about
The in cis T251I and P587L POLG1 base changes: description of a new family and literature review.Nail aplasia, microcephaly, severe mental retardation and MRI abnormalities: report of two unrelated cases.Schimmelpenning syndrome: a kind of craniofacial epidermal nevus associated with cerebral and ocular MR imaging abnormalities.6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases.An atypical patient with Cowden syndrome and PTEN gene mutation presenting with cortical malformation and focal epilepsy.Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortex.Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations.Transient MRI abnormalities associated with partial status epilepticus: a case reportTuberous sclerosis underlying neonatal poliosisMutations 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
P50
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P50
description
onderzoeker
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researcher ORCID ID = 0000-0002-8058-344X
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name
Carmelo Amato
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Carmelo Amato
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Carmelo Amato
@es
Carmelo Amato
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Carmelo Amato
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Carmelo Amato
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Carmelo Amato
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Carmelo Amato
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Carmelo Amato
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Carmelo Amato
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Carmelo Amato
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Carmelo Amato
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0000-0002-8058-344X