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Diagnostic Approach to Cerebellar Hypoplasia

Cerebellum (London, England), 2021-08, Vol.20 (4), p.631-658

2021

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De novo mutations in moderate or severe intellectual disability

PLoS genetics, 2014-10, Vol.10 (10), p.e1004772

2014

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Antenatal corticosteroid administration and early school age child development: A regression discontinuity study in British Columbia, Canada

PLoS medicine, 2020-12, Vol.17 (12), p.e1003435

2020

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Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 cases

Frontiers in neurology, 2022-10, Vol.13

2022

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Regulation of stress granule formation in human oligodendrocytes

Nature communications, 2024-02, Vol.15 (1), p.1524-1524, Article 1524

2024

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KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2

American journal of human genetics, 2011-08, Vol.89 (2), p.219-230

2011

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Analysis of the microglia transcriptome across the human lifespan using single cell RNA sequencing

Journal of neuroinflammation, 2023-05, Vol.20 (1), p.132-132

2023

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Holoprosencephaly: Review of Embryology, Clinical Phenotypes, Etiology and Management

Children (Basel), 2023-03, Vol.10 (4), p.647

2023

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Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population

American journal of human genetics, 2012-04, Vol.90 (4), p.693-700

2012

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Evaluation of Individuals with Non-Syndromic Global Developmental Delay and Intellectual Disability

Children (Basel), 2023-02, Vol.10 (3), p.414

2023

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Age-related injury responses of human oligodendrocytes to metabolic insults: link to BCL-2 and autophagy pathways

Communications biology, 2021-01, Vol.4 (1), p.20-20, Article 20

2021

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Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia

Neurogenetics, 2019-05, Vol.20 (2), p.103-108

2019

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Acute Hemorrhagic Encephalitis Responding to Combined Decompressive Craniectomy, Intravenous Immunoglobulin, and Corticosteroid Therapies: Association with Novel RANBP2 Variant

Frontiers in neurology, 2018-03, Vol.9, p.130

2018

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Mechanisms of metabolic stress induced cell death of human oligodendrocytes: relevance for progressive multiple sclerosis

Acta neuropathologica communications, 2023-07, Vol.11 (1), p.108-108, Article 108

2023

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Risk Factors for Intraventricular Hemorrhage in Term Asphyxiated Newborns Treated With Hypothermia

Pediatric neurology, 2014-06, Vol.50 (6), p.630-635

2014

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DCC Is Required for the Development of Nociceptive Topognosis in Mice and Humans

Cell reports (Cambridge), 2018-01, Vol.22 (5), p.1105-1114

2018

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Status Epilepticus Manifested as Continuous Epileptic Spasms

Frontiers in neurology, 2020-02, Vol.11, p.65-65

2020

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Progressive Limb Weakness and Sensory Loss in a Young Woman

McGill journal of medicine, 2020-12, Vol.5 (2)

2020

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Teaching Video NeuroImages: Figure 8 head-shaking stereotypy in rhombencephalosynapsis

Neurology, 2018-05, Vol.90 (20)

2018

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The epilepsy‐movement disorder phenotypic spectrum and phenytoin‐induced dyskinesia associated with GABRB3 pathogenic variants

Epileptic disorders, 2021-12, Vol.23 (6), p.947-950

2021

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L1CAM variants cause two distinct imaging phenotypes on fetal MRI

Annals of clinical and translational neurology, 2021-10, Vol.8 (10), p.2004-2012

2021

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Two Novel KCNQ2 Mutations in 2 Families With Benign Familial Neonatal Convulsions

Child neurology open, 2017-01, Vol.4, p.2329048X17691396-2329048X17691396

2017

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Child neurology: Andersen-Tawil syndrome

Neurology, 2015-03, Vol.84 (11), p.e78

2015

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An in‐frame deletion affecting the critical acid loop of PPP2R5D is associated with a neonatal lethal form of PPP2R5D‐related neurodevelopmental disorder

American journal of medical genetics. Part A, 2023-09, Vol.191 (9), p.2416-2421

2023

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Teaching NeuroImages: CLOVES Syndrome

Neurology, 2021-03, Vol.96 (10), p.e1487

2021

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Diagnostic Approach to Cerebellar Hypoplasia

De novo mutations in moderate or severe intellectual disability

Antenatal corticosteroid administration and early school age child development: A regression discontinuity study in British Columbia, Canada

Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 cases

Regulation of stress granule formation in human oligodendrocytes

KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2

Analysis of the microglia transcriptome across the human lifespan using single cell RNA sequencing

Holoprosencephaly: Review of Embryology, Clinical Phenotypes, Etiology and Management

Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population

Evaluation of Individuals with Non-Syndromic Global Developmental Delay and Intellectual Disability

Age-related injury responses of human oligodendrocytes to metabolic insults: link to BCL-2 and autophagy pathways

Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia

Acute Hemorrhagic Encephalitis Responding to Combined Decompressive Craniectomy, Intravenous Immunoglobulin, and Corticosteroid Therapies: Association with Novel RANBP2 Variant

Mechanisms of metabolic stress induced cell death of human oligodendrocytes: relevance for progressive multiple sclerosis

Risk Factors for Intraventricular Hemorrhage in Term Asphyxiated Newborns Treated With Hypothermia

DCC Is Required for the Development of Nociceptive Topognosis in Mice and Humans

Status Epilepticus Manifested as Continuous Epileptic Spasms

Progressive Limb Weakness and Sensory Loss in a Young Woman

Teaching Video NeuroImages: Figure 8 head-shaking stereotypy in rhombencephalosynapsis

The epilepsy‐movement disorder phenotypic spectrum and phenytoin‐induced dyskinesia associated with GABRB3 pathogenic variants

L1CAM variants cause two distinct imaging phenotypes on fetal MRI

Two Novel KCNQ2 Mutations in 2 Families With Benign Familial Neonatal Convulsions

Child neurology: Andersen-Tawil syndrome

An in‐frame deletion affecting the critical acid loop of PPP2R5D is associated with a neonatal lethal form of PPP2R5D‐related neurodevelopmental disorder

Teaching NeuroImages: CLOVES Syndrome

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