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Molecular Genetics and Metabolism
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September 27, 2024
Systemic complications of Aicardi Goutières syndrome using real-world data
Isabella Peixoto de Barcelos, Amanda K Jan, Nicholson Modesti, et al.
Journal of Child Neurology
|
July 18, 2023
Gross Motor Function in Pediatric Onset <i>TUBB4A</i>-Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in <i>TUBB4A</i>
Francesco Gavazzi, Virali Patel, Brittany Charsar, et al.
Pediatric Neurology
|
June 10, 2021
Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy
Guy Helman, Ayelet Zerem, Akshata Almad, et al.
Journal of Child Neurology
|
July 27, 2023
Exploration of Gross Motor Function in Aicardi-Goutières Syndrome
Francesco Gavazzi, Allan M Glanzman, Sarah Woidill, 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.
Molecular Genetics and Metabolism
|
March 24, 2024
Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach
Laura Ann Adang, Anjana Sevagamoorthy, Omar Sherbini, et al.
Neurology
|
June 10, 2024
Nonverbal Cognitive Skills in Children With Aicardi Goutières Syndrome
Francesco Gavazzi, Ylenia Vaia, Sarah Woidill, et al.
Analytical Chemistry
|
January 11, 2020
Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry
Xinying Hong, Arun Babu Kumar, Jessica Daiker, et al.
The New England Journal of Medicine
|
September 3, 2020
Janus Kinase Inhibition in the Aicardi-Goutières Syndrome
Adeline Vanderver, Laura Adang, Francesco Gavazzi, et al.
Annals of the Child Neurology Society
|
August 26, 2025
Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite Study
Emma R Kotes, Sarah Woidill, Russell D'Aiello, et al.
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of 4
Search research articles
Search
Showing results (21-30 of 32) with videos related to
Sort By:
Page
of 4
Molecular Genetics and Metabolism
|
September 27, 2024
Systemic complications of Aicardi Goutières syndrome using real-world data
Isabella Peixoto de Barcelos, Amanda K Jan, Nicholson Modesti, et al.
Journal of Child Neurology
|
July 18, 2023
Gross Motor Function in Pediatric Onset <i>TUBB4A</i>-Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in <i>TUBB4A</i>
Francesco Gavazzi, Virali Patel, Brittany Charsar, et al.
Pediatric Neurology
|
June 10, 2021
Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy
Guy Helman, Ayelet Zerem, Akshata Almad, et al.
Journal of Child Neurology
|
July 27, 2023
Exploration of Gross Motor Function in Aicardi-Goutières Syndrome
Francesco Gavazzi, Allan M Glanzman, Sarah Woidill, 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.
Molecular Genetics and Metabolism
|
March 24, 2024
Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach
Laura Ann Adang, Anjana Sevagamoorthy, Omar Sherbini, et al.
Neurology
|
June 10, 2024
Nonverbal Cognitive Skills in Children With Aicardi Goutières Syndrome
Francesco Gavazzi, Ylenia Vaia, Sarah Woidill, et al.
Analytical Chemistry
|
January 11, 2020
Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry
Xinying Hong, Arun Babu Kumar, Jessica Daiker, et al.
The New England Journal of Medicine
|
September 3, 2020
Janus Kinase Inhibition in the Aicardi-Goutières Syndrome
Adeline Vanderver, Laura Adang, Francesco Gavazzi, et al.
Annals of the Child Neurology Society
|
August 26, 2025
Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite Study
Emma R Kotes, Sarah Woidill, Russell D'Aiello, et al.
Page
of 4