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Items: 1 to 50 of 164

1.

Long-term outcome of children born from mothers with autoimmune diseases.

Nalli C, Galli J, Lazzaroni MG, Andreoli L, Fazzi E, Tincani A.

Best Pract Res Clin Obstet Gynaecol. 2019 Nov 13. pii: S1521-6934(19)30166-X. doi: 10.1016/j.bpobgyn.2019.11.003. [Epub ahead of print] Review.

PMID:
31787531
2.

Visuospatial Attention and Saccadic Inhibitory Control in Children With Cerebral Palsy.

Maioli C, Falciati L, Galli J, Micheletti S, Turetti L, Balconi M, Fazzi EM.

Front Hum Neurosci. 2019 Nov 8;13:392. doi: 10.3389/fnhum.2019.00392. eCollection 2019.

3.

Generation of three isogenic induced Pluripotent Stem Cell lines (iPSCs) from fibroblasts of a patient with Aicardi Goutières Syndrome carrying a c.2471G>A dominant mutation in IFIH1 gene.

Masneri S, Lanzi G, Ferraro RM, Barisani C, Piovani G, Savio G, Cattalini M, Galli J, Cereda C, Muzi-Falconi M, Orcesi S, Fazzi E, Giliani S.

Stem Cell Res. 2019 Oct 22;41:101623. doi: 10.1016/j.scr.2019.101623. [Epub ahead of print]

4.

Incontinentia Pigmenti Associated with Aplasia Cutis Congenita in a Newborn Male with Klinefelter Syndrome: Is the Severity of Neurological Involvement Linked to Skin Manifestations?

Moro R, Fabiano A, Calzavara-Pinton P, Cardinale J, Palumbo G, Giliani S, Lanzi G, Antonelli F, De Simone M, Martelli P, Fazzi E, Pinelli L, Gualdi G.

Dermatol Ther (Heidelb). 2019 Nov 6. doi: 10.1007/s13555-019-00336-z. [Epub ahead of print]

PMID:
31691923
5.

Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B.

Ferraro RM, Masneri S, Lanzi G, Barisani C, Piovani G, Savio G, Cattalini M, Galli J, Cereda C, Muzi-Falconi M, Orcesi S, Fazzi E, Giliani S.

Stem Cell Res. 2019 Oct 22;41:101620. doi: 10.1016/j.scr.2019.101620. [Epub ahead of print]

6.

Generation of three iPSC lines from fibroblasts of a patient with Aicardi Goutières Syndrome mutated in TREX1.

Ferraro RM, Lanzi G, Masneri S, Barisani C, Piovani G, Savio G, Cattalini M, Galli J, Cereda C, Muzi-Falconi M, Orcesi S, Fazzi E, Giliani S.

Stem Cell Res. 2019 Sep 14;41:101580. doi: 10.1016/j.scr.2019.101580. [Epub ahead of print]

7.

Developmental Outcomes of Aicardi Goutières Syndrome.

Adang L, Gavazzi F, De Simone M, Fazzi E, Galli J, Koh J, Kramer-Golinkoff J, De Giorgis V, Orcesi S, Peer K, Ulrick N, Woidill S, Shults J, Vanderver A.

J Child Neurol. 2019 Sep 27:883073819870944. doi: 10.1177/0883073819870944. [Epub ahead of print]

PMID:
31559893
8.

Autism in Children With Cerebral and Peripheral Visual Impairment: Fact or Artifact?

Fazzi E, Micheletti S, Galli J, Rossi A, Gitti F, Molinaro A.

Semin Pediatr Neurol. 2019 Oct;31:57-67. doi: 10.1016/j.spen.2019.05.008. Epub 2019 May 11.

PMID:
31548026
9.

Cerebral Visual Impairment and Clinical Assessment: The European Perspective.

Ortibus E, Fazzi E, Dale N.

