Bertini E - 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. Among authors: bertini e. Hum Mutat. 2010 May;31(5):E1319-31. doi: 10.1002/humu.21239. Hum Mutat. 2010. PMID: 20232449 Free PMC article.

2

The CFC syndrome--report of the first two cases outside the United States.

Neri G, Sabatino G, Bertini E, Genuardi M. Neri G, et al. Among authors: bertini e. Am J Med Genet. 1987 Aug;27(4):767-71. doi: 10.1002/ajmg.1320270404. Am J Med Genet. 1987. PMID: 3425595

3

Familial spastic paraplegia, axonal sensory-motor polyneuropathy and bulbar amyotrophy with facial dysmorphia: new cases of Troyer-like syndrome.

Bertini E, Sabatelli M, Di Capua M, Cilio MR, Mignogna T, Federico A, Tonali P. Bertini E, et al. Eur J Paediatr Neurol. 1998;2(5):245-54. doi: 10.1016/s1090-3798(98)80038-x. Eur J Paediatr Neurol. 1998. PMID: 10726827 Review.

4

A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis children.

Tessa A, Simonati A, Tavoni A, Bertini E, Santorelli FM. Tessa A, et al. Among authors: bertini e. Hum Mutat. 2000 Jun;15(6):577. doi: 10.1002/1098-1004(200006)15:6<577::AID-HUMU10>3.0.CO;2-Z. Hum Mutat. 2000. PMID: 10862088

5

Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutations.

Lira MG, Mottes M, Pignatti PF, Medica I, Uziel G, Cappa M, Bertini E, Rizzuto N, Salviati A. Lira MG, et al. Among authors: bertini e. Hum Mutat. 2000 Sep;16(3):271. doi: 10.1002/1098-1004(200009)16:3<271::AID-HUMU15>3.0.CO;2-D. Hum Mutat. 2000. PMID: 10980539

6

hGFRalpha-4: a new member of the GDNF receptor family and a candidate for NBIA.

Zhou B, Bae SK, Malone AC, Levinson BB, Kuo YM, Cilio MR, Bertini E, Hayflick SJ, Gitschier JM. Zhou B, et al. Among authors: bertini e. Pediatr Neurol. 2001 Aug;25(2):156-61. doi: 10.1016/s0887-8994(00)00277-0. Pediatr Neurol. 2001. PMID: 11551746

7

Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34.

Valente EM, Brancati F, Caputo V, Bertini E, Patrono C, Costanti D, Dallapiccola B. Valente EM, et al. Among authors: bertini e. Ann Neurol. 2002 Jun;51(6):681-5. doi: 10.1002/ana.10204. Ann Neurol. 2002. PMID: 12112072

8

Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation.

Valente EM, Salpietro DC, Brancati F, Bertini E, Galluccio T, Tortorella G, Briuglia S, Dallapiccola B. Valente EM, et al. Among authors: bertini e. Am J Hum Genet. 2003 Sep;73(3):663-70. doi: 10.1086/378241. Epub 2003 Aug 7. Am J Hum Genet. 2003. PMID: 12908130 Free PMC article.

9

Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts.

Patrono C, Di Giacinto G, Eymard-Pierre E, Santorelli FM, Rodriguez D, De Stefano N, Federico A, Gatti R, Benigno V, Megarbané A, Tabarki B, Boespflug-Tanguy O, Bertini E. Patrono C, et al. Among authors: bertini e. Neurology. 2003 Aug 26;61(4):534-7. doi: 10.1212/01.wnl.0000076184.21183.ca. Neurology. 2003. PMID: 12939431

10

Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type.

Grieco GS, Malandrini A, Comanducci G, Leuzzi V, Valoppi M, Tessa A, Palmeri S, Benedetti L, Pierallini A, Gambelli S, Federico A, Pierelli F, Bertini E, Casali C, Santorelli FM. Grieco GS, et al. Among authors: bertini e. Neurology. 2004 Jan 13;62(1):103-6. doi: 10.1212/01.wnl.0000104491.66816.77. Neurology. 2004. PMID: 14718707

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