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Showing results (181-190 of 217) with videos related to

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Pediatric Neurology|May 25, 2020
Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated SyndromeHannah Lewis, Debopam Samanta, Jenny-Li Örsell, et al.
Neurology. Genetics|September 25, 2025
Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease: A Diagnostic Blind SpotCarlos A Dominguez Gonzalez, Katrina M Bell, Ramakrishnan Rajagopalan, et al.
Annals of Clinical and Translational Neurology|January 9, 2020
Genome sequencing in persistently unsolved white matter disordersGuy Helman, Bryan R Lajoie, Joanna Crawford, et al.
Cytotherapy|April 13, 2024
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United StatesLaura A Adang, Joshua L Bonkowsky, Jaap Jan Boelens, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|March 22, 2022
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGSKader Cetin Gedik, Lovro Lamot, Micol Romano, et al.
Brain : a Journal of Neurology|February 26, 2016
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearanceCristina Dallabona, Truus E M Abbink, Rosalba Carrozzo, et al.
Annals of the Rheumatic Diseases|January 28, 2022
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGSKader Cetin Gedik, Lovro Lamot, Micol Romano, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 27, 2021
Expanded phenotype of AARS1-related white matter diseaseGuy Helman, Marisa I Mendes, Francesco Nicita, et al.
Human Mutation|May 8, 2013
Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expressionElisa Giorgio, Harshvardhan Rolyan, Laura Kropp, et al.
Medrxiv : the Preprint Server for Health Sciences|June 5, 2026
Normative modeling for quantitative brain MRI phenotyping and biomarker discovery for pediatric leukodystrophiesShivaram Karandikar, Anjana Sevagamoorthy, Dabriel Zimmerman, et al.
Pageof 22

Showing results (181-190 of 217) with videos related to

Sort By:
Pageof 22
Pediatric Neurology|May 25, 2020
Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated SyndromeHannah Lewis, Debopam Samanta, Jenny-Li Örsell, et al.
Neurology. Genetics|September 25, 2025
Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease: A Diagnostic Blind SpotCarlos A Dominguez Gonzalez, Katrina M Bell, Ramakrishnan Rajagopalan, et al.
Annals of Clinical and Translational Neurology|January 9, 2020
Genome sequencing in persistently unsolved white matter disordersGuy Helman, Bryan R Lajoie, Joanna Crawford, et al.
Cytotherapy|April 13, 2024
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United StatesLaura A Adang, Joshua L Bonkowsky, Jaap Jan Boelens, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|March 22, 2022
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGSKader Cetin Gedik, Lovro Lamot, Micol Romano, et al.
Brain : a Journal of Neurology|February 26, 2016
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearanceCristina Dallabona, Truus E M Abbink, Rosalba Carrozzo, et al.
Annals of the Rheumatic Diseases|January 28, 2022
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGSKader Cetin Gedik, Lovro Lamot, Micol Romano, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 27, 2021
Expanded phenotype of AARS1-related white matter diseaseGuy Helman, Marisa I Mendes, Francesco Nicita, et al.
Human Mutation|May 8, 2013
Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expressionElisa Giorgio, Harshvardhan Rolyan, Laura Kropp, et al.
Medrxiv : the Preprint Server for Health Sciences|June 5, 2026
Normative modeling for quantitative brain MRI phenotyping and biomarker discovery for pediatric leukodystrophiesShivaram Karandikar, Anjana Sevagamoorthy, Dabriel Zimmerman, et al.
Pageof 22