Bertini E - Search Results

1

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.

Dentici ML, Barresi S, Nardella M, Bellacchio E, Alfieri P, Bruselles A, Pantaleoni F, Danieli A, Iarossi G, Cappa M, Bertini E, Tartaglia M, Zanni G. Dentici ML, et al. Among authors: bertini e. Gene. 2017 Sep 10;628:141-145. doi: 10.1016/j.gene.2017.07.017. Epub 2017 Jul 8. Gene. 2017. PMID: 28698159 Free PMC article.

2

[Neuroendocrine changes in adrenoleukodystrophy (ALD). Their relationship with new therapeutic strategies].

Cappa M, Lancia A, Cambiaso P, Del Balzo P, Di Capua M, Danielli E, Gambetti M, Bertini E. Cappa M, et al. Among authors: bertini e. Minerva Pediatr. 1991 Mar;43(3):125-6. Minerva Pediatr. 1991. PMID: 1870506 Italian. No abstract available.

3

High dose immunoglobulin IV treatment in adrenoleukodystrophy.

Cappa M, Bertini E, del Balzo P, Cambiaso P, Di Biase A, Salvati S. Cappa M, et al. Among authors: bertini e. J Neurol Neurosurg Psychiatry. 1994 Nov;57 Suppl(Suppl):69-70; discussion 71. doi: 10.1136/jnnp.57.suppl.69. J Neurol Neurosurg Psychiatry. 1994. PMID: 7964860 Free PMC article. Clinical Trial.

4

Abnormalities of somatosensory and motor evoked potentials in adrenomyeloneuropathy: comparison with magnetic resonance imaging and clinical findings.

Restuccia D, Di Lazzaro V, Valeriani M, Oliviero A, Le Pera D, Barba C, Cappa M, Bertini E, Tonali P. Restuccia D, et al. Among authors: bertini e. Muscle Nerve. 1997 Oct;20(10):1249-57. doi: 10.1002/(sici)1097-4598(199710)20:10<1249::aid-mus7>3.0.co;2-c. Muscle Nerve. 1997. PMID: 9324081

5

Two novel missense mutations causing adrenoleukodystrophy in Italian patients.

Perusi C, Gomez-Lira M, Mottes M, Pignatti PF, Bertini E, Cappa M, Vigliani MC, Schiffer D, Rizzuto N, Salviati A. Perusi C, et al. Among authors: bertini e. Mol Cell Probes. 1999 Jun;13(3):179-82. doi: 10.1006/mcpr.1999.0232. Mol Cell Probes. 1999. PMID: 10369742

6

X-linked congenital ataxia: a clinical and genetic study.

Bertini E, des Portes V, Zanni G, Santorelli F, Dionisi-Vici C, Vicari S, Fariello G, Chelly J. Bertini E, et al. Am J Med Genet. 2000 May 1;92(1):53-6. Am J Med Genet. 2000. PMID: 10797423

7

Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia.

Zanni G, Saillour Y, Nagara M, Billuart P, Castelnau L, Moraine C, Faivre L, Bertini E, Durr A, Guichet A, Rodriguez D, des Portes V, Beldjord C, Chelly J. Zanni G, et al. Among authors: bertini e. Neurology. 2005 Nov 8;65(9):1364-9. doi: 10.1212/01.wnl.0000182813.94713.ee. Epub 2005 Oct 12. Neurology. 2005. PMID: 16221952

8

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.

Valente EM, Brancati F, Silhavy JL, Castori M, Marsh SE, Barrano G, Bertini E, Boltshauser E, Zaki MS, Abdel-Aleem A, Abdel-Salam GM, Bellacchio E, Battini R, Cruse RP, Dobyns WB, Krishnamoorthy KS, Lagier-Tourenne C, Magee A, Pascual-Castroviejo I, Salpietro CD, Sarco D, Dallapiccola B, Gleeson JG; International JSRD Study Group. Valente EM, et al. Among authors: bertini e. Ann Neurol. 2006 Mar;59(3):527-34. doi: 10.1002/ana.20749. Ann Neurol. 2006. PMID: 16453322 Free article.

9

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.

Valente EM, Silhavy JL, Brancati F, Barrano G, Krishnaswami SR, Castori M, Lancaster MA, Boltshauser E, Boccone L, Al-Gazali L, Fazzi E, Signorini S, Louie CM, Bellacchio E; International Joubert Syndrome Related Disorders Study Group; Bertini E, Dallapiccola B, Gleeson JG. Valente EM, et al. Among authors: bertini e. Nat Genet. 2006 Jun;38(6):623-5. doi: 10.1038/ng1805. Epub 2006 May 7. Nat Genet. 2006. PMID: 16682970

10

X-linked congenital ataxia: a new locus maps to Xq25-q27.1.

Zanni G, Bertini E, Bellcross C, Nedelec B, Froyen G, Neuhäuser G, Opitz JM, Chelly J. Zanni G, et al. Among authors: bertini e. Am J Med Genet A. 2008 Mar 1;146A(5):593-600. doi: 10.1002/ajmg.a.32186. Am J Med Genet A. 2008. PMID: 18241076

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