Semin Pediatr Neurol. 2019 Oct;31:15-24. doi: 10.1016/j.spen.2019.05.004. Epub 2019 May 11.

PMID:
31548019
10.

Neurodevelopmental problems of unaccompanied refugee and migrant children: a new challenge for pediatric neurologists.

Fazzi E, Korff C, Bernabe Gelot A, Leroy P, Rivier F, San Antonio-Arce V, Veggiotti P.

Dev Med Child Neurol. 2019 Nov;61(11):1348. doi: 10.1111/dmcn.14275. Epub 2019 Jun 10. No abstract available.

PMID:
31183863
11.

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review.

Garau J, Cavallera V, Valente M, Tonduti D, Sproviero D, Zucca S, Battaglia D, Battini R, Bertini E, Cappanera S, Chiapparini L, Crasà C, Crichiutti G, Dalla Giustina E, D'Arrigo S, De Giorgis V, De Simone M, Galli J, La Piana R, Messana T, Moroni I, Nardocci N, Panteghini C, Parazzini C, Pichiecchio A, Pini A, Ricci F, Saletti V, Salvatici E, Santorelli FM, Sartori S, Tinelli F, Uggetti C, Veneselli E, Zorzi G, Garavaglia B, Fazzi E, Orcesi S, Cereda C.

J Clin Med. 2019 May 26;8(5). pii: E750. doi: 10.3390/jcm8050750.

12.

Abstracts of the 47th Annual Meeting of the SENP (Société Européenne de Neurologie Pédiatrique)-Paris, March 22-23, 2019.

Fazzi E.

Neuropediatrics. 2019 Mar;50(S 01):e1. doi: 10.1055/s-0039-1685144. Epub 2019 Mar 26. No abstract available.

PMID:
30913573
13.

Cerebellar involvement in warts Hypogammaglobulinemia immunodeficiency myelokathexis patients: neuroimaging and clinical findings.

Galli J, Pinelli L, Micheletti S, Palumbo G, Notarangelo LD, Lougaris V, Dotta L, Fazzi E, Badolato R.

Orphanet J Rare Dis. 2019 Feb 28;14(1):61. doi: 10.1186/s13023-019-1030-8.

14.

Social Cognition in Down Syndrome: Face Tuning in Face-Like Non-Face Images.

Pavlova MA, Galli J, Pagani F, Micheletti S, Guerreschi M, Sokolov AN, Fallgatter AJ, Fazzi EM.

Front Psychol. 2018 Dec 18;9:2583. doi: 10.3389/fpsyg.2018.02583. eCollection 2018.

15.

Sine causa tetraparesis: A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysis.

Galli J, Gavazzi F, De Simone M, Giliani S, Garau J, Valente M, Vairo D, Cattalini M, Mortilla M, Andreoli L, Badolato R, Bianchi M, Carabellese N, Cereda C, Ferraro R, Facchetti F, Fredi M, Gualdi G, Lorenzi L, Meini A, Orcesi S, Tincani A, Zanola A, Rice G, Fazzi E; AGS study group.

Medicine (Baltimore). 2018 Dec;97(52):e13893. doi: 10.1097/MD.0000000000013893.

16.

Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome.

Nuovo S, Fuiano L, Micalizzi A, Battini R, Bertini E, Borgatti R, Caridi G, D'Arrigo S, Fazzi E, Fischetto R, Ghiggeri GM, Giordano L, Leuzzi V, Romaniello R, Signorini S, Stringini G, Zanni G, Romani M, Valente EM, Emma F.

Nephrol Dial Transplant. 2018 Nov 6. doi: 10.1093/ndt/gfy333. [Epub ahead of print]

PMID:
30403813
17.

Action Observation Treatment Improves Upper Limb Motor Functions in Children with Cerebral Palsy: A Combined Clinical and Brain Imaging Study.

Buccino G, Molinaro A, Ambrosi C, Arisi D, Mascaro L, Pinardi C, Rossi A, Gasparotti R, Fazzi E, Galli J.

