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Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 735, doi. 10.3233/JND-240014
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- Article
Peroxisome Metabolism Contributes to PIEZO2-Mediated Mechanical Allodynia.
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- Cells (2073-4409), 2022, v. 11, n. 11, p. 1842, doi. 10.3390/cells11111842
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- Article
Hematopoietic stem-cell gene therapy is associated with restored white matter microvascular function in cerebral adrenoleukodystrophy.
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- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37262-w
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- Article
Development of an Infantile GM2 Clinical Rating Scale: Remote Assessment of Clinically Meaningful Health-Related Function.
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- Journal of Child Neurology, 2024, v. 39, n. 5/6, p. 161, doi. 10.1177/08830738241246703
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- Article
Overexpression of the Wild-Type SPT1 Subunit LowersDesoxysphingolipid Levels and Rescues the Phenotype of HSAN1.
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- Journal of Neuroscience, 2009, v. 29, n. 46, p. 14646, doi. 10.1523/JNEUROSCI.2536-09.2009
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- Article
Cerebral White Matter.
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- Annals of the New York Academy of Sciences, 2008, v. 1142, p. 266, doi. 10.1196/annals.1444.017
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- Article
Adenoassociated Virus Serotype 9-Mediated Gene Therapy for X-Linked Adrenoleukodystrophy.
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- Molecular Therapy, 2015, v. 23, n. 5, p. 824, doi. 10.1038/mt.2015.6
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- Article
ABCD1 dysfunction alters white matter microvascular perfusion.
- Published in:
- 2017
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- Publication type:
- journal article
Role of Basal Forebrain Neurons in Adrenomyeloneuropathy in Mice and Humans.
- Published in:
- Annals of Neurology, 2024, v. 95, n. 3, p. 442, doi. 10.1002/ana.26849
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- Article
Microglial dysfunction as a key pathological change in adrenomyeloneuropathy.
- Published in:
- 2017
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- Publication type:
- journal article
Peroxisomal very long-chain fatty acid transport is targeted by herpesviruses and the antiviral host response.
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- Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03867-y
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- Article
Substrate Availability of Mutant SPT Alters Neuronal Branching and Growth Cone Dynamics in Dorsal Root Ganglia.
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- Journal of Neuroscience, 2015, v. 35, n. 40, p. 13713, doi. 10.1523/JNEUROSCI.1403-15.2015
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- Article
Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy.
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- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 11, p. e1306, doi. 10.1210/clinem/dgad286
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- Publication type:
- Article
Clinical and imaging predictors of late‐onset GM2 gangliosidosis: A scoping review.
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- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 1, p. 207, doi. 10.1002/acn3.51947
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- Publication type:
- Article
Neurofilament light chain as a potential biomarker for monitoring neurodegeneration in X-linked adrenoleukodystrophy.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-22114-2
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- Article
The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03083-3
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- Article
Altered sphingoid base profiles in type 1 compared to type 2 diabetes.
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- Lipids in Health & Disease, 2014, v. 13, p. 1
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- Publication type:
- Article
Metabolic rerouting via SCD1 induction impacts X-linked adrenoleukodystrophy.
- Published in:
- 2021
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- Publication type:
- journal article
Oral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1.
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- 2011
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- Publication type:
- journal article
Natural history of neurological abnormalities in cerebrotendinous xanthomatosis.
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- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 647, doi. 10.1007/s10545-018-0152-9
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- Article
Position dependent changes of cerebral blood flow velocities in premature infants.
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- 2001
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- Publication type:
- journal article
The Changing Face of Adrenoleukodystrophy.
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- Endocrine Reviews, 2020, v. 41, n. 4, p. 577, doi. 10.1210/endrev/bnaa013
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- Article
Imaging Cerebral Gene Transcripts in Live Animals.
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- Journal of Neuroscience, 2007, v. 27, n. 3, p. 713, doi. 10.1523/JNEUROSCI.4660-06.2007
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- Publication type:
- Article
The Effect of Cigarette Smoking on Diabetic Peripheral Neuropathy: A Systematic Review and Meta-Analysis.
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- JGIM: Journal of General Internal Medicine, 2015, v. 30, n. 8, p. 1193, doi. 10.1007/s11606-015-3354-y
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- Article
CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids.
