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Items: 1 to 50 of 355

1.

The TOSCA Registry for Tuberous Sclerosis-Lessons Learnt for Future Registry Development in Rare and Complex Diseases.

Marques R, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, Beaure d'Augères G, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jansen AC, Jozwiak S, Kingswood JC, Lawson JA, Macaya A, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Nabbout R.

Front Neurol. 2019 Nov 13;10:1182. doi: 10.3389/fneur.2019.01182. eCollection 2019.

2.

Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study.

Graziola F, Garone G, Stregapede F, Bosco L, Vigevano F, Curatolo P, Bertini E, Travaglini L, Capuano A.

Front Genet. 2019 Oct 29;10:1026. doi: 10.3389/fgene.2019.01026. eCollection 2019.

3.

Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry.

Marques R, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, Beaure d'Augères G, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Kingswood JC, Jansen AC.

Front Neurol. 2019 Oct 25;10:1144. doi: 10.3389/fneur.2019.01144. eCollection 2019.

4.

Use of nutritional supplements based on melatonin, tryptophan and vitamin B6 in children with primary chronic headache, with or without sleep disorders: a pilot study.

Bravaccio C, Terrone G, Rizzo R, Gulisano M, Tosi M, Curatolo P, Emberti Gialloreti L.

Minerva Pediatr. 2019 Oct 11. doi: 10.23736/S0026-4946.19.05533-6. [Epub ahead of print]

PMID:
31621274
5.

Electrochemotherapy for advanced cutaneous angiosarcoma: A European register-based cohort study from the International Network for Sharing Practices of electrochemotherapy (InspECT).

Campana LG, Kis E, Bottyán K, Orlando A, de Terlizzi F, Mitsala G, Careri R, Curatolo P, Snoj M, Sersa G, Valpione S, Quaglino P, Mowatt D, Brizio M, Schepler H.

Int J Surg. 2019 Oct 13;72:34-42. doi: 10.1016/j.ijsu.2019.10.013. [Epub ahead of print]

PMID:
31618680
6.

Children With Autism Spectrum Disorder and Their Mothers Share Abnormal Expression of Selected Endogenous Retroviruses Families and Cytokines.

Balestrieri E, Cipriani C, Matteucci C, Benvenuto A, Coniglio A, Argaw-Denboba A, Toschi N, Bucci I, Miele MT, Grelli S, Curatolo P, Sinibaldi-Vallebona P.

Front Immunol. 2019 Sep 26;10:2244. doi: 10.3389/fimmu.2019.02244. eCollection 2019.

7.

Effects of oral administration of common antioxidant supplements on the energy metabolism of red blood cells. Attenuation of oxidative stress-induced changes in Rett syndrome erythrocytes by CoQ10.

Di Pierro D, Ciaccio C, Sbardella D, Tundo GR, Bernardini R, Curatolo P, Galasso C, Pironi V, Coletta M, Marini S.

Mol Cell Biochem. 2019 Oct 8. doi: 10.1007/s11010-019-03633-5. [Epub ahead of print]

PMID:
31595423
8.

Tuberous sclerosis-associated epilepsy and intellectual disability: what role does the mammalian target of rapamycin pathway play?

Curatolo P.

Dev Med Child Neurol. 2019 Oct 7. doi: 10.1111/dmcn.14371. [Epub ahead of print] No abstract available.

PMID:
31591705
9.

Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study.

Jansen AC, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, D'Amato L, Beaure d'Augères G, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Kingswood JC.

Front Neurol. 2019 Aug 2;10:821. doi: 10.3389/fneur.2019.00821. eCollection 2019.

10.

Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex.

Jansen AC, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, d'Augères GB, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Kingswood JC.

Front Neurol. 2019 Jul 3;10:705. doi: 10.3389/fneur.2019.00705. eCollection 2019.

11.

Comorbidity between ADHD and anxiety disorders across the lifespan.

D'Agati E, Curatolo P, Mazzone L.

Int J Psychiatry Clin Pract. 2019 Jun 24:1-7. doi: 10.1080/13651501.2019.1628277. [Epub ahead of print]

PMID:
31232613
12.

Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study.

