Fernando O. Kok

Sao Paulo, SP, Brazil

Last Updated: 09/26/2026

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Found 152 publications

The clinical, radiological and genetic spectrum AARS2-related leukoencephalopathy: a case series of 15 patients and review of the literature.

The clinical, radiological and genetic spectrum AARS2-related leukoencephalopathy: a case series of 15 patients and review of the literature.

Journal: Journal of neurology

Published: April 27, 2026

Novel Homozygous Pathogenic Variant in DNAJC6 Causes Rapid Progressive Parkinsonism.

Novel Homozygous Pathogenic Variant in DNAJC6 Causes Rapid Progressive Parkinsonism.

Journal: Movement disorders clinical practice

Published: December 31, 2025

Neurocognitive and autism spectrum profiles associated with dystrophin isoform disruption in childhood dystrophinopathies: insights from a Brazilian cohort.

Neurocognitive and autism spectrum profiles associated with dystrophin isoform disruption in childhood dystrophinopathies: insights from a Brazilian cohort.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: November 15, 2025

A Novel TUBB2A Variant Causing Ataxia With Preserved Ambulation Into Adulthood.

A Novel TUBB2A Variant Causing Ataxia With Preserved Ambulation Into Adulthood.

Journal: American journal of medical genetics. Part A

Published: October 29, 2025

Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in ABCC9-Related Intellectual Disability and Myopathy Syndrome.

Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in ABCC9-Related Intellectual Disability and Myopathy Syndrome.

Journal: Neurology. Genetics

Published: October 06, 2025

VPS13D-Related Disorders: Description of New Variant and Phenotypic Spectrum Based on Age of Onset.

VPS13D-Related Disorders: Description of New Variant and Phenotypic Spectrum Based on Age of Onset.

Journal: Cerebellum (London, England)

Published: September 23, 2025

A GNAI1 Pathogenic Variant Mimicking Cerebral Palsy: Expanding the Phenotypic Spectrum of GNAI1-Associated Neurodevelopmental Disorder.

A GNAI1 Pathogenic Variant Mimicking Cerebral Palsy: Expanding the Phenotypic Spectrum of GNAI1-Associated Neurodevelopmental Disorder.

Journal: Clinical case reports

Published: September 21, 2025

Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy.

Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy.

Journal: Annals of neurology

Published: August 25, 2025

Neuroimaging in Tuberous Sclerosis Complex: 7T MRI Discloses a Much Larger Number of Tubers Than Conventional MRI.

Neuroimaging in Tuberous Sclerosis Complex: 7T MRI Discloses a Much Larger Number of Tubers Than Conventional MRI.

Journal: AJNR. American journal of neuroradiology

Published: August 25, 2025

Novel ADPRS Missense Variant (p.Leu162Pro) Causes Stress-Induced Childhood-Onset Neurodegeneration With Ataxia and Seizures.

Novel ADPRS Missense Variant (p.Leu162Pro) Causes Stress-Induced Childhood-Onset Neurodegeneration With Ataxia and Seizures.

Journal: Neurology. Genetics

Published: August 01, 2025

Time to Diagnosis of Duchenne Muscular Dystrophy Patients With or Without Development Delay.

Time to Diagnosis of Duchenne Muscular Dystrophy Patients With or Without Development Delay.

Journal: Journal of child neurology

Published: June 18, 2025

PHARC (Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract) - A Case Report and Clinical-Focused Literature Review.

PHARC (Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract) - A Case Report and Clinical-Focused Literature Review.

Journal: Cerebellum (London, England)

Published: May 22, 2025

Showing 1-12 of 152

Last Updated: 09/26/2026