- Published in:
- 2016
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- Publication type:
- journal article
Brain endothelial dysfunction in cerebral adrenoleukodystrophy.
- Published in:
- 2015
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- Publication type:
- journal article
Hypoperfusion predicts lesion progression in cerebral X-linked adrenoleukodystrophy.
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- Brain: A Journal of Neurology, 2012, v. 135, n. 9, p. 2676, doi. 10.1093/brain/aws206
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- Publication type:
- Article
Neonatal adrenoleukodystrophy with long-term survival.
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- FASEB Journal, 2007, v. 21, n. 5, p. A401, doi. 10.1096/fasebj.21.5.a401-c
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- Publication type:
- Article
The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis.
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- Application of Clinical Genetics, 2015, v. 8, p. 109, doi. 10.2147/TACG.S49590
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- Article
The natural history of Canavan disease: 23 new cases and comparison with patients from literature.
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- 2021
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- Publication type:
- journal article
Beyond gait and balance: urinary and bowel dysfunction in X-linked adrenoleukodystrophy.
- Published in:
- 2021
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- Publication type:
- journal article
Feasibility of simultaneous high‐resolution anatomical and quantitative magnetic resonance imaging of sciatic nerves in patients with Charcot–Marie–Tooth type 1A (CMT1A) at 7T.
- Published in:
- Muscle & Nerve, 2022, v. 66, n. 2, p. 206, doi. 10.1002/mus.27647
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- Publication type:
- Article
Longitudinal dysphagia assessment in adult patients with nephropathic cystinosis using the Modified Barium Swallow Impairment Profile.
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- Muscle & Nerve, 2022, v. 66, n. 2, p. 223, doi. 10.1002/mus.27642
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- Article
Clinical trial readiness study of distal myopathy and dysphagia in nephropathic cystinosis.
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- Muscle & Nerve, 2020, v. 62, n. 6, p. 681, doi. 10.1002/mus.27039
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- Article
Clinical myopathy in patients with nephropathic cystinosis.
- Published in:
- 2020
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- Publication type:
- journal article
Natural history and biomarkers in hereditary sensory neuropathy type 1.
- Published in:
- Muscle & Nerve, 2015, v. 51, n. 4, p. 489, doi. 10.1002/mus.24336
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- Article
Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy.
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- Annals of Neurology, 2012, v. 71, n. 4, p. 520, doi. 10.1002/ana.22685
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- Publication type:
- Article
Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy?
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- Annals of Neurology, 2008, v. 63, n. 6, p. 729, doi. 10.1002/ana.21391
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- Publication type:
- Article
The Natural History of Adrenal Insufficiency in X-Linked Adrenoleukodystrophy: An International Collaboration.
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- Journal of Clinical Endocrinology & Metabolism, 2019, v. 104, n. 1, p. 118, doi. 10.1210/jc.2018-01307
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- Publication type:
- Article
The Natural History of Adrenal Insufficiency in X-Linked Adrenoleukodystrophy: An International Collaboration.
- Published in:
- 2018
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- Publication type:
- journal article
Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Review of Clinical Manifestations as Foundations for Therapeutic Development.
- Published in:
- Frontiers in Neurology, 2022, v. 12, p. 1, doi. 10.3389/fneur.2021.788168
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- Article
Gait Difficulties and Postural Instability in Adrenoleukodystrophy.
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- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.684102
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- Publication type:
- Article
Metachromatic Leukodystrophy.
- Published in:
- Journal of Child Neurology, 2016, v. 31, n. 13, p. 1457, doi. 10.1177/0883073816656401
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- Article
Metachromatic Leukodystrophy: A Case of Triplets With the Late Infantile Variant and a Systematic Review of the Literature.
- Published in:
- Journal of Child Neurology, 2010, v. 25, n. 5, p. 572, doi. 10.1177/0883073809341669
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- Publication type:
- Article
Proton Magnetic Resonance Spectroscopy and Diffusion-Weighted Imaging in Isolated Sulfite Oxidase Deficiency.
- Published in:
- Journal of Child Neurology, 2006, v. 21, n. 9, p. 801, doi. 10.1177/08830738060210090601
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- Publication type:
- Article
The natural history of Canavan disease: 23 new cases and comparison with patients from literature.
- Published in:
- Orphanet Journal of Rare Diseases, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13023-020-01659-3
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- Publication type:
- Article