Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 112

1.

[Gender-sensitive risk assessment and health medical surveillance: some operative tools.]

Foddis R, Ficini G, Cristaudo A, Pistelli A, Carducci A, Caponi E, Biancheri R, Ninci A, Breschi C, Cristaudo A, Basso A, Bonfiglioli R, Larese Filon F, Simonini S, Spatari G, Tomao P, Verso MG, Scapellato ML.

G Ital Med Lav Ergon. 2017 Nov;39(3):214-217. Italian.

PMID:
29916592
2.

[The multidimensional concept of health and the gender category: theoretical and practical perspectives.]

Biancheri R.

G Ital Med Lav Ergon. 2017 Nov;39(3):199-202. Italian.

PMID:
29916589
3.

White matter involvement in a family with a novel PDGFB mutation.

Biancheri R, Severino M, Robbiano A, Iacomino M, Del Sette M, Minetti C, Cervasio M, Del Basso De Caro M, Striano P, Zara F.

Neurol Genet. 2016 May 5;2(3):e77. doi: 10.1212/NXG.0000000000000077. eCollection 2016 Jun.

4.

TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.

Tonduti D, Aiello C, Renaldo F, Dorboz I, Saaman S, Rodriguez D, Fettah H, Elmaleh M, Biancheri R, Barresi S, Boccone L, Orcesi S, Pichiecchio A, Zangaglia R, Maurey H, Rossi A, Boespflug-Tanguy O, Bertini E.

Eur J Paediatr Neurol. 2016 Mar;20(2):323-330. doi: 10.1016/j.ejpn.2015.11.006. Epub 2015 Nov 28.

PMID:
26643067
5.

The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane.

Baskin JM, Wu X, Christiano R, Oh MS, Schauder CM, Gazzerro E, Messa M, Baldassari S, Assereto S, Biancheri R, Zara F, Minetti C, Raimondi A, Simons M, Walther TC, Reinisch KM, De Camilli P.

Nat Cell Biol. 2016 Jan;18(1):132-8. doi: 10.1038/ncb3271. Epub 2015 Nov 16.

6.

Hypomyelination and Congenital Cataract.

Biancheri R, Zara F, Bruno C, Gazzerro E, Rossi A, van der Knaap MS, Minetti C.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2008 Oct 14 [updated 2015 Jun 4].

7.

The genotypic and phenotypic spectrum of PIGA deficiency.

Tarailo-Graovac M, Sinclair G, Stockler-Ipsiroglu S, Van Allen M, Rozmus J, Shyr C, Biancheri R, Oh T, Sayson B, Lafek M, Ross CJ, Robinson WP, Wasserman WW, Rossi A, van Karnebeek CD.

Orphanet J Rare Dis. 2015 Feb 27;10:23. doi: 10.1186/s13023-015-0243-8.

8.

Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation.

Biancheri R, Lamantea E, Severino M, Diodato D, Pedemonte M, Cassandrini D, Ploederl A, Trucco F, Fiorillo C, Minetti C, Santorelli FM, Zeviani M, Bruno C.

JIMD Rep. 2015;23:85-9. doi: 10.1007/8904_2015_434. Epub 2015 Apr 9.

9.

Inferior olivary nucleus involvement in pediatric neurodegenerative disorders: does it play a role in neuroimaging pattern-recognition approach?

Mirabelli-Badenier M, Morana G, Bruno C, Di Rocco M, Striano P, De Grandis E, Veneselli E, Rossi A, Biancheri R.

Neuropediatrics. 2015 Apr;46(2):104-9. doi: 10.1055/s-0035-1544185. Epub 2015 Feb 16.

PMID:
25686202
10.

Heterozygous deletion of CHL1 gene: detailed array-CGH and clinical characterization of a new case and review of the literature.

Tassano E, Biancheri R, Denegri L, Porta S, Novara F, Zuffardi O, Gimelli G, Cuoco C.

