List of works by Sebastiano Antonino Musumeci

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

scientific article

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

scientific article published on 17 January 2013

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

scientific article published in May 2006

A double-blind, parallel, multicenter comparison of L-acetylcarnitine with placebo on the attention deficit hyperactivity disorder in fragile X syndrome boys

scientific article published on 01 April 2008

A further family with epilepsy, dementia and yellow teeth: the Kohlschütter syndrome

scientific article published on 01 March 1995

A reduced number of metabotropic glutamate subtype 5 receptors are associated with constitutive homer proteins in a mouse model of fragile X syndrome.

scientific article

A simple electronic and computer system for automatic spindle detection

scientific article published in May 1989

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

scientific article published on 18 July 2012

Age, sex and mental retardation related changes of brainstem auditory evoked potentials in Down's syndrome

scientific article published in September 1995

Age-and height-dependent changes of amplitude and latency of somatosensory evoked potentials in children and young adults with Down's syndrome

scientific article published in January 1996

Age-related changes of cortical excitability in subjects with sleep-enhanced centrotemporal spikes: a somatosensory evoked potential study

scientific article published in April 2000

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

scientific article published on 27 September 2006

BIT-mapped somatosensory evoked potentials in the fragile X syndrome

article

Bit-mapped somatosensory evoked potentials in Down's syndrome individuals

article

Brainstem auditory evoked potentials in tuberous sclerosis

scientific article

Carrier screening for spinal muscular atrophy in Italian population

article

Chaotic behavior of EEG slow-wave activity during sleep

scientific article published in December 1996

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

scientific article published on 28 April 2010

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

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

scientific article published on 27 August 2009

Correlation dimension of EEG slow-wave activity during sleep in children and young adults

scientific article

Cutis verticis gyrata and chromosomal fragile sites

scientific article published on 01 February 1991

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

scientific article published in March 2000

Definition of minimal duplicated region encompassing theXIAPandSTAG2genes in the Xq25 microduplication syndrome

article

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

scientific article published in September 2011

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

scientific article published on 14 October 2008

Delta-beta-thalassemia is due to a gene deletion

scientific article published on 01 September 1976

Different EEG frequency band synchronization during nocturnal frontal lobe seizures.

scientific article published in May 2004

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

scientific article published on 30 December 2013

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

scientific article

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

scientific article

Epilepsy and EEG findings in males with fragile X syndrome.

scientific article published in August 1999

Epilepsy and fragile X syndrome: a follow-up study

scientific article published in February 1991

Epileptic seizures and fra(X) syndrome

scientific article published on 01 February 1991

Evoked spikes and giant somatosensory evoked potentials in a patient with fragile-X syndrome

scientific article published in October 1994

Eyelid myoclonia with absences in three subjects with mental retardation

scientific article published on 01 August 2000

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

scientific article published on 11 February 2015

Giant somatosensory evoked potentials and pathophysiology of hyperekplexia. Neurophysiological study of one patient

scientific article published in September 1994

Heart rate variability and apnea during sleep in Down's syndrome

scientific article published in December 1998

Heart rate variability during sleep in children with partial epilepsy

scientific article published in June 2002

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

Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity

scientific article

Leigh syndrome and partial deficit of cytochrome c oxidase associated with epilepsia partialis continua

scientific article published on 01 May 1996

Leukoencephalopathy as a rare complication of hepatitis C infection.

scientific article published in November 2006

Modulation of the interictal epileptiform EEG activity during sleep: from oscillations to complex dynamics

scientific article

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

scientific article published on 25 January 2019

Myoclonic absence-like seizures and chromosome abnormality syndromes

scientific article

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

scientific article published on December 2006

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

scientific article published in March 2002

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

scientific article published in July 2003

Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations.

scientific article published in April 2009

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

scientific article published in November 2001

Saethre-Chotzen syndrome: a clinical, EEG and neuroradiological study

scientific article

Scalp topographic mapping of middle-latency somatosensory evoked potentials in normal aging and dementia

scientific article published on 01 January 1996

Seizures and epileptiform EEG abnormalities in FRAXE syndrome

scientific article published in October 2001

Seizures in Klinefelter's syndrome: a clinical and EEG study of five patients

scientific article published in May 1995

Severe encephalomyopathy in a patient with homoplasmic A5814G point mutation in mitochondrial tRNACys gene

article

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

scientific article

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

scientific article

Sleep patterns of Down's syndrome children: effects of butoctamide hydrogen succinate (BAHS) administration

scientific article published in January 1986

Somatosensory evoked potentials and hyperekplexia outcome

scientific article published on 01 January 1995

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

scientific article

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

scientific article published on 25 January 2013

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

scientific article

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

scientific article published in September 2003

The specificity of the characteristic sleep EEG pattern in the fragile-X syndrome

scientific article published in February 1990

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

scientific article published on July 2000

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

scientific article published on 01 January 2000

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

scientific article published on 01 April 2001

Trisomy 12p and epilepsy with myoclonic absences

scientific article published in March 1998

Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis

article

delta beta-Thalassaemia in Sicily: report of a case of double heterozygosity for A gamma delta beta-thalassaemia and A gamma G gamma delta beta-thalassaemia ⬇️

scientific article published on February 1, 1983

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