Santorelli FM - Search Results

1

MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form.

Telese R, Pagliarani S, Lerario A, Ciscato P, Fagiolari G, Cassandrini D, Grimoldi N, Conte G, Cinnante C, Santorelli FM, Comi GP, Sciacco M, Peverelli L. Telese R, et al. Among authors: santorelli fm. Mol Genet Genomic Med. 2020 Sep;8(9):e1320. doi: 10.1002/mgg3.1320. Epub 2020 Jun 24. Mol Genet Genomic Med. 2020. PMID: 32578970 Free PMC article.

2

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

3

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

4

Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.

Cannelli N, Cassandrini D, Bertini E, Striano P, Fusco L, Gaggero R, Specchio N, Biancheri R, Vigevano F, Bruno C, Simonati A, Zara F, Santorelli FM. Cannelli N, et al. Among authors: santorelli fm. Neurogenetics. 2006 May;7(2):111-7. doi: 10.1007/s10048-005-0024-y. Epub 2006 Mar 29. Neurogenetics. 2006. PMID: 16570191

5

POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.

Biancheri R, Bertini E, Falace A, Pedemonte M, Rossi A, D'Amico A, Scapolan S, Bergamino L, Petrini S, Cassandrini D, Broda P, Manfredi M, Zara F, Santorelli FM, Minetti C, Bruno C. Biancheri R, et al. Among authors: santorelli fm. Arch Neurol. 2006 Oct;63(10):1491-5. doi: 10.1001/archneur.63.10.1491. Arch Neurol. 2006. PMID: 17030669

6

Lipoid proteinosis: case report and review of the literature.

Di Giandomenico S, Masi R, Cassandrini D, El-Hachem M, De Vito R, Bruno C, Santorelli FM. Di Giandomenico S, et al. Among authors: santorelli fm. Acta Otorhinolaryngol Ital. 2006 Jun;26(3):162-7. Acta Otorhinolaryngol Ital. 2006. PMID: 17063986 Free PMC article. Review.

7

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: santorelli fm. J Child Neurol. 2006 Nov;21(11):983-5. doi: 10.1177/08830738060210111001. J Child Neurol. 2006. PMID: 17092469

8

Peroxisomal acyl-CoA-oxidase deficiency: two new cases.

Carrozzo R, Bellini C, Lucioli S, Deodato F, Cassandrini D, Cassanello M, Caruso U, Rizzo C, Rizza T, Napolitano ML, Wanders RJ, Jakobs C, Bruno C, Santorelli FM, Dionisi-Vici C, Bonioli E. Carrozzo R, et al. Among authors: santorelli fm. Am J Med Genet A. 2008 Jul 1;146A(13):1676-81. doi: 10.1002/ajmg.a.32298. Am J Med Genet A. 2008. PMID: 18536048

9

White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1.

Biancheri R, Ciccolella M, Rossi A, Tessa A, Cassandrini D, Minetti C, Santorelli FM. Biancheri R, et al. Among authors: santorelli fm. Neuromuscul Disord. 2009 Jan;19(1):62-5. doi: 10.1016/j.nmd.2008.10.009. Neuromuscul Disord. 2009. PMID: 19187859

10

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.

Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi GP, D'Amico A, Aiello C, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Laverda A, Moggio M, Morandi L, Moroni I, Pane M, Pezzani R, Pichiecchio A, Pini A, Minetti C, Mongini T, Mottarelli E, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Vasco G, Santorelli FM, Bertini E. Mercuri E, et al. Among authors: santorelli fm. Neurology. 2009 May 26;72(21):1802-9. doi: 10.1212/01.wnl.0000346518.68110.60. Epub 2009 Mar 18. Neurology. 2009. PMID: 19299310

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