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

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

Unresolved questions regarding human hereditary deafness

(2016) AU Rehman et al.   ORAL DISEASES

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

Pathophysiological mechanisms and functional hearing consequences of auditory neuropathy

(2015) Gary Rance et al.   BRAIN

Otoacoustic emissions in newborns evoked by 0.5kHz tone bursts

(2015) W. Wiktor Jedrzejczak et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

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

The hexameric structure of the human mitochondrial replicative helicase Twinkle

(2015) Pablo Fernández-Millán et al.   NUCLEIC ACIDS RESEARCH

Comparison of 3 ABR Methods for Diagnosis of Retrocochlear Hearing Impairment

(2015) Krzysztof M. Kochanek et al.   MEDICAL SCIENCE MONITOR

Does p.Q247X in TRIM63 Cause Human Hypertrophic Cardiomyopathy?

(2014) Rafał Płoski et al.   CIRCULATION RESEARCH

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

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

(2014) H. Morino et al.   NEUROLOGY

Peroxisomal D-bifunctional protein deficiency: Three adults diagnosed by whole-exome sequencing

(2014) M. A. Lines 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

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

MAFFT Multiple Sequence Alignment Software Version 7: Improvements in Performance and Usability

(2013) K. Katoh et al.   MOLECULAR BIOLOGY AND EVOLUTION

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency

(2013) Hugh J McMillan et al.   Orphanet Journal of Rare Diseases

Tone-Burst and Click-Evoked Otoacoustic Emissions in Subjects With Hearing Loss Above 0.25, 0.5, and 1 kHz

(2012) W. Wiktor Jedrzejczak et al.   EAR AND HEARING

The Mitochondrial Connection in Auditory Neuropathy

(2011) Anthony T. Cacace et al.   AUDIOLOGY AND NEURO-OTOLOGY

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

FFAS server: novel features and applications

(2011) L. Jaroszewski 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

Otoacoustic emissions evoked by 0.5 kHz tone bursts

(2009) W. Wiktor Jedrzejczak et al.   JOURNAL OF THE ACOUSTICAL SOCIETY OF AMERICA

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

(2009) Prateek Kumar et al.   Nature Protocols

Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management

(2009) M. Anheim et al.   NEUROGENETICS

Size Matters: Cerebral Volume Influences Sex Differences in Neuroanatomy

(2008) C. M. Leonard et al.   CEREBRAL CORTEX

Perrault Syndrome With Progressive Nervous System Involvement

(2008) Carsten Kobe et al.   CLINICAL NUCLEAR MEDICINE

Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling

(2008) Steffi Goffart et al.   HUMAN MOLECULAR GENETICS