Moroni I - Search Results

1

GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy.

Bugiani M, Al Shahwan S, Lamantea E, Bizzi A, Bakhsh E, Moroni I, Balestrini MR, Uziel G, Zeviani M. Bugiani M, et al. Among authors: moroni i. Neurology. 2006 Jul 25;67(2):273-9. doi: 10.1212/01.wnl.0000223832.66286.e4. Epub 2006 May 17. Neurology. 2006. PMID: 16707726 Clinical Trial.

2

Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility.

Moroni I, Gonano EF, Comi GP, Tegazzin V, Prelle A, Bordoni A, Bresolin N, Scarlato G. Moroni I, et al. J Neurol. 1995 Feb;242(3):127-33. doi: 10.1007/BF00936884. J Neurol. 1995. PMID: 7751854

3

Riboflavin-responsive glutaric aciduria type II presenting as a leukodystrophy.

Uziel G, Garavaglia B, Ciceri E, Moroni I, Rimoldi M. Uziel G, et al. Among authors: moroni i. Pediatr Neurol. 1995 Nov;13(4):333-5. doi: 10.1016/0887-8994(95)00187-5. Pediatr Neurol. 1995. PMID: 8771170

4

Mild clinical phenotype in a 12-year-old boy with partial merosin deficiency and central and peripheral nervous system abnormalities.

Mora M, Moroni I, Uziel G, di Blasi C, Barresi R, Farina L, Morandi L. Mora M, et al. Among authors: moroni i. Neuromuscul Disord. 1996 Oct;6(5):377-81. doi: 10.1016/0960-8966(96)00359-8. Neuromuscul Disord. 1996. PMID: 8938702

5

Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families.

Uziel G, Moroni I, Lamantea E, Fratta GM, Ciceri E, Carrara F, Zeviani M. Uziel G, et al. Among authors: moroni i. J Neurol Neurosurg Psychiatry. 1997 Jul;63(1):16-22. doi: 10.1136/jnnp.63.1.16. J Neurol Neurosurg Psychiatry. 1997. PMID: 9221962 Free PMC article.

6

L-2-Hydroxyglutaric aciduria: MRI in seven cases.

D'Incerti L, Farina L, Moroni I, Uziel G, Savoiardo M. D'Incerti L, et al. Among authors: moroni i. Neuroradiology. 1998 Nov;40(11):727-33. doi: 10.1007/s002340050673. Neuroradiology. 1998. PMID: 9860123

7

3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease.

Di Rocco M, Caruso U, Moroni I, Lupino S, Lamantea E, Fantasia AR, Borrone C, Gibson KM. Di Rocco M, et al. Among authors: moroni i. J Inherit Metab Dis. 1999 Jun;22(5):593-8. doi: 10.1023/a:1005565610613. J Inherit Metab Dis. 1999. PMID: 10399091

8

X-linked adrenoleukodystrophy: first report of the Italian Study Group.

Di Biase A, Salvati S, Avellino C, Cappa M, Bertini E, Moroni I, Rimoldi M, Uziel G. Di Biase A, et al. Among authors: moroni i. Ital J Neurol Sci. 1998 Oct;19(5):315-9. doi: 10.1007/BF00713859. Ital J Neurol Sci. 1998. PMID: 10933453

9

Clinical, biochemical and neuroradiological findings in L-2-hydroxyglutaric aciduria.

Moroni I, D'Incerti L, Farina L, Rimoldi M, Uziel G. Moroni I, et al. Neurol Sci. 2000 Apr;21(2):103-8. doi: 10.1007/s100720070104. Neurol Sci. 2000. PMID: 10938189

10

Costello syndrome: a cancer predisposing syndrome?

Moroni I, Bedeschi F, Luksch R, Casanova M, D'Incerti L, Uziel G, Selicorni A. Moroni I, et al. Clin Dysmorphol. 2000 Oct;9(4):265-8. doi: 10.1097/00019605-200009040-00006. Clin Dysmorphol. 2000. PMID: 11045582 Review.

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