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Adeline Vanderver

Showing results (141-150 of 217) with videos related to

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Journal of Child Neurology|July 27, 2023
Exploration of Gross Motor Function in Aicardi-Goutières SyndromeFrancesco Gavazzi, Allan M Glanzman, Sarah Woidill, et al.
Neurology|April 1, 2016
Diffuse hypomyelination is not obligate for POLR3-related disordersRoberta La Piana, Ferdy K Cayami, Luan T Tran, et al.
Pediatric Neurology|August 14, 2025
Clinical Characterization of a Multicenter International Cohort of Patients With Aicardi-Goutières Syndrome Homozygous for the RNASEH2B:p.Ala177Thr Variant: Early Clinical Markers of Disease SeverityCostanza Varesio, Davide Politano, Laura Adang, 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.
American Journal of Human Genetics|April 16, 2013
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellumCas Simons, Nicole I Wolf, Nathan McNeil, et al.
Molecular Genetics and Metabolism|July 26, 2017
Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spotsThais Armangue, Joseph J Orsini, Asako Takanohashi, et al.
Epilepsia|June 9, 2016
SCN8A encephalopathy: Research progress and prospectsMiriam H Meisler, Guy Helman, Michael F Hammer, et al.
BMC Neurology|August 17, 2023
Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocatesDaphne H Schoenmakers, Prisca S Leferink, Adeline Vanderver, et al.
Pediatric Neurology|November 16, 2016
RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus InfectionNicole Ulrick, Amy Goldstein, Cas Simons, et al.
Neurology|October 24, 2014
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutationsNicole I Wolf, Adeline Vanderver, Rosalina M L van Spaendonk, et al.
Pageof 22

Showing results (141-150 of 217) with videos related to

Sort By:
Pageof 22
Journal of Child Neurology|July 27, 2023
Exploration of Gross Motor Function in Aicardi-Goutières SyndromeFrancesco Gavazzi, Allan M Glanzman, Sarah Woidill, et al.
Neurology|April 1, 2016
Diffuse hypomyelination is not obligate for POLR3-related disordersRoberta La Piana, Ferdy K Cayami, Luan T Tran, et al.
Pediatric Neurology|August 14, 2025
Clinical Characterization of a Multicenter International Cohort of Patients With Aicardi-Goutières Syndrome Homozygous for the RNASEH2B:p.Ala177Thr Variant: Early Clinical Markers of Disease SeverityCostanza Varesio, Davide Politano, Laura Adang, 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.
American Journal of Human Genetics|April 16, 2013
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellumCas Simons, Nicole I Wolf, Nathan McNeil, et al.
Molecular Genetics and Metabolism|July 26, 2017
Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spotsThais Armangue, Joseph J Orsini, Asako Takanohashi, et al.
Epilepsia|June 9, 2016
SCN8A encephalopathy: Research progress and prospectsMiriam H Meisler, Guy Helman, Michael F Hammer, et al.
BMC Neurology|August 17, 2023
Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocatesDaphne H Schoenmakers, Prisca S Leferink, Adeline Vanderver, et al.
Pediatric Neurology|November 16, 2016
RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus InfectionNicole Ulrick, Amy Goldstein, Cas Simons, et al.
Neurology|October 24, 2014
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutationsNicole I Wolf, Adeline Vanderver, Rosalina M L van Spaendonk, et al.
Pageof 22