Neural Plast. 2018 Jul 4;2018:4843985. doi: 10.1155/2018/4843985. eCollection 2018.

18.

Music reduces pain perception in healthy newborns: A comparison between different music tracks and recoded heartbeat.

Rossi A, Molinaro A, Savi E, Micheletti S, Galli J, Chirico G, Fazzi E.

Early Hum Dev. 2018 Sep;124:7-10. doi: 10.1016/j.earlhumdev.2018.07.006. Epub 2018 Aug 2.

PMID:
30077866
19.

Childhood Absence Epilepsy evolving to Eyelid Myoclonia with Absence Epilepsy.

Galli J, Micheletti S, Malerba L, Fazzi E, Giordano L.

Seizure. 2018 Oct;61:1-3. doi: 10.1016/j.seizure.2018.07.009. Epub 2018 Jul 18.

PMID:
30029089
20.

White matter changes associated with cognitive visual dysfunctions in children with cerebral palsy: A diffusion tensor imaging study.

Galli J, Ambrosi C, Micheletti S, Merabet LB, Pinardi C, Gasparotti R, Fazzi E.

J Neurosci Res. 2018 Nov;96(11):1766-1774. doi: 10.1002/jnr.24307. Epub 2018 Jun 12.

PMID:
30027677
21.

Human parechovirus type 6 and Guillain-Barré syndrome: a case report.

Pellegrinelli L, Gambara S, Micheli R, Binda S, Fazzi E, Pariani E.

J Neurovirol. 2018 Oct;24(5):656-659. doi: 10.1007/s13365-018-0656-y. Epub 2018 Jul 11.

PMID:
29995288
22.

Abstracts of the 46th Annual Meeting of the SENP (Société Européenne De Neurologie Pédiatrique)-Barcelona April 27th to 28th, 2018.

Fazzi E.

Neuropediatrics. 2018 Apr;49(S 01):e1. doi: 10.1055/s-0038-1651485. Epub 2018 Apr 27. No abstract available.

PMID:
29702714
23.

SLC19A3 related disorder: Treatment implication and clinical outcome of 2 new patients.

Tonduti D, Invernizzi F, Panteghini C, Pinelli L, Battaglia S, Fazzi E, Zorzi G, Moroni I, Garavaglia B, Chiapparini L, Nardocci N.

Eur J Paediatr Neurol. 2018 Mar;22(2):332-335. doi: 10.1016/j.ejpn.2017.11.012. Epub 2017 Dec 16.

PMID:
29287834
24.

Neurovisual Assessment in Children with Ataxia Telangiectasia.

Iodice A, Galli J, Molinaro A, Franzoni A, Micheli R, Pinelli L, Plebani A, Soresina A, Fazzi E.

Neuropediatrics. 2018 Feb;49(1):26-34. doi: 10.1055/s-0037-1607216. Epub 2017 Oct 9.

PMID:
28992644
25.

Neonatal Assessment Visual European Grid (NAVEG): Unveiling neurological risk.

Rossi A, Gnesi M, Montomoli C, Chirico G, Malerba L, Merabet LB; NAVEG Study Group, Fazzi E.

Infant Behav Dev. 2017 Nov;49:21-30. doi: 10.1016/j.infbeh.2017.06.002. Epub 2017 Jul 5. No abstract available.

PMID:
28688291
26.

Morning Glory Disc Anomaly Associated with Ipsilateral Optic Nerve and Chiasm Thickening: Three Cases and Review of the Literature.

Doneda C, Pinelli L, Scaramuzzi M, Galli J, Fazzi E, Parazzini C, Righini A, Nucci P.

Neuropediatrics. 2017 Dec;48(6):463-466. doi: 10.1055/s-0037-1603642. Epub 2017 Jun 9. Review. No abstract available.

PMID:
28599324
27.

Social cognition in autism: Face tuning.

