Spondyloepimetaphyseal Dysplasia Strudwick Type Latest Advances

Journal: European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society

Published: February 25, 2025

A rare case of late-onset spondyloenchondrodysplasia with immune dysregulation presenting as adult-onset monogenic lupus.

Journal: Lupus

Published: November 19, 2024

Clinical, laboratory, and molecular characteristics of patients with spondyloenchondrodysplasia: a case series study.

Journal: European journal of pediatrics

Published: October 07, 2024

The C-terminus of CFAP410 forms a tetrameric helical bundle that is essential for its localization to the basal body.

Journal: Open biology

Published: September 10, 2024

Spondyloepimetaphyseal Dysplasia Strudwick Type Latest Advances

Find the Latest Research About Spondyloepimetaphyseal Dysplasia Strudwick Type

A pcyt-1 Allelic Series Reveals In Vivo Consequences of Reduced Phosphatidylcholine Synthesis in C. elegans.

A pcyt-1 Allelic Series Reveals In Vivo Consequences of Reduced Phosphatidylcholine Synthesis in C. elegans.

Expanding the Genotypic and Phenotypic Spectrum of SPENCDI: A Novel ACP5 Variant and Literature Review.

Expanding the Genotypic and Phenotypic Spectrum of SPENCDI: A Novel ACP5 Variant and Literature Review.

Janus kinase inhibitor therapy for the treatment of spondyloenchondrodysplasia with immune dysregulation due to novel ACP5 variants: a multicenter study.

Janus kinase inhibitor therapy for the treatment of spondyloenchondrodysplasia with immune dysregulation due to novel ACP5 variants: a multicenter study.

Clinical, Molecular Characteristics, and Genotype-Phenotype Relationships of Metaphyseal Chondrodysplasia Type Schmid.

Clinical, Molecular Characteristics, and Genotype-Phenotype Relationships of Metaphyseal Chondrodysplasia Type Schmid.

Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With TRPV4-Related Dysplasia.

Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With TRPV4-Related Dysplasia.

Selective Small-Molecule Activator of Patient-Derived GPX4 Variant.

Selective Small-Molecule Activator of Patient-Derived GPX4 Variant.

A novel TRPV4 variant in spondylometaphyseal dysplasia, kozlowski type reveals a previously unreported loss-of-function mechanism.

A novel TRPV4 variant in spondylometaphyseal dysplasia, kozlowski type reveals a previously unreported loss-of-function mechanism.

The p.W651fsX666 mutation on COL10A1 results in impaired trimerization of normal collagen X to induce Schmid type Metaphyseal chondrodysplasia.

The p.W651fsX666 mutation on COL10A1 results in impaired trimerization of normal collagen X to induce Schmid type Metaphyseal chondrodysplasia.

Spine surgery in a rare case of Mégarbané-Dagher-Melki type spondylometaphyseal dysplasia. A Case Report.

Spine surgery in a rare case of Mégarbané-Dagher-Melki type spondylometaphyseal dysplasia. A Case Report.

A rare case of late-onset spondyloenchondrodysplasia with immune dysregulation presenting as adult-onset monogenic lupus.

A rare case of late-onset spondyloenchondrodysplasia with immune dysregulation presenting as adult-onset monogenic lupus.

Clinical, laboratory, and molecular characteristics of patients with spondyloenchondrodysplasia: a case series study.

Clinical, laboratory, and molecular characteristics of patients with spondyloenchondrodysplasia: a case series study.

The C-terminus of CFAP410 forms a tetrameric helical bundle that is essential for its localization to the basal body.

The C-terminus of CFAP410 forms a tetrameric helical bundle that is essential for its localization to the basal body.