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Items: 1 to 50 of 142

1.

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
2.

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
3.

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
4.

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. No abstract available.

PMID:
28599324
5.

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.

6.

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.

PMID:
28561207
7.

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
8.

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. No abstract available.

PMID:
28281289
9.

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.

10.

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.

11.

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
12.

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.

13.

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.

14.

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.

15.

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.

16.

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.

17.

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.

18.

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
19.

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
20.

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
21.

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.

22.

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.

23.

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
24.

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.

25.

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
26.

[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
27.

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.

28.

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
29.

Inhibition of the de-myelinating properties of Aicardi-Goutières syndrome lymphocytes by cathepsin D silencing.

Pulliero A, Marengo B, Longobardi M, Fazzi E, Orcesi S, Olivieri I, Cereda C, Domenicotti C, Balottin U, Izzotti A.

Biochem Biophys Res Commun. 2013 Jan 18;430(3):957-62. doi: 10.1016/j.bbrc.2012.11.131. Epub 2012 Dec 19.

PMID:
23261460
30.

Family history of autoimmune disease in patients with Aicardi-Goutières syndrome.

Schmidt JL, Olivieri I, Vento JM, Fazzi E, Gordish-Dressman H, Orcesi S, Vanderver A.

Clin Dev Immunol. 2012;2012:206730. doi: 10.1155/2012/206730. Epub 2012 Nov 11.

31.

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.

Rice GI, Kasher PR, Forte GM, Mannion NM, Greenwood SM, Szynkiewicz M, Dickerson JE, Bhaskar SS, Zampini M, Briggs TA, Jenkinson EM, Bacino CA, Battini R, Bertini E, Brogan PA, Brueton LA, Carpanelli M, De Laet C, de Lonlay P, del Toro M, Desguerre I, Fazzi E, Garcia-Cazorla A, Heiberg A, Kawaguchi M, Kumar R, Lin JP, Lourenco CM, Male AM, Marques W Jr, Mignot C, Olivieri I, Orcesi S, Prabhakar P, Rasmussen M, Robinson RA, Rozenberg F, Schmidt JL, Steindl K, Tan TY, van der Merwe WG, Vanderver A, Vassallo G, Wakeling EL, Wassmer E, Whittaker E, Livingston JH, Lebon P, Suzuki T, McLaughlin PJ, Keegan LP, O'Connell MA, Lovell SC, Crow YJ.

Nat Genet. 2012 Nov;44(11):1243-8. doi: 10.1038/ng.2414. Epub 2012 Sep 23.

32.

[Classification of the instrument of assessment of children between 0 and 3 years of age].

Zaccagnino M, Mattei P, Merlini A, Rossi A, Fazzi E.

Minerva Pediatr. 2012 Oct;64(5):521-40. Review. Italian.

PMID:
22992534
33.

Aicardi-Goutieres syndrome, a rare neurological disease in children: a new autoimmune disorder?

Fazzi E, Cattalini M, Orcesi S, Tincani A, Andreoli L, Balottin U, De Simone M, Fredi M, Facchetti F, Galli J, Giliani S, Izzotti A, Meini A, Olivieri I, Plebani A.

Autoimmun Rev. 2013 Feb;12(4):506-9. doi: 10.1016/j.autrev.2012.08.012. Epub 2012 Aug 24. Review.

PMID:
22940555
34.

Improving upper limb motor functions through action observation treatment: a pilot study in children with cerebral palsy.

Buccino G, Arisi D, Gough P, Aprile D, Ferri C, Serotti L, Tiberti A, Fazzi E.

Dev Med Child Neurol. 2012 Sep;54(9):822-8. doi: 10.1111/j.1469-8749.2012.04334.x. Epub 2012 Jul 6.

35.

Neuro-ophthalmological disorders in cerebral palsy: ophthalmological, oculomotor, and visual aspects.

Fazzi E, Signorini SG, LA Piana R, Bertone C, Misefari W, Galli J, Balottin U, Bianchi PE.

Dev Med Child Neurol. 2012 Aug;54(8):730-6. doi: 10.1111/j.1469-8749.2012.04324.x. Epub 2012 Jun 19.

36.

Unimanual and bimanual intensive training in children with hemiplegic cerebral palsy and persistence in time of hand function improvement: 6-month follow-up results of a multisite clinical trial.

Fedrizzi E, Rosa-Rizzotto M, Turconi AC, Pagliano E, Fazzi E, Pozza LV, Facchin P; GIPCI Study Group.

J Child Neurol. 2013 Feb;28(2):161-75. doi: 10.1177/0883073812443004. Epub 2012 May 10.

PMID:
22580904
37.

Inhibition of neuroblastoma cell growth by TREX1-mutated human lymphocytes.

Pulliero A, Marengo B, Domenicotti C, Longobardi MG, Fazzi E, Orcesi S, Bianchi M, Balottin U, Izzotti A.

Oncol Rep. 2012 May;27(5):1689-94. doi: 10.3892/or.2012.1696. Epub 2012 Feb 22.

PMID:
22367235
38.

Outcome of extremely low birth weight infants: what's new in the third millennium? Neuropsychological profiles at four years.

Olivieri I, Bova SM, Urgesi C, Ariaudo G, Perotto E, Fazzi E, Stronati M, Fabbro F, Balottin U, Orcesi S.

Early Hum Dev. 2012 Apr;88(4):241-50. doi: 10.1016/j.earlhumdev.2011.08.012. Epub 2011 Sep 29.

PMID:
21962769
39.

Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome.

