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Items: 1 to 20 of 60

1.

Study on the Role of Polymorphisms of the SOX-6 and MYB Genes and Fetal Hemoglobin Levels in Sicilian Patients with β-Thalassemia and Sickle Cell Disease.

Listì F, Sclafani S, Agrigento V, Barone R, Maggio A, D'Alcamo E.

Hemoglobin. 2018 Mar;42(2):103-107. doi: 10.1080/03630269.2018.1482832.

PMID:
30200835
2.

KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.

Ardissone A, Tonduti D, Legati A, Lamantea E, Barone R, Dorboz I, Boespflug-Tanguy O, Nebbia G, Maggioni M, Garavaglia B, Moroni I, Farina L, Pichiecchio A, Orcesi S, Chiapparini L, Ghezzi D.

Orphanet J Rare Dis. 2018 Apr 4;13(1):45. doi: 10.1186/s13023-018-0788-4.

3.

CSF N-Glycomics Using MALDI MS Techniques in Alzheimer's Disease.

Palmigiano A, Messina A, Bua RO, Barone R, Sturiale L, Zappia M, Garozzo D.

Methods Mol Biol. 2018;1750:75-91. doi: 10.1007/978-1-4939-7704-8_5.

PMID:
29512066
4.

Unusual Neurological Presentation of Nevoid Basal Cell Carcinoma Syndrome (Gorlin-Goltz Syndrome).

Pennisi M, Lanza G, Cantone M, Schepis C, Ferri R, Barone R, Bella R.

J Clin Neurol. 2017 Oct;13(4):439-441. doi: 10.3988/jcn.2017.13.4.439. Epub 2017 Sep 4. No abstract available.

5.

Expression and Regulatory Network Analysis of miR-140-3p, a New Potential Serum Biomarker for Autism Spectrum Disorder.

Cirnigliaro M, Barbagallo C, Gulisano M, Domini CN, Barone R, Barbagallo D, Ragusa M, Di Pietro C, Rizzo R, Purrello M.

Front Mol Neurosci. 2017 Aug 10;10:250. doi: 10.3389/fnmol.2017.00250. eCollection 2017.

6.

Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders.

Barone R, Fichera M, De Grandi M, Battaglia M, Lo Faro V, Mattina T, Rizzo R.

Am J Med Genet A. 2017 Jun;173(6):1649-1655. doi: 10.1002/ajmg.a.38205. Epub 2017 Apr 13.

PMID:
28407444
7.

Prominent neurological involvement in Dercum disease.

Cantone M, Lanza G, Pennisi M, Bella R, Schepis C, Siragusa M, Barone R, Ferri R.

J Neurol. 2017 Apr;264(4):796-798. doi: 10.1007/s00415-017-8415-1. Epub 2017 Feb 13. No abstract available.

PMID:
28194532
8.

Early-Onset Epileptic Encephalopathy in infants with different forms of Congenital Disorders of Glycosylation (CDG).

Fiumara A, Barone R, Del Campo G, Striano P, Jaeken J.

Brain Dev. 2017 Apr;39(4):366-367. doi: 10.1016/j.braindev.2016.11.008. Epub 2016 Dec 4. No abstract available.

PMID:
27923528
9.

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SL, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC; University of Washington Center for Mendelian Genomics, Matthijs G, Freeze HH.

Hum Mutat. 2016 Jul;37(7):653-60. doi: 10.1002/humu.22983. Epub 2016 Mar 21.

10.

CSF N-glycoproteomics for early diagnosis in Alzheimer's disease.

Palmigiano A, Barone R, Sturiale L, Sanfilippo C, Bua RO, Romeo DA, Messina A, Capuana ML, Maci T, Le Pira F, Zappia M, Garozzo D.

J Proteomics. 2016 Jan 10;131:29-37. doi: 10.1016/j.jprot.2015.10.006. Epub 2015 Oct 9.

PMID:
26455811
11.

Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs).

Fiumara A, Barone R, Del Campo G, Striano P, Jaeken J.

