Cohen Syndrome Latest Advances

Analysis of variants of VPS13B gene in a child with Cohen syndrome

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: February 06, 2026

VPS13B maintains lysosomal homeostasis through regulation of TFEB.

Journal: Molecular brain

Published: January 19, 2026

Proceedings of the 12th International Meeting on Neuroacanthocytosis, Cohen Syndrome, and Other VPS13-Related Disorders.

Journal: Tremor and other hyperkinetic movements (New York, N.Y.)

Published: October 28, 2025

Anomalous Origin of the Left Anterior Descending Artery From the Pulmonary Artery in an Infant With TMCO1 Mutation and Cohen Syndrome.

Journal: CASE (Philadelphia, Pa.)

Published: October 06, 2025

Further evidence for a wide phenotypic and mutational spectrum of Cohen syndrome: case report and literature review.

Journal: Journal of applied genetics

Published: September 14, 2025

Cohen syndrome with novel VPS13B variants presenting as early-onset diabetes: a case report.

Journal: Acta diabetologica

Published: September 09, 2025

Physical therapy rehabilitation of Cohen syndrome in Pakistan.

Journal: JPMA. The Journal of the Pakistan Medical Association

Published: August 02, 2025

Neutropenia is a consistent and the earliest manifestation of Cohen's syndrome: three cases and two novel variants in VPS13B gene.

Journal: Molecular cytogenetics

Published: July 21, 2025

Cohen syndrome in a child caused by compound heterozygous variants in VPS13B gene

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: June 30, 2025

Periodontal Manifestations of Systemic Diseases.

Journal: Journal of periodontal research

Published: May 29, 2025

VPS13B, gene responsible for Cohen syndrome, regulates gingival epithelial barrier function via intracellular trafficking of coxsackievirus and adenovirus receptor.

Journal: Scientific reports

Published: April 07, 2025

The Role of Visual Electrophysiology in Systemic Hereditary Syndromes.

Journal: International journal of molecular sciences

Published: December 24, 2024

Cohen Syndrome Latest Advances

Find the Latest Research About Cohen Syndrome

Analysis of variants of VPS13B gene in a child with Cohen syndrome

Analysis of variants of VPS13B gene in a child with Cohen syndrome

VPS13B maintains lysosomal homeostasis through regulation of TFEB.

VPS13B maintains lysosomal homeostasis through regulation of TFEB.

Proceedings of the 12th International Meeting on Neuroacanthocytosis, Cohen Syndrome, and Other VPS13-Related Disorders.

Proceedings of the 12th International Meeting on Neuroacanthocytosis, Cohen Syndrome, and Other VPS13-Related Disorders.

Anomalous Origin of the Left Anterior Descending Artery From the Pulmonary Artery in an Infant With TMCO1 Mutation and Cohen Syndrome.

Anomalous Origin of the Left Anterior Descending Artery From the Pulmonary Artery in an Infant With TMCO1 Mutation and Cohen Syndrome.

Further evidence for a wide phenotypic and mutational spectrum of Cohen syndrome: case report and literature review.

Further evidence for a wide phenotypic and mutational spectrum of Cohen syndrome: case report and literature review.

Cohen syndrome with novel VPS13B variants presenting as early-onset diabetes: a case report.

Cohen syndrome with novel VPS13B variants presenting as early-onset diabetes: a case report.

Physical therapy rehabilitation of Cohen syndrome in Pakistan.

Physical therapy rehabilitation of Cohen syndrome in Pakistan.

Neutropenia is a consistent and the earliest manifestation of Cohen's syndrome: three cases and two novel variants in VPS13B gene.

Neutropenia is a consistent and the earliest manifestation of Cohen's syndrome: three cases and two novel variants in VPS13B gene.

Cohen syndrome in a child caused by compound heterozygous variants in VPS13B gene

Cohen syndrome in a child caused by compound heterozygous variants in VPS13B gene

Periodontal Manifestations of Systemic Diseases.

Periodontal Manifestations of Systemic Diseases.

VPS13B, gene responsible for Cohen syndrome, regulates gingival epithelial barrier function via intracellular trafficking of coxsackievirus and adenovirus receptor.

VPS13B, gene responsible for Cohen syndrome, regulates gingival epithelial barrier function via intracellular trafficking of coxsackievirus and adenovirus receptor.

The Role of Visual Electrophysiology in Systemic Hereditary Syndromes.

The Role of Visual Electrophysiology in Systemic Hereditary Syndromes.