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Items: 1 to 20 of 65

1.

Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.

Vals MA, Ashikov A, Ilves P, Loorits D, Zeng Q, Barone R, Huijben K, Sykut-Cegielska J, Diogo L, Elias AF, Greenwood RS, Grunewald S, van Hasselt PM, van de Kamp JM, Mancini G, Okninska A, Pajusalu S, Rudd PM, Rustad CF, Salvarinova R, de Vries BBA, Wolf NI; EPGEN Study, Ng BG, Freeze HH, Lefeber DJ, Õunap K.

J Inherit Metab Dis. 2019 Jan 12. doi: 10.1002/jimd.12055. [Epub ahead of print]

PMID:
30746764
2.

Online comprehension across different semantic categories in preschool children with autism spectrum disorder.

Barone R, Spampinato C, Pino C, Palermo F, Scuderi A, Zavattieri A, Gulisano M, Giordano D, Rizzo R.

PLoS One. 2019 Feb 11;14(2):e0211802. doi: 10.1371/journal.pone.0211802. eCollection 2019.

3.

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.

Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E.

J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. Review.

PMID:
30740725
4.

A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses.

Barone R, Alaimo S, Messina M, Pulvirenti A, Bastin J; MIMIC-Autism Group, Ferro A, Frye RE, Rizzo R.

Front Psychiatry. 2018 Dec 7;9:636. doi: 10.3389/fpsyt.2018.00636. eCollection 2018.

5.

Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses.

Barone R, Pellico A, Pittalà A, Gasperini S.

Ital J Pediatr. 2018 Nov 16;44(Suppl 2):121. doi: 10.1186/s13052-018-0561-2. Review.

6.

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
7.

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.

8.

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
9.

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.

10.

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.

11.

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
12.

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
13.

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
14.

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.

15.

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
16.

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.

17.

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
18.

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
19.

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
20.

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.

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