Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 90

1.

GRIN2A: involvement in movement disorders and intellectual disability without seizures.

Nicotera AG, Calì F, Vinci M, Musumeci SA.

Neurol Sci. 2019 Nov;40(11):2405-2406. doi: 10.1007/s10072-019-03923-2. Epub 2019 May 16. No abstract available.

PMID:
31098720
2.

EEG Abnormalities as a Neurophysiological Biomarker of Severity in Autism Spectrum Disorder: A Pilot Cohort Study.

Nicotera AG, Hagerman RJ, Catania MV, Buono S, Di Nuovo S, Liprino EM, Stracuzzi E, Giusto S, Di Vita G, Musumeci SA.

J Autism Dev Disord. 2019 Jun;49(6):2337-2347. doi: 10.1007/s10803-019-03908-2.

PMID:
30726535
3.

Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity.

Cellini E, Vetro A, Conti V, Marini C, Doccini V, Clementella C, Parrini E, Giglio S, Della Monica M, Fichera M, Musumeci SA, Guerrini R.

Eur J Hum Genet. 2019 Jun;27(6):909-918. doi: 10.1038/s41431-019-0335-3. Epub 2019 Jan 25.

PMID:
30683929
4.

Is myopathy with rimmed vacuoles a hallmark of juvenile neuronal ceroid lipofuscinosis (CLN3)?

Borgione E, Castello F, Lo Giudice M, Santa Paola S, Salvatore S, Berti G, Malandrini A, Bottitta M, Musumeci SA, Scuderi C.

Neurol Sci. 2016 May;37(5):805-7. doi: 10.1007/s10072-015-2439-z. Epub 2015 Dec 23. No abstract available.

PMID:
26700800
5.

Fragile X mental retardation protein (FMRP) interacting proteins exhibit different expression patterns during development.

Bonaccorso CM, Spatuzza M, Di Marco B, Gloria A, Barrancotto G, Cupo A, Musumeci SA, D'Antoni S, Bardoni B, Catania MV.

Int J Dev Neurosci. 2015 May;42:15-23. doi: 10.1016/j.ijdevneu.2015.02.004. Epub 2015 Feb 11.

PMID:
25681562
6.

The in cis T251I and P587L POLG1 base changes: description of a new family and literature review.

Scuderi C, Borgione E, Castello F, Lo Giudice M, Santa Paola S, Giambirtone M, Di Blasi FD, Elia M, Amato C, CittĂ  S, Gagliano C, Barbarino G, Vitello GA, Musumeci SA.

Neuromuscul Disord. 2015 Apr;25(4):333-9. doi: 10.1016/j.nmd.2015.01.004. Epub 2015 Jan 19. Review.

PMID:
25660390
7.

Sox11 is required to maintain proper levels of Hedgehog signaling during vertebrate ocular morphogenesis.

Pillai-Kastoori L, Wen W, Wilson SG, Strachan E, Lo-Castro A, Fichera M, Musumeci SA, Lehmann OJ, Morris AC.

PLoS Genet. 2014 Jul 10;10(7):e1004491. doi: 10.1371/journal.pgen.1004491. eCollection 2014 Jul.

8.

Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome.

Di Benedetto D, Musumeci SA, Avola E, Alberti A, Buono S, Scuderi C, Grillo L, Galesi O, Spalletta A, Giudice ML, Luciano D, Vinci M, Bianca S, Romano C, Fichera M.

Am J Med Genet A. 2014 Aug;164A(8):1923-30. doi: 10.1002/ajmg.a.36570. Epub 2014 Apr 14.

PMID:
24733578
9.

Dysregulation of group-I metabotropic glutamate (mGlu) receptor mediated signalling in disorders associated with Intellectual Disability and Autism.

D'Antoni S, Spatuzza M, Bonaccorso CM, Musumeci SA, Ciranna L, Nicoletti F, Huber KM, Catania MV.

Neurosci Biobehav Rev. 2014 Oct;46 Pt 2:228-41. doi: 10.1016/j.neubiorev.2014.02.003. Epub 2014 Feb 15. Review.

10.

