Randal C. Richardson

Neuromusculoskeletal Medicine

200 University Ave E
Saint Paul, MN 55101

Last Updated: 09/26/2026

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Found 11 publications

Differences in swallowing efficacy of disease modifying treatment between infants receiving pre-symptomatic and symptomatic administration.

Differences in swallowing efficacy of disease modifying treatment between infants receiving pre-symptomatic and symptomatic administration.

Journal: Orphanet journal of rare diseases

Published: August 21, 2025

Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.

Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.

Journal: Brain : a journal of neurology

Published: October 03, 2024

Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up.

Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up.

Journal: EBioMedicine

Published: April 29, 2024

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.

Journal: medRxiv : the preprint server for health sciences

Published: April 08, 2024

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.

Journal: Nature communications

Published: October 15, 2020

Safety and efficacy of nusinersen in spinal muscular atrophy: The EMBRACE study.

Safety and efficacy of nusinersen in spinal muscular atrophy: The EMBRACE study.

Journal: Muscle & nerve

Published: August 28, 2020

Cost-effectiveness of Nusinersen for Spinal Muscular Atrophy.

Cost-effectiveness of Nusinersen for Spinal Muscular Atrophy.

Journal: JAMA pediatrics

Published: May 26, 2018

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.

Journal: Orphanet journal of rare diseases

Published: November 14, 2016

De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.

De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.

Journal: Human mutation

Published: June 18, 2014

Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance.

Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance.

Journal: Muscle & nerve

Published: July 16, 2013

Severe case and literature review of primary erythromelalgia: novel SCN9A gene mutation.

Severe case and literature review of primary erythromelalgia: novel SCN9A gene mutation.

Journal: Vascular medicine (London, England)

Published: October 29, 2011

Showing 1-11 of 11

Last Updated: 09/26/2026