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Items: 1 to 20 of 39

1.

Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.

Barba C, Darra F, Cusmai R, Procopio E, Dionisi Vici C, Keldermans L, Vuillaumier-Barrot S, Lefeber DJ, Guerrini R; CDG Group.

Dev Med Child Neurol. 2016 Oct;58(10):1085-91. doi: 10.1111/dmcn.13141. Epub 2016 May 13.

PMID:
27172925
2.

The visual system in eyelid myoclonia with absences.

Vaudano AE, Ruggieri A, Tondelli M, Avanzini P, Benuzzi F, Gessaroli G, Cantalupo G, Mastrangelo M, Vignoli A, Bonaventura CD, Canevini MP, Bernardina BD, Nichelli PF, Meletti S.

Ann Neurol. 2014 Sep;76(3):412-27. doi: 10.1002/ana.24236. Epub 2014 Aug 11.

PMID:
25130932
3.

Attention-deficit/hyperactivity disorder drugs and growth: an Italian prospective observational study.

Germinario EA, Arcieri R, Bonati M, Zuddas A, Masi G, Vella S, Chiarotti F, Panei P; Italian ADHD Regional Reference Centers.

J Child Adolesc Psychopharmacol. 2013 Sep;23(7):440-7. doi: 10.1089/cap.2012.0086. Epub 2013 Sep 11.

4.

Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy.

Santorelli FM, Garavaglia B, Cardona F, Nardocci N, Bernardina BD, Sartori S, Suppiej A, Bertini E, Claps D, Battini R, Biancheri R, Filocamo M, Pezzini F, Simonati A.

Orphanet J Rare Dis. 2013 Feb 2;8:19. doi: 10.1186/1750-1172-8-19.

5.

Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.

Zara F, Specchio N, Striano P, Robbiano A, Gennaro E, Paravidino R, Vanni N, Beccaria F, Capovilla G, Bianchi A, Caffi L, Cardilli V, Darra F, Bernardina BD, Fusco L, Gaggero R, Giordano L, Guerrini R, Incorpora G, Mastrangelo M, Spaccini L, Laverda AM, Vecchi M, Vanadia F, Veggiotti P, Viri M, Occhi G, Budetta M, Taglialatela M, Coviello DA, Vigevano F, Minetti C.

Epilepsia. 2013 Mar;54(3):425-36. doi: 10.1111/epi.12089. Epub 2013 Jan 29.

6.

Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR.

Terracciano A, Specchio N, Darra F, Sferra A, Bernardina BD, Vigevano F, Bertini E.

Neurogenetics. 2012 Nov;13(4):341-5. doi: 10.1007/s10048-012-0342-9. Epub 2012 Sep 6.

PMID:
22949144
7.

Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype.

Finelli P, Sirchia SM, Masciadri M, Crippa M, Recalcati MP, Rusconi D, Giardino D, Monti L, Cogliati F, Faravelli F, Natacci F, Zoccante L, Bernardina BD, Russo S, Larizza L.

Mol Cytogenet. 2012 Apr 4;5:16. doi: 10.1186/1755-8166-5-16.

8.

Definition of the neurological phenotype associated with dup (X)(p11.22-p11.23).

Broli M, Bisulli F, Mastrangelo M, Fontana E, Fiocchi I, Zucca C, Bonaglia MC, Buono S, Musumeci SA, Romano C, Reitano S, Savio M, Vitello GA, Bernardi B, Cevolani D, Agati R, Poda R, Gallassi R, Giorda R, Zuffardi O, Bernardina BD, Seri M, Tinuper P.

Epileptic Disord. 2011 Sep;13(3):240-51. doi: 10.1684/epd.2011.0462.

PMID:
21926047
9.

No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder.

Curran S, Bolton P, Rozsnyai K, Chiocchetti A, Klauck SM, Duketis E, Poustka F, Schlitt S, Freitag CM, Lee I, Muglia P; ITAN, Poot M, Staal W, de Jonge MV, Ophoff RA, Lewis C, Skuse D, Mandy W, Vassos E, Fossdal R, Magnusson P, Hreidarsson S, Saemundsen E, Stefansson H, Stefansson K, Collier D.

Am J Med Genet B Neuropsychiatr Genet. 2011 Sep;156B(6):633-9. doi: 10.1002/ajmg.b.31201. Epub 2011 Jun 8.

PMID:
21656903
10.

Brain iron levels in attention-deficit/hyperactivity disorder: a pilot MRI study.