Moavero R, Benvenuto A, Emberti Gialloreti L, Siracusano M, Kotulska K, Weschke B, Riney K, Jansen FE, Feucht M, Krsek P, Nabbout R, Jansen AC, Wojdan K, Borkowska J, Sadowski K, Hertzberg C, Hulshof H, Samueli S, Benova B, Aronica E, Kwiatkowski DJ, Lagae L, Jozwiak S, Curatolo P.

J Clin Med. 2019 Jun 3;8(6). pii: E788. doi: 10.3390/jcm8060788.

13.

Autistic symptoms in Greig cephalopolysyndactyly syndrome: a family case report.

Siracusano M, Riccioni A, Baratta A, Baldi M, Curatolo P, Mazzone L.

J Med Case Rep. 2019 Apr 23;13(1):100. doi: 10.1186/s13256-019-2043-6.

14.

Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study.

Nabbout R, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D Amato L, d'Augères GB, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen A, Kingswood JC; TOSCA Consortium and TOSCA Investigators.

Epilepsia Open. 2018 Dec 21;4(1):73-84. doi: 10.1002/epi4.12286. eCollection 2019 Mar.

15.

Autistic Symptoms in Schizophrenia Spectrum Disorders: A Systematic Review and Meta-Analysis.

De Crescenzo F, Postorino V, Siracusano M, Riccioni A, Armando M, Curatolo P, Mazzone L.

Front Psychiatry. 2019 Feb 21;10:78. doi: 10.3389/fpsyt.2019.00078. eCollection 2019.

16.

Risk and Protective Environmental Factors Associated with Autism Spectrum Disorder: Evidence-Based Principles and Recommendations.

Emberti Gialloreti L, Mazzone L, Benvenuto A, Fasano A, Alcon AG, Kraneveld A, Moavero R, Raz R, Riccio MP, Siracusano M, Zachor DA, Marini M, Curatolo P.

J Clin Med. 2019 Feb 8;8(2). pii: E217. doi: 10.3390/jcm8020217. Review.

17.

Disruption of mTOR and MAPK pathways correlates with severity in idiopathic autism.

Rosina E, Battan B, Siracusano M, Di Criscio L, Hollis F, Pacini L, Curatolo P, Bagni C.

Transl Psychiatry. 2019 Jan 31;9(1):50. doi: 10.1038/s41398-018-0335-z.

18.

A novel KCTD17 mutation is associated with childhood early-onset hyperkinetic movement disorder.

Graziola F, Stregapede F, Travaglini L, Garone G, Verardo M, Bosco L, Pro S, Bertini E, Curatolo P, Vigevano F, Capuano A.

Parkinsonism Relat Disord. 2019 Apr;61:4-6. doi: 10.1016/j.parkreldis.2018.12.001. Epub 2018 Dec 7. No abstract available.

PMID:
30579817
19.

Everolimus for treatment-refractory seizures in TSC: Extension of a randomized controlled trial.

Franz DN, Lawson JA, Yapici Z, Ikeda H, Polster T, Nabbout R, Curatolo P, de Vries PJ, Dlugos DJ, Voi M, Fan J, Vaury A, Pelov D, French JA.

Neurol Clin Pract. 2018 Oct;8(5):412-420. doi: 10.1212/CPJ.0000000000000514.

20.

Scientific Evidence for the Evaluation of Neurological Soft Signs as Atypical Neurodevelopment Markers in Childhood Neuropsychiatric Disorders.

D'Agati E, Pitzianti M, Curatolo P, Pasini A.

J Psychiatr Pract. 2018 Jul;24(4):230-238. doi: 10.1097/PRA.0000000000000312. Review.

PMID:
30427806
21.

The pharmacological management of Lennox-Gastaut syndrome and critical literature review.

Verrotti A, Striano P, Iapadre G, Zagaroli L, Bonanni P, Coppola G, Elia M, Mecarelli O, Franzoni E, Liso P, Vigevano F, Curatolo P.

Seizure. 2018 Dec;63:17-25. doi: 10.1016/j.seizure.2018.10.016. Epub 2018 Oct 26. Review.

22.

The Decrease in Human Endogenous Retrovirus-H Activity Runs in Parallel with Improvement in ADHD Symptoms in Patients Undergoing Methylphenidate Therapy.

