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Showing results (121-130 of 217) with videos related to
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Neurology. Genetics
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February 7, 2022
Therapy Trial Design in Vanishing White Matter: An Expert Consortium Opinion
Marjo S van der Knaap, Joshua L Bonkowsky, Adeline Vanderver, et al.
Brain : a Journal of Neurology
|
May 3, 2014
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation
Eline M Hamilton, Emiel Polder, Adeline Vanderver, et al.
Journal of Child Neurology
|
October 21, 2024
Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot Study
Laura Lentini, Helia Toutounchi, Alexandra Chapleau, et al.
Neurology
|
April 5, 2013
NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern
Sietske H Kevelam, Richard J Rodenburg, Nicole I Wolf, et al.
Human Molecular Genetics
|
May 2, 2020
De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment
Debdeep Dutta, Lauren C Briere, Oguz Kanca, et al.
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.
AJNR. American Journal of Neuroradiology
|
April 10, 2025
Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients
Cesar A P F Alves, Maria Camilla Rossi-Espagnet, Francisco Perez, 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.
Molecular Genetics and Metabolism
|
July 5, 2022
Hematologic abnormalities in Aicardi Goutières Syndrome
Laura A Adang, Francesco Gavazzi, Russell D'Aiello, et al.
Molecular Genetics and Metabolism
|
February 5, 2015
Case definition and classification of leukodystrophies and leukoencephalopathies
Adeline Vanderver, Morgan Prust, Davide Tonduti, et al.
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of 22
Search research articles
Search
Showing results (121-130 of 217) with videos related to
Sort By:
Page
of 22
Neurology. Genetics
|
February 7, 2022
Therapy Trial Design in Vanishing White Matter: An Expert Consortium Opinion
Marjo S van der Knaap, Joshua L Bonkowsky, Adeline Vanderver, et al.
Brain : a Journal of Neurology
|
May 3, 2014
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation
Eline M Hamilton, Emiel Polder, Adeline Vanderver, et al.
Journal of Child Neurology
|
October 21, 2024
Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot Study
Laura Lentini, Helia Toutounchi, Alexandra Chapleau, et al.
Neurology
|
April 5, 2013
NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern
Sietske H Kevelam, Richard J Rodenburg, Nicole I Wolf, et al.
Human Molecular Genetics
|
May 2, 2020
De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment
Debdeep Dutta, Lauren C Briere, Oguz Kanca, et al.
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.
AJNR. American Journal of Neuroradiology
|
April 10, 2025
Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients
Cesar A P F Alves, Maria Camilla Rossi-Espagnet, Francisco Perez, 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.
Molecular Genetics and Metabolism
|
July 5, 2022
Hematologic abnormalities in Aicardi Goutières Syndrome
Laura A Adang, Francesco Gavazzi, Russell D'Aiello, et al.
Molecular Genetics and Metabolism
|
February 5, 2015
Case definition and classification of leukodystrophies and leukoencephalopathies
Adeline Vanderver, Morgan Prust, Davide Tonduti, et al.
Page
of 22