Fred Van Ruissen

Amsterdam, NH, Netherlands

Last Updated: 09/26/2026

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Found 17 publications

Search for Additional Pathogenic Variants to Explain Variation in PMP22-Related Neuropathies.

Search for Additional Pathogenic Variants to Explain Variation in PMP22-Related Neuropathies.

Journal: Neurology. Genetics

Published: February 13, 2025

Genetic testing of common and rare variants in dementia patients from a memory clinic : Dementia-related genetic testing in memory clinic.

Genetic testing of common and rare variants in dementia patients from a memory clinic : Dementia-related genetic testing in memory clinic.

Journal: Alzheimer's research & therapy

Published: February 05, 2025

Prevalence of Pathogenic Variants and Eligibility Criteria for Genetic Testing in Patients Who Visit a Memory Clinic.

Prevalence of Pathogenic Variants and Eligibility Criteria for Genetic Testing in Patients Who Visit a Memory Clinic.

Journal: Neurology

Published: January 27, 2025

Relationship Between Sporadic Behavioral Variant Frontotemporal Dementia and Primary Psychiatric Disorders: A Study in Families.

Relationship Between Sporadic Behavioral Variant Frontotemporal Dementia and Primary Psychiatric Disorders: A Study in Families.

Journal: The Journal of clinical psychiatry

Published: November 02, 2022

Pathogenic variants in three families with distal muscle involvement.

Pathogenic variants in three families with distal muscle involvement.

Journal: Neuromuscular disorders : NMD

Published: July 05, 2022

Letter to the editor on a paper by Kaivola et al. (2020): carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is not associated with amyotrophic lateral sclerosis or frontotemporal dementia.

Letter to the editor on a paper by Kaivola et al. (2020): carriership of two copies of C9orf72 hexanucleotide repeat intermediate-length alleles is not associated with amyotrophic lateral sclerosis or frontotemporal dementia.

Journal: Acta neuropathologica communications

Published: May 24, 2022

Genome-wide association study of frontotemporal dementia identifies a C9ORF72 haplotype with a median of 12-G4C2 repeats that predisposes to pathological repeat expansions.

Genome-wide association study of frontotemporal dementia identifies a C9ORF72 haplotype with a median of 12-G4C2 repeats that predisposes to pathological repeat expansions.

Journal: Translational psychiatry

Published: March 19, 2021

Early life involvement in C9orf72 repeat expansion carriers.

Early life involvement in C9orf72 repeat expansion carriers.

Journal: Journal of neurology, neurosurgery, and psychiatry

Published: December 29, 2020

Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities.

Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities.

Journal: Human molecular genetics

Published: June 29, 2018

Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations.

Pseudodominant inheritance pattern in a family with CMT2 caused by GDAP1 mutations.

Journal: Journal of the peripheral nervous system : JPNS

Published: May 14, 2017

LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P.

LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P.

Journal: Human molecular genetics

Published: February 13, 2017

Myoclonus-dystonia: An under-recognized entity - Report of 5 cases.

Myoclonus-dystonia: An under-recognized entity - Report of 5 cases.

Journal: Neurology India

Published: September 15, 2016

Showing 1-12 of 17

Last Updated: 09/26/2026