A patient-derived olfactory stem cell disease model for ataxia-telangiectasia

By Stewart Romal   Kozlov Sergei   Matigian Nicholas   Wali Gautam   Gatei Magtouf   Sutharsan Ratneswary   Bellette Bernadette   Wraith-Kijas Amanda   Cochrane Julie   Coulthard Mark   Perry Chris   Sinclair Kate   Mackay-Sim Alan   Lavin Martin F.  

Human Molecular Genetics, Vol. 22, Iss. 12, 2013-06 ,pp. : 2495-2509

Oxford University Press

Access to resources Recommend Favorite

New clues on the origin of the Friedreich ataxia expanded alleles from the analysis of new polymorphisms closely linked to the mutation

By Monticelli Antonella   Giacchetti Manuela   Biase Irene   Pianese Luigi   Turano Mimmo   Pandolfo Massimo   Cocozza Sergio  

Human Genetics, Vol. 114, Iss. 5, 2004-04 ,pp. : 458-463

Springer Publishing Company

Access to resources Recommend Favorite

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein

By Nakamura K.  

Human Molecular Genetics, Vol. 10, Iss. 14, 2001-07 ,pp. : 1441-1448

Oxford University Press

Access to resources Recommend Favorite

The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1

By Parfitt David A.   Michael Gregory J.   Vermeulen Esmeralda G.M.   Prodromou Natalia V.   Webb Tom R.   Gallo Jean-Marc   Cheetham Michael E.   Nicoll William S.   Blatch Gregory L.   Chapple J. Paul  

Human Molecular Genetics, Vol. 18, Iss. 9, 2009-05 ,pp. : 1556-1565

Oxford University Press

Access to resources Recommend Favorite

Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy ( SCA7 )

By David G.  

Human Molecular Genetics, Vol. 7, Iss. 2, 1998-02 ,pp. : 165-170

Oxford University Press

Access to resources Recommend Favorite