Eur J Med Genet. 2014 Nov-Dec;57(11-12):626-9. Review.

PMID:
25451713
11.

Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities.

Salvarinova R, Ye CX, Rossi A, Biancheri R, Roland EH, Pavlidis P, Ross CJ, Tarailo-Graovac M, Wasserman WW, van Karnebeek CD.

Neurogenetics. 2015 Apr;16(2):145-9. doi: 10.1007/s10048-014-0432-y. Epub 2014 Nov 30.

PMID:
25432320
12.

Acute post-infectious cerebellar ataxia due to co-infection of human herpesvirus-6 and adenovirus mimicking myositis.

Naselli A, Pala G, Cresta F, Finetti M, Biancheri R, Renna S.

Ital J Pediatr. 2014 Nov 26;40:98. doi: 10.1186/s13052-014-0098-y.

13.

Cranial nerve and cauda equina contrast enhancement in Cockayne syndrome.

Biancheri R, Mancardi MM, Celle ME, Nardo T, Morana G.

Neurology. 2014 Oct 21;83(17):1581. doi: 10.1212/WNL.0000000000000903. No abstract available.

PMID:
25332446
14.

Periventricular nodular heterotopia in Smith-Magenis syndrome.

Capra V, Biancheri R, Morana G, Striano P, Novara F, Ferrero GB, Boeri L, Celle ME, Mancardi MM, Zuffardi O, Parrini E, Guerrini R.

Am J Med Genet A. 2014 Dec;164A(12):3142-7. doi: 10.1002/ajmg.a.36742. Epub 2014 Sep 24.

PMID:
25257626
15.

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.

Metab Brain Dis. 2015 Jun;30(3):681-6. doi: 10.1007/s11011-014-9612-6. Epub 2014 Aug 26.

PMID:
25156245
16.

AIMP1 deficiency presents as a cortical neurodegenerative disease with infantile onset.

Armstrong L, Biancheri R, Shyr C, Rossi A, Sinclair G, Ross CJ, Tarailo-Graovac M, Wasserman WW, van Karnebeek CD.

Neurogenetics. 2014 Aug;15(3):157-9. doi: 10.1007/s10048-014-0411-3. Epub 2014 Jun 24.

PMID:
24958424
17.

A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers.

Siri L, Rossi A, Lanza F, Mazzotti R, Costa A, Stroppiano M, Gaiero A, Cohen A, Biancheri R, Filocamo M.

Neurogenetics. 2014 May;15(2):101-6. doi: 10.1007/s10048-014-0390-4. Epub 2014 Jan 31.

PMID:
24478108
18.

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

Severino M, Zerem A, Biancheri R, Cristina E, Rossi A.

Pediatr Infect Dis J. 2014 Apr;33(4):422-4. doi: 10.1097/INF.0000000000000134.

PMID:
24153011
19.

Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I.

Assereto S, Robbiano A, Di Rocco M, Rossi A, Cassandrini D, Panicucci C, Brigati G, Biancheri R, Bruno C, Minetti C, Trucks H, Sander T, Zara F, Gazzerro E.

Clin Genet. 2014 Jul;86(1):99-101. doi: 10.1111/cge.12248. Epub 2013 Sep 11. No abstract available.

PMID:
24020637
20.

Novel FAM126A mutations in hypomyelination and congenital cataract disease.

Traverso M, Assereto S, Gazzerro E, Savasta S, Abdalla EM, Rossi A, Baldassari S, Fruscione F, Ruffinazzi G, Fassad MR, El Beheiry A, Minetti C, Zara F, Biancheri R.

Biochem Biophys Res Commun. 2013 Sep 27;439(3):369-72. doi: 10.1016/j.bbrc.2013.08.077. Epub 2013 Aug 30.

PMID:
23998934
21.

Anti-NMDAR encephalitis misdiagnosed as Hashimoto's encephalopathy.

