Lista de obras - Sebastiano Antonino Musumeci

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

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 1995

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

artículo científico publicado en 2005

A simple electronic and computer system for automatic spindle detection

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 1995

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

artículo científico publicado en 1996

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

artículo científico publicado en 2000

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

artículo científico publicado en 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

artículo científico publicado en 1993

Carrier screening for spinal muscular atrophy in Italian population

article

Chaotic behavior of EEG slow-wave activity during sleep

artículo científico publicado en 1996

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

artículo científico publicado en 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

artículo científico publicado en 2009

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

artículo científico publicado en 1998

Cutis verticis gyrata and chromosomal fragile sites

artículo científico publicado en 1991

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

artículo científico publicado en 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).

artículo científico publicado en 2011

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

artículo científico publicado en 2008

Delta-beta-thalassemia is due to a gene deletion

artículo científico publicado el 1 de septiembre de 1976

Different EEG frequency band synchronization during nocturnal frontal lobe seizures.

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2000

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

artículo científico publicado en 2014

Epilepsy and EEG findings in males with fragile X syndrome.

artículo científico publicado en 1999

Epilepsy and fragile X syndrome: a follow-up study

artículo científico publicado en 1991

Epileptic seizures and fra(X) syndrome

artículo científico publicado en 1991

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

artículo científico publicado en 1994

Eyelid myoclonia with absences in three subjects with mental retardation

artículo científico publicado en 2000

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

artículo científico publicado en 2015

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

artículo científico publicado en 1994

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

artículo científico publicado en 1998

Heart rate variability during sleep in children with partial epilepsy

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 1996

Leukoencephalopathy as a rare complication of hepatitis C infection.

artículo científico publicado en 2006

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

artículo científico publicado en 1991

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

artículo científico publicado en 2019

Myoclonic absence-like seizures and chromosome abnormality syndromes

artículo científico publicado en 1998

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

artículo científico publicado en 2006

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

artículo científico publicado en 2002

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

artículo científico publicado en 2003

Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations

artículo científico publicado en 2009

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

artículo científico publicado en 2001

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

artículo científico publicado en 1996

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

artículo científico publicado en 2001

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

artículo científico publicado en 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

artículo científico publicado en 2005

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

artículo científico publicado en 2000

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2003

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

artículo científico publicado en 1990

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

artículo científico publicado en 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

artículo científico publicado en 2001

Trisomy 12p and epilepsy with myoclonic absences

artículo científico publicado en 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 ⬇️

artículo científico publicado el 1 de febrero de 1983

Lista de obras de Sebastiano Antonino Musumeci

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

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

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

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

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

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

A simple electronic and computer system for automatic spindle detection

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

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

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

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

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

BIT-mapped somatosensory evoked potentials in the fragile X syndrome

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

Brainstem auditory evoked potentials in tuberous sclerosis

Carrier screening for spinal muscular atrophy in Italian population

Chaotic behavior of EEG slow-wave activity during sleep

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

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

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

Cutis verticis gyrata and chromosomal fragile sites

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

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

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

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

Delta-beta-thalassemia is due to a gene deletion

Different EEG frequency band synchronization during nocturnal frontal lobe seizures.

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

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

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

Epilepsy and EEG findings in males with fragile X syndrome.

Epilepsy and fragile X syndrome: a follow-up study

Epileptic seizures and fra(X) syndrome

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

Eyelid myoclonia with absences in three subjects with mental retardation

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

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

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

Heart rate variability during sleep in children with partial epilepsy

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

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

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

Leukoencephalopathy as a rare complication of hepatitis C infection.

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

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

Myoclonic absence-like seizures and chromosome abnormality syndromes

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

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

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

Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations

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

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

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

Seizures and epileptiform EEG abnormalities in FRAXE syndrome

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

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

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

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

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

Somatosensory evoked potentials and hyperekplexia outcome

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

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

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

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

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

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

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

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

Trisomy 12p and epilepsy with myoclonic absences

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

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 ⬇️