Cortese S, Azoulay R, Castellanos FX, Chalard F, Lecendreux M, Chechin D, Delorme R, Sebag G, Sbarbati A, Mouren MC, Bernardina BD, Konofal E.

World J Biol Psychiatry. 2012 Mar;13(3):223-31. doi: 10.3109/15622975.2011.570376. Epub 2011 May 17.

PMID:
21585274
11.

Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.

Specchio N, Marini C, Terracciano A, Mei D, Trivisano M, Sicca F, Fusco L, Cusmai R, Darra F, Bernardina BD, Bertini E, Guerrini R, Vigevano F.

Epilepsia. 2011 Jul;52(7):1251-7. doi: 10.1111/j.1528-1167.2011.03063.x. Epub 2011 Apr 11.

12.

Familial Ohtahara syndrome due to a novel ARX gene mutation.

Giordano L, Sartori S, Russo S, Accorsi P, Galli J, Tiberti A, Bettella E, Marchi M, Vignoli A, Darra F, Murgia A, Bernardina BD.

Am J Med Genet A. 2010 Dec;152A(12):3133-7. doi: 10.1002/ajmg.a.33701.

PMID:
21108397
13.

Electroclinical findings in four patients with karyotype 47,XYY.

Torniero C, Bernardina BD, Fontana E, Darra F, Danesino C, Elia M.

Brain Dev. 2011 May;33(5):384-9. doi: 10.1016/j.braindev.2010.07.010. Epub 2010 Sep 16.

PMID:
20817432
14.

Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy.

Mei D, Marini C, Novara F, Bernardina BD, Granata T, Fontana E, Parrini E, Ferrari AR, Murgia A, Zuffardi O, Guerrini R.

Epilepsia. 2010 Apr;51(4):647-54. doi: 10.1111/j.1528-1167.2009.02308.x. Epub 2009 Sep 22.

15.

Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations.

Simonati A, Tessa A, Bernardina BD, Biancheri R, Veneselli E, Tozzi G, Bonsignore M, Grosso S, Piemonte F, Santorelli FM.

Pediatr Neurol. 2009 Apr;40(4):271-6. doi: 10.1016/j.pediatrneurol.2008.10.018.

PMID:
19302939
16.

Sleep disturbances and serum ferritin levels in children with attention-deficit/hyperactivity disorder.

Cortese S, Konofal E, Bernardina BD, Mouren MC, Lecendreux M.

Eur Child Adolesc Psychiatry. 2009 Jul;18(7):393-9. doi: 10.1007/s00787-009-0746-8. Epub 2009 Feb 5.

PMID:
19205783
17.

The relationship between body size and depression symptoms in adolescents.

Cortese S, Falissard B, Angriman M, Pigaiani Y, Banzato C, Bogoni G, Pellegrino M, Cook S, Pajno-Ferrara F, Bernardina BD, Mouren MC, Maffeis C.

J Pediatr. 2009 Jan;154(1):86-90. doi: 10.1016/j.jpeds.2008.07.040. Epub 2008 Sep 10.

PMID:
18783792
18.

Attention-deficit/hyperactivity disorder (ADHD) and obesity: a systematic review of the literature.

Cortese S, Angriman M, Maffeis C, Isnard P, Konofal E, Lecendreux M, Purper-Ouakil D, Vincenzi B, Bernardina BD, Mouren MC.

Crit Rev Food Sci Nutr. 2008 Jun;48(6):524-37. doi: 10.1080/10408390701540124. Review.

PMID:
18568858
19.

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.

Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, Stevenson RE, Schroer RJ, Novara F, De Gregori M, Ciccone R, Broomer A, Casuga I, Wang Y, Xiao C, Barbacioru C, Gimelli G, Bernardina BD, Torniero C, Giorda R, Regan R, Murday V, Mansour S, Fichera M, Castiglia L, Failla P, Ventura M, Jiang Z, Cooper GM, Knight SJ, Romano C, Zuffardi O, Chen C, Schwartz CE, Eichler EE.

Nat Genet. 2008 Mar;40(3):322-8. doi: 10.1038/ng.93. Epub 2008 Feb 17.

20.

Attention-deficit/hyperactivity disorder, Tourette's syndrome, and restless legs syndrome: the iron hypothesis.

Cortese S, Lecendreux M, Bernardina BD, Mouren MC, Sbarbati A, Konofal E.

Med Hypotheses. 2008;70(6):1128-32. doi: 10.1016/j.mehy.2007.10.013. Epub 2007 Dec 27.

PMID:
18164140
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