Mirabelli-Badenier M, Biancheri R, Morana G, Fornarino S, Siri L, Celle ME, Veneselli E, Vincent A, Gaggero R, Mancardi MM.

Eur J Paediatr Neurol. 2014 Jan;18(1):72-4. doi: 10.1016/j.ejpn.2013.07.002. Epub 2013 Aug 15.

PMID:
23953644
22.

Magnetic resonance spectroscopy in metabolic disorders.

Rossi A, Biancheri R.

Neuroimaging Clin N Am. 2013 Aug;23(3):425-48. doi: 10.1016/j.nic.2012.12.013. Epub 2013 Feb 10. Review.

PMID:
23928198
23.

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.

Clin Genet. 2014 Mar;85(3):267-72. doi: 10.1111/cge.12154. Epub 2013 May 27.

PMID:
23711321
24.

EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.

Biancheri R, Cassandrini D, Pinto F, Trovato R, Di Rocco M, Mirabelli-Badenier M, Pedemonte M, Panicucci C, Trucks H, Sander T, Zara F, Rossi A, Striano P, Minetti C, Santorelli FM.

J Neurol. 2013 Jul;260(7):1866-70. doi: 10.1007/s00415-013-6896-0. Epub 2013 Apr 7.

PMID:
23564332
25.

[Occupational health and safety and gender differences: need for the identification of an adequate risk assessment].

Ficini G, Caponi E, Cervia S, Piu M, Cristaudo A, Carducci A, Biancheri R, Foddis R.

G Ital Med Lav Ergon. 2012 Jul-Sep;34(3 Suppl):766-8. Italian.

PMID:
23405774
26.

Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.

Santorelli FM, Garavaglia B, Cardona F, Nardocci N, Bernardina BD, Sartori S, Suppiej A, Bertini E, Claps D, Battini R, Biancheri R, Filocamo M, Pezzini F, Simonati A.

Orphanet J Rare Dis. 2013 Feb 2;8:19. doi: 10.1186/1750-1172-8-19.

27.

Magnetic resonance imaging "tigroid pattern" in Alexander disease.

Biancheri R, Rossi A, Ceccherini I, Pezzella M, Prato G, Striano P, Minetti C.

Neuropediatrics. 2013 Jun;44(3):174-6. doi: 10.1055/s-0032-1329910. Epub 2012 Dec 19.

PMID:
23254569
28.

Lack of SLC2A1 (glucose transporter 1) mutations in 30 Italian patients with alternating hemiplegia of childhood.

De Grandis E, Stagnaro M, Biancheri R, Giannotta M, Gobbi G, Traverso M, Veneselli E, Zara F.

J Child Neurol. 2013 Jul;28(7):863-6. doi: 10.1177/0883073812452789. Epub 2012 Aug 16.

PMID:
22899793
29.

Hypomyelination and congenital cataract: identification of novel mutations in two unrelated families.

Traverso M, Yuregir OO, Mimouni-Bloch A, Rossi A, Aslan H, Gazzerro E, Baldassari S, Fruscione F, Minetti C, Zara F, Biancheri R.

Eur J Paediatr Neurol. 2013 Jan;17(1):108-11. doi: 10.1016/j.ejpn.2012.06.004. Epub 2012 Jun 30.

PMID:
22749724
30.

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.

AJNR Am J Neuroradiol. 2012 Dec;33(11):2062-7. doi: 10.3174/ajnr.A3151. Epub 2012 Jun 21.

31.

Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form.

Biancheri R, Rosano C, Denegri L, Lamantea E, Pinto F, Lanza F, Severino M, Filocamo M.

Eur J Hum Genet. 2013 Jan;21(1):34-9. doi: 10.1038/ejhg.2012.93. Epub 2012 Jun 6.

32.

TRPV4 mutations in children with congenital distal spinal muscular atrophy.

Fiorillo C, Moro F, Brisca G, Astrea G, Nesti C, Bálint Z, Olschewski A, Meschini MC, Guelly C, Auer-Grumbach M, Battini R, Pedemonte M, Romano A, Menchise V, Biancheri R, Santorelli FM, Bruno C.

