Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease

By Wuyts W.  

Human Molecular Genetics, Vol. 11, Iss. 22, 2002-10 ,pp. : 2735-2739

Oxford University Press

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A PYY Q62P variant linked to human obesity

By Ahituv Nadav   Kavaslar Nihan   Ustaszewska Anna   Collier John Michael   Hébert Sybil   Doelle Heather   Dent Robert   Pennacchio Len A.   McPherson Ruth  

Human Molecular Genetics, Vol. 15, Iss. 3, 2006-02 ,pp. : 387-391

Oxford University Press

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Charcot–Marie–Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential

By Noack Rebecca   Frede Svenja   Albrecht Philipp   Henke Nadine   Pfeiffer Annika   Knoll Katrin   Dehmel Thomas   Meyer zu Hörste Gerd   Stettner Mark   Kieseier Bernd C.   Summer Holger   Golz Stefan   Kochanski Andrzej   Wiedau-Pazos Martina   Arnold Susanne   Lewerenz Jan   Methner Axel  

Human Molecular Genetics, Vol. 21, Iss. 1, 2012-01 ,pp. : 150-162

Oxford University Press

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Abnormalities in the functioning of adipocytes from R6/2 mice that are transgenic for the Huntington’s disease mutation

By Fain J.N.  

Human Molecular Genetics, Vol. 10, Iss. 2, 2001-01 ,pp. : 145-152

Oxford University Press

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Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis

By Kennedy Laura  

Human Molecular Genetics, Vol. 12, Iss. 24, 2003-12 ,pp. : 3359-3367

Oxford University Press

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