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AJNR. American Journal of Neuroradiology
|
May 2, 2024
Brainstem Chipmunk Sign: A Diagnostic Imaging Clue across All Subtypes of Alexander Disease
Thaís Armangue, Matthew T Whitehead, Davide Tonduti, et al.
Molecular Genetics and Metabolism
|
December 5, 2025
Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypes
Tiziana Bachetti, Ylenia Vaia, Alice Grossi, et al.
Pediatric Neurology
|
October 23, 2025
Critical Functional Domains in Pediatric Onset TUBB4A-Related Leukodystrophy: A Clinical and Caregiver's Perspective
Francesco Gavazzi, Virali Patel, Jacqueline A Erler, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
January 3, 2026
Megalencephalic leukoencephalopathy with subcortical cysts: a multicenter Italian experience
Jacopo Sartorelli, Davide Tonduti, Elena Ambrosini, et al.
Cell Communication and Signaling : CCS
|
February 3, 2026
Study of POLR3A variants in a family trio suggests mutation-specific pathogenetic mechanisms: insights from integrative OMIC approaches
Federica Rey, Alessia Casamassa, Samuele Di Cristofano, et al.
International Journal of Neonatal Screening
|
October 24, 2025
Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study
Eleonora Bonaventura, Fabio Bruschi, Luisella Alberti, et al.
Molecular Genetics and Metabolism
|
May 23, 2026
Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD)
Anjana Sevagamoorthy, Sarah Woidill, Gabrielle Sudilovsky, et al.
Neurology
|
June 10, 2024
Nonverbal Cognitive Skills in Children With Aicardi Goutières Syndrome
Francesco Gavazzi, Ylenia Vaia, Sarah Woidill, et al.
Molecular Genetics and Metabolism
|
June 18, 2026
Neuroradiological patterns and prognostic implications in type I Alexander disease
Ylenia Vaia, Filippo Arrigoni, Liat Ben Sira, et al.
Molecular Genetics and Metabolism
|
March 23, 2026
Efficacy of JAK1/2 inhibitors in AGS genes-related interferonopathies: A multicenter retrospective observational study with treated vs untreated comparison
Gemma Marinella, Ylenia Vaia, Davide Politano, et al.
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Search research articles
Search
Showing results (11-20 of 21) with videos related to
Sort By:
Page
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AJNR. American Journal of Neuroradiology
|
May 2, 2024
Brainstem Chipmunk Sign: A Diagnostic Imaging Clue across All Subtypes of Alexander Disease
Thaís Armangue, Matthew T Whitehead, Davide Tonduti, et al.
Molecular Genetics and Metabolism
|
December 5, 2025
Genotype-phenotype correlations of GFAP variants in type I Alexander disease subtypes
Tiziana Bachetti, Ylenia Vaia, Alice Grossi, et al.
Pediatric Neurology
|
October 23, 2025
Critical Functional Domains in Pediatric Onset TUBB4A-Related Leukodystrophy: A Clinical and Caregiver's Perspective
Francesco Gavazzi, Virali Patel, Jacqueline A Erler, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
January 3, 2026
Megalencephalic leukoencephalopathy with subcortical cysts: a multicenter Italian experience
Jacopo Sartorelli, Davide Tonduti, Elena Ambrosini, et al.
Cell Communication and Signaling : CCS
|
February 3, 2026
Study of POLR3A variants in a family trio suggests mutation-specific pathogenetic mechanisms: insights from integrative OMIC approaches
Federica Rey, Alessia Casamassa, Samuele Di Cristofano, et al.
International Journal of Neonatal Screening
|
October 24, 2025
Newborn Screening of X-Linked Adrenoleukodystrophy in Italy: Clinical and Biochemical Outcomes from a 4-Year Pilot Study
Eleonora Bonaventura, Fabio Bruschi, Luisella Alberti, et al.
Molecular Genetics and Metabolism
|
May 23, 2026
Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD)
Anjana Sevagamoorthy, Sarah Woidill, Gabrielle Sudilovsky, et al.
Neurology
|
June 10, 2024
Nonverbal Cognitive Skills in Children With Aicardi Goutières Syndrome
Francesco Gavazzi, Ylenia Vaia, Sarah Woidill, et al.
Molecular Genetics and Metabolism
|
June 18, 2026
Neuroradiological patterns and prognostic implications in type I Alexander disease
Ylenia Vaia, Filippo Arrigoni, Liat Ben Sira, et al.
Molecular Genetics and Metabolism
|
March 23, 2026
Efficacy of JAK1/2 inhibitors in AGS genes-related interferonopathies: A multicenter retrospective observational study with treated vs untreated comparison
Gemma Marinella, Ylenia Vaia, Davide Politano, et al.
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of 3