Neurogenetics. 2012 Aug;13(3):195-203. doi: 10.1007/s10048-012-0328-7. Epub 2012 Apr 25.

PMID:
22526352
33.

Anti-glutamic acid decarboxylase limbic encephalitis without epilepsy evolving into dementia with cerebellar ataxia.

Mirabelli-Badenier M, Morana G, Pinto F, Uccelli A, Veneselli E, Battaglia FM, Biancheri R, Baglietto MG, Vincent A, Mancardi MM.

Arch Neurol. 2012 Aug;69(8):1064-6. doi: 10.1001/archneurol.2012.234.

PMID:
22507885
34.

Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein.

Gazzerro E, Baldassari S, Giacomini C, Musante V, Fruscione F, La Padula V, Biancheri R, Scarfì S, Prada V, Sotgia F, Duncan ID, Zara F, Werner HB, Lisanti MP, Nobbio L, Corradi A, Minetti C.

PLoS One. 2012;7(3):e32180. doi: 10.1371/journal.pone.0032180. Epub 2012 Mar 26.

35.

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.

Dev Med Child Neurol. 2012 May;54(5):472-6. doi: 10.1111/j.1469-8749.2011.04151.x. Epub 2011 Dec 5.

36.

Early-onset neurodegeneration with brain iron accumulation due to PANK2 mutation.

Rossi D, De Grandis E, Barzaghi C, Mascaretti M, Garavaglia B, Zanotto E, Morana G, Biancheri R.

Brain Dev. 2012 Jun;34(6):536-8. doi: 10.1016/j.braindev.2011.09.010. Epub 2011 Oct 14.

PMID:
21999968
37.

Anti-N-methyl-D-aspartate-receptor encephalitis: cognitive profile in two children.

Iadisernia E, Battaglia FM, Vanadia E, Trapolino E, Vincent A, Biancheri R.

Eur J Paediatr Neurol. 2012 Jan;16(1):79-82. doi: 10.1016/j.ejpn.2011.09.004. Epub 2011 Oct 6.

PMID:
21982543
38.

Immunomodulatory therapy in recurrent acute necrotizing encephalopathy ANE1: is it useful?

Bergamino L, Capra V, Biancheri R, Rossi A, Tacchella A, Ambrosini L, Mizuguchi M, Saitoh M, Marazzi MG.

Brain Dev. 2012 May;34(5):384-91. doi: 10.1016/j.braindev.2011.08.001. Epub 2011 Sep 25.

PMID:
21945312
39.

Hypomyelination and congenital cataract: broadening the clinical phenotype.

Biancheri R, Zara F, Rossi A, Mathot M, Nassogne MC, Yalcinkaya C, Erturk O, Tuysuz B, Di Rocco M, Gazzerro E, Bugiani M, van Spaendonk R, Sistermans EA, Minetti C, van der Knaap MS, Wolf NI.

Arch Neurol. 2011 Sep;68(9):1191-4. doi: 10.1001/archneurol.2011.201. Review.

PMID:
21911699
40.

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.

J Inherit Metab Dis. 2011 Dec;34(6):1225-7. doi: 10.1007/s10545-011-9376-7. Epub 2011 Aug 9.

PMID:
21826524
41.

Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations.

Grossi S, Regis S, Biancheri R, Mort M, Lualdi S, Bertini E, Uziel G, Boespflug-Tanguy O, Simonati A, Corsolini F, Demir E, Marchiani V, Percesepe A, Stanzial F, Rossi A, Vaurs-Barrière C, Cooper DN, Filocamo M.

Orphanet J Rare Dis. 2011 Jun 16;6:40. doi: 10.1186/1750-1172-6-40.

42.

AIMP1/p43 mutation and PMLD.

Biancheri R, Rossi A, Zara F, Filocamo M.

