Gerald Pfeffer

Central Parkway
Newcastle Upon Tyne, ENG, United Kingdom

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 89 publications

Impaired Myogenic Differentiation Is a Shared Feature Across Genetic Myopathies.

Impaired Myogenic Differentiation Is a Shared Feature Across Genetic Myopathies.

Journal: International journal of molecular sciences

Published: May 22, 2026

A changed landscape: five-year retrospective on the paradigm shift in genetic testing practices for ALS in Canada.

A changed landscape: five-year retrospective on the paradigm shift in genetic testing practices for ALS in Canada.

Journal: European journal of human genetics : EJHG

Published: March 24, 2026

The m.14484T>C MT-ND6 Mutation Presenting with a Hereditary Spastic-Paraparesis Phenotype.

The m.14484T>C MT-ND6 Mutation Presenting with a Hereditary Spastic-Paraparesis Phenotype.

Journal: Movement disorders clinical practice

Published: February 19, 2026

Title Not Found

Title Not Found

Journal: CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne

Published: January 26, 2026

Conference proceedings from the Western Canadian Neuromuscular Conference (WCNMC) - September 27-29, 2024, Calgary, Canada.

Conference proceedings from the Western Canadian Neuromuscular Conference (WCNMC) - September 27-29, 2024, Calgary, Canada.

Journal: Journal of neuromuscular diseases

Published: October 21, 2025

Best practice recommendations for the clinical care of spinal bulbar muscular atrophy.

Best practice recommendations for the clinical care of spinal bulbar muscular atrophy.

Journal: CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne

Published: September 22, 2025

Financial Toxicity and Its Determinants in Individuals Living With Inherited and Acquired Neuromuscular Disorders: The BIND Study.

Financial Toxicity and Its Determinants in Individuals Living With Inherited and Acquired Neuromuscular Disorders: The BIND Study.

Journal: Neurology

Published: August 20, 2025

Counting the Cost: The Hidden Financial Realities of Neuromuscular Disease Through Patient and Family Perspectives.

Counting the Cost: The Hidden Financial Realities of Neuromuscular Disease Through Patient and Family Perspectives.

Journal: Health expectations : an international journal of public participation in health care and health policy

Published: August 08, 2025

Tofersen Treatment Normalizes Neurofilament Levels in Autosomal Recessive SOD1 Amyotrophic Lateral Sclerosis.

Tofersen Treatment Normalizes Neurofilament Levels in Autosomal Recessive SOD1 Amyotrophic Lateral Sclerosis.

Journal: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

Published: July 03, 2025

The Oral Microbiome in Amyotrophic Lateral Sclerosis Shows Differentially Abundant Organisms in Limb Versus Bulbar Onset Disease: A Binational Study.

The Oral Microbiome in Amyotrophic Lateral Sclerosis Shows Differentially Abundant Organisms in Limb Versus Bulbar Onset Disease: A Binational Study.

Journal: Journal of clinical neurology (Seoul, Korea)

Published: April 25, 2025

Identification of a Second-Hit Brain Somatic DEPDC5 Variant Supports Causality of a DEPDC5 Germline Variant of Uncertain Significance. Time for a Classification Update?

Identification of a Second-Hit Brain Somatic DEPDC5 Variant Supports Causality of a DEPDC5 Germline Variant of Uncertain Significance. Time for a Classification Update?

Journal: American journal of medical genetics. Part A

Published: April 16, 2025

Comprehensive analysis platform to understand, remedy, and eliminate amyotrophic lateral sclerosis (CAPTURE ALS): Study protocol for a Canadian multicenter, multimodal, longitudinal observational study.

Comprehensive analysis platform to understand, remedy, and eliminate amyotrophic lateral sclerosis (CAPTURE ALS): Study protocol for a Canadian multicenter, multimodal, longitudinal observational study.

Journal: PloS one

Published: April 11, 2025

Showing 1-12 of 89

Last Updated: 09/26/2026