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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.
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- Journal of Child Neurology, 2022, v. 37, n. 4, p. 237, doi. 10.1177/08830738211065317
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- Publication type:
- Article
Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia.
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- Journal of Child Neurology, 2020, v. 35, n. 2, p. 106, doi. 10.1177/0883073819878917
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- Publication type:
- Article
Clinical and Radiologic Spectrum of Septo-optic Dysplasia: Review of 17 Cases.
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- Journal of Child Neurology, 2017, v. 32, n. 9, p. 797, doi. 10.1177/0883073817707300
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- Publication type:
- Article
Diverse injury responses of human oligodendrocyte to mediators implicated in multiple sclerosis.
- Published in:
- 2022
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- Publication type:
- journal article
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
- Published in:
- 2022
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- Publication type:
- journal article
The clinical spectrum of nodular heterotopias in children: Report of 31 patients.
- Published in:
- Epilepsia (Series 4), 2011, v. 52, n. 4, p. 728, doi. 10.1111/j.1528-1167.2010.02975.x
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- Publication type:
- Article
Developmental trajectory of oligodendrocyte progenitor cells in the human brain revealed by single cell RNA sequencing.
- Published in:
- Glia, 2020, v. 68, n. 6, p. 1291, doi. 10.1002/glia.23777
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- Publication type:
- Article
Imaging characteristics and neurosurgical outcome in subjects with agenesis of the corpus callosum and interhemispheric cysts.
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- Neuroradiology, 2022, v. 64, n. 11, p. 2163, doi. 10.1007/s00234-022-02990-1
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- Publication type:
- Article
Genotype-phenotype correlation in CLCN4-related developmental and epileptic encephalopathy.
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- Human Genetics, 2024, v. 143, n. 5, p. 667, doi. 10.1007/s00439-024-02668-z
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- Article
Severe DNM1 encephalopathy with dysmyelination due to recurrent splice site pathogenic variant.
- Published in:
- 2020
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- Publication type:
- Letter
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
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- Publication type:
- Article
Distal 22q11.2 Microduplication: Case Report and Review of the Literature.
- Published in:
- Child Neurology Open, 2017, v. 4, p. 1, doi. 10.1177/2329048X17737651
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- Publication type:
- Article
Two Novel KCNQ2 Mutations in 2 Families With Benign Familial Neonatal Convulsions.
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- Child Neurology Open, 2017, v. 4, p. 1, doi. 10.1177/2329048X17691396
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- Publication type:
- Article
Classic "PCH" Genes are a Rare Cause of Radiologic Pontocerebellar Hypoplasia.
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- Cerebellum, 2024, v. 23, n. 2, p. 418, doi. 10.1007/s12311-023-01544-2
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- Publication type:
- Article
Diagnostic Approach to Cerebellar Hypoplasia.
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- Cerebellum, 2021, v. 20, n. 4, p. 631, doi. 10.1007/s12311-020-01224-5
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- Publication type:
- Article
An in‐frame deletion affecting the critical acid loop of PPP2R5D is associated with a neonatal lethal form of PPP2R5D‐related neurodevelopmental disorder.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2416, doi. 10.1002/ajmg.a.63307
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- Publication type:
- Article
De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 962, doi. 10.1002/ajmg.a.61505
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- Publication type:
- Article
A novel homozygous <italic>AP4B1</italic> mutation in two brothers with AP‐4 deficiency syndrome and ocular anomalies.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 985, doi. 10.1002/ajmg.a.38628
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- Publication type:
- Article
Expansion of the clinical phenotype of the distal 10q26.3 deletion syndrome to include ataxia and hyperemia of the hands and feet.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1611, doi. 10.1002/ajmg.a.38231
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- Publication type:
- Article
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development.
- Published in:
- Nature Genetics, 2013, v. 45, n. 11, p. 1300, doi. 10.1038/ng.2765
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- Publication type:
- Article
Antenatal corticosteroid administration and attention-deficit/hyperactivity disorder in childhood: a regression discontinuity study.
- Published in:
- 2022
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- Publication type:
- journal article
Regulation of stress granule formation in human oligodendrocytes.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-45746-6
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- Publication type:
- Article
Regulation of stress granule formation in human oligodendrocytes.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-45746-6
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- Publication type:
- Article
Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood.
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- Muscle & Nerve, 2014, v. 50, n. 5, p. 775, doi. 10.1002/mus.24224
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- Publication type:
- Article
Developmental outcomes in children with congenital cerebellar malformations.
- Published in:
- 2019
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- Publication type:
- journal article
Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder.