Cipriani C, Pitzianti MB, Matteucci C, D'Agati E, Miele MT, Rapaccini V, Grelli S, Curatolo P, Sinibaldi-Vallebona P, Pasini A, Balestrieri E.

Int J Mol Sci. 2018 Oct 23;19(11). pii: E3286. doi: 10.3390/ijms19113286.

23.

Current concepts on epilepsy management in tuberous sclerosis complex.

Canevini MP, Kotulska-Jozwiak K, Curatolo P, La Briola F, Peron A, Słowińska M, Strzelecka J, Vignoli A, Jóźwiak S.

Am J Med Genet C Semin Med Genet. 2018 Sep;178(3):299-308. doi: 10.1002/ajmg.c.31652. Epub 2018 Sep 26. Review.

PMID:
30255982
24.

Measuring Health-Related Quality of Life in Tuberous Sclerosis Complex - Psychometric Evaluation of Three Instruments in Individuals With Refractory Epilepsy.

de Vries PJ, Franz DN, Curatolo P, Nabbout R, Neary M, Herbst F, Sully K, Brohan E, Bennett B, Lawson JA.

Front Pharmacol. 2018 Aug 30;9:964. doi: 10.3389/fphar.2018.00964. eCollection 2018.

25.

TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study.

de Vries PJ, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, d'Augères GB, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Kingswood JC, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC; TOSCA Consortium and TOSCA Investigators.

Orphanet J Rare Dis. 2018 Sep 10;13(1):157. doi: 10.1186/s13023-018-0901-8.

26.

Angiomyolipoma rebound tumor growth after discontinuation of everolimus in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis.

Bissler JJ, Nonomura N, Budde K, Zonnenberg BA, Fischereder M, Voi M, Louveau AL, Herbst F, Bebin EM, Curatolo P, Zonta A, Belousova E.

PLoS One. 2018 Sep 7;13(9):e0201005. doi: 10.1371/journal.pone.0201005. eCollection 2018.

27.

Autism Spectrum Disorder: Why Do We Know So Little?

Emberti Gialloreti L, Curatolo P.

Front Neurol. 2018 Aug 17;9:670. doi: 10.3389/fneur.2018.00670. eCollection 2018. No abstract available.

28.

Safety and tolerability profile of new antiepileptic drug treatment in children with epilepsy.

Moavero R, Pisani LR, Pisani F, Curatolo P.

Expert Opin Drug Saf. 2018 Oct;17(10):1015-1028. doi: 10.1080/14740338.2018.1518427. Epub 2018 Sep 17. Review.

PMID:
30169997
29.

Adjunctive everolimus for children and adolescents with treatment-refractory seizures associated with tuberous sclerosis complex: post-hoc analysis of the phase 3 EXIST-3 trial.

Curatolo P, Franz DN, Lawson JA, Yapici Z, Ikeda H, Polster T, Nabbout R, de Vries PJ, Dlugos DJ, Fan J, Ridolfi A, Pelov D, Voi M, French JA.

Lancet Child Adolesc Health. 2018 Jul;2(7):495-504. doi: 10.1016/S2352-4642(18)30099-3. Epub 2018 May 24.

PMID:
30169322
30.

A clinical update on tuberous sclerosis complex-associated neuropsychiatric disorders (TAND).

de Vries PJ, Wilde L, de Vries MC, Moavero R, Pearson DA, Curatolo P.

Am J Med Genet C Semin Med Genet. 2018 Sep;178(3):309-320. doi: 10.1002/ajmg.c.31637. Epub 2018 Aug 16. Review.

31.

Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experience.

Krueger DA, Capal JK, Curatolo P, Devinsky O, Ess K, Tzadok M, Koenig MK, Narayanan V, Ramos F, Jozwiak S, de Vries P, Jansen AC, Wong M, Mowat D, Lawson J, Bruns S, Franz DN; TSCure Research Group.

Eur J Paediatr Neurol. 2018 Nov;22(6):1066-1073. doi: 10.1016/j.ejpn.2018.06.007. Epub 2018 Jul 4.

PMID:
30005812
32.

Management of epilepsy associated with tuberous sclerosis complex: Updated clinical recommendations.

