Biancheri R - Search Results

1

Spontaneously regressing leukoencephalopathy with bilateral temporal cysts in congenital rubella infection.

Severino M, Zerem A, Biancheri R, Cristina E, Rossi A. Severino M, et al. Among authors: biancheri r. Pediatr Infect Dis J. 2014 Apr;33(4):422-4. doi: 10.1097/INF.0000000000000134. Pediatr Infect Dis J. 2014. PMID: 24153011

2

Genetic disorders affecting white matter in the pediatric age.

Di Rocco M, Biancheri R, Rossi A, Filocamo M, Tortori-Donati P. Di Rocco M, et al. Among authors: biancheri r. Am J Med Genet B Neuropsychiatr Genet. 2004 Aug 15;129B(1):85-93. doi: 10.1002/ajmg.b.30029. Am J Med Genet B Neuropsychiatr Genet. 2004. PMID: 15274047 Review.

3

Cerebellar hypoplasia and brainstem thinning associated with severe white matter and basal ganglia abnormalities in a child with an mtDNA deletion.

Biancheri R, Bruno C, Cassandrini D, Bertini E, Santorelli FM, Rossi A. Biancheri R, et al. J Inherit Metab Dis. 2011 Dec;34(6):1225-7. doi: 10.1007/s10545-011-9376-7. Epub 2011 Aug 9. J Inherit Metab Dis. 2011. PMID: 21826524

4

Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility.

Giribaldi G, Doria-Lamba L, Biancheri R, Severino M, Rossi A, Santorelli FM, Schiaffino C, Caruso U, Piemonte F, Bruno C. Giribaldi G, et al. Among authors: biancheri r. Dev Med Child Neurol. 2012 May;54(5):472-6. doi: 10.1111/j.1469-8749.2011.04151.x. Epub 2011 Dec 5. Dev Med Child Neurol. 2012. PMID: 22142326 Free article.

5

Magnetic resonance spectroscopy in metabolic disorders.

Rossi A, Biancheri R. Rossi A, et al. Among authors: biancheri r. Neuroimaging Clin N Am. 2013 Aug;23(3):425-48. doi: 10.1016/j.nic.2012.12.013. Epub 2013 Feb 10. Neuroimaging Clin N Am. 2013. PMID: 23928198 Review.

6

Presence of delayed myelination and macrocephaly in the sister of a patient with vacuolating leukoencephalopathy with subcortical cysts.

Biancheri R, Pisaturo C, Perrone MV, Pessagno A, Rossi A, Veneselli E. Biancheri R, et al. Neuropediatrics. 2000 Dec;31(6):321-4. doi: 10.1055/s-2000-12949. Neuropediatrics. 2000. PMID: 11508554

7

The shrunken, bright cerebellum: a characteristic MRI finding in congenital disorders of glycosylation type 1a.

Feraco P, Mirabelli-Badenier M, Severino M, Alpigiani MG, Di Rocco M, Biancheri R, Rossi A. Feraco P, et al. Among authors: biancheri r. AJNR Am J Neuroradiol. 2012 Dec;33(11):2062-7. doi: 10.3174/ajnr.A3151. Epub 2012 Jun 21. AJNR Am J Neuroradiol. 2012. PMID: 22723063 Free PMC article.

8

MR imaging of brain-stem hypoplasia in horizontal gaze palsy with progressive scoliosis.

Rossi A, Catala M, Biancheri R, Di Comite R, Tortori-Donati P. Rossi A, et al. Among authors: biancheri r. AJNR Am J Neuroradiol. 2004 Jun-Jul;25(6):1046-8. AJNR Am J Neuroradiol. 2004. PMID: 15205146 Free PMC article.

9

Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping.

Biancheri R, Grossi S, Regis S, Rossi A, Corsolini F, Rossi DP, Cavalli P, Severino M, Filocamo M. Biancheri R, et al. Clin Genet. 2014 Mar;85(3):267-72. doi: 10.1111/cge.12154. Epub 2013 May 27. Clin Genet. 2014. PMID: 23711321

10

A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child.

Mirabelli-Badenier M, Severino M, Tappino B, Tortora D, Camia F, Zanaboni C, Brera F, Priolo E, Rossi A, Biancheri R, Di Rocco M, Filocamo M. Mirabelli-Badenier M, et al. Among authors: biancheri r. Metab Brain Dis. 2015 Jun;30(3):681-6. doi: 10.1007/s11011-014-9612-6. Epub 2014 Aug 26. Metab Brain Dis. 2015. PMID: 25156245

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