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

Lionel AC, Tammimies K, Vaags AK, Rosenfeld JA, Ahn JW, Merico D, Noor A, Runke CK, Pillalamarri VK, Carter MT, Gazzellone MJ, Thiruvahindrapuram B, Fagerberg C, Laulund LW, Pellecchia G, Lamoureux S, Deshpande C, Clayton-Smith J, White AC, Leather S, Trounce J, Melanie Bedford H, Hatchwell E, Eis PS, Yuen RK, Walker S, Uddin M, Geraghty MT, Nikkel SM, Tomiak EM, Fernandez BA, Soreni N, Crosbie J, Arnold PD, Schachar RJ, Roberts W, Paterson AD, So J, Szatmari P, Chrysler C, Woodbury-Smith M, Brian Lowry R, Zwaigenbaum L, Mandyam D, Wei J, Macdonald JR, Howe JL, Nalpathamkalam T, Wang Z, Tolson D, Cobb DS, Wilks TM, Sorensen MJ, Bader PI, An Y, Wu BL, Musumeci SA, Romano C, Postorivo D, Nardone AM, Monica MD, Scarano G, Zoccante L, Novara F, Zuffardi O, Ciccone R, Antona V, Carella M, Zelante L, Cavalli P, Poggiani C, Cavallari U, Argiropoulos B, Chernos J, Brasch-Andersen C, Speevak M, Fichera M, Ogilvie CM, Shen Y, Hodge JC, Talkowski ME, Stavropoulos DJ, Marshall CR, Scherer SW.

Hum Mol Genet. 2014 May 15;23(10):2752-68. doi: 10.1093/hmg/ddt669. Epub 2013 Dec 30.

11.

The 9-bp deletion in region V of mtDNA: a risk factor of hearing loss and encephalomyopathy in Caucasian populations?

Borgione E, Lo Giudice M, Castello F, Musumeci SA, Di Blasi FD, Savio M, Elia M, Rizzo B, Barbarino G, Romano S, Calabrese G, Di Benedetto D, Scuderi C.

Neurol Sci. 2013 Jul;34(7):1223-6. doi: 10.1007/s10072-013-1297-9. Epub 2013 Jan 25.

PMID:
23354605
12.

6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies.

Di Benedetto D, Di Vita G, Romano C, Giudice ML, Vitello GA, Zingale M, Grillo L, Castiglia L, Musumeci SA, Fichera M.

Mol Cytogenet. 2013 Jan 17;6(1):4. doi: 10.1186/1755-8166-6-4.

13.

Activation of 5-HT7 serotonin receptors reverses metabotropic glutamate receptor-mediated synaptic plasticity in wild-type and Fmr1 knockout mice, a model of Fragile X syndrome.

Costa L, Spatuzza M, D'Antoni S, Bonaccorso CM, Trovato C, Musumeci SA, Leopoldo M, Lacivita E, Catania MV, Ciranna L.

Biol Psychiatry. 2012 Dec 1;72(11):924-33. doi: 10.1016/j.biopsych.2012.06.008. Epub 2012 Jul 18.

PMID:
22817866
14.

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.

15.

5-HT(1A) and 5-HT(7) receptors differently modulate AMPA receptor-mediated hippocampal synaptic transmission.

Costa L, Trovato C, Musumeci SA, Catania MV, Ciranna L.

Hippocampus. 2012 Apr;22(4):790-801. doi: 10.1002/hipo.20940. Epub 2011 Apr 27.

PMID:
21538661
16.

Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortex.

Scuderi C, Borgione E, Castello F, Lo Giudice M, Fichera M, Elia M, Amato C, Savio M, Di Blasi FD, Vitello GA, Romano S, DiMauro S, Musumeci SA.

Mitochondrion. 2010 Aug;10(5):548-54. doi: 10.1016/j.mito.2010.04.004. Epub 2010 Apr 28.

PMID:
20433951
17.

Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.

Giorda R, Bonaglia MC, Beri S, Fichera M, Novara F, Magini P, Urquhart J, Sharkey FH, Zucca C, Grasso R, Marelli S, Castiglia L, Di Benedetto D, Musumeci SA, Vitello GA, Failla P, Reitano S, Avola E, Bisulli F, Tinuper P, Mastrangelo M, Fiocchi I, Spaccini L, Torniero C, Fontana E, Lynch SA, Clayton-Smith J, Black G, Jonveaux P, Leheup B, Seri M, Romano C, dalla Bernardina B, Zuffardi O.

Am J Hum Genet. 2009 Sep;85(3):394-400. doi: 10.1016/j.ajhg.2009.08.001. Epub 2009 Aug 27. Erratum in: Am J Hum Genet. 2009 Sep;85(3):419.

18.

Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations.

Scuderi C, Fichera M, Calabrese G, Elia M, Amato C, Savio M, Borgione E, Vitello GA, Musumeci SA.

J Neurol Neurosurg Psychiatry. 2009 Apr;80(4):440-3. doi: 10.1136/jnnp.2008.154807.

PMID:
19289482
19.

Deletion 2p25.2: a cryptic chromosome abnormality in a patient with autism and mental retardation detected using aCGH.

Lo-Castro A, Giana G, Fichera M, Castiglia L, Grillo L, Musumeci SA, Galasso C, Curatolo P.

