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Clinical and radiographic course of arrested cerebral adrenoleukodystrophy

Neurology, 2020-06, Vol.94 (24), p.e2499

2020

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Neurofilament light chain as a potential biomarker for monitoring neurodegeneration in X-linked adrenoleukodystrophy

Nature communications, 2021-03, Vol.12 (1), p.1816-10, Article 1816

2021

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A seed sequence variant in miR-145-5p causes multisystem smooth muscle dysfunction syndrome

The Journal of clinical investigation, 2023-03, Vol.133 (5), p.1-3

2023

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Hematopoietic stem-cell gene therapy is associated with restored white matter microvascular function in cerebral adrenoleukodystrophy

Nature communications, 2023-04, Vol.14 (1), p.1900-10, Article 1900

2023

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Burden of Stroke and Population-Attributable Fractions of Risk Factors in Latin America and the Caribbean

Journal of the American Heart Association, 2022-11, Vol.11 (21), p.e027044

2022

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Co-occurring pathogenic variants in 6q27 associated with dementia spectrum disorders in a Peruvian family

Frontiers in molecular neuroscience, 2023-02, Vol.16, p.1104585-1104585

2023

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Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy

The New England journal of medicine, 2017-10, Vol.377 (17), p.1630-1638

2017

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MRI brain lesions in asymptomatic boys with X-linked adrenoleukodystrophy

Neurology, 2019-04, Vol.92 (15), p.e1698

2019

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Teaching NeuroImage: Needle-like Occipital Spikes in Children With Visual Impairment

Neurology, 2022-09, Vol.99 (12), p.537-538

2022

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Monogenic Causes of Cerebrovascular Disease in Childhood: A Case Series

Pediatric neurology, 2023-12, Vol.149, p.39-43

2023

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Cerebrovascular Disease Progression in Patients With ACTA2 Arg179 Pathogenic Variants

Neurology, 2021-01, Vol.96 (4), p.e538

2021

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The brain penetrant PPARγ agonist leriglitazone restores multiple altered pathways in models of X-linked adrenoleukodystrophy

Science translational medicine, 2021-06, Vol.13 (596)

2021

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Diffuse microvascular dysfunction and loss of white matter integrity predict poor outcomes in patients with acute ischemic stroke

Journal of cerebral blood flow and metabolism, 2018-01, Vol.38 (1), p.75-86

2018

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Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy

The New England journal of medicine, 2024-10, Vol.391 (14), p.1302-1312

2024

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Brain endothelial dysfunction in cerebral adrenoleukodystrophy

Brain (London, England : 1878), 2015-11, Vol.138 (Pt 11), p.3206-3220

2015

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An Engineered Adeno-Associated Virus Capsid Mediates Efficient Transduction of Pericytes and Smooth Muscle Cells of the Brain Vasculature

Human gene therapy, 2023-08, Vol.34 (15-16), p.682-696

2023

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Cerebral arteriopathy and ischemic stroke in a pediatric MYH11 patient

Journal of stroke and cerebrovascular diseases, 2023-03, Vol.32 (3), p.106938-106938, Article 106938

2023

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The Genetic Landscape of Ischemic Stroke in Children - Current Knowledge and Future Perspectives

Seminars in pediatric neurology, 2022-12, Vol.44, p.100999-100999, Article 100999

2022

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ABCD1 dysfunction alters white matter microvascular perfusion

Brain (London, England : 1878), 2017-12, Vol.140 (12), p.3139-3152

2017

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Hematopoietic stem cell transplantation in the leukodystrophies: a systematic review of the literature

Neuropediatrics, 2014-06, Vol.45 (3), p.169-174

2014

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Leptomeningeal transthyretin-type amyloidosis presenting as acute hydrocephalus and subarachnoid hemorrhage

Journal of clinical neuroscience, 2016-07, Vol.29, p.203-205

2016

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Signaling cascade of insulin-induced stimulation of L-dopa uptake in renal proximal tubule cells

American Journal of Physiology: Cell Physiology, 2008-12, Vol.295 (6), p.C1602-C1609

2008

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Abstract TP156: Neurological Outcomes After Perinatal Stroke: A Single Center Cohort Study

Stroke (1970), 2023-02, Vol.54 (Suppl_1)

2023

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Abstract TP158: Hemiparesis May Predict The Development Of Epilepsy In Children With Perinatal Stroke

Stroke (1970), 2023-02, Vol.54 (Suppl_1)

2023

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Clinical and radiographic course of arrested cerebral adrenoleukodystrophy

Neurofilament light chain as a potential biomarker for monitoring neurodegeneration in X-linked adrenoleukodystrophy

A seed sequence variant in miR-145-5p causes multisystem smooth muscle dysfunction syndrome

Hematopoietic stem-cell gene therapy is associated with restored white matter microvascular function in cerebral adrenoleukodystrophy

Burden of Stroke and Population-Attributable Fractions of Risk Factors in Latin America and the Caribbean

Co-occurring pathogenic variants in 6q27 associated with dementia spectrum disorders in a Peruvian family

Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy

MRI brain lesions in asymptomatic boys with X-linked adrenoleukodystrophy

Teaching NeuroImage: Needle-like Occipital Spikes in Children With Visual Impairment

Monogenic Causes of Cerebrovascular Disease in Childhood: A Case Series

Cerebrovascular Disease Progression in Patients With ACTA2 Arg179 Pathogenic Variants

The brain penetrant PPARγ agonist leriglitazone restores multiple altered pathways in models of X-linked adrenoleukodystrophy

Diffuse microvascular dysfunction and loss of white matter integrity predict poor outcomes in patients with acute ischemic stroke

Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy

Brain endothelial dysfunction in cerebral adrenoleukodystrophy

An Engineered Adeno-Associated Virus Capsid Mediates Efficient Transduction of Pericytes and Smooth Muscle Cells of the Brain Vasculature

Clinical Diffusion Mismatch to Select Pediatric Patients for Embolectomy 6 to 24 Hours After Stroke: An Analysis of the Save ChildS Study

Cerebral arteriopathy and ischemic stroke in a pediatric MYH11 patient

The Genetic Landscape of Ischemic Stroke in Children - Current Knowledge and Future Perspectives

ABCD1 dysfunction alters white matter microvascular perfusion

Hematopoietic stem cell transplantation in the leukodystrophies: a systematic review of the literature

Leptomeningeal transthyretin-type amyloidosis presenting as acute hydrocephalus and subarachnoid hemorrhage

Signaling cascade of insulin-induced stimulation of L-dopa uptake in renal proximal tubule cells

Abstract TP156: Neurological Outcomes After Perinatal Stroke: A Single Center Cohort Study

Abstract TP158: Hemiparesis May Predict The Development Of Epilepsy In Children With Perinatal Stroke

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