Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report

A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?

(2020) Fabio Gotta et al.   ANNALS OF HUMAN GENETICS

Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report

(2020) Kodai Kume et al.   BMC Medical Genetics

Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)

(2020) Elena J. Tucker et al.   HUMAN GENETICS

Progress in diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy

(2019) Carina Bunschoten et al.   LANCET NEUROLOGY

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

(2019) María Domínguez-Ruiz et al.   Journal of Translational Medicine

Broadening the phenotype of the TWNK gene associated Perrault syndrome

(2019) Bálint Fekete et al.   BMC Medical Genetics

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

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

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

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Pathophysiological mechanisms and functional hearing consequences of auditory neuropathy

(2015) Gary Rance et al.   BRAIN

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

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

(2014) H. Morino et al.   NEUROLOGY

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

European Federation of Neurological Societies/Peripheral Nerve Society Guideline on management of chronic inflammatory demyelinating polyradiculoneuropathy: Report of a joint task force of the European Federation of Neurological Societies and the Peripher

(2010) P. Y. K. Van den Bergh et al.   EUROPEAN JOURNAL OF NEUROLOGY

ERAL1 is associated with mitochondrial ribosome and elimination of ERAL1 leads to mitochondrial dysfunction and growth retardation

(2010) Takeshi Uchiumi et al.   NUCLEIC ACIDS RESEARCH

A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy

(2008) Montserrat Rodríguez-Ballesteros et al.   HUMAN MUTATION

The frequency of auditory neuropathy detected by universal newborn hearing screening program

(2008) Gunay Kirkim et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

Evidence for surviving outer hair cell function in congenitally deaf ears

(2003) Peter A. Rea et al.   LARYNGOSCOPE