Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects

Expanding the genotypic spectrum of Perrault syndrome

(2016) L.A.M. Demain et al.   CLINICAL GENETICS

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature

(2016) Justine Lerat et al.   HUMAN MUTATION

A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family

(2016) Fatma Dursun et al.   Journal of Clinical Research in Pediatric Endocrinology

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

(2015) Yongwook Choi et al.   BIOINFORMATICS

Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation

(2015) Manjunath Netravathi et al.   BMC Medical Genetics

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion

(2015) Nicholas M. Allen et al.   EPILEPSIA

Exome sequencing reveals a novel WDR45 frameshift mutation and inherited POLR3A heterozygous variants in a female with a complex phenotype and mixed brain MRI findings

(2015) Mohamed Khalifa et al.   European Journal of Medical Genetics

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

(2015) Martina Huemer et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients

(2015) Rosalba Carrozzo et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering

(2015) Daniyal Daud et al.   JOURNAL OF NEUROLOGY

Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3

(2015) Saleem Ahmed et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms

(2015) Alissa M. D’Gama et al.   NEURON

Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease

(2013) Emma M. Jenkinson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology

(2013) William J Craigen et al.   BMC Medical Genetics

Mitochondrial Quality Control: Impact on Aging and Life Span - A Mini-Review

(2013) Heinz D. Osiewacz et al.   GERONTOLOGY

Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors

(2013) S. Gispert et al.   HUMAN MOLECULAR GENETICS

Leukoencephalopathy with thalamus and brainstem involvement and high lactate ‘LTBL’ caused by EARS2 mutations

(2012) Marjan E. Steenweg et al.   BRAIN

Homozygosity Mapping and Whole-Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia

(2011) Andrew R. Cullinane et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Mitochondrial stress signaling: a pathway unfolds

(2007) Sarah A. Broadley et al.   TRENDS IN CELL BIOLOGY