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The use of a SOX10 reporter toward ameliorating oligodendrocyte lineage differentiation from human induced pluripotent stem cells.
- Published in:
- Glia, 2024, v. 72, n. 6, p. 1165, doi. 10.1002/glia.24524
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- Publication type:
- Article
Cover Image, Volume 72, Issue 6.
- Published in:
- Glia, 2024, v. 72, n. 6, p. C1, doi. 10.1002/glia.24403
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- Publication type:
- Article
Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia.
- Published in:
- Metabolites (2218-1989), 2022, v. 12, n. 3, p. 262, doi. 10.3390/metabo12030262
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- Publication type:
- Article
Cancer-Associated Fibroblasts in a 3D Engineered Tissue Model Induce Tumor-like Matrix Stiffening and EMT Transition.
- Published in:
- Cancers, 2022, v. 14, n. 15, p. 3810, doi. 10.3390/cancers14153810
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- Publication type:
- Article
Lysophosphatidic acid enhances collagen deposition and matrix thickening in engineered tissue.
- Published in:
- Journal of Tissue Engineering & Regenerative Medicine, 2015, v. 9, n. 11, p. E65, doi. 10.1002/term.1711
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- Publication type:
- Article
Adipose-derived stromal cells for the reconstruction of a human vesical equivalent.
- Published in:
- Journal of Tissue Engineering & Regenerative Medicine, 2015, v. 9, n. 11, p. E135, doi. 10.1002/term.1717
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- Publication type:
- Article
Characterization of a psoriatic skin model produced with involved or uninvolved cells.
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- Journal of Tissue Engineering & Regenerative Medicine, 2015, v. 9, n. 7, p. 789, doi. 10.1002/term.1666
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- Publication type:
- Article
Riluzole partially restores RNA polymerase III complex assembly in cells expressing the leukodystrophy-causative variant POLR3B R103H.
- Published in:
- Molecular Brain, 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13041-022-00974-z
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- Publication type:
- Article
Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome c oxidase deficiency: a case report.
- Published in:
- Frontiers in Cellular Neuroscience, 2023, p. 1, doi. 10.3389/fncel.2023.1216487
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- Publication type:
- Article
A treatable new cause of chorea: Beta-ketothiolase deficiency.
- Published in:
- Movement Disorders, 2013, v. 28, n. 8, p. 1054, doi. 10.1002/mds.25538
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- Publication type:
- Article
Tremor-ataxia with central hypomyelination (TACH): Dystonia as a new clinical feature.
- Published in:
- Movement Disorders, 2012, v. 27, n. 14, p. 1831, doi. 10.1002/mds.25270
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- Publication type:
- Article
Towards a Treatment for Leukodystrophy Using Cell-Based Interception and Precision Medicine.
- Published in:
- Biomolecules (2218-273X), 2024, v. 14, n. 7, p. 857, doi. 10.3390/biom14070857
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- Publication type:
- Article
Demonstration of the direct impact of ketamine on urothelium using a tissue engineered bladder model.
- Published in:
- Canadian Urological Association Journal, 2015, v. 9, n. 9/10, p. E613, doi. 10.5489/cuaj.2899
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- Publication type:
- Article
Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02802-6
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- Publication type:
- Article
Novel Pathogenic Variants in POLR3K Cause POLR3‐Related Leukodystrophy.
- Published in:
- Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/8807171
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- Publication type:
- Article
Altered PLP1 splicing causes hypomyelination of early myelinating structures.
- Published in:
- Annals of Clinical & Translational Neurology, 2015, v. 2, n. 6, p. 648, doi. 10.1002/acn3.203
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- Publication type:
- Article
The 37TrillionCells initiative for improving global healthcare via cell-based interception and precision medicine: focus on neurodegenerative diseases.
- Published in:
- Molecular Brain, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s13041-024-01088-4
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- Publication type:
- Article
Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders.
- Published in:
- 2020
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- Publication type:
- journal article
Whole exome sequencing in patients with white matter abnormalities.
- Published in:
- 2016
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- Publication type:
- journal article
HSD10 mitochondrial disease: p.Leu122Val variant, mild clinical phenotype, and founder effect in French‐Canadian patients from Quebec.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.1000
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- Publication type:
- Article
Decreased RNA polymerase III subunit expression leads to defects in oligodendrocyte development.
- Published in:
- Frontiers in Neuroscience, 2023, p. 1, doi. 10.3389/fnins.2023.1167047
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- Publication type:
- Article
LINGO1 Variants in the French-Canadian Population.
- Published in:
- PLoS ONE, 2011, v. 6, n. 1, p. 1, doi. 10.1371/journal.pone.0016254
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- Publication type:
- Article
The LORIS MyeliNeuroGene rare disease database for natural history studies and clinical trial readiness.
