Literature DB >> 34840900

Early-Onset Leptomeningeal Manifestation of G47R Hereditary Transthyretin Amyloidosis.

Laura Cechin1, Jihad Gasmelseed1, James Bashford1, Dorota Rowczenio1, Mary M Reilly1, Julian D Gillmore1, Ester Coutinho1.   

Abstract

Entities:  

Year:  2021        PMID: 34840900      PMCID: PMC8610556          DOI: 10.1212/CPJ.0000000000001054

Source DB:  PubMed          Journal:  Neurol Clin Pract        ISSN: 2163-0402


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  8 in total

1.  Extremely early onset hereditary ATTR amyloidosis with G47R (p.G67R) mutation.

Authors:  Yuya Kobayashi; Yoshiki Sekijima; Yuka Ogawa; Yasufumi Kondo; Daigo Miyazaki; Shu-Ichi Ikeda
Journal:  Amyloid       Date:  2016-05-20       Impact factor: 7.141

2.  The biological and chemical basis for tissue-selective amyloid disease.

Authors:  Yoshiki Sekijima; R Luke Wiseman; Jeanne Matteson; Per Hammarström; Sean R Miller; Anu R Sawkar; William E Balch; Jeffery W Kelly
Journal:  Cell       Date:  2005-04-08       Impact factor: 41.582

Review 3.  Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments.

Authors:  Yoshiki Sekijima
Journal:  J Neurol Neurosurg Psychiatry       Date:  2015-01-20       Impact factor: 10.154

4.  Cerebrospinal fluid and vitreous body exposure to orally administered tafamidis in hereditary ATTRV30M (p.TTRV50M) amyloidosis patients.

Authors:  Cecilia Monteiro; Ana Martins da Silva; Natália Ferreira; Jaleh Mesgarzadeh; Marta Novais; Teresa Coelho; Jeffery W Kelly
Journal:  Amyloid       Date:  2018-07-11       Impact factor: 7.141

5.  Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: a putative novel hot spot' in codon 47.

Authors:  A Ferlini; L Obici; E Manzati; O Biadi; E Tarantino; P Conigli; G Merlini; M D'Alessandro; V Mazzaferro; C A Tassinari; F Salvi
Journal:  Clin Genet       Date:  2000-04       Impact factor: 4.438

Review 6.  Advances in the treatment of hereditary transthyretin amyloidosis: A review.

Authors:  Morie A Gertz; Michelle L Mauermann; Martha Grogan; Teresa Coelho
Journal:  Brain Behav       Date:  2019-08-01       Impact factor: 2.708

7.  Nonbiopsy Diagnosis of Cardiac Transthyretin Amyloidosis.

Authors:  Julian D Gillmore; Mathew S Maurer; Rodney H Falk; Giampaolo Merlini; Thibaud Damy; Angela Dispenzieri; Ashutosh D Wechalekar; John L Berk; Candida C Quarta; Martha Grogan; Helen J Lachmann; Sabahat Bokhari; Adam Castano; Sharmila Dorbala; Geoff B Johnson; Andor W J M Glaudemans; Tamer Rezk; Marianna Fontana; Giovanni Palladini; Paolo Milani; Pierluigi L Guidalotti; Katarina Flatman; Thirusha Lane; Frederick W Vonberg; Carol J Whelan; James C Moon; Frederick L Ruberg; Edward J Miller; David F Hutt; Bouke P Hazenberg; Claudio Rapezzi; Philip N Hawkins
Journal:  Circulation       Date:  2016-04-22       Impact factor: 29.690

8.  Oculoleptomeningeal Amyloidosis associated with transthyretin Leu12Pro in an African patient.

Authors:  P McColgan; S Viegas; S Gandhi; K Bull; R Tudor; F Sheikh; J Pinney; M Fontana; D Rowczenio; J D Gillmore; J A Gilbertson; C J Whelan; S Shah; Z Jaunmuktane; J L Holton; J M Schott; D J Werring; P N Hawkins; M M Reilly
Journal:  J Neurol       Date:  2014-12-09       Impact factor: 4.849

  8 in total

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