selected publications
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International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach.
Neurology.
2022
Academic Article
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Times cited: 7 - Presymptomatic Lesion in Childhood Cerebral Adrenoleukodystrophy: Timing and Treatment. Neurology. 2022 Academic Article GET IT
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TLR7 gain-of-function genetic variation causes human lupus.
Nature.
2022
Academic Article
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Times cited: 80 -
Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy.
Cells.
2022
Academic Article
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Times cited: 275 -
A Longitudinal Analysis of Early Lesion Growth in Presymptomatic Patients with Cerebral Adrenoleukodystrophy.
AJNR. American journal of neuroradiology.
2021
Academic Article
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Times cited: 3 -
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.
2021
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Times cited: 2 -
MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines.
2021
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Times cited: 32 -
Practical Approaches and Knowledge Gaps in the Care for Children With Leukodystrophies.
Journal of child neurology.
2020
Review
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Times cited: 4 -
Clinical and radiographic course of arrested cerebral adrenoleukodystrophy.
Neurology.
2020
Academic Article
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Times cited: 19 -
The Landscape of Hematopoietic Stem Cell Transplant and Gene Therapy for X-Linked Adrenoleukodystrophy.
Current treatment options in neurology.
2019
Review
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Times cited: 23 -
Pearls & Oy-sters: Adolescent-onset adrenomyeloneuropathy and arrested cerebral adrenoleukodystrophy.
2019
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Times cited: 8 -
MRI brain lesions in asymptomatic boys with X-linked adrenoleukodystrophy.
Neurology.
2019
Academic Article
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Times cited: 36 -
Erratum: hyperhomocysteinemia and neurologic disorders: a review.
Journal of clinical neurology (Seoul, Korea).
2015
Article
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Times cited: 1 -
Hyperhomocysteinemia and neurologic disorders: a review.
Journal of clinical neurology (Seoul, Korea).
2014
Review
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Times cited: 149