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Molecular Genetics and Metabolism
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February 18, 2024
Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS)
Isabella Peixoto de Barcelos, Sarah Woidill, Francesco Gavazzi, et al.
Molecular Genetics and Metabolism
|
December 29, 2024
Characterization of gallbladder disease in metachromatic leukodystrophy across the lifespan
Sylvia Mutua, Anjana Sevagamoorthy, Sarah Woidill, et al.
Developmental Medicine and Child Neurology
|
April 30, 2026
Performance outcomes of the PEDI-CAT for assessing functional ability in the population with leukodystrophy
Stacy V Cusack, Allan M Glanzman, Francesco Gavazzi, et al.
Annals of Clinical and Translational Neurology
|
January 9, 2026
Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease
Amy T Waldman, Asako Takanohashi, Joshua Y Joung, et al.
Neuropediatrics
|
January 14, 2021
Hepatic Involvement in Aicardi-Goutières Syndrome
Francesco Gavazzi, Zachary M Cross, Sarah Woidill, 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.
Journal of Child Neurology
|
September 29, 2020
Cerebral Microangiopathy in Leukoencephalopathy With Cerebral Calcifications and Cysts: A Pathological Description
Guy Helman, Angela N Viaene, Asako Takanohashi, et al.
Stem Cell Research
|
September 7, 2022
Generation of human induced pluripotential stem cells from individuals with complex heterozygous, isogenic corrected, and homozygous Bloc1s1 mutations
Kaiyuan Wu, Asako Takanohashi, Sarah Woidill, 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.
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of 4
Search research articles
Search
Showing results (1-10 of 32) with videos related to
Sort By:
Page
of 4
Molecular Genetics and Metabolism
|
February 18, 2024
Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS)
Isabella Peixoto de Barcelos, Sarah Woidill, Francesco Gavazzi, et al.
Molecular Genetics and Metabolism
|
December 29, 2024
Characterization of gallbladder disease in metachromatic leukodystrophy across the lifespan
Sylvia Mutua, Anjana Sevagamoorthy, Sarah Woidill, et al.
Developmental Medicine and Child Neurology
|
April 30, 2026
Performance outcomes of the PEDI-CAT for assessing functional ability in the population with leukodystrophy
Stacy V Cusack, Allan M Glanzman, Francesco Gavazzi, et al.
Annals of Clinical and Translational Neurology
|
January 9, 2026
Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease
Amy T Waldman, Asako Takanohashi, Joshua Y Joung, et al.
Neuropediatrics
|
January 14, 2021
Hepatic Involvement in Aicardi-Goutières Syndrome
Francesco Gavazzi, Zachary M Cross, Sarah Woidill, 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.
Journal of Child Neurology
|
September 29, 2020
Cerebral Microangiopathy in Leukoencephalopathy With Cerebral Calcifications and Cysts: A Pathological Description
Guy Helman, Angela N Viaene, Asako Takanohashi, et al.
Stem Cell Research
|
September 7, 2022
Generation of human induced pluripotential stem cells from individuals with complex heterozygous, isogenic corrected, and homozygous Bloc1s1 mutations
Kaiyuan Wu, Asako Takanohashi, Sarah Woidill, 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.
Page
of 4