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

Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia

(2016) Ayca Kiykim et al.   CLINICAL IMMUNOLOGY

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

Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation

(2015) Marta Kanabus et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

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

Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay

(2013) R. H. Thomas et al.   BRAIN

Unraveling the Mechanism of Protein Disaggregation Through a ClpB-DnaK Interaction

(2013) R. Rosenzweig et al.   SCIENCE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS