Moroni I - Search Results

1

Intracranial calcification in early infantile Krabbe disease: nothing new under the sun.

Livingston JH, Graziano C, Pysden K, Crow YJ, Mordekar SR, Moroni I, Uziel G. Livingston JH, et al. Among authors: moroni i. Dev Med Child Neurol. 2012 Apr;54(4):376-9. doi: 10.1111/j.1469-8749.2011.04167.x. Epub 2011 Dec 8. Dev Med Child Neurol. 2012. PMID: 22150413 Free article.

2

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

3

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.

4

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

5

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

6

Cerebral white matter involvement in children with mitochondrial encephalopathies.

Moroni I, Bugiani M, Bizzi A, Castelli G, Lamantea E, Uziel G. Moroni I, et al. Neuropediatrics. 2002 Apr;33(2):79-85. doi: 10.1055/s-2002-32372. Neuropediatrics. 2002. PMID: 12075488

7

X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.

Bizzi A, Bugiani M, Salomons GS, Hunneman DH, Moroni I, Estienne M, Danesi U, Jakobs C, Uziel G. Bizzi A, et al. Among authors: moroni i. Ann Neurol. 2002 Aug;52(2):227-31. doi: 10.1002/ana.10246. Ann Neurol. 2002. PMID: 12210795

8

L-2-hydroxyglutaric aciduria and brain malignant tumors: a predisposing condition?

Moroni I, Bugiani M, D'Incerti L, Maccagnano C, Rimoldi M, Bissola L, Pollo B, Finocchiaro G, Uziel G. Moroni I, et al. Neurology. 2004 May 25;62(10):1882-4. doi: 10.1212/01.wnl.0000125335.21381.87. Neurology. 2004. PMID: 15159502 Review.

9

LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.

Di Blasi C, Piga D, Brioschi P, Moroni I, Pini A, Ruggieri A, Zanotti S, Uziel G, Jarre L, Della Giustina E, Scuderi C, Jonsrud C, Mantegazza R, Morandi L, Mora M. Di Blasi C, et al. Among authors: moroni i. Arch Neurol. 2005 Oct;62(10):1582-6. doi: 10.1001/archneur.62.10.1582. Arch Neurol. 2005. PMID: 16216942

10

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.

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