Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.

By Thönnissen Eva   Rabionet Raquel   Arbonès Maria   Estivill Xavier   Willecke Klaus   Ott Thomas  

Human Genetics, Vol. 111, Iss. 2, 2002-08 ,pp. : 190-197

Springer Publishing Company

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Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a–TIMM13 complex

By Tranebjaerg L.   Roesch K.   Curran S.P.   Koehler C.M.  

Human Molecular Genetics, Vol. 11, Iss. 5, 2002-03 ,pp. : 477-486

Oxford University Press

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MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels

By Xiong Lan   Catoire Hlne   Dion Patrick   Gaspar Claudia   Lafrenire Ronald G.   Girard Simon L.   Levchenko Anastasia   Rivire Jean-Baptiste   Fiori Laura   St-Onge Judith   Bachand Isabelle   Thibodeau Pascale   Allen Richard   Earley Christopher   Turecki Gustavo   Montplaisir Jacques   Rouleau Guy A.  

Human Molecular Genetics, Vol. 18, Iss. 6, 2009-03 ,pp. : 1065-1074

Oxford University Press

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Relative tissue expression of homologous torsinB correlates with the neuronal specific importance of DYT1 dystonia-associated torsinA

By Jungwirth Michael   Dear Mary Lynn   Brown Patricia   Holbrook Kristen   Goodchild Rose  

Human Molecular Genetics, Vol. 19, Iss. 5, 2010-03 ,pp. : 888-900

Oxford University Press

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Elucidation of separate, but collaborative functions of the rRNA methyltransferase-related human mitochondrial transcription factors B1 and B2 in mitochondrial biogenesis reveals new insight into maternally inherited deafness

By Cotney Justin   McKay Sharen E.   Shadel Gerald S.  

Human Molecular Genetics, Vol. 18, Iss. 14, 2009-07 ,pp. : 2670-2682

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