List of works - Carmela Scuderi

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

scientific article published on 01 March 1995

BIT-mapped somatosensory evoked potentials in the fragile X syndrome

article

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

article

Carrier screening for spinal muscular atrophy in Italian population

article

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

scientific article published in August 2000

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

scientific article published on 28 April 2010

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study

scientific article (publication date: 26 May 2009)

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

article

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

scientific article published on March 2016

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

scientific article

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

Identification of Novel Mutations in Patients with Coffin-Lowry Syndrome by a Denaturing HPLC-Based Assay

scientific article published on 01 December 2005

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

LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.

scientific article

Letter to the Editor

scientific article published on 01 December 1996

POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.

scientific article published on 2 June 2008

Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations

scientific article published in April 2009

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

Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation.

scientific article published in May 2005

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

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

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

article

List of works by Carmela Scuderi

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

BIT-mapped somatosensory evoked potentials in the fragile X syndrome

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

Carrier screening for spinal muscular atrophy in Italian population

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

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

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study

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

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

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

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

Eyelid myoclonia with absences in three subjects with mental retardation

Identification of Novel Mutations in Patients with Coffin-Lowry Syndrome by a Denaturing HPLC-Based Assay

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

LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.

Letter to the Editor

POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.

Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations

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

Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation.

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

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.

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