JIMD Rep. 2016;27:93-9. doi: 10.1007/8904_2015_497. Epub 2015 Oct 10.

12.

CSF N-glycan profile reveals sialylation deficiency in a patient with GM2 gangliosidosis presenting as childhood disintegrative disorder.

Barone R, Sturiale L, Fiumara A, Palmigiano A, Bua RO, Rizzo R, Zappia M, Garozzo D.

Autism Res. 2016 Apr;9(4):423-8. doi: 10.1002/aur.1541. Epub 2015 Aug 19.

PMID:
26286102
13.

Miglustat Does Not Prevent Neurological Involvement in Niemann Pick C Disease.

Di Rocco M, Barone R, Madeo A, Fiumara A.

Pediatr Neurol. 2015 Oct;53(4):e15. doi: 10.1016/j.pediatrneurol.2015.06.017. Epub 2015 Jul 8. No abstract available.

PMID:
26255750
14.

Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.

Caciotti A, Tonin R, Rigoldi M, Ferri L, Catarzi S, Cavicchi C, Procopio E, Donati MA, Ficcadenti A, Fiumara A, Barone R, Garavelli L, Rocco MD, Filocamo M, Antuzzi D, Scarpa M, Mooney SD, Li B, Skouma A, Bianca S, Concolino D, Casalone R, Monti E, Pantaleo M, Giglio S, Guerrini R, Parini R, Morrone A.

Hum Mutat. 2015 Mar;36(3):357-68. doi: 10.1002/humu.22751.

PMID:
25545067
15.

Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response.

Fichera M, Barone R, Grillo L, De Grandi M, Fiore V, Morana I, Maniscalchi T, Vinci M, Amata S, Spalletta A, Sorge G, Signorelli SS.

Mol Cytogenet. 2014 Dec 19;7(1):90. doi: 10.1186/s13039-014-0090-7. eCollection 2014.

16.

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.

Barone R, Carrozzi M, Parini R, Battini R, Martinelli D, Elia M, Spada M, Lilliu F, Ciana G, Burlina A, Leuzzi V, Leoni M, Sturiale L, Matthijs G, Jaeken J, Di Rocco M, Garozzo D, Fiumara A.

J Neurol. 2015 Jan;262(1):154-64. doi: 10.1007/s00415-014-7549-7. Epub 2014 Oct 30.

PMID:
25355454
17.

Congenital disorders of glycosylation with emphasis on cerebellar involvement.

Barone R, Fiumara A, Jaeken J.

Semin Neurol. 2014 Jul;34(3):357-66. doi: 10.1055/s-0034-1387197. Epub 2014 Sep 5. Review.

PMID:
25192513
18.

Deferiprone versus deferoxamine in sickle cell disease: results from a 5-year long-term Italian multi-center randomized clinical trial.

Calvaruso G, Vitrano A, Di Maggio R, Ballas S, Steinberg MH, Rigano P, Sacco M, Telfer P, Renda D, Barone R, Maggio A; Investigators of the Multicenter Randomized Clinical Trial of Deferiprone versus Deferoxamine in Sickle-Cell-Disease.

Blood Cells Mol Dis. 2014 Dec;53(4):265-71. doi: 10.1016/j.bcmd.2014.04.004. Epub 2014 May 9.

PMID:
24814618
19.

Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype?

Leuzzi V, Mastrangelo M, Polizzi A, Artiola C, van Kuilenburg AB, Carducci C, Ruggieri M, Barone R, Tavazzi B, Abeling NG, Zoetekouw L, Sofia V, Zappia M, Carducci C.

JIMD Rep. 2015;15:39-45. doi: 10.1007/8904_2014_295. Epub 2014 May 1.

20.

Imaging findings of mucopolysaccharidoses: a pictorial review.

Palmucci S, Attinà G, Lanza ML, Belfiore G, Cappello G, Foti PV, Milone P, Di Bella D, Barone R, Fiumara A, Sorge G, Ettorre GC.

Insights Imaging. 2013 Aug;4(4):443-59. doi: 10.1007/s13244-013-0246-8. Epub 2013 May 5.

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