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American Journal of Medical Genetics. Part A|September 17, 2004
Mosaicism of the CAG repeat sequence in the Huntington disease gene in a pair of monozygotic twinsAnne Nørremølle, Lis Hasholt, Cathrine Bie Petersen, et al.
Journal of the Peripheral Nervous System : JPNS|November 14, 2009
Autonomic skin responses in females with Fabry diseaseAnette T Møller, Flemming W Bach, Ulla Feldt-Rasmussen, et al.
Journal of the Peripheral Nervous System : JPNS|June 22, 2006
Small-fibre neuropathy in female Fabry patients: reduced allodynia and skin blood flow after topical capsaicinAnette T Moller, Ulla Feldt-Rasmussen, Ase K Rasmussen, et al.
Parkinsonism & Related Disorders|July 15, 2009
Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutationSara Bech, Thor Petersen, Anne Nørremølle, et al.
Plos Currents|April 10, 2013
Dysfunctional mitochondrial respiration in the striatum of the Huntington's disease transgenic R6/2 mouse modelFrederik Heurlin Aidt, Signe Marie Borch Nielsen, Jørgen Kanters, et al.
DNA and Cell Biology|February 5, 2008
GLI1 is involved in cell cycle regulation and proliferation of NT2 embryonal carcinoma stem cellsJanni Vestergaard, Allan Lind-Thomsen, Mikkel W Pedersen, et al.
Molecular Genetics and Metabolism|June 7, 2011
Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" α-galactosidase a large deletionUlla Feldt-Rasmussen, Robert Dobrovolny, Irina Nazarenko, et al.
Neurobiology of Disease|August 24, 2010
Reduced gluconeogenesis and lactate clearance in Huntington's diseaseKnud Josefsen, Signe M B Nielsen, André Campos, et al.
European Journal of Heart Failure|May 26, 2010
Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in womenOle Havndrup, Michael Christiansen, Birgitte Stoevring, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 20, 2007
Osteopenia: a common aspect of Fabry disease. Predictors of bone mineral densityHenriette Mersebach, Jan-Ove Johansson, Ase Krogh Rasmussen, et al.
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