12208234

9

Ryanodine receptor 1 (RYR1) mutations in two patients with tubular aggregate myopathy.

Vattemi GNA, Rossi D, Galli L, Catallo MR, Pancheri E, Marchetto G, Cisterna B, Malatesta M, Pierantozzi E, Tonin P, Sorrentino V. Vattemi GNA, et al. Among authors: sorrentino v. Eur J Neurosci. 2022 Aug;56(3):4214-4223. doi: 10.1111/ejn.15728. Epub 2022 Jun 13. Eur J Neurosci. 2022. PMID: 35666680 Free PMC article.

10

Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q).

Orrico A, Galli L, Buoni S, Hayek G, Luchetti A, Lorenzini S, Zappella M, Pomponi MG, Sorrentino V. Orrico A, et al. Among authors: sorrentino v. Am J Med Genet A. 2005 May 15;135(1):99-102. doi: 10.1002/ajmg.a.30700. Am J Med Genet A. 2005. PMID: 15809997

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