Eur J Med Genet. 2009 Jan-Feb;52(1):67-70. doi: 10.1016/j.ejmg.2008.09.004. Epub 2008 Oct 14.

PMID:
18992374
20.

CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.

Elia M, Falco M, Ferri R, Spalletta A, Bottitta M, Calabrese G, Carotenuto M, Musumeci SA, Lo Giudice M, Fichera M.

Neurology. 2008 Sep 23;71(13):997-9. doi: 10.1212/01.wnl.0000326592.37105.88.

PMID:
18809835
21.

Nail aplasia, microcephaly, severe mental retardation and MRI abnormalities: report of two unrelated cases.

Musumeci SA, Elia M, Fichera M, Amato C, Ferri R, Romano C, Federico A.

Neurol Sci. 2006 Dec;27(6):425-31.

PMID:
17205229
22.

Leukoencephalopathy as a rare complication of hepatitis C infection.

Buccoliero R, Gambelli S, Sicurelli F, Malandrini A, Palmeri S, De Santis M, Stromillo ML, De Stefano N, Sperduto A, Musumeci SA, Federico A.

Neurol Sci. 2006 Nov;27(5):360-3.

PMID:
17122948
23.

Audiogenic seizure susceptibility is reduced in fragile X knockout mice after introduction of FMR1 transgenes.

Musumeci SA, Calabrese G, Bonaccorso CM, D'Antoni S, Brouwer JR, Bakker CE, Elia M, Ferri R, Nelson DL, Oostra BA, Catania MV.

Exp Neurol. 2007 Jan;203(1):233-40. Epub 2006 Sep 27.

PMID:
17007840
24.

6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases.

Elia M, Striano P, Fichera M, Gaggero R, Castiglia L, Galesi O, Malacarne M, Pierluigi M, Amato C, Musumeci SA, Romano C, Majore S, Grammatico P, Zara F, Striano S, Faravelli F.

Epilepsia. 2006 May;47(5):830-8.

25.

Sleep breathing and periodic leg movement pattern in Angelman Syndrome: a polysomnographic study.

Miano S, Bruni O, Elia M, Musumeci SA, Verrillo E, Ferri R.

Clin Neurophysiol. 2005 Nov;116(11):2685-92. Epub 2005 Oct 6.

PMID:
16213786
26.

Object recognition impairment in Fmr1 knockout mice is reversed by amphetamine: involvement of dopamine in the medial prefrontal cortex.

Ventura R, Pascucci T, Catania MV, Musumeci SA, Puglisi-Allegra S.

Behav Pharmacol. 2004 Sep;15(5-6):433-42.

PMID:
15343070
27.

Different EEG frequency band synchronization during nocturnal frontal lobe seizures.

Ferri R, Stam CJ, Lanuzza B, Cosentino FI, Elia M, Musumeci SA, Pennisi G.

Clin Neurophysiol. 2004 May;115(5):1202-11.

PMID:
15066546
28.

The mismatch negativity and the P3a components of the auditory event-related potentials in autistic low-functioning subjects.

Ferri R, Elia M, Agarwal N, Lanuzza B, Musumeci SA, Pennisi G.

Clin Neurophysiol. 2003 Sep;114(9):1671-80.

PMID:
12948796
29.

Nonlinear EEG analysis during sleep in premature and full-term newborns.

Ferri R, Chiaramonti R, Elia M, Musumeci SA, Ragazzoni A, Stam CJ.

Clin Neurophysiol. 2003 Jul;114(7):1176-80.

PMID:
12842712
30.

Peripheral markers of the gamma-aminobutyric acid (GABA)ergic system in Angelman's syndrome.

Borgatti R, Piccinelli P, Passoni D, Romeo A, Viri M, Musumeci SA, Elia M, Cogliati T, Valseriati D, Grasso R, Raggi ME, Ferrarese C.

J Child Neurol. 2003 Jan;18(1):21-5.

PMID:
12661934
31.

Heart rate variability during sleep in children with partial epilepsy.

Ferri R, Curzi-Dascalova L, Arzimanoglou A, Bourgeois M, Beaud C, Nunes ML, Elia M, Musumeci SA, Tripodi M.

J Sleep Res. 2002 Jun;11(2):153-60.

32.

Non-linear EEG measures during sleep: effects of the different sleep stages and cyclic alternating pattern.

Ferri R, Parrino L, Smerieri A, Terzano MG, Elia M, Musumeci SA, Pettinato S, Stam CJ.

Int J Psychophysiol. 2002 Mar;43(3):273-86.

PMID:
11850092
33.

Non-linear EEG analysis in children with epilepsy and electrical status epilepticus during slow-wave sleep (ESES).

Ferri R, Elia M, Musumeci SA, Stam CJ.

