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Detailed characterization of auditory neuropathy in Perrault syndrome with TWNK variants

Auris, nasus, larynx, 2024-12, Vol.51 (6), p.933-939

2024

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Reply to: No Association between Rare TWNK Variants and Parkinson's Disease in European Cohorts

Movement disorders, 2022-11, Vol.37 (11), p.2319-2320

2022

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Consequences of compromised mitochondrial genome integrity

DNA repair, 2020-09, Vol.93, p.102916-102916, Article 102916

2020

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TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study

Movement disorders, 2022-09, Vol.37 (9), p.1938-1943

2022

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A homozygous mutation of TWNK identified in premature ovarian insufficiency warns of late-onset perrault syndrome

European journal of obstetrics & gynecology and reproductive biology, 2024-08, Vol.299, p.118-123

2024

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Characteristics of globus pallidus internus local field potentials in generalized dystonia patients with TWNK mutation

Clinical neurophysiology, 2020-07, Vol.131 (7), p.1453-1461

2020

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

BMC medical genomics, 2023-11, Vol.16 (1), p.1-278, Article 278

2023

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

Annals of human genetics, 2020-09, Vol.84 (5), p.417-422

2020

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Nucleoside supplements as treatments for mitochondrial DNA depletion syndrome

Frontiers in cell and developmental biology, 2024-04, Vol.12, p.1260496-1260496

2024

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TFAM knockdown-triggered mtDNA-nucleoid aggregation and a decrease in mtDNA copy number induce the reorganization of nucleoid populations and mitochondria-associated ER-membrane contacts

Biochemistry and biophysics reports, 2021-12, Vol.28, p.101142-101142, Article 101142

2021

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Rare Gene Mutations in Romanian Hypoacusis Patients: Case Series and a Review of the Literature

Medicina (Kaunas, Lithuania), 2022-09, Vol.58 (9), p.1252

2022

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

Journal of translational medicine, 2017-02, Vol.15 (1), p.25-25, Article 25

2017

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Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations

Journal of clinical medicine, 2021-12, Vol.11 (1), p.22

2021

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

Journal of translational medicine, 2019-08, Vol.17 (1), p.290-290, Article 290

2019

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A Novel Missense Mutation in TWNK Gene Causing Perrault Syndrome Type 5 in a Chinese Family and Review of the Literature

Pharmacogenomics and personalized medicine, 2022-01, Vol.15 (1), p.1-8

2022

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Broadening the phenotype of the TWNK gene associated Perrault syndrome

BMC medical genetics, 2019-12, Vol.20 (1), p.198-198, Article 198

2019

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

BMC medical genetics, 2020-03, Vol.21 (1), p.68-4, Article 68

2020

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Expanding phenotype of mitochondrial depletion syndrome in association with TWNK mutations

European journal of paediatric neurology, 2019-05, Vol.23 (3), p.537-540

2019

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Mutation of TWNK Gene Is One of the Reasons of Runting and Stunting Syndrome Characterized by mtDNA Depletion in Sex-Linked Dwarf Chicken

Frontiers in cell and developmental biology, 2020-07, Vol.8, p.581-581

2020

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Clinical and genetic analysis of a patient with Perrault syndrome and additional neurological features

Zhonghua yi xue yi chuan xue za zhi, 2019-06, Vol.36 (6), p.577

2019

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Novel and recurrent nuclear gene variations in a cohort of Chinese progressive external ophthalmoplegia patients with multiple mtDNA deletions

Molecular genetics & genomic medicine, 2022-05, Vol.10 (5), p.e1921-n/a

2022

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Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation

Genes, 2020-12, Vol.12 (1), p.54

2020

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Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA

Cells (Basel, Switzerland), 2021-11, Vol.10 (12), p.3354

2021

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Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report

BMC medical genetics, 2019-08, Vol.20 (1), p.146-146, Article 146

2019

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Detailed characterization of auditory neuropathy in Perrault syndrome with TWNK variants

Reply to: No Association between Rare TWNK Variants and Parkinson's Disease in European Cohorts

Consequences of compromised mitochondrial genome integrity

TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study

A homozygous mutation of TWNK identified in premature ovarian insufficiency warns of late-onset perrault syndrome

Characteristics of globus pallidus internus local field potentials in generalized dystonia patients with TWNK mutation

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

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

Nucleoside supplements as treatments for mitochondrial DNA depletion syndrome

TFAM knockdown-triggered mtDNA-nucleoid aggregation and a decrease in mtDNA copy number induce the reorganization of nucleoid populations and mitochondria-associated ER-membrane contacts

Rare Gene Mutations in Romanian Hypoacusis Patients: Case Series and a Review of the Literature

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

Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations

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

A Novel Missense Mutation in TWNK Gene Causing Perrault Syndrome Type 5 in a Chinese Family and Review of the Literature

Broadening the phenotype of the TWNK gene associated Perrault syndrome

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

Expanding phenotype of mitochondrial depletion syndrome in association with TWNK mutations

Mutation of TWNK Gene Is One of the Reasons of Runting and Stunting Syndrome Characterized by mtDNA Depletion in Sex-Linked Dwarf Chicken

Clinical and genetic analysis of a patient with Perrault syndrome and additional neurological features

Novel and recurrent nuclear gene variations in a cohort of Chinese progressive external ophthalmoplegia patients with multiple mtDNA deletions

Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation

Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA

Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report

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