Curatolo P, Nabbout R, Lagae L, Aronica E, Ferreira JC, Feucht M, Hertzberg C, Jansen AC, Jansen F, Kotulska K, Moavero R, O'Callaghan F, Papavasiliou A, Tzadok M, Jóźwiak S.

Eur J Paediatr Neurol. 2018 Sep;22(5):738-748. doi: 10.1016/j.ejpn.2018.05.006. Epub 2018 May 24. Review.

PMID:
29880258
33.

The Relationship between Sleep Problems, Neurobiological Alterations, Core Symptoms of Autism Spectrum Disorder, and Psychiatric Comorbidities.

Mazzone L, Postorino V, Siracusano M, Riccioni A, Curatolo P.

J Clin Med. 2018 May 3;7(5). pii: E102. doi: 10.3390/jcm7050102. Review.

34.

Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness.

Kingswood JC, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D' Amato L, d'Augères GB, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC.

Nephrol Dial Transplant. 2019 Mar 1;34(3):502-508. doi: 10.1093/ndt/gfy063.

35.

Electrochemotherapy for Breast Cancer-Results From the INSPECT Database.

Matthiessen LW, Keshtgar M, Curatolo P, Kunte C, Grischke EM, Odili J, Muir T, Mowatt D, Clover JP, Liew SH, Dahlstroem K, Newby J, Letulé V, Stauss E, Humphreys A, Banerjee S, Klein A, Rotunno R, de Terlizzi F, Gehl J.

Clin Breast Cancer. 2018 Oct;18(5):e909-e917. doi: 10.1016/j.clbc.2018.03.007. Epub 2018 Mar 14.

PMID:
29673795
36.

Updated standard operating procedures for electrochemotherapy of cutaneous tumours and skin metastases.

Gehl J, Sersa G, Matthiessen LW, Muir T, Soden D, Occhini A, Quaglino P, Curatolo P, Campana LG, Kunte C, Clover AJP, Bertino G, Farricha V, Odili J, Dahlstrom K, Benazzo M, Mir LM.

Acta Oncol. 2018 Jul;57(7):874-882. doi: 10.1080/0284186X.2018.1454602. Epub 2018 Mar 25. Review.

37.

Everolimus for Retinal Astrocytic Hamartomas in Tuberous Sclerosis Complex.

Marciano S, Mutolo MG, Siracusano M, Moavero R, Curatolo P, Emberti Gialloreti L.

Ophthalmol Retina. 2018 Mar;2(3):257-260. doi: 10.1016/j.oret.2017.08.005. Epub 2017 Oct 12. Review. No abstract available.

PMID:
31047596
38.

Using a multi-method approach based on soil radon deficit, resistivity, and induced polarization measurements to monitor non-aqueous phase liquid contamination in two study areas in Italy and India.

Castelluccio M, Agrahari S, De Simone G, Pompilj F, Lucchetti C, Sengupta D, Galli G, Friello P, Curatolo P, Giorgi R, Tuccimei P.

Environ Sci Pollut Res Int. 2018 May;25(13):12515-12527. doi: 10.1007/s11356-018-1429-0. Epub 2018 Feb 20.

PMID:
29464601
39.

Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations.

Schirinzi T, Graziola F, Nicita F, Travaglini L, Stregapede F, Valeriani M, Curatolo P, Bertini E, Vigevano F, Capuano A.

Cerebellum. 2018 Aug;17(4):489-493. doi: 10.1007/s12311-018-0920-y.

PMID:
29397530
40.

ATP1A3-related epileptic encephalopathy responding to ketogenic diet.

Schirinzi T, Graziola F, Cusmai R, Fusco L, Nicita F, Elia M, Travaglini L, Bertini E, Curatolo P, Vigevano F, Capuano A.

Brain Dev. 2018 May;40(5):433-438. doi: 10.1016/j.braindev.2018.01.002. Epub 2018 Feb 1.

PMID:
29395663
41.

mTOR dysregulation and tuberous sclerosis-related epilepsy.

Curatolo P, Moavero R, van Scheppingen J, Aronica E.

Expert Rev Neurother. 2018 Mar;18(3):185-201. doi: 10.1080/14737175.2018.1428562. Epub 2018 Jan 27. Review.

PMID:
29338461
42.

