Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders

Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase

(2018) Bradley Peter et al.   HUMAN MOLECULAR GENETICS

A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome

(2017) Iliana A. Chatzispyrou et al.   HUMAN MOLECULAR GENETICS

Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome

(2017) Monika Ołdak et al.   Journal of Translational Medicine

Mutations ofSGO2andCLDN14collectively cause coincidental Perrault syndrome

(2016) R. Faridi et al.   CLINICAL GENETICS

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

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects

(2016) Tom E. J. Theunissen et al.   Frontiers in Neurology

First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family

(2015) Giulia Soldà et al.   JOURNAL OF HUMAN GENETICS

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

Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency

(2014) Daniel S Lieber et al.   BMC Medical Genetics

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features

(2014) H. Morino et al.   NEUROLOGY

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

Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome

(2013) Sarah B. Pierce et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication

(2013) D. Milenkovic et al.   HUMAN MOLECULAR GENETICS

Perrault syndrome: further evidence for genetic heterogeneity

(2011) Emma M. Jenkinson et al.   JOURNAL OF NEUROLOGY

Next-generation Sequencing Facilitates the Diagnosis in a Child With Twinkle Mutations Causing Cholestatic Liver Failure

(2011) Vi Goh et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Ensembl 2012

(2011) P. Flicek et al.   NUCLEIC ACIDS RESEARCH

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

(2011) S. B. Pierce et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome

(2010) Sarah B. Pierce et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

VarScan: variant detection in massively parallel sequencing of individual and pooled samples

(2009) Daniel C. Koboldt et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

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

(2009) Prateek Kumar et al.   Nature Protocols

Structure–Function Defects of the TWINKLE Linker Region in Progressive External Ophthalmoplegia

(2008) Jenny A. Korhonen et al.   JOURNAL OF MOLECULAR BIOLOGY

Why rare diseases are an important medical and social issue

(2008) Arrigo Schieppati et al.   LANCET