Alessandra D’Amico

Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense RNF213 Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review

G. Limongelli, C. Santoro, V. Piccolo, 2022, International journal of molecular sciences.

A case of Cerebrotendinous Xanthomatosis with spinal cord involvement and without tendon xanthomas: identification of a new mutation of the CYP27A1 gene

G. Tedeschi, G. Corso, A. Bisecco, 2019, Acta Neurologica Belgica.

Hydranencephaly in CENPJ-related Seckel syndrome.

P. Striano, A. Coppola, L. Ugga, 2022, European journal of medical genetics.

The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration

M. T. Pellecchia, A Albanese, A. Bentivoglio, 2005, Neurology.

A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect

G. Scarano, G. Limongelli, V. Nigro, 2023, Genes.

Whole-Body Hypothermia vs Targeted Normothermia for Neonates With Mild Encephalopathy

S. Shankaran, P. Montaldo, G. Atreja, 2024, JAMA network open.

Magnetic Resonance Biomarkers and Neurological Outcome of Infants with Mild Hypoxic-Ischaemic Encephalopathy Who Progress to Moderate Hypoxic-Ischaemic Encephalopathy

C. Capristo, P. Montaldo, M. Cirillo, 2022, Neonatology.

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

H. J. Schelhaas, S. Naidu, E. Gardella, 2024, Epilepsia.