Patrick Nusbaum

Hôpital Cochin Port Royal
Paris, France

Last Updated: 09/26/2026

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Found 12 publications

Epigenetic control of myogenic identity of human muscle stem cells in Duchenne muscular dystrophy.

Epigenetic control of myogenic identity of human muscle stem cells in Duchenne muscular dystrophy.

Journal: iScience

Published: May 30, 2023

FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation.

FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation.

Journal: Neurology. Genetics

Published: February 23, 2021

Derivation and Characterization of Immortalized Human Muscle Satellite Cell Clones from Muscular Dystrophy Patients and Healthy Individuals.

Derivation and Characterization of Immortalized Human Muscle Satellite Cell Clones from Muscular Dystrophy Patients and Healthy Individuals.

Journal: Cells

Published: June 29, 2020

Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.

Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.

Journal: Journal of inherited metabolic disease

Published: June 24, 2020

Compromised mitochondrial quality control triggers lipin1-related rhabdomyolysis.

Compromised mitochondrial quality control triggers lipin1-related rhabdomyolysis.

Journal: Cell reports. Medicine

Published: April 01, 2020

Inhibition of IFNα secretion in cells from patients with juvenile dermatomyositis under TBK1 inhibitor treatment revealed by single-molecular assay technology.

Inhibition of IFNα secretion in cells from patients with juvenile dermatomyositis under TBK1 inhibitor treatment revealed by single-molecular assay technology.

Journal: Rheumatology (Oxford, England)

Published: January 24, 2020

Inhibition of IFNα secretion in cells from patients with juvenile dermatomyositis under TBK1 inhibitor treatment revealed by single-molecular assay technology.

Inhibition of IFNα secretion in cells from patients with juvenile dermatomyositis under TBK1 inhibitor treatment revealed by single-molecular assay technology.

Journal: Rheumatology (Oxford, England)

Published: September 24, 2019

TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis.

TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis.

Journal: Nature communications

Published: May 15, 2018

Myogenic Progenitor Cells Exhibit Type I Interferon-Driven Proangiogenic Properties and Molecular Signature During Juvenile Dermatomyositis.

Myogenic Progenitor Cells Exhibit Type I Interferon-Driven Proangiogenic Properties and Molecular Signature During Juvenile Dermatomyositis.

Journal: Arthritis & rheumatology (Hoboken, N.J.)

Published: February 09, 2017

Dual mTORC1/2 inhibition induces anti-proliferative effect in NF1-associated plexiform neurofibroma and malignant peripheral nerve sheath tumor cells.

Dual mTORC1/2 inhibition induces anti-proliferative effect in NF1-associated plexiform neurofibroma and malignant peripheral nerve sheath tumor cells.

Journal: Oncotarget

Published: August 17, 2015

Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells.

Dp412e: a novel human embryonic dystrophin isoform induced by BMP4 in early differentiated cells.

Journal: Skeletal muscle

Published: July 23, 2015

A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia.

A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia.

Journal: PLoS genetics

Published: April 02, 2014

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Last Updated: 09/26/2026