Pavlova MA, Guerreschi M, Tagliavento L, Gitti F, Sokolov AN, Fallgatter AJ, Fazzi E.

Sci Rep. 2017 May 26;7(1):2734. doi: 10.1038/s41598-017-02790-1.

28.

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.

Rice GI, Kitabayashi N, Barth M, Briggs TA, Burton ACE, Carpanelli ML, Cerisola AM, Colson C, Dale RC, Danti FR, Darin N, De Azua B, De Giorgis V, De Goede CGL, Desguerre I, De Laet C, Eslahi A, Fahey MC, Fallon P, Fay A, Fazzi E, Gorman MP, Gowrinathan NR, Hully M, Kurian MA, Leboucq N, Lin JS, Lines MA, Mar SS, Maroofian R, Martí-Sanchez L, McCullagh G, Mojarrad M, Narayanan V, Orcesi S, Ortigoza-Escobar JD, Pérez-Dueñas B, Petit F, Ramsey KM, Rasmussen M, Rivier F, Rodríguez-Pombo P, Roubertie A, Stödberg TI, Toosi MB, Toutain A, Uettwiller F, Ulrick N, Vanderver A, Waldman A, Livingston JH, Crow YJ.

Neuropediatrics. 2017 Jun;48(3):166-184. doi: 10.1055/s-0037-1601449. Epub 2017 Apr 10.

29.

Long-term neurodevelopmental outcome of children born to prospectively followed pregnancies of women with systemic lupus erythematosus and/or antiphospholipid syndrome.

Nalli C, Iodice A, Andreoli L, Galli J, Lojacono A, Motta M, Fazzi E, Tincani A.

Lupus. 2017 Apr;26(5):552-558. doi: 10.1177/0961203317694960.

PMID:
28394231
30.

Family-centred care for children and young people with cerebral palsy: results from an Italian multicenter observational study.

Molinaro A, Fedrizzi E, Calza S, Pagliano E, Jessica G, Fazzi E; GIPCI Study Group.

Child Care Health Dev. 2017 Jul;43(4):588-597. doi: 10.1111/cch.12449. Epub 2017 Mar 9.

PMID:
28281289
31.

Neurodevelopmental profile in Angelman syndrome: more than low intelligence quotient.

Micheletti S, Palestra F, Martelli P, Accorsi P, Galli J, Giordano L, Trebeschi V, Fazzi E.

Ital J Pediatr. 2016 Oct 21;42(1):91.

32.

Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature.

Errichiello E, Novara F, Cremante A, Verri A, Galli J, Fazzi E, Bellotti D, Losa L, Cisternino M, Zuffardi O.

Mol Cytogenet. 2016 Feb 24;9(1):21. doi: 10.1186/s13039-016-0230-3. eCollection 2016.

33.

Exploring Autoimmunity in a Cohort of Children with Genetically Confirmed Aicardi-Goutières Syndrome.

Cattalini M, Galli J, Andreoli L, Olivieri I, Ariaudo G, Fredi M; IAGSA study group, Orcesi S, Tincani A, Fazzi E.

J Clin Immunol. 2016 Oct;36(7):693-9. doi: 10.1007/s10875-016-0325-y. Epub 2016 Aug 18.

PMID:
27539236
34.

Patient-reported outcomes measure for children born preterm: validation of the SOLE VLBWI Questionnaire, a new quality of life self-assessment tool.

Olivieri I, M Bova S, Fazzi E, Ricci D, Tinelli F, Montomoli C, Rezzani C, Balottin U, Orcesi S; SOLE VLBWI Questionnaire Study Group.

Dev Med Child Neurol. 2016 Sep;58(9):957-64. doi: 10.1111/dmcn.13122. Epub 2016 Apr 7.

35.

Recommendations for the rehabilitation of children with cerebral palsy.

Castelli E, Fazzi E; SIMFER-SINPIA Intersociety Commission.

