Carmine Spampanato

Naples, Italy

Last Updated: 09/26/2026

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Found 14 publications

Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.

Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.

Journal: American journal of human genetics

Published: September 26, 2025

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.

Journal: Genetics in medicine open

Published: May 05, 2025

Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes.

Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes.

Journal: Neurology. Genetics

Published: March 20, 2025

Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders.

Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders.

Journal: The EMBO journal

Published: August 17, 2022

TFEB controls vascular development by regulating the proliferation of endothelial cells.

TFEB controls vascular development by regulating the proliferation of endothelial cells.

Journal: The EMBO journal

Published: September 18, 2017

Duplication of Yq- and proximal Yp-arms with deletion of almost all PAR1 (including SHOX) in a young man with non-obstructive azoospermia, short stature and skeletal defects.

Duplication of Yq- and proximal Yp-arms with deletion of almost all PAR1 (including SHOX) in a young man with non-obstructive azoospermia, short stature and skeletal defects.

Journal: Journal of applied genetics

Published: July 23, 2017

A case of polimalformed fetus with a microdeletion of CTNNA3 gene.

A case of polimalformed fetus with a microdeletion of CTNNA3 gene.

Journal: Journal of prenatal medicine

Published: July 21, 2017

Lysosome signaling controls the migration of dendritic cells.

Lysosome signaling controls the migration of dendritic cells.

Journal: Science immunology

Published: September 20, 2016

Early outcome of high energy Laser (Excimer) facilitated coronary angioplasty ON hARD and complex calcified and balloOn-resistant coronary lesions: LEONARDO Study.

Early outcome of high energy Laser (Excimer) facilitated coronary angioplasty ON hARD and complex calcified and balloOn-resistant coronary lesions: LEONARDO Study.

Journal: Cardiovascular revascularization medicine : including molecular interventions

Published: October 20, 2014

Congenital megaurethra in a fetus with Meckel syndrome and in a fetus with female pseudoermanphroditism. The first report of these occurrences.

Congenital megaurethra in a fetus with Meckel syndrome and in a fetus with female pseudoermanphroditism. The first report of these occurrences.

Journal: Journal of prenatal medicine

Published: April 01, 2014

Simvastatin reduces melanoma progression in a murine model.

Simvastatin reduces melanoma progression in a murine model.

Journal: International journal of oncology

Published: May 15, 2013

What else is in store for autophagy? Exocytosis of autolysosomes as a mechanism of TFEB-mediated cellular clearance in Pompe disease.

What else is in store for autophagy? Exocytosis of autolysosomes as a mechanism of TFEB-mediated cellular clearance in Pompe disease.

Journal: Autophagy

Published: May 15, 2013

Showing 1-12 of 14

Last Updated: 09/26/2026