• A contiguous deletion syndrome of X-linked agammaglobulinemia and sensorineural deafness
• A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
• A misleading presentation of Mohr-Tranebjaerg syndrome: What is hidden behind an axonal neuropathy?
• A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22
• A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr-Tranebjaerg syndrome
• A novel intronic mutation in the DDP1 gene in a family with X-linked dystonia-deafness syndrome
• A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr-Tranebjaerg) syndrome
• A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness
• A Spanish sporadic case of deafness-dystonia (Mohr-Tranebjaerg) syndrome with a novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes
• ACTB gene mutation in combined Dystonia-Deafness syndrome with parkinsonism: Expanding the phenotype and highlighting the long-term GPi DBS outcome
• BAP31: Physiological functions and roles in disease
• Bilateral Globus Pallidus Internus Deep Brain Stimulation in a Case of Progressive Dystonia in Mohr-Tranebjaerg Syndrome with Bilateral Cochlear Implants
• Blepharospasm and limb dystonia caused by Mohr-Tranebjaerg syndrome with a novel splice-site mutation in the deafness/dystonia peptide gene
• Case report: Mohr-Tranebjaerg syndrome: hearing impairment as the onset of an insidious disorder with high recurrence risk
• Clinical and molecular findings in a patient with a novel mutation in the deafness-dystonia peptide (DDP1) gene
• Cognitive dysfunction in mitochondrial disorders
• Commentary
• Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes
• Correction: Function of hTim8a in complex IV assembly in neuronal cells provides insight into pathomechanism underlying Mohr-Tranebjaerg syndrome
• Deafness-Dystonia-Optic Neuronopathy Syndrome
• Deoxyribonucleic acid contamination in archival human temporal bones: a potentially significant problem
• Distinct Clinical Features and Novel Mutations in Taiwanese Patients With X-Linked Agammaglobulinemia
• Dystonia in the Mohr-Tranebjaerg syndrome responds to GABAergic substances
• Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation
• Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation
• Exploring the Oncogenic Potential of TIMM8A: A Crucial Factor in Breast Cancer Tumorigenesis
• First replication that biallelic variants in FITM2 cause a complex deafness-dystonia syndrome
• First Report of a Filipino with Mohr-Tranebjaerg Syndrome
• Focal dystonia caused by Mohr-Tranebjaerg syndrome with complete deletion of the DDP1 gene
• Full-field electroretinograms in a family with Mohr-Tranebjaerg syndrome
• Function of hTim8a in complex IV assembly in neuronal cells provides insight into pathomechanism underlying Mohr-Tranebjaerg syndrome
• Functional analysis of a novel mutation in the TIMM8A gene that causes deafness-dystonia-optic neuronopathy syndrome
• Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes
• Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex
• Identification and analysis of deletion breakpoints in four Mohr-Tranebjaerg syndrome (MTS) patients
• Import of proteins into mitochondria: a novel pathomechanism for progressive neurodegeneration
• Inheritance of skewed X chromosome inactivation in a large family with an X-linked recessive deafness syndrome
• Long-Term Follow-Up with Video of a Patient with Deafness-Dystonia Syndrome Treated with DBS-GPi
• Mohr-Tranebjaerg syndrome
• Mohr-Tranebjaerg syndrome
• Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness
• Molecular genetics of a patient with Mohr-Tranebjaerg Syndrome due to a new mutation in the DDP1 gene
• Neurodegenerative changes detected by neuroimaging in a patient with contiguous X-chromosome deletion syndrome encompassing <em>BTK</em> and <em>TIMM8A</em> genes
• Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import
• Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene
• Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss
• One case report of Mohr-Tranebjaerg syndrome
• Otopathology in Mohr-Tranebjaerg syndrome
• Phenotype prediction of Mohr-Tranebjaerg syndrome (MTS) by genetic analysis and initial auditory neuropathy
• Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases
• Progressive dystonia in Mohr-Tranebjaerg syndrome with cochlear implant and deep brain stimulation
• Protein import into mitochondria
• Protein translocation into mitochondria: the role of TIM complexes
• Role of the deafness dystonia peptide 1 (DDP1) in import of human Tim23 into the inner membrane of mitochondria
• Spiral ganglion deficiency in adult-onset deafness-dystonia syndrome
• Survey of human mitochondrial diseases using new genomic/proteomic tools
• Temporal bone histopathologic and genetic studies in Mohr-Tranebjaerg syndrome (DFN-1)
• The C66W mutation in the deafness dystonia peptide 1 (DDP1) affects the formation of functional DDP1.TIM13 complexes in the mitochondrial intermembrane space
• The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex
• The mitochondrial connection in auditory neuropathy
• The mitochondrial TIM22 preprotein translocase is highly conserved throughout the eukaryotic kingdom
• The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome
• The role of the TIM8-13 complex in the import of Tim23 into mitochondria
• The syndrome of deafness-dystonia: clinical and genetic heterogeneity
• Underappreciated Roles of the Translocase of the Outer and Inner Mitochondrial Membrane Protein Complexes in Human Disease
• Vulnerability of retinal ganglion cells to mitochondrial defects
• X-linked recessive deafness-dystonia syndrome (Mohr-Tranebjaerg syndrome)
• XLMR genes: update 1998
• Xq22.1 contiguous gene deletion syndrome of X-linked agammaglobulinemia and Mohr-Tranebjaerg syndrome