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Archives of Neurology
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February 8, 2012
Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation
Roberta La Piana, Adeline Vanderver, Marjo van der Knaap, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
November 11, 2022
Identification of PMD subgroups using a myelination score for PMD
Inga Harting, Sven F Garbade, Stefan D Rosendaal, et al.
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.
Journal of Neuropathology and Experimental Neurology
|
December 18, 2012
More than hypomyelination in Pol-III disorder
Adeline Vanderver, Davide Tonduti, Genevieve Bernard, et al.
Clinical Chemistry
|
September 13, 2005
Decreased asialotransferrin in cerebrospinal fluid of patients with childhood-onset ataxia and central nervous system hypomyelination/vanishing white matter disease
Adeline Vanderver, Raphael Schiffmann, Margaret Timmons, et al.
Stem Cell Research
|
April 1, 2023
Generation of three induced Pluripotent Stem Cell lines from individuals with Hypomyelination with Atrophy of Basal Ganglia and Cerebellum caused by a c.745G>A (p.D249N) autosomal dominant mutation in TUBB4A
Akshata A Almad, Luis Garcia, Asako Takanohashi, et al.
Pediatric Neurology
|
July 5, 2011
MRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiency
Nicholas Ah Mew, Johanna B Loewenstein, Nadja Kadom, et al.
Movement Disorders Clinical Practice
|
March 7, 2019
Dystonia in RNA Polymerase III-Related Leukodystrophy
Ghalia Al Yazidi, Luan T Tran, Kether Guerrero, et al.
Journal of Child Neurology
|
October 10, 2013
Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies
Roberta La Piana, Davide Tonduti, Heather Gordish Dressman, et al.
JIMD Reports
|
February 20, 2020
Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease
Carolyn Bursle, Eppie M Yiu, Alison Yeung, et al.
Page
of 22
Search research articles
Search
Showing results (31-40 of 217) with videos related to
Sort By:
Page
of 22
Archives of Neurology
|
February 8, 2012
Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation
Roberta La Piana, Adeline Vanderver, Marjo van der Knaap, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
November 11, 2022
Identification of PMD subgroups using a myelination score for PMD
Inga Harting, Sven F Garbade, Stefan D Rosendaal, et al.
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.
Journal of Neuropathology and Experimental Neurology
|
December 18, 2012
More than hypomyelination in Pol-III disorder
Adeline Vanderver, Davide Tonduti, Genevieve Bernard, et al.
Clinical Chemistry
|
September 13, 2005
Decreased asialotransferrin in cerebrospinal fluid of patients with childhood-onset ataxia and central nervous system hypomyelination/vanishing white matter disease
Adeline Vanderver, Raphael Schiffmann, Margaret Timmons, et al.
Stem Cell Research
|
April 1, 2023
Generation of three induced Pluripotent Stem Cell lines from individuals with Hypomyelination with Atrophy of Basal Ganglia and Cerebellum caused by a c.745G>A (p.D249N) autosomal dominant mutation in TUBB4A
Akshata A Almad, Luis Garcia, Asako Takanohashi, et al.
Pediatric Neurology
|
July 5, 2011
MRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiency
Nicholas Ah Mew, Johanna B Loewenstein, Nadja Kadom, et al.
Movement Disorders Clinical Practice
|
March 7, 2019
Dystonia in RNA Polymerase III-Related Leukodystrophy
Ghalia Al Yazidi, Luan T Tran, Kether Guerrero, et al.
Journal of Child Neurology
|
October 10, 2013
Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies
Roberta La Piana, Davide Tonduti, Heather Gordish Dressman, et al.
JIMD Reports
|
February 20, 2020
Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease
Carolyn Bursle, Eppie M Yiu, Alison Yeung, et al.
Page
of 22