Disease: Mohr-Tranebjaerg syndrome
- 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