Julian C. Blake

UCL Queen Square Institute Of Neurology
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 56 publications

Acute Motor Axonal Neuropathy in Biotinidase Deficiency Complicated by Dietary Restriction.

Acute Motor Axonal Neuropathy in Biotinidase Deficiency Complicated by Dietary Restriction.

Journal: Journal of clinical neuromuscular disease

Published: June 02, 2026

VRK1-Related Motor Neuropathy With Upper Motor Neuron Signs and Selective Muscle Involvement.

VRK1-Related Motor Neuropathy With Upper Motor Neuron Signs and Selective Muscle Involvement.

Journal: Journal of the peripheral nervous system : JPNS

Published: May 17, 2026

ITPR1 Deletion in a Patient With Sensory Ataxic Neuropathy and Sjögren Syndrome.

ITPR1 Deletion in a Patient With Sensory Ataxic Neuropathy and Sjögren Syndrome.

Journal: Journal of the peripheral nervous system : JPNS

Published: August 30, 2025

Spectrum of dominant Charcot-Marie-Tooth disease due to SLC12A6 variants.

Spectrum of dominant Charcot-Marie-Tooth disease due to SLC12A6 variants.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: May 20, 2025

ADGRG6-related disorder: a novel mutation resulting in distal arthrogryposis and a patchy neuropathy.

ADGRG6-related disorder: a novel mutation resulting in distal arthrogryposis and a patchy neuropathy.

Journal: Neuromuscular disorders : NMD

Published: April 10, 2025

A Case Series of Unilateral Peripheral Neuropathy.

A Case Series of Unilateral Peripheral Neuropathy.

Journal: Journal of the peripheral nervous system : JPNS

Published: April 09, 2025

Heterozygous PNPT1 Variants Cause a Sensory Ataxic Neuropathy.

Heterozygous PNPT1 Variants Cause a Sensory Ataxic Neuropathy.

Journal: European journal of neurology

Published: November 08, 2024

Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13.

Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13.

Journal: European journal of neurology

Published: October 28, 2024

Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype.

Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype.

Journal: Annals of neurology

Published: April 18, 2024

A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.

A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity.

Journal: Brain : a journal of neurology

Published: December 21, 2023

Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.

Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.

Journal: Brain : a journal of neurology

Published: November 09, 2023

Digenic FLNA and UCHL1 variants resulting in a complex phenotype.

Digenic FLNA and UCHL1 variants resulting in a complex phenotype.

Journal: Journal of the peripheral nervous system : JPNS

Published: October 31, 2023

Showing 1-12 of 56

Last Updated: 09/26/2026