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2000 1
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Page 1
Dystonia: an update on phenomenology, classification, pathogenesis and treatment.
Balint B, Bhatia KP. Balint B, et al. Curr Opin Neurol. 2014 Aug;27(4):468-76. doi: 10.1097/WCO.0000000000000114. Curr Opin Neurol. 2014. PMID: 24978640 Review.
Terminology has changed and 'isolated dystonia' is used wherein dystonia is the only motor feature apart from tremor, and the previously called heredodegenerative dystonias and dystonia plus syndromes are now subsumed under 'combined dystonia'. The rec …
Terminology has changed and 'isolated dystonia' is used wherein dystonia is the only motor feature apart from tremor, and the …
BAP31: Physiological functions and roles in disease.
Quistgaard EM. Quistgaard EM. Biochimie. 2021 Jul;186:105-129. doi: 10.1016/j.biochi.2021.04.008. Epub 2021 Apr 28. Biochimie. 2021. PMID: 33930507 Free article. Review.
Full-length BAP31 can be anti-apoptotic, but can also mediate activation of caspase-8, and itself be cleaved by caspase-8 into p20-BAP31, which promotes apoptosis by mobilizing ER calcium stores at MAMs. BAP31 loss-of-function mutations is the cause of 'deafness, dyston …
Full-length BAP31 can be anti-apoptotic, but can also mediate activation of caspase-8, and itself be cleaved by caspase-8 into p20-BAP31, wh …
The genetics of primary dystonias and related disorders.
Németh AH. Németh AH. Brain. 2002 Apr;125(Pt 4):695-721. doi: 10.1093/brain/awf090. Brain. 2002. PMID: 11912106 Review.
This review details recent advances in our understanding of the genetic basis of dystonias, including the primary dystonias, the 'dystonia-plus' syndromes and heredodegenerative disorders. The review focuses particularly on clinical and genetic features and molecular mecha …
This review details recent advances in our understanding of the genetic basis of dystonias, including the primary dystonias, the 'dystoni …
Protein import into mitochondria.
Paschen SA, Neupert W. Paschen SA, et al. IUBMB Life. 2001 Sep-Nov;52(3-5):101-12. doi: 10.1080/15216540152845894. IUBMB Life. 2001. PMID: 11798021 Free article. Review.
In addition, the molecular basis of a new human mitochondrial disorder is discussed, the Mohr-Tranebjaerg syndrome. This is the first known disease, which is caused by an impaired mitochondrial protein import machinery leading to progressive neurodegeneration …
In addition, the molecular basis of a new human mitochondrial disorder is discussed, the Mohr-Tranebjaerg syndrome. Thi …
The mitochondrial connection in auditory neuropathy.
Cacace AT, Pinheiro JM. Cacace AT, et al. Audiol Neurootol. 2011;16(6):398-413. doi: 10.1159/000323276. Epub 2011 Jan 22. Audiol Neurootol. 2011. PMID: 21266802 Review.
These observations are based on the expression of AN in known mitochondrial-based neurological diseases (Friedreich's ataxia, Mohr-Tranebjaerg syndrome), in conditions where defects in axonal transport, protein trafficking, and fusion processes perturb and/or …
These observations are based on the expression of AN in known mitochondrial-based neurological diseases (Friedreich's ataxia, Mohr- …
Clinical and molecular findings in a patient with a novel mutation in the deafness-dystonia peptide (DDP1) gene.
Binder J, Hofmann S, Kreisel S, Wöhrle JC, Bäzner H, Krauss JK, Hennerici MG, Bauer MF. Binder J, et al. Brain. 2003 Aug;126(Pt 8):1814-20. doi: 10.1093/brain/awg174. Epub 2003 Jun 4. Brain. 2003. PMID: 12805099 Review.
The Mohr-Tranebjaerg syndrome (MTS) is a rare neurodegenerative disorder characterized by early-onset deafness, dystonia and further neurological abnormalities such as cortical blindness, spasticity, dementia and mental retardation. Causative mu …
The Mohr-Tranebjaerg syndrome (MTS) is a rare neurodegenerative disorder characterized by early-onset deafness, …
Protein translocation into mitochondria: the role of TIM complexes.
Bauer MF, Hofmann S, Neupert W, Brunner M. Bauer MF, et al. Trends Cell Biol. 2000 Jan;10(1):25-31. doi: 10.1016/s0962-8924(99)01684-0. Trends Cell Biol. 2000. PMID: 10603473 Review.
This review discusses recent advances in understanding the structure and function of the translocases of the inner membrane and the possible role of Tim proteins in the development of the Mohr-Tranebjaerg syndrome, a mitochondrial disorder leading to neurodeg …
This review discusses recent advances in understanding the structure and function of the translocases of the inner membrane and the possible …
Underappreciated Roles of the Translocase of the Outer and Inner Mitochondrial Membrane Protein Complexes in Human Disease.
Heinemeyer T, Stemmet M, Bardien S, Neethling A. Heinemeyer T, et al. DNA Cell Biol. 2019 Jan;38(1):23-40. doi: 10.1089/dna.2018.4292. Epub 2018 Nov 27. DNA Cell Biol. 2019. PMID: 30481057 Review.
Pathogenic mutations have been identified in the TIMM8A (DDP) and DNAJC19 (TIMM14) genes and are linked to Mohr-Tranebjaerg syndrome and dilated cardiomyopathy syndrome (with and without ataxia), respectively. ...
Pathogenic mutations have been identified in the TIMM8A (DDP) and DNAJC19 (TIMM14) genes and are linked to Mohr-Tranebjaerg …
[Mohr-Tranebjaerg syndrome].
Ohkoshi N. Ohkoshi N. Ryoikibetsu Shokogun Shirizu. 2001;(36):213-6. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11596373 Review. Japanese. No abstract available.
[Mohr-Tranebjaerg syndrome].
Yamamoto K, Ikeda S. Yamamoto K, et al. Nihon Rinsho. 2002 Apr;60 Suppl 4:385-8. Nihon Rinsho. 2002. PMID: 12013893 Review. Japanese. No abstract available.