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MOHR-TRANEBJAERG SYNDROME

Known as: Deafness (DFN-1) dystonia, mental deficiency and blindness, Deafness dystonia syndrome, DEAFNESS-DYSTONIA-OPTIC ATROPHY SYNDROME 
 
National Institutes of Health

Papers overview

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Highly Cited
2010
Highly Cited
2010
  • P. Borry
  • European Journal of Human Genetics
  • 2010
  • Corpus ID: 969533
Many private companies offer direct-to-consumer (DTC) genetic testing services. Some tests may detect severe and highly penetrant… Expand
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Review
2009
Review
2009
Most mitochondrial proteins are synthesized on cytosolic ribosomes and must be imported across one or both mitochondrial… Expand
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Highly Cited
2006
Highly Cited
2006
P-glycoprotein (P-gp; ABCB1) actively transports a broad range of structurally unrelated compounds out of the cell. An important… Expand
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Highly Cited
2006
Highly Cited
2006
Import of proteins into mitochondria occurs by coordinated actions of preprotein translocases in the outer and inner membranes… Expand
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Highly Cited
2002
Highly Cited
2002
Mohr-Tranebjaerg syndrome (MTS/DFN-1) or deafness/dystonia syndrome results from a mutation in deafness/dystonia protein 1… Expand
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Highly Cited
2001
Highly Cited
2001
  • T. Loo, D. Clarke
  • The Journal of Biological Chemistry
  • 2001
  • Corpus ID: 37073637
Defining the residues involved in the binding of a substrate provides insight into how the human multidrug resistance P… Expand
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Highly Cited
1999
Highly Cited
1999
The human deafness dystonia syndrome results from the mutation of a protein (DDP) of unknown function. We show now that DDP is a… Expand
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Review
1999
Review
1999
Since the Seventh Fragile X and XLMR Mental Retardation (XLMR) Workshop in 1995, the genes for Coffin-Lowry, Mohr-Tranebjaerg… Expand
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Highly Cited
1996
Highly Cited
1996
In 1960, progressive sensorineural deafness (McKu-sick 304700, DFN-1) was shown to be X-linked based on a description of a large… Expand
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Highly Cited
1995
Highly Cited
1995
Recently a new tetrazolium was described for the use of monitoring cell viability in culture. This tetrazolium, commonly referred… Expand
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