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Pediatric Neurology|December 11, 2020
Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical FeaturesCara Piccoli, Nowa Bronner, Francesco Gavazzi, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 18, 2020
Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiencySilvia Masnada, Cecilia Parazzini, Paolo Bini, et al.
Journal of Human Genetics|March 14, 2018
Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysisAlessia Catania, Anna Ardissone, Daniela Verrigni, et al.
Molecular Genetics and Metabolism|July 4, 2012
Neurotransmitter abnormalities and response to supplementation in SPG11Adeline Vanderver, Davide Tonduti, Sarah Auerbach, et al.
Molecular Genetics and Metabolism|December 5, 2025
Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypesTiziana Bachetti, Ylenia Vaia, Alice Grossi, et al.
Orphanet Journal of Rare Diseases|April 5, 2018
KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literatureAnna Ardissone, Davide Tonduti, Andrea Legati, et al.
Molecular Genetics and Metabolism|December 6, 2021
Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patientsEleonora Mura, Francesco Nicita, Silvia Masnada, et al.
Stem Cell Research|June 9, 2024
Production of an induced pluripotent stem cell line CSSi018-A (14192) from a patient with hypomyelinating leukodystrophy 7 (HLD7) carrying biallelic variants of POLR3A (c.1802 T > A; c.4072G > A)Alessia Casamassa, Giovannina Rotundo, Chiara Ceresoni, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 9, 2015
TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patientsDavide Tonduti, Chiara Aiello, Florence Renaldo, et al.
Scientific Reports|August 12, 2021
Neurodevelopmental outcome of preterm very low birth weight infants admitted to an Italian tertiary center over an 11-year periodStefania Longo, Camilla Caporali, Camilla Pisoni, et al.
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