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Pediatric Neurology
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March 19, 2025
POLR3-Related Leukodystrophy: A Qualitative Study on Parents' Experiences With the Health Care System
Adam Le, Kelly-Ann Thibault, Pouneh Amir Yazdani, et al.
Journal of Child Neurology
|
March 27, 2024
Characterization of Fine Motor and Visual Motor Skills in Aicardi-Goutières Syndrome
Stacy V Cusack, Francesco Gavazzi, Isabella Peixoto de Barcelos, et al.
American Journal of Medical Genetics. Part A
|
September 25, 2014
ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination
Laila Shehata, Dimitre R Simeonov, Anja Raams, et al.
Neuropediatrics
|
June 1, 2017
4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System
Suzanne Vrij-van den Bos, Janna A Hol, Roberta La Piana, et al.
Human Molecular Genetics
|
October 4, 2017
TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes
Julian Curiel, Guillermo Rodríguez Bey, Asako Takanohashi, et al.
Molecular Genetics and Metabolism
|
November 5, 2022
SARS-CoV-2 mRNA-based vaccines in the Aicardi Goutières Syndrome
Asako Takanohashi, Mohamad-Gabriel Alameh, Sarah Woidill, et al.
Molecular Genetics and Metabolism
|
March 5, 2026
Design of a Pediatric Low Motor Function Item Battery in leukodystrophies
Francesco Gavazzi, Sarah Woidill, Anjana Sevagamoorthy, et al.
Orphanet Journal of Rare Diseases
|
April 29, 2026
Rigorous genetic diagnosis review in natural history studies
Amy Pizzino, Kaley Arnold, Emma Wiener, et al.
Annals of Clinical and Translational Neurology
|
May 22, 2023
Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophy
Murtadha Al-Saady, Shanice Beerepoot, Bonnie C Plug, et al.
Cell
|
April 11, 2015
Ubiquitous L1 mosaicism in hippocampal neurons
Kyle R Upton, Daniel J Gerhardt, J Samuel Jesuadian, et al.
Page
of 22
Search research articles
Search
Showing results (101-110 of 217) with videos related to
Sort By:
Page
of 22
Pediatric Neurology
|
March 19, 2025
POLR3-Related Leukodystrophy: A Qualitative Study on Parents' Experiences With the Health Care System
Adam Le, Kelly-Ann Thibault, Pouneh Amir Yazdani, et al.
Journal of Child Neurology
|
March 27, 2024
Characterization of Fine Motor and Visual Motor Skills in Aicardi-Goutières Syndrome
Stacy V Cusack, Francesco Gavazzi, Isabella Peixoto de Barcelos, et al.
American Journal of Medical Genetics. Part A
|
September 25, 2014
ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination
Laila Shehata, Dimitre R Simeonov, Anja Raams, et al.
Neuropediatrics
|
June 1, 2017
4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System
Suzanne Vrij-van den Bos, Janna A Hol, Roberta La Piana, et al.
Human Molecular Genetics
|
October 4, 2017
TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes
Julian Curiel, Guillermo Rodríguez Bey, Asako Takanohashi, et al.
Molecular Genetics and Metabolism
|
November 5, 2022
SARS-CoV-2 mRNA-based vaccines in the Aicardi Goutières Syndrome
Asako Takanohashi, Mohamad-Gabriel Alameh, Sarah Woidill, et al.
Molecular Genetics and Metabolism
|
March 5, 2026
Design of a Pediatric Low Motor Function Item Battery in leukodystrophies
Francesco Gavazzi, Sarah Woidill, Anjana Sevagamoorthy, et al.
Orphanet Journal of Rare Diseases
|
April 29, 2026
Rigorous genetic diagnosis review in natural history studies
Amy Pizzino, Kaley Arnold, Emma Wiener, et al.
Annals of Clinical and Translational Neurology
|
May 22, 2023
Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophy
Murtadha Al-Saady, Shanice Beerepoot, Bonnie C Plug, et al.
Cell
|
April 11, 2015
Ubiquitous L1 mosaicism in hippocampal neurons
Kyle R Upton, Daniel J Gerhardt, J Samuel Jesuadian, et al.
Page
of 22