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Fred van Ruissen

Showing results (21-30 of 36) with videos related to

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JIMD Reports|September 30, 2016
RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?Tessa van Dijk, Fred van Ruissen, Bregje Jaeger, et al.
The Journal of Clinical Psychiatry|November 2, 2022
Relationship Between Sporadic Behavioral Variant Frontotemporal Dementia and Primary Psychiatric Disorders: A Study in FamiliesSiham Icho, Nicole Korten, Lianne Reus, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|January 5, 2005
Full transcriptome analysis of rhabdomyosarcoma, normal, and fetal skeletal muscle: statistical comparison of multiple SAGE librariesGerben J Schaaf, Jan M Ruijter, Fred van Ruissen, et al.
Neurology. Genetics|November 24, 2025
Search for Additional Pathogenic Variants to Explain Variation in <i>PMP22</i>-Related NeuropathiesBarbara W van Paassen, Camiel Verhamme, Fred van Ruissen, et al.
Human Molecular Genetics|March 24, 2017
LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2PJohanna E Hakonen, Vincenzo Sorrentino, Rossella Avagliano Trezza, et al.
Journal of the Peripheral Nervous System : JPNS|June 28, 2012
Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletionNicol C Voermans, Tjitske Kleefstra, Anneke A Gabreëls-Festen, et al.
Neuromuscular Disorders : NMD|December 20, 2022
Pathogenic variants in three families with distal muscle involvementMarian A J Weterman, Marieke Bronk, Aldo Jongejan, et al.
Journal of the Peripheral Nervous System : JPNS|June 23, 2011
The phenotype of the Gly94fsX222 PMP22 insertionSara D J de Vries, Camiel Verhamme, Fred van Ruissen, et al.
Human Molecular Genetics|August 21, 2018
Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneitiesMarian A J Weterman, Molly Kuo, Susan B Kenter, et al.
Neurology|January 27, 2025
Prevalence of Pathogenic Variants and Eligibility Criteria for Genetic Testing in Patients Who Visit a Memory ClinicSven J Van Der Lee, Marc Hulsman, Rosalina Van Spaendonk, et al.
Pageof 4

Showing results (21-30 of 36) with videos related to

Sort By:
Pageof 4
JIMD Reports|September 30, 2016
RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?Tessa van Dijk, Fred van Ruissen, Bregje Jaeger, et al.
The Journal of Clinical Psychiatry|November 2, 2022
Relationship Between Sporadic Behavioral Variant Frontotemporal Dementia and Primary Psychiatric Disorders: A Study in FamiliesSiham Icho, Nicole Korten, Lianne Reus, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|January 5, 2005
Full transcriptome analysis of rhabdomyosarcoma, normal, and fetal skeletal muscle: statistical comparison of multiple SAGE librariesGerben J Schaaf, Jan M Ruijter, Fred van Ruissen, et al.
Neurology. Genetics|November 24, 2025
Search for Additional Pathogenic Variants to Explain Variation in <i>PMP22</i>-Related NeuropathiesBarbara W van Paassen, Camiel Verhamme, Fred van Ruissen, et al.
Human Molecular Genetics|March 24, 2017
LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2PJohanna E Hakonen, Vincenzo Sorrentino, Rossella Avagliano Trezza, et al.
Journal of the Peripheral Nervous System : JPNS|June 28, 2012
Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletionNicol C Voermans, Tjitske Kleefstra, Anneke A Gabreëls-Festen, et al.
Neuromuscular Disorders : NMD|December 20, 2022
Pathogenic variants in three families with distal muscle involvementMarian A J Weterman, Marieke Bronk, Aldo Jongejan, et al.
Journal of the Peripheral Nervous System : JPNS|June 23, 2011
The phenotype of the Gly94fsX222 PMP22 insertionSara D J de Vries, Camiel Verhamme, Fred van Ruissen, et al.
Human Molecular Genetics|August 21, 2018
Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneitiesMarian A J Weterman, Molly Kuo, Susan B Kenter, et al.
Neurology|January 27, 2025
Prevalence of Pathogenic Variants and Eligibility Criteria for Genetic Testing in Patients Who Visit a Memory ClinicSven J Van Der Lee, Marc Hulsman, Rosalina Van Spaendonk, et al.
Pageof 4