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Items: 10

Select item 47319251.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Article PDF–1.6M

Select item 41391642.

Repurposing Diflunisal for Familial Amyloid Polyneuropathy: A Randomized Clinical Trial

John L. Berk, Ole B. Suhr, Laura Obici, Yoshiki Sekijima, Steven R. Zeldenrust, Taro Yamashita, Michael A. Heneghan, Peter D. Gorevic, William J. Litchy, Janice F. Wiesman, Erik Nordh, Manuel Corato, Alessandro Lozza, Andrea Cortese, Jessica Robinson-Papp, Theodore Colton, Denis V. Rybin, Alice B. Bisbee, Yukio Ando, Shu-ichi Ikeda, David C. Seldin, Giampaolo Merlini, Martha Skinner, Jeffery W. Kelly, Peter J. Dyck, for the Diflunisal Trial Consortium

JAMA. Author manuscript; available in PMC 2014 Aug 20.

Published in final edited form as: JAMA. 2013 Dec 25; 310(24): 2658–2667. doi: 10.1001/jama.2013.283815

PMCID:: PMC4139164

Article PDF–496K

Select item 40988753.

Tafamidis for transthyretin familial amyloid polyneuropathy: A randomized, controlled trial

Teresa Coelho, Luis F. Maia, Ana Martins da Silva, Marcia Waddington Cruz, Violaine Planté-Bordeneuve, Pierre Lozeron, Ole B. Suhr, Josep M. Campistol, Isabel Maria Conceição, Hartmut H.-J. Schmidt, Pedro Trigo, Jeffery W. Kelly, Richard Labaudinière, Jason Chan, Jeff Packman, Amy Wilson, Donna R. Grogan

Neurology. 2012 Aug 21; 79(8): 785–792. doi: 10.1212/WNL.0b013e3182661eb1

PMCID:: PMC4098875

Article PDF–524K

Select item 27389454.

Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population

Urban Hellman, Flora Alarcon, Hans Eric Lundgren, Ole Suhr, Catherine Bonaïti-Pellié, Violaine Planté-Bordeneuve

Amyloid. Author manuscript; available in PMC 2009 Sep 8.

Published in final edited form as: Amyloid. 2008 Sep; 15(3): 181–186. doi: 10.1080/13506120802193720

PMCID:: PMC2738945

Select item 18674285.

Homozygous Transthyretin Mutation in an African American Male

Eapen K. Jacob, William D. Edwards, Mark Zucker, Cyril D’Cruz, Surya V. Seshan, Frank W. Crow, W. Edward Highsmith

J Mol Diagn. 2007 Feb; 9(1): 127–131. doi: 10.2353/jmoldx.2007.060061

PMCID:: PMC1867428

Article PDF–2.1M

Select item 17387396.

Familial leptomeningeal amyloidosis with a transthyretin variant Asp18Gly representing repeated subarachnoid haemorrhages with superficial siderosis

K Jin, S Sato, T Takahashi, H Nakazaki, Y Date, M Nakazato, T Tominaga, Y Itoyama, S Ikeda

J Neurol Neurosurg Psychiatry. 2004 Oct; 75(10): 1463–1466. doi: 10.1136/jnnp.2003.029942

PMCID:: PMC1738739

Summary PDF–158K

Select item 17353187.

Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families

V Plante-Bordeneuve, J Carayol, A Ferreira, D Adams, F Clerget-Darpoux, M Misrahi, G Said, C Bonaiti-Pellie

J Med Genet. 2003 Nov; 40(11): e120. doi: 10.1136/jmg.40.11.e120

PMCID:: PMC1735318

Summary PDF–345K

Select item 17221648.

Ocular manifestations of familial amyloidotic polyneuropathy type I: long term follow up

E. Ando, Y. Ando, R. Okamura, M. Uchino, M. Ando, A. Negi

Br J Ophthalmol. 1997 Apr; 81(4): 295–298. doi: 10.1136/bjo.81.4.295

PMCID:: PMC1722164

Summary PDF–102K

Select item 16837489.

A homozygous transthyretin variant associated with senile systemic amyloidosis: evidence for a late-onset disease of genetic etiology.

D R Jacobson, P D Gorevic, J N Buxbaum

Am J Hum Genet. 1990 Jul; 47(1): 127–136.

PMCID:: PMC1683748

Summary Page Browse PDF–1.8M

Select item 104986310.

Geographical distribution of TTR met30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate.

G Holmgren, P M Costa, C Andersson, K Asplund, L Steen, L Beckman, P O Nylander, A Teixeira, M J Saraiva, P P Costa

J Med Genet. 1994 May; 31(5): 351–354. doi: 10.1136/jmg.31.5.351

PMCID:: PMC1049863

Summary Page Browse PDF–659K

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