Clin Neurophysiol. 2001 Dec;112(12):2274-80.

PMID:
11738199
34.

Relationship between Delta, Sigma, Beta, and Gamma EEG bands at REM sleep onset and REM sleep end.

Ferri R, Cosentino FI, Elia M, Musumeci SA, Marinig R, Bergonzi P.

Clin Neurophysiol. 2001 Nov;112(11):2046-52.

PMID:
11682342
35.

Seizures and epileptiform EEG abnormalities in FRAXE syndrome.

Musumeci SA, Ferri R, Scuderi C, Bosco P, Elia M.

Clin Neurophysiol. 2001 Oct;112(10):1954-5. No abstract available.

PMID:
11601437
36.

Somatosensory evoked potentials in patients affected by unilateral cerebrovascular lesions with onset during the perinatal period or adulthood.

Ferri R, Elia M, Musumeci SA, Cosentino FI, Roccasalva G, Spada RS, Toscano G.

J Child Neurol. 2001 Aug;16(8):541-7.

PMID:
11510922
37.

Chromosome abnormalities and epilepsy.

Elia M, Musumeci SA, Ferri R, Ayala GF.

Epilepsia. 2001;42 Suppl 1:24-7; discussion 28. No abstract available.

38.

Transient MRI abnormalities associated with partial status epilepticus: a case report.

Amato C, Elia M, Musumeci SA, Bisceglie P, Moschini M.

Eur J Radiol. 2001 Apr;38(1):50-4.

PMID:
11287165
39.

Eyelid myoclonia with absences in three subjects with mental retardation.

Scuderi C, Musumeci SA, Ferri R, Calabrese G, Elia M.

Neurol Sci. 2000 Aug;21(4):247-50.

PMID:
11214665
40.

Does a peculiar EEG pattern exist also for FRAXE mental retardation?

Musumeci SA, Scuderi C, Ferri R, Anello G, Salluzzo R, Bosco P, Elia M.

Clin Neurophysiol. 2000 Sep;111(9):1632-6.

PMID:
10964075
41.

Clinical correlates of brain morphometric features of subjects with low-functioning autistic disorder.

Elia M, Ferri R, Musumeci SA, Panerai S, Bottitta M, Scuderi C.

J Child Neurol. 2000 Aug;15(8):504-8.

PMID:
10961787
42.

The time course of high-frequency bands (15-45 Hz) in all-night spectral analysis of sleep EEG.

Ferri R, Elia M, Musumeci SA, Pettinato S.

Clin Neurophysiol. 2000 Jul;111(7):1258-65.

PMID:
10880801
43.

Cyclic alternating pattern and spectral analysis of heart rate variability during normal sleep.

Ferri R, Parrino L, Smerieri A, Terzano MG, Elia M, Musumeci SA, Pettinato S.

J Sleep Res. 2000 Mar;9(1):13-8.

44.
45.

Sleep in subjects with autistic disorder: a neurophysiological and psychological study.

Elia M, Ferri R, Musumeci SA, Del Gracco S, Bottitta M, Scuderi C, Miano G, Panerai S, Bertrand T, Grubar JC.

Brain Dev. 2000 Mar;22(2):88-92.

PMID:
10722958
46.

Topiramate potentiates the antiseizure activity of some anticonvulsants in DBA/2 mice.

De Sarro G, Gratteri S, Bonacci F, Musumeci SA, Elia M, De Sarro A.

Eur J Pharmacol. 2000 Jan 28;388(2):163-70.

PMID:
10666508
47.

Audiogenic seizures susceptibility in transgenic mice with fragile X syndrome.

Musumeci SA, Bosco P, Calabrese G, Bakker C, De Sarro GB, Elia M, Ferri R, Oostra BA.

Epilepsia. 2000 Jan;41(1):19-23.

48.

Seizures in Chiari I malformation: a clinical and electroencephalographic study.

Elia M, Biondi R, Sofia V, Musumeci SA, Ferri R, Capovilla G, Curatolo P.

J Child Neurol. 1999 Jul;14(7):446-50.

PMID:
10573467
49.

Epilepsy and EEG findings in males with fragile X syndrome.

Musumeci SA, Hagerman RJ, Ferri R, Bosco P, Dalla Bernardina B, Tassinari CA, De Sarro GB, Elia M.

Epilepsia. 1999 Aug;40(8):1092-9.

50.

Heart rate variability and autonomic function during sleep in fragile X syndrome.

Ferri R, Del Gracco S, Elia M, Musumeci SA, Pettinato S.

Am J Med Genet. 1999 Apr 2;83(4):296-7. No abstract available.

PMID:
10208164

Supplemental Content

Loading ...
Support Center