Eur J Phys Rehabil Med. 2016 Oct;52(5):691-703. Epub 2015 Dec 1. Review.

36.

Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome.

La Piana R, Uggetti C, Roncarolo F, Vanderver A, Olivieri I, Tonduti D, Helman G, Balottin U, Fazzi E, Crow YJ, Livingston J, Orcesi S.

Neurology. 2016 Jan 5;86(1):28-35. doi: 10.1212/WNL.0000000000002228. Epub 2015 Nov 18.

37.

Typing TREX1 gene in patients with systemic lupus erythematosus.

Fredi M, Bianchi M, Andreoli L, Greco G, Olivieri I, Orcesi S, Fazzi E, Cereda C, Tincani A.

Reumatismo. 2015 Jun 30;67(1):1-7. doi: 10.4081/reumatismo.2015.782.

38.

Positive effect of erythrocyte-delivered dexamethasone in ataxia-telangiectasia.

Leuzzi V, Micheli R, D'Agnano D, Molinaro A, Venturi T, Plebani A, Soresina A, Marini M, Ferremi Leali P, Quinti I, Pietrogrande MC, Finocchi A, Fazzi E, Chessa L, Magnani M.

Neurol Neuroimmunol Neuroinflamm. 2015 Apr 9;2(3):e98. doi: 10.1212/NXI.0000000000000098. eCollection 2015 Jun.

39.

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Rodriguez D, Roubertie A, Salvatici E, Segers KA, Sinha GP, Soler D, Spiegel R, Stödberg TI, Straussberg R, Swoboda KJ, Suri M, Tacke U, Tan TY, te Water Naude J, Wee Teik K, Thomas MM, Till M, Tonduti D, Valente EM, Van Coster RN, van der Knaap MS, Vassallo G, Vijzelaar R, Vogt J, Wallace GB, Wassmer E, Webb HJ, Whitehouse WP, Whitney RN, Zaki MS, Zuberi SM, Livingston JH, Rozenberg F, Lebon P, Vanderver A, Orcesi S, Rice GI.

Am J Med Genet A. 2015 Feb;167A(2):296-312. doi: 10.1002/ajmg.a.36887. Epub 2015 Jan 16.

40.

Children born to SLE and APS mothers.

Nalli C, Iodice A, Andreoli L, Lojacono A, Motta M, Fazzi E, Tincani A.

Lupus. 2014 Oct;23(12):1246-8. doi: 10.1177/0961203314538109.

PMID:
25228716
41.

Prevention of Lymphocyte Neurotoxic Effects by microRNA Delivery.

Pulliero A, Marengo B, Fenoglio D, Parodi A, Cereda C, Domenicotti C, Orcesi S, Galli J, Olivieri I, Filaci G, Balottin U, Fazzi E, Izzotti A.

Microrna. 2014;2(3):187-93.

PMID:
25069442
42.

The effects of lupus and antiphospholipid antibody syndrome on foetal outcomes.

Nalli C, Iodice A, Andreoli L, Lojacono A, Motta M, Fazzi E, Tincani A.

Lupus. 2014 May;23(6):507-17. doi: 10.1177/0961203313501402. Review.

PMID:
24763535
43.

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.

Rice GI, Del Toro Duany Y, Jenkinson EM, Forte GM, Anderson BH, Ariaudo G, Bader-Meunier B, Baildam EM, Battini R, Beresford MW, Casarano M, Chouchane M, Cimaz R, Collins AE, Cordeiro NJ, Dale RC, Davidson JE, De Waele L, Desguerre I, Faivre L, Fazzi E, Isidor B, Lagae L, Latchman AR, Lebon P, Li C, Livingston JH, Lourenço CM, Mancardi MM, Masurel-Paulet A, McInnes IB, Menezes MP, Mignot C, O'Sullivan J, Orcesi S, Picco PP, Riva E, Robinson RA, Rodriguez D, Salvatici E, Scott C, Szybowska M, Tolmie JL, Vanderver A, Vanhulle C, Vieira JP, Webb K, Whitney RN, Williams SG, Wolfe LA, Zuberi SM, Hur S, Crow YJ.

