Santorelli FM - Search Results

1

Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1-Related Myopathies.

Dosi C, Rubegni A, Baldacci J, Galatolo D, Doccini S, Astrea G, Berardinelli A, Bruno C, Bruno G, Comi GP, Donati MA, Dotti MT, Filosto M, Fiorillo C, Giannini F, Gigli GL, Grandis M, Lopergolo D, Magri F, Maioli MA, Malandrini A, Massa R, Matà S, Melani F, Messina S, Mignarri A, Moggio M, Pennisi EM, Pegoraro E, Ricci G, Sacchini M, Schenone A, Sampaolo S, Sciacco M, Siciliano G, Tasca G, Tonin P, Tupler R, Valente M, Volpi N, Cassandrini D, Santorelli FM. Dosi C, et al. Among authors: santorelli fm. Genes (Basel). 2023 Jan 23;14(2):298. doi: 10.3390/genes14020298. Genes (Basel). 2023. PMID: 36833224 Free PMC article.

2

Detection of beta-A4 amyloid and its precursor protein in the muscle of a patient with juvenile neuronal ceroid lipofuscinosis (Spielmeyer-Vogt-Sjögren).

Villanova M, Ceuterick C, Dotti MT, Santorelli FM, Casali C, Malandrini A, De Stefano N, Lübke U, Martin JJ, Guazzi GC, Federico A. Villanova M, et al. Among authors: santorelli fm. Acta Neuropathol. 1999 Jul;98(1):78-84. doi: 10.1007/s004010051053. Acta Neuropathol. 1999. PMID: 10412803

3

Chronic diarrhea associated with the A3243G mtDNA mutation.

Santorelli FM, Villanova M, Malandrini A, Grieco GS, Palmeri S, Merlini L, Casali C. Santorelli FM, et al. Neurology. 2000 Jan 11;54(1):266-7. doi: 10.1212/wnl.54.1.266. Neurology. 2000. PMID: 10636171 No abstract available.

4

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

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

5

Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene.

Siciliano G, Tessa A, Petrini S, Mancuso M, Bruno C, Grieco GS, Malandrini A, DeFlorio L, Martini B, Federico A, Nappi G, Santorelli FM, Murri L. Siciliano G, et al. Among authors: santorelli fm. Neuromuscul Disord. 2003 Feb;13(2):162-5. doi: 10.1016/s0960-8966(02)00221-3. Neuromuscul Disord. 2003. PMID: 12565915

6

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: santorelli fm. J Child Neurol. 2003 Apr;18(4):300-3. doi: 10.1177/08830738030180040401. J Child Neurol. 2003. PMID: 12760436

7

Clinical and molecular findings in patients with giant axonal neuropathy (GAN).

Bruno C, Bertini E, Federico A, Tonoli E, Lispi ML, Cassandrini D, Pedemonte M, Santorelli FM, Filocamo M, Dotti MT, Schenone A, Malandrini A, Minetti C. Bruno C, et al. Among authors: santorelli fm. Neurology. 2004 Jan 13;62(1):13-6. doi: 10.1212/01.wnl.0000101676.41505.a7. Neurology. 2004. PMID: 14718689

8

Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.

Patrono C, Scarano V, Cricchi F, Melone MA, Chiriaco M, Napolitano A, Malandrini A, De Michele G, Petrozzi L, Giraldi C, Santoro L, Servidei S, Casali C, Filla A, Santorelli FM. Patrono C, et al. Among authors: santorelli fm. Hum Mutat. 2005 May;25(5):506. doi: 10.1002/humu.9340. Hum Mutat. 2005. PMID: 15841487

9

Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation.

Bertini E, Donati MA, Broda P, Cassandrini D, Petrini S, Dionisi-Vici C, Ballerini L, Boldrini R, D'Amico A, Pasquini E, Minetti C, Santorelli FM, Bruno C. Bertini E, et al. Among authors: santorelli fm. Neuropediatrics. 2005 Oct;36(5):309-13. doi: 10.1055/s-2005-872844. Neuropediatrics. 2005. PMID: 16217705

10

A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy.

Cassandrini D, Calevo MG, Tessa A, Manfredi G, Fattori F, Meschini MC, Carrozzo R, Tonoli E, Pedemonte M, Minetti C, Zara F, Santorelli FM, Bruno C. Cassandrini D, et al. Among authors: santorelli fm. Biochem Biophys Res Commun. 2006 Apr 7;342(2):387-93. doi: 10.1016/j.bbrc.2006.01.152. Epub 2006 Feb 8. Biochem Biophys Res Commun. 2006. PMID: 16483543

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