- Published in:
- Human Genetics, 2014, v. 133, n. 11, p. 1419, doi. 10.1007/s00439-014-1475-8
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- Publication type:
- Article
Analysis of the microglia transcriptome across the human lifespan using single cell RNA sequencing.
- Published in:
- Journal of Neuroinflammation, 2023, v. 20, n. 1, p. 1, doi. 10.1186/s12974-023-02809-7
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- Publication type:
- Article
Age-related injury responses of human oligodendrocytes to metabolic insults: link to BCL-2 and autophagy pathways.
- Published in:
- Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-020-01557-1
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- Publication type:
- Article
Mechanisms of metabolic stress induced cell death of human oligodendrocytes: relevance for progressive multiple sclerosis.
- Published in:
- Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-023-01601-1
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- Publication type:
- Article
SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay.
- Published in:
- BMC Medical Genomics, 2014, v. 7, n. 1, p. 150, doi. 10.1186/s12920-014-0070-0
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- Publication type:
- Article
Mutations in the netrin-1 gene cause congenital mirror movements.
- Published in:
- Journal of Clinical Investigation, 2017, v. 127, n. 11, p. 3923, doi. 10.1172/JCI95442
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- Publication type:
- Article
Holoprosencephaly: Review of Embryology, Clinical Phenotypes, Etiology and Management.
- Published in:
- Children, 2023, v. 10, n. 4, p. 647, doi. 10.3390/children10040647
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- Publication type:
- Article
Evaluation of Individuals with Non-Syndromic Global Developmental Delay and Intellectual Disability.
- Published in:
- Children, 2023, v. 10, n. 3, p. 414, doi. 10.3390/children10030414
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- Publication type:
- Article
Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 cases.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.913652
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- Publication type:
- Article
Human Oligodendrocyte Myelination Potential; Relation to Age and Differentiation.
- Published in:
- Annals of Neurology, 2022, v. 91, n. 2, p. 178, doi. 10.1002/ana.26288
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- Publication type:
- Article
Neural function in DCC mutation carriers with and without mirror movements.
- Published in:
- 2019
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- Publication type:
- journal article
Utility of genetic testing in the pre-surgical evaluation of children with drug-resistant epilepsy.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 5, p. 2503, doi. 10.1007/s00415-023-12174-3
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- Publication type:
- Article
The phenotypic spectrum of epilepsy associated with periventricular nodular heterotopia.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 8, p. 3934, doi. 10.1007/s00415-023-11724-z
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- Publication type:
- Article
Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development.
- Published in:
- Journal of Neurology, 2019, v. 266, n. 5, p. 1167, doi. 10.1007/s00415-019-09247-7
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- Publication type:
- Article
Age-dependent effects of metformin on human oligodendrocyte lineage cell ensheathment capacity.
- Published in:
- Brain Communications, 2024, v. 6, n. 2, p. 1, doi. 10.1093/braincomms/fcae109
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- Publication type:
- Article
Status Epilepticus Manifested as Continuous Epileptic Spasms.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00065
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- Publication type:
- Article
A human DCC variant causing mirror movement disorder reveals that the WAVE regulatory complex mediates axon guidance by netrin-1–DCC.
- Published in:
- Science Signaling, 2024, v. 17, n. 856, p. 1, doi. 10.1126/scisignal.adk2345
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- Publication type:
- Article
Antenatal corticosteroid administration and early school age child development: A regression discontinuity study in British Columbia, Canada.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected Individuals.
- Published in:
- Movement Disorders, 2024, v. 39, n. 2, p. 400, doi. 10.1002/mds.29669
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- Publication type:
- Article
Diagnosing Sotos Syndrome in the Setting of Global Developmental Delay and Macrocephaly.
- Published in:
- Journal of Child Neurology, 2006, v. 21, n. 4, p. 287, doi. 10.1177/08830738060210042201
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- Publication type:
- Article
Mesocorticolimbic Connectivity and Volumetric Alterations in DCC Mutation Carriers.
- Published in:
- Journal of Neuroscience, 2018, v. 38, n. 20, p. 4655, doi. 10.1523/JNEUROSCI.3251-17.2018
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- Publication type:
- Article
De Novo Mutations in Moderate or Severe Intellectual Disability.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 10, p. 1, doi. 10.1371/journal.pgen.1004772
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- Publication type:
- Article
Regional and age‐related diversity of human mature oligodendrocytes.
- Published in:
- Glia, 2022, v. 70, n. 10, p. 1938, doi. 10.1002/glia.24230
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- Publication type:
- Article