CLPB Deficiency Associated Neonatal Cavitating Leukoencephalopathy: A Potential Pathomechanism Underlying Neurologic Disorder

Microcephaly in Neurometabolic Diseases

(2022) Wiktoria Kempińska et al.   Children-Basel

Unique structural features govern the activity of a human mitochondrial AAA+ disaggregase, Skd3

(2022) Ryan R. Cupo et al.   Cell Reports

Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency

(2021) Saskia B. Wortmann et al.   GENETICS IN MEDICINE

A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients

(2017) Ewa Pronicka et al.   JOURNAL OF INHERITED METABOLIC DISEASE

CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria

(2015) Carol Saunders et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder

(2015) Saskia B. Wortmann et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disruption ofCLPBis associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria

(2015) José-Mario Capo-Chichi et al.   JOURNAL OF MEDICAL GENETICS