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List of works by Carmelo Amato

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

scientific article published in May 2006

An atypical patient with Cowden syndrome and PTEN gene mutation presenting with cortical malformation and focal epilepsy.

scientific article

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

scientific article published on 28 April 2010

Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy

scientific article published on 17 January 2019

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

scientific article published on December 2006

Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations

scientific article published in April 2009

Schimmelpenning syndrome: a kind of craniofacial epidermal nevus associated with cerebral and ocular MR imaging abnormalities.

scientific article published on 18 March 2010

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

scientific article

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

scientific article published on 01 April 2001

Tuberous sclerosis underlying neonatal poliosis

scientific article published on 05 March 2014

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