D'Arrigo S - Search Results

1

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.

Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P; International JSRD Study Group; Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM. Iannicelli M, et al. Hum Mutat. 2010 May;31(5):E1319-31. doi: 10.1002/humu.21239. Hum Mutat. 2010. PMID: 20232449 Free PMC article.

2

A case of 3-methylglutaconic aciduria misdiagnosed as cerebral palsy.

Pantaleoni C, D'Arrigo S, D'Incerti L, Rimoldi M, Riva D. Pantaleoni C, et al. Pediatr Neurol. 2000 Nov;23(5):442-4. doi: 10.1016/s0887-8994(00)00217-4. Pediatr Neurol. 2000. PMID: 11118804

3

Aicardi-Goutières syndrome: a description of 21 new cases and a comparison with the literature.

Lanzi G, Fazzi E, D'Arrigo S. Lanzi G, et al. Eur J Paediatr Neurol. 2002;6 Suppl A:A9-22; discussion A23-5, A77-86. doi: 10.1053/ejpn.2002.0568. Eur J Paediatr Neurol. 2002. PMID: 12365365

4

Oligoyric microcephaly in a child with Williams syndrome.

Faravelli F, D'Arrigo S, Bagnasco I, Selicorni A, D'Incerti L, Riva D, Pantaleoni C. Faravelli F, et al. Am J Med Genet A. 2003 Mar 1;117A(2):169-71. doi: 10.1002/ajmg.a.10892. Am J Med Genet A. 2003. PMID: 12567416

5

Aicardi-Goutières syndrome: differential diagnosis and aetiopathogenesis.

Lanzi G, D'Arrigo S, Drumbl G, Uggetti C, Fazzi E. Lanzi G, et al. Funct Neurol. 2003 Apr-Jun;18(2):71-5. Funct Neurol. 2003. PMID: 12911136 Review.

6

Unusual neurophysiological features in Cockayne's syndrome: a report of two cases as a contribution to diagnosis and classification.

Scaioli V, D'Arrigo S, Pantaleoni C. Scaioli V, et al. Brain Dev. 2004 Jun;26(4):273-80. doi: 10.1016/S0387-7604(03)00130-X. Brain Dev. 2004. PMID: 15130695

7

Another patient with MECP2 mutation without classic Rett syndrome phenotype.

Milani D, Pantaleoni C, D'Arrigo S, Selicorni A, Riva D. Milani D, et al. Pediatr Neurol. 2005 May;32(5):355-7. doi: 10.1016/j.pediatrneurol.2004.12.012. Pediatr Neurol. 2005. PMID: 15866439

8

The natural history of Aicardi-Goutières syndrome: follow-up of 11 Italian patients.

Lanzi G, Fazzi E, D'Arrigo S, Orcesi S, Maraucci I, Uggetti C, Bertini E, Lebon P. Lanzi G, et al. Neurology. 2005 May 10;64(9):1621-4. doi: 10.1212/01.WNL.0000159864.05826.08. Neurology. 2005. PMID: 15883328

9

Progressive encephalopathy with edema, hypsarrhythmia, and optic nerve atrophy (PEHO)-like syndrome: what diagnostic characteristics are defining?

D'Arrigo S, Grazia BM, Faravelli F, Riva D, Pantaleoni C. D'Arrigo S, et al. J Child Neurol. 2005 May;20(5):454-6. doi: 10.1177/08830738050200051801. J Child Neurol. 2005. PMID: 15968934

10

Diagnostic approach to cerebellar disease in children.

D'Arrigo S, Viganò L, Grazia Bruzzone M, Marzaroli M, Nikas I, Riva D, Pantaleoni C. D'Arrigo S, et al. J Child Neurol. 2005 Nov;20(11):859-66. doi: 10.1177/08830738050200110101. J Child Neurol. 2005. PMID: 16417854

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