Izzotti A, Longobardi M, Cartiglia C, Anzuini F, Arrigo P, Fazzi E, Orcesi S, Piana RL, Pulliero A.

J Child Neurol. 2012 Jan;27(1):51-60. doi: 10.1177/0883073811413582. Epub 2011 Aug 23.

PMID:
21862834
40.

The Aicardi-Goutières syndrome. Molecular and clinical features of RNAse deficiency and microRNA overload.

Pulliero A, Fazzi E, Cartiglia C, Orcesi S, Balottin U, Uggetti C, La Piana R, Olivieri I, Galli J, Izzotti A.

Mutat Res. 2011 Dec 1;717(1-2):99-108. doi: 10.1016/j.mrfmmm.2011.03.018. Epub 2011 Apr 15.

PMID:
21524657
41.

Reach on sound: a key to object permanence in visually impaired children.

Fazzi E, Signorini SG, Bomba M, Luparia A, Lanners J, Balottin U.

Early Hum Dev. 2011 Apr;87(4):289-96. doi: 10.1016/j.earlhumdev.2011.01.032. Epub 2011 Feb 12.

PMID:
21316874
42.

Molecular and clinical characterization of albinism in a large cohort of Italian patients.

Gargiulo A, Testa F, Rossi S, Di Iorio V, Fecarotta S, de Berardinis T, Iovine A, Magli A, Signorini S, Fazzi E, Galantuomo MS, Fossarello M, Montefusco S, Ciccodicola A, Neri A, Macaluso C, Simonelli F, Surace EM.

Invest Ophthalmol Vis Sci. 2011 Mar 14;52(3):1281-9. doi: 10.1167/iovs.10-6091. Print 2011 Mar.

43.

Neuropsychiatric aid in children born to patients with rheumatic diseases.

Bomba M, Galli J, Nacinovich R, Ceribelli A, Motta M, Lojacono A, Fazzi E, Tincani A.

Clin Exp Rheumatol. 2010 Sep-Oct;28(5):767-73. Epub 2010 Oct 22. Review.

PMID:
20822715
44.

New case of 4H syndrome and a review of the literature.

Orcesi S, Tonduti D, Uggetti C, Larizza D, Fazzi E, Balottin U.

Pediatr Neurol. 2010 May;42(5):359-64. doi: 10.1016/j.pediatrneurol.2010.01.015. Review.

PMID:
20399393
45.

Multisite trial on efficacy of constraint-induced movement therapy in children with hemiplegia: study design and methodology.

Facchin P, Rosa-Rizzotto M, Turconi AC, Pagliano E, Fazzi E, Stortini M, Fedrizzi E; GIPCI Study Group.

Am J Phys Med Rehabil. 2009 Mar;88(3):216-30. doi: 10.1097/PHM.0b013e3181951382.

PMID:
19847131
46.

Expanding CEP290 mutational spectrum in ciliopathies.

Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM; International JSRD Study Group, Zankl A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Petkovic D, Abdel-Salam GM, Abdel-Aleem A, Zaki MS, Marti I, Quijano-Roy S, Sigaudy S, de Lonlay P, Romano S, Touraine R, Koenig M, Lagier-Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Kitsiou Tzeli S, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D, Michelson M, Ben-Zeev B, Fischetto R, Benedicenti F, Stanzial F, Borgatti R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Bigoni S, Ferlini A, Donati MA, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Pessagno A, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Castorina P, Lalatta F, Marra G, Riva D, Scelsa B, Spaccini L, Uziel G, Del Giudice E, Laverda AM, Ludwig K, Permunian A, Suppiej A, Signorini S, Uggetti C, Battini R, Di Giacomo M, Cilio MR, Di Sabato ML, Leuzzi V, Parisi P, Pollazzon M, Silengo M, De Vescovi R, Greco D, Romano C, Cazzagon M, Simonati A, Al-Tawari AA, Bastaki L, Mégarbané A, Sabolic Avramovska V, de Jong MM, Stromme P, Koul R, Rajab A, Azam M, Barbot C, Martorell Sampol L, Rodriguez B, Pascual-Castroviejo I, Teber S, Anlar B, Comu S, Karaca E, Kayserili H, Yüksel A, Akcakus M, Al Gazali L, Sztriha L, Nicholl D, Woods CG, Bennett C, Hurst J, Sheridan E, Barnicoat A, Hennekam R, Lees M, Blair E, Bernes S, Sanchez H, Clark AE, DeMarco E, Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Dobyns WB, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Chung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A, Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Swoboda KJ, Viskochil D.

Am J Med Genet A. 2009 Oct;149A(10):2173-80. doi: 10.1002/ajmg.a.33025.

47.

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.

Bielas SL, Silhavy JL, Brancati F, Kisseleva MV, Al-Gazali L, Sztriha L, Bayoumi RA, Zaki MS, Abdel-Aleem A, Rosti RO, Kayserili H, Swistun D, Scott LC, Bertini E, Boltshauser E, Fazzi E, Travaglini L, Field SJ, Gayral S, Jacoby M, Schurmans S, Dallapiccola B, Majerus PW, Valente EM, Gleeson JG.

Nat Genet. 2009 Sep;41(9):1032-6. doi: 10.1038/ng.423. Epub 2009 Aug 9.

48.

Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up.

Uggetti C, La Piana R, Orcesi S, Egitto MG, Crow YJ, Fazzi E.

AJNR Am J Neuroradiol. 2009 Nov;30(10):1971-6. doi: 10.3174/ajnr.A1694. Epub 2009 Jul 23.

49.

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.

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