Electrochemotherapy of unresectable cutaneous tumours with reduced dosages of intravenous bleomycin: analysis of 57 patients from the International Network for Sharing Practices of Electrochemotherapy registry.

Rotunno R, Campana LG, Quaglino P, de Terlizzi F, Kunte C, Odili J, Gehl J, Ribero S, Liew SH, Marconato R, Brizio M, Curatolo P.

J Eur Acad Dermatol Venereol. 2018 Jul;32(7):1147-1154. doi: 10.1111/jdv.14708. Epub 2017 Dec 22.

PMID:
29178483
43.

The Challenge of Pharmacotherapy in Children and Adolescents with Epilepsy-ADHD Comorbidity.

Verrotti A, Moavero R, Panzarino G, Di Paolantonio C, Rizzo R, Curatolo P.

Clin Drug Investig. 2018 Jan;38(1):1-8. doi: 10.1007/s40261-017-0585-1. Review.

PMID:
29071470
44.

Retention of Mitochondria in Mature Human Red Blood Cells as the Result of Autophagy Impairment in Rett Syndrome.

Sbardella D, Tundo GR, Campagnolo L, Valacchi G, Orlandi A, Curatolo P, Borsellino G, D'Esposito M, Ciaccio C, Cesare SD, Pierro DD, Galasso C, Santarone ME, Hayek J, Coletta M, Marini S.

Sci Rep. 2017 Sep 26;7(1):12297. doi: 10.1038/s41598-017-12069-0.

45.

Potential for diagnosis versus therapy monitoring of attention deficit hyperactivity disorder: a new epigenetic biomarker interacting with both genotype and auto-immunity.

Adriani W, Romano E, Pucci M, Pascale E, Cerniglia L, Cimino S, Tambelli R, Curatolo P, Granstrem O, Maccarrone M, Laviola G, D'Addario C.

Eur Child Adolesc Psychiatry. 2018 Feb;27(2):241-252. doi: 10.1007/s00787-017-1040-9. Epub 2017 Aug 18.

PMID:
28822049
46.

Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment.

Mills JD, Iyer AM, van Scheppingen J, Bongaarts A, Anink JJ, Janssen B, Zimmer TS, Spliet WG, van Rijen PC, Jansen FE, Feucht M, Hainfellner JA, Krsek P, Zamecnik J, Kotulska K, Jozwiak S, Jansen A, Lagae L, Curatolo P, Kwiatkowski DJ, Pasterkamp RJ, Senthilkumar K, von Oerthel L, Hoekman MF, Gorter JA, Crino PB, Mühlebner A, Scicluna BP, Aronica E.

Sci Rep. 2017 Aug 14;7(1):8089. doi: 10.1038/s41598-017-06145-8.

47.

Neurological soft signs, but not theory of mind and emotion recognition deficit distinguished children with ADHD from healthy control.

Pitzianti M, Grelloni C, Casarelli L, D'Agati E, Spiridigliozzi S, Curatolo P, Pasini A.

Psychiatry Res. 2017 Oct;256:96-101. doi: 10.1016/j.psychres.2017.06.029. Epub 2017 Jun 12.

PMID:
28628794
48.

Current role of perampanel in pediatric epilepsy.

De Liso P, Moavero R, Coppola G, Curatolo P, Cusmai R, De Sarro G, Franzoni E, Vigevano F, Verrotti A.

Ital J Pediatr. 2017 Jun 2;43(1):51. doi: 10.1186/s13052-017-0368-6. Review.

49.

Soil radon survey to assess NAPL contamination from an ancient spill. Do kerosene vapors affect radon partition ?

De Simone G, Lucchetti C, Pompilj F, Galli G, Tuccimei P, Curatolo P, Giorgi R.

J Environ Radioact. 2017 May;171:138-147. doi: 10.1016/j.jenvrad.2017.02.014. Epub 2017 Feb 27.

PMID:
28249206
50.

Cognitive and behavioral effects of new antiepileptic drugs in pediatric epilepsy.

Moavero R, Santarone ME, Galasso C, Curatolo P.

Brain Dev. 2017 Jun;39(6):464-469. doi: 10.1016/j.braindev.2017.01.006. Epub 2017 Feb 13. Review.

PMID:
28202262

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