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Items: 1 to 20 of 71

1.

ALG12-CDG: novel glycophenotype insights endorse the molecular defect.

Sturiale L, Bianca S, Garozzo D, Terracciano A, Agolini E, Messina A, Palmigiano A, Esposito F, Barone C, Novelli A, Fiumara A, Jaeken J, Barone R.

Glycoconj J. 2019 Sep 16. doi: 10.1007/s10719-019-09890-2. [Epub ahead of print]

PMID:
31529350
2.

CSF N-Glycoproteomics Using MALDI MS Techniques in Neurodegenerative Diseases.

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

Methods Mol Biol. 2019;2044:255-272. doi: 10.1007/978-1-4939-9706-0_16.

PMID:
31432418
3.

Adjunct Diagnostic Value of Transcranial Magnetic Stimulation in Mucopolysaccharidosis-Related Cervical Myelopathy: A Pilot Study.

Cantone M, Lanza G, Le Pira A, Barone R, Pennisi G, Bella R, Pennisi M, Fiumara A.

Brain Sci. 2019 Aug 14;9(8). pii: E200. doi: 10.3390/brainsci9080200.

4.

Nuclear Peroxisome Proliferator-Activated Receptors (PPARs) as Therapeutic Targets of Resveratrol for Autism Spectrum Disorder.

Barone R, Rizzo R, Tabbì G, Malaguarnera M, Frye RE, Bastin J.

Int J Mol Sci. 2019 Apr 16;20(8). pii: E1878. doi: 10.3390/ijms20081878. Review.

5.

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl WA, Garozzo D, Hammer TB, Haven J, Héron D, Herzog M, Hoganson GE, Hunter JM, Jain M, Juusola J, Lakhani S, Lee H, Lee J, Lewis K, Longo N, Lourenço CM, Mak CCY, McKnight D, Mendelsohn BA, Mignot C, Mirzaa G, Mitchell W, Muhle H, Nelson SF, Olczak M, Palmer CGS, Partikian A, Patterson MC, Pierson TM, Quinonez SC, Regan BM, Ross ME, Guillen Sacoto MJ, Scaglia F, Scheffer IE, Segal D, Singhal NS, Striano P, Sturiale L, Symonds JD, Tang S, Vilain E, Willis M, Wolfe LA, Yang H, Yano S, Powis Z, Suchy SF, Rosenfeld JA, Edmondson AC, Grunewald S, Freeze HH.

Hum Mutat. 2019 Jul;40(7):908-925. doi: 10.1002/humu.23731. Epub 2019 Apr 24.

PMID:
30817854
6.

Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.

Zanetti A, D'Avanzo F, Rigon L, Rampazzo A, Concolino D, Barone R, Volpi N, Santoro L, Lualdi S, Bertola F, Scarpa M, Tomanin R.

Eur J Pediatr. 2019 May;178(5):739-753. doi: 10.1007/s00431-019-03341-8. Epub 2019 Feb 26.

7.

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 May;42(3):553-564. doi: 10.1002/jimd.12055. Epub 2019 Feb 11.

PMID:
30746764
8.

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.

9.

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. Erratum in: J Inherit Metab Dis. 2019 May;42(3):577.

PMID:
30740725
10.

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.

11.

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.

12.

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
13.

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. Review.

14.

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
15.

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.

16.

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.

17.

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
18.

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
19.

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
20.

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.

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