AELIP

Asociación AELIP

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Publicaciones


  1. Luedtke A, Boschmann M, Colpe C, Engeli S, Adams F, Birkenfeld AL, Haufe S, Rahn G, Luft FC, Schmidt HH, Jordan J. 2012. Thiazolidinedione response in familial lipodystrophy patients with LMNA mutations: A case series. Hormone and Metabolic Reserarch. Horm Metab Res 44:306-311.
  2. Graul-Neumann LM, Kienitz T, Robinson PN, Baasanjav S, Karow B, Gillessen-Kaesbach G, Fahsold R, Schmidt H, Hoffmann K, Passarge E. 2010. Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene. Am J Med Genet 152:2749-55.
  3. Lüdtke A, Roos GM, van Hettinga M, Horst BAJ, Worman HJ, Schmidt HH. 2010. Postmortem findings in Dunnigan-type familial partial lipodystrophy. Diabetic Medicine, 27:245-6.
  4. Perrot A, Hussein S, Ruppert V, Schmidt HH, Wehnert MS, Duong NT, Posch MG, Panek A, Dietz R, Kindermann I, Böhm M, Michalewska-Wludarczyk A, Richter A, Maisch B, Pankuweit S, Ozcelik C. 2009. Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy. Basic Res Cardiology 104:90-9.
  5. Lüdtke A, Buettner J, Wu W, Muchir A, Schroeter A, Zinn-Justin S, Spuler S,  Wormann H.J, Schmidt HH. 2007. Peroxisome proliferator-activated receptor gamma C190S mutation causes partial lipodystrophy. J Clin Endocrinol Metab 92:2248-55.
  6. Spuler S, Kalbhenn T, Zabojszcza J, van Landeghem FK, Lüdtke A, Wenzel K, Köhnlein M, Schülke M, Lüdemann L, Schmidt HH. 2007. Muscle and nerve pathology in Dunnigan familial partial lipodystrophy. Neurology  68:677-83.
  7. Perrot A, Sigusch HH, Nägele H, Genschel J, Lehmkuhl H, Hetzer R, Geier C, Leon Perez V, Reinhard D, Dietz R, Osterziel KJ, Schmidt HH. 2006. Genetic and phenotypic analysis of dilated cardiomyopathy with conduction system disease: Demand for strategies in the management of presymptomatic lamin A/C mutant carriers. Eur J Heart Fail 8:484-93.
  8. Lüdtke A, Genschel J, Brabant G, Bauditz J, Taupitz M, Koch M, Wermke W, Worman HJ, Schmidt HH. 2005. Hepatic steatosis in Dunnigan-type familial partial lipodystrophy. Am J Gastroenterol 100:2218-24.
  9. Spuler S, Geier C, Osterziel KJ, Gutberlet M, Genschel J, Lehmann TN, Zinn-Justin S, Gilquin B, Schmidt HH. 2005. A new LMNA mutation causing limb girdle muscular dystrophy 1B. J Neurol 252:621-623.
  10. Shackleton S, Lloyd DJ, Jackson SNJ, Evans R, Niermeijer MF, Singh BM, Schmidt H, Brabant G, Kumar S, Durrington PN, Gregory S, O´Rahilly S, Trembath RC. 2000. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nat Genet 24:153-156.
Publicaciones
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