- Published in:
- 2021
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- Publication type:
- journal article
Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation.
- Published in:
- Molecular Brain, 2017, v. 10, p. 1, doi. 10.1186/s13041-017-0294-y
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- Publication type:
- Article
Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 12, p. 5070, doi. 10.1093/brain/awad249
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- Publication type:
- Article
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.
- Published in:
- 2022
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- Publication type:
- journal article
POLR3A variants in hereditary spastic paraplegia and ataxia.
- Published in:
- 2018
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- Publication type:
- letter
Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans.
- Published in:
- PLoS Biology, 2012, v. 10, n. 3, p. 1, doi. 10.1371/journal.pbio.1001288
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- Publication type:
- Article
A Novel PLP1 Mutation Further Expands the Clinical Heterogeneity at the Locus.
- Published in:
- Canadian Journal of Neurological Sciences, 2012, v. 39, n. 2, p. 220, doi. 10.1017/S0317167100013263
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- Publication type:
- Article
Gross Motor Function in Pediatric Onset TUBB4A -Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in TUBB4A.
- Published in:
- Journal of Child Neurology, 2023, v. 38, n. 8/9, p. 498, doi. 10.1177/08830738231188159
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- Publication type:
- Article
The Experience of Parents of Children With Genetically Determined Leukoencephalopathies With the Health Care System: A Qualitative Study.
- Published in:
- Journal of Child Neurology, 2023, v. 38, n. 5, p. 329, doi. 10.1177/08830738231176672
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- Publication type:
- Article
Experience of Parents of Children with Genetically Determined Leukoencephalopathies Regarding the Adapted Health Care Services During the COVID-19 Pandemic.
- Published in:
- Journal of Child Neurology, 2022, v. 37, n. 4, p. 237, doi. 10.1177/08830738211065317
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- Publication type:
- Article
Response to Correspondence on "Stress in Parents of Children With Genetically Determined Leukoencephalopathies: A Pilot Study".
- Published in:
- Journal of Child Neurology, 2021, v. 36, n. 3, p. 245, doi. 10.1177/0883073820960984
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- Publication type:
- Article
Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease.
- Published in:
- Journal of Child Neurology, 2019, v. 34, n. 2, p. 74, doi. 10.1177/0883073818811223
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- Publication type:
- Article
Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy.
- Published in:
- 2015
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- Publication type:
- Case Study
Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy.
- Published in:
- 2015
- By:
- Publication type:
- journal article
A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy.
- Published in:
- Child Neurology Open, 2023, p. 1, doi. 10.1177/2329048X231176673
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- Publication type:
- Article
A Novel De Novo Variant in DYNC1H1 Causes Spinal Muscular Atrophy Lower Extremity Predominant in Identical Twins: A Case Report.
- Published in:
- Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X211027438
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- Publication type:
- Article
A Novel De Novo Variant in DYNC1H1 Causes Spinal Muscular Atrophy Lower Extremity Predominant in Identical Twins: A Case Report.
- Published in:
- Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X211027438
- By:
- Publication type:
- Article
Classifying Hypomyelination: A Critical (White) Matter.
- Published in:
- 2020
- By:
- Publication type:
- Letter
Classifying Hypomyelination: A Critical (White) Matter.
- Published in:
- 2020
- By:
- Publication type:
- Letter
Dystonia in RNA Polymerase III‐Related Leukodystrophy.
- Published in:
- Movement Disorders Clinical Practice, 2019, v. 6, n. 2, p. 155, doi. 10.1002/mdc3.12715
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- Publication type:
- Article
Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature.
- Published in:
- Case Reports in Endocrinology, 2015, v. 2015, p. 1, doi. 10.1155/2015/314594
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- Publication type:
- Article
Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing.
- Published in:
- Frontiers in Neurology, 2023, v. 14, p. 1, doi. 10.3389/fneur.2023.1148377
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- Publication type:
- Article
Distinguishing severe phenotypes associated with pathogenic variants in POLR3A.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 2, p. 708, doi. 10.1002/ajmg.a.62553
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- Publication type:
- Article
A Case of Secondary Dystonia Responding to Levodopa.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
Response to Correspondence, "Simultaneous Peripheral and Central Demyelination".
- Published in:
- 2008
- By:
- Publication type:
- Letter
Simultaneous Guillain-Barré Syndrome and Acute Disseminated Encephalomyelitis in the Pediatric Population.
- Published in:
- Journal of Child Neurology, 2008, v. 23, n. 7, p. 752, doi. 10.1177/0883073808314360
- By:
- Publication type:
- Article
Large exonic deletions in POLRB gene cause POLR3-related leukodystrophy.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0279-9
- By:
- Publication type:
- Article
Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0279-9
- By:
- Publication type:
- Article