Am J Hum Genet. 2011 Mar 11;88(3):391; author reply 393-5. doi: 10.1016/j.ajhg.2011.02.003. No abstract available.

43.

Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies.

Cassandrini D, Biancheri R, Tessa A, Di Rocco M, Di Capua M, Bruno C, Denora PS, Sartori S, Rossi A, Nozza P, Emma F, Mezzano P, Politi MR, Laverda AM, Zara F, Pavone L, Simonati A, Leuzzi V, Santorelli FM, Bertini E.

Neurology. 2010 Oct 19;75(16):1459-64. doi: 10.1212/WNL.0b013e3181f88173.

PMID:
20956791
44.

A novel polymorphic AP-1 binding element of the GFAP promoter is associated with different allelic transcriptional activities.

Bachetti T, Di Zanni E, Lantieri F, Caroli F, Regis S, Filocamo M, Rainero I, Gallone S, Cilia R, Romano S, Savoiardo M, Pareyson D, Biancheri R, Ravazzolo R, Ceccherini I.

Ann Hum Genet. 2010 Nov;74(6):506-15. doi: 10.1111/j.1469-1809.2010.00614.x.

45.

Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.

Tappino B, Biancheri R, Mort M, Regis S, Corsolini F, Rossi A, Stroppiano M, Lualdi S, Fiumara A, Bembi B, Di Rocco M, Cooper DN, Filocamo M.

Hum Mutat. 2010 Dec;31(12):E1894-914. doi: 10.1002/humu.21367.

46.

Congenital muscular dystrophies with cognitive impairment. A population study.

Messina S, Bruno C, Moroni I, Pegoraro E, D'Amico A, Biancheri R, Berardinelli A, Boffi P, Cassandrini D, Farina L, Minetti C, Moggio M, Mongini T, Mottarelli E, Pane M, Pantaleoni C, Pichiecchio A, Pini A, Ricci E, Saredi S, Sframeli M, Tortorella G, Toscano A, Trevisan CP, Uggetti C, Vasco G, Comi GP, Santorelli FM, Bertini E, Mercuri E.

Neurology. 2010 Sep 7;75(10):898-903. doi: 10.1212/WNL.0b013e3181f11dd5.

PMID:
20820001
47.

Cavitating leukoencephalopathy in a child carrying the mitochondrial A8344G mutation.

Biancheri R, Rossi D, Cassandrini D, Rossi A, Bruno C, Santorelli FM.

AJNR Am J Neuroradiol. 2010 Oct;31(9):E78-9. doi: 10.3174/ajnr.A2182. Epub 2010 Jun 25. No abstract available.

48.

Cognitive profile in spastic paraplegia with thin corpus callosum and mutations in SPG11.

Siri L, Battaglia FM, Tessa A, Rossi A, Rocco MD, Facchinetti S, Mascaretti M, Santorelli FM, Veneselli E, Biancheri R.

Neuropediatrics. 2010 Feb;41(1):35-8. doi: 10.1055/s-0030-1253352. Epub 2010 Jun 22.

PMID:
20571989
49.

Enhancing cranial nerves and cauda equina: an emerging magnetic resonance imaging pattern in metachromatic leukodystrophy and krabbe disease.

Morana G, Biancheri R, Dirocco M, Filocamo M, Marazzi MG, Pessagno A, Rossi A.

Neuropediatrics. 2009 Dec;40(6):291-4. doi: 10.1055/s-0030-1249654. Epub 2010 May 5.

PMID:
20446225
50.

Anti-N-methyl-D-aspartate-receptor encephalitis in a four-year-old girl.

Biancheri R, Pessagno A, Baglietto MG, Irani SR, Rossi A, Giribaldi G, Badenier MM, Vincent A, Veneselli E.

J Pediatr. 2010 Feb;156(2):332-4. doi: 10.1016/j.jpeds.2009.07.057.

PMID:
20105645

Supplemental Content

Loading ...
Support Center