Literature DB >> 14627687

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

V Planté-Bordeneuve, J Carayol, A Ferreira, D Adams, F Clerget-Darpoux, M Misrahi, G Said, C Bonaïti-Pellié.   

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Year:  2003        PMID： 14627687      PMCID： PMC1735318          DOI： 10.1136/jmg.40.11.e120

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  25 in total

1.  PEL: an unbiased method for estimating age-dependent genetic disease risk from pedigree data unselected for family history.

Authors:  F Alarcon; C Bourgain; M Gauthier-Villars; V Planté-Bordeneuve; D Stoppa-Lyonnet; C Bonaïti-Pellié
Journal:  Genet Epidemiol       Date:  2009-07       Impact factor: 2.135

2.  Non-parametric estimation of survival in age-dependent genetic disease and application to the transthyretin-related hereditary amyloidosis.

Authors:  Flora Alarcon; Violaine Planté-Bordeneuve; Malin Olsson; Grégory Nuel
Journal:  PLoS One       Date:  2018-09-25       Impact factor: 3.240

Review 3.  Amyloid neuropathies.

Authors:  Susan C Shin; Jessica Robinson-Papp
Journal:  Mt Sinai J Med       Date:  2012 Nov-Dec

Review 4.  Current and Future Treatment Approaches in Transthyretin Familial Amyloid Polyneuropathy.

Authors:  Philippe Kerschen; Violaine Planté-Bordeneuve
Journal:  Curr Treat Options Neurol       Date:  2016-12       Impact factor: 3.598

5.  TTR familial amyloid polyneuropathy: does a mitochondrial polymorphism entirely explain the parent-of-origin difference in penetrance?

Authors:  Bernard Bonaïti; Malin Olsson; Urban Hellman; Ole Suhr; Catherine Bonaïti-Pellié; Violaine Planté-Bordeneuve
Journal:  Eur J Hum Genet       Date:  2010-03-17       Impact factor: 4.246

6.  A possible role for miRNA silencing in disease phenotype variation in Swedish transthyretin V30M carriers.

Authors:  Malin Olsson; Nina Norgren; Konen Obayashi; Violaine Plante-Bordeneuve; Ole B Suhr; Kristina Cederquist; Jenni Jonasson
Journal:  BMC Med Genet       Date:  2010-09-14       Impact factor: 2.103

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

Authors:  Urban Hellman; Flora Alarcon; Hans-Erik Lundgren; Ole B Suhr; Catherine Bonaiti-Pellié; Violaine Planté-Bordeneuve
Journal:  Amyloid       Date:  2008-09       Impact factor: 7.141

8.  A Missense Variant p.Ala117Ser in the Transthyretin Gene of a Han Chinese Family with Familial Amyloid Polyneuropathy.

Authors:  Qian Chen; Lamei Yuan; Xiong Deng; Zhijian Yang; Shengwang Zhang; Sheng Deng; Hongwei Lu; Hao Deng
Journal:  Mol Neurobiol       Date:  2017-07-31       Impact factor: 5.590

Review 9.  Impact of Genetic Testing in Transthyretin (ATTR) Cardiac Amyloidosis.

Authors:  Deepa M Gopal; Frederick L Ruberg; Omar K Siddiqi
Journal:  Curr Heart Fail Rep       Date:  2019-10

10.  The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.

Authors:  Jan Senderek; Petra Lassuthova; Dagmara Kabzińska; Lisa Abreu; Jonathan Baets; Christian Beetz; Geir J Braathen; David Brenner; Joline Dalton; Lois Dankwa; Tine Deconinck; Peter De Jonghe; Bianca Dräger; Katja Eggermann; Melina Ellis; Carina Fischer; Tanya Stojkovic; David N Herrmann; Rita Horvath; Helle Høyer; Stephan Iglseder; Marina Kennerson; Katharina Kinslechner; Jennefer N Kohler; Ingo Kurth; Nigel G Laing; Phillipa J Lamont; Löscher Wolfgang N; Albert Ludolph; Wilson Marques; Garth Nicholson; Royston Ong; Susanne Petri; Gianina Ravenscroft; Adriana Rebelo; Giulia Ricci; Sabine Rudnik-Schöneborn; Anja Schirmacher; Beate Schlotter-Weigel; Ludger Schoels; Rebecca Schüle; Matthis Synofzik; Bruno Francou; Tim M Strom; Johannes Wagner; David Walk; Julia Wanschitz; Daniela Weinmann; Jochen Weishaupt; Manuela Wiessner; Reinhard Windhager; Peter Young; Stephan Züchner; Stefan Toegel; Pavel Seeman; Andrzej Kochański; Michaela Auer-Grumbach
Journal:  Neurology       Date:  2020-11-03       Impact factor: 9.910
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