Nat Genet. 2014 May;46(5):503-509. doi: 10.1038/ng.2933. Epub 2014 Mar 30.

44.

Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial.

Chessa L, Leuzzi V, Plebani A, Soresina A, Micheli R, D'Agnano D, Venturi T, Molinaro A, Fazzi E, Marini M, Ferremi Leali P, Quinti I, Cavaliere FM, Girelli G, Pietrogrande MC, Finocchi A, Tabolli S, Abeni D, Magnani M.

Orphanet J Rare Dis. 2014 Jan 9;9:5. doi: 10.1186/1750-1172-9-5.

45.

Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6).

La Piana R, Uggetti C, Olivieri I, Tonduti D, Balottin U, Fazzi E, Orcesi S.

Am J Med Genet A. 2014 Mar;164A(3):815-9. doi: 10.1002/ajmg.a.36360. Epub 2013 Dec 20.

PMID:
24376015
46.

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Rice GI, Forte GM, Szynkiewicz M, Chase DS, Aeby A, Abdel-Hamid MS, Ackroyd S, Allcock R, Bailey KM, Balottin U, Barnerias C, Bernard G, Bodemer C, Botella MP, Cereda C, Chandler KE, Dabydeen L, Dale RC, De Laet C, De Goede CG, Del Toro M, Effat L, Enamorado NN, Fazzi E, Gener B, Haldre M, Lin JP, Livingston JH, Lourenco CM, Marques W Jr, Oades P, Peterson P, Rasmussen M, Roubertie A, Schmidt JL, Shalev SA, Simon R, Spiegel R, Swoboda KJ, Temtamy SA, Vassallo G, Vilain CN, Vogt J, Wermenbol V, Whitehouse WP, Soler D, Olivieri I, Orcesi S, Aglan MS, Zaki MS, Abdel-Salam GM, Vanderver A, Kisand K, Rozenberg F, Lebon P, Crow YJ.

Lancet Neurol. 2013 Dec;12(12):1159-69. doi: 10.1016/S1474-4422(13)70258-8. Epub 2013 Oct 30.

47.

Dysregulation of the immune system in Aicardi-Goutières syndrome: another example in a TREX1-mutated patient.

Olivieri I, Cattalini M, Tonduti D, La Piana R, Uggetti C, Galli J, Meini A, Tincani A, Moratto D, Fazzi E, Balottin U, Orcesi S.

Lupus. 2013 Sep;22(10):1064-9. doi: 10.1177/0961203313498800. Epub 2013 Aug 5.

PMID:
23918923
48.

[Treatment of eating disorders during hospitalization: presentation of a hospital intensive care program in pediatric age].

D'Argenio L, Zaccagnino M, Donati C, Perini A, Fazzi E.

Minerva Pediatr. 2013 Apr;65(2):199-206. Italian.

PMID:
23612266
49.

Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.

Rice GI, Reijns MA, Coffin SR, Forte GM, Anderson BH, Szynkiewicz M, Gornall H, Gent D, Leitch A, Botella MP, Fazzi E, Gener B, Lagae L, Olivieri I, Orcesi S, Swoboda KJ, Perrino FW, Jackson AP, Crow YJ.

Hum Mutat. 2013 Aug;34(8):1066-70. doi: 10.1002/humu.22336. Epub 2013 May 13.

50.

Body experiences, emotional competence, and psychosocial functioning in juvenile idiopathic arthritis.

Bomba M, Meini A, Molinaro A, Cattalini M, Oggiano S, Fazzi E, Neri F, Plebani A, Nacinovich R.

Rheumatol Int. 2013 Aug;33(8):2045-52. doi: 10.1007/s00296-013-2685-4. Epub 2013 Feb 8.

PMID:
23392772

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