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Molecular Psychiatry
|
December 22, 2023
TREX1 is required for microglial cholesterol homeostasis and oligodendrocyte terminal differentiation in human neural assembloids
Gabriela Goldberg, Luisa Coelho, Guoya Mo, et al.
Journal of Inherited Metabolic Disease
|
February 29, 2024
Nucleotide metabolism, leukodystrophies, and CNS pathology
Francesco Gavazzi, Carlos Dominguez Gonzalez, Kaley Arnold, et al.
Journal of Child Neurology
|
May 22, 2025
Experiences and Hope in Caregivers of Children With Aicardi Goutières Syndrome
Francesco Gavazzi, Ashley Martin, Anjana Sevagamoorthy, et al.
Journal of Child Neurology
|
October 8, 2024
Determination of Health Concepts in β-Propeller Protein-Associated Neurodegeneration
Emma Kotes, Francesco Gavazzi, Sarah Woidill, et al.
Neurology. Genetics
|
October 7, 2024
Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy
Alexandra B Kornbluh, Aaron Baldwin, Ali Fatemi, et al.
JCI Insight
|
June 17, 2024
IFN-signaling gene expression as a diagnostic biomarker for monogenic interferonopathies
Laura A Adang, Russell D'Aiello, Asako Takanohashi, et al.
Journal of Child Neurology
|
May 14, 2025
Exploration Into Lived Experiences of Multiple Sulfatase Deficiency-Affected Individuals and Their Families
Francesco Gavazzi, Emily Yu, Zarrin Tashnim, et al.
American Journal of Medical Genetics. Part A
|
April 27, 2018
Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy
Amy Pizzino, Matthew Whitehead, Parisa Sabet Rasekh, et al.
Molecular Genetics and Metabolism
|
April 14, 2020
Development of a neurologic severity scale for Aicardi Goutières Syndrome
Laura A Adang, Francesco Gavazzi, Abbas F Jawad, et al.
Molecular Genetics and Metabolism
|
April 15, 2022
Corrigendum to "Development of a neurologic severity scale for Aicardi Goutières Syndrome" [Mol Genet Metab. 2020 Jun;130(2):153-160. PMID: 32279991]
Laura A Adang, Francesco Gavazzi, Abbas F Jawad, et al.
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of 5
Search research articles
Search
Showing results (11-20 of 49) with videos related to
Sort By:
Page
of 5
Molecular Psychiatry
|
December 22, 2023
TREX1 is required for microglial cholesterol homeostasis and oligodendrocyte terminal differentiation in human neural assembloids
Gabriela Goldberg, Luisa Coelho, Guoya Mo, et al.
Journal of Inherited Metabolic Disease
|
February 29, 2024
Nucleotide metabolism, leukodystrophies, and CNS pathology
Francesco Gavazzi, Carlos Dominguez Gonzalez, Kaley Arnold, et al.
Journal of Child Neurology
|
May 22, 2025
Experiences and Hope in Caregivers of Children With Aicardi Goutières Syndrome
Francesco Gavazzi, Ashley Martin, Anjana Sevagamoorthy, et al.
Journal of Child Neurology
|
October 8, 2024
Determination of Health Concepts in β-Propeller Protein-Associated Neurodegeneration
Emma Kotes, Francesco Gavazzi, Sarah Woidill, et al.
Neurology. Genetics
|
October 7, 2024
Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy
Alexandra B Kornbluh, Aaron Baldwin, Ali Fatemi, et al.
JCI Insight
|
June 17, 2024
IFN-signaling gene expression as a diagnostic biomarker for monogenic interferonopathies
Laura A Adang, Russell D'Aiello, Asako Takanohashi, et al.
Journal of Child Neurology
|
May 14, 2025
Exploration Into Lived Experiences of Multiple Sulfatase Deficiency-Affected Individuals and Their Families
Francesco Gavazzi, Emily Yu, Zarrin Tashnim, et al.
American Journal of Medical Genetics. Part A
|
April 27, 2018
Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy
Amy Pizzino, Matthew Whitehead, Parisa Sabet Rasekh, et al.
Molecular Genetics and Metabolism
|
April 14, 2020
Development of a neurologic severity scale for Aicardi Goutières Syndrome
Laura A Adang, Francesco Gavazzi, Abbas F Jawad, et al.
Molecular Genetics and Metabolism
|
April 15, 2022
Corrigendum to "Development of a neurologic severity scale for Aicardi Goutières Syndrome" [Mol Genet Metab. 2020 Jun;130(2):153-160. PMID: 32279991]
Laura A Adang, Francesco Gavazzi, Abbas F Jawad, et al.
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of 5