Patrick M. Macleod

Vancouver, BC, Canada

Last Updated: 09/26/2026

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Found 14 publications

SETD1A variant-associated psychosis: A systematic review of the clinical literature and description of two new cases.

SETD1A variant-associated psychosis: A systematic review of the clinical literature and description of two new cases.

Journal: Progress in neuro-psychopharmacology & biological psychiatry

Published: May 29, 2023

The man behind the honors Dr. P. M. MacLeod MD FRCPC FCCMG DABG.

The man behind the honors Dr. P. M. MacLeod MD FRCPC FCCMG DABG.

Journal: Birth defects research

Published: March 31, 2020

Loss of tyrosine hydroxylase, motor deficits and elevated iron in a mouse model of phospholipase A2G6-associated neurodegeneration (PLAN).

Loss of tyrosine hydroxylase, motor deficits and elevated iron in a mouse model of phospholipase A2G6-associated neurodegeneration (PLAN).

Journal: Brain research

Published: October 12, 2019

One‑carbon metabolism factor MTHFR variant is associated with saccade latency in Spinocerebellar Ataxia type 2.

One‑carbon metabolism factor MTHFR variant is associated with saccade latency in Spinocerebellar Ataxia type 2.

Journal: Journal of the neurological sciences

Published: June 29, 2019

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.

Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.

Journal: Journal of medical genetics

Published: December 16, 2017

Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.

Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.

Journal: American journal of medical genetics. Part A

Published: November 01, 2016

Association of glutathione S-transferase omega polymorphism and spinocerebellar ataxia type 2.

Association of glutathione S-transferase omega polymorphism and spinocerebellar ataxia type 2.

Journal: Journal of the neurological sciences

Published: June 27, 2016

From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2.

From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2.

Journal: Scientific reports

Published: June 01, 2016

Epidemiological, clinical, and molecular characterization of Cuban families with spinocerebellar ataxia type 3/Machado-Joseph disease.

Epidemiological, clinical, and molecular characterization of Cuban families with spinocerebellar ataxia type 3/Machado-Joseph disease.

Journal: Cerebellum & ataxias

Published: October 22, 2014

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.

Journal: Orphanet journal of rare diseases

Published: January 04, 2013

Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome.

Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome.

Journal: American journal of medical genetics. Part A

Published: December 15, 2012

Psychological well-being and family satisfaction levels five years after being confirmed as a carrier of the Machado-Joseph disease mutation.

Psychological well-being and family satisfaction levels five years after being confirmed as a carrier of the Machado-Joseph disease mutation.

Journal: Genetic testing and molecular biomarkers

Published: November 17, 2012

Showing 1-12 of 14

Last Updated: 09/26/2026