Literature DB >> 25169240

Diagnostic genetic testing for Huntington's disease.

David Craufurd1, Rhona MacLeod1, Marina Frontali2, Oliver Quarrell3, Emilia K Bijlsma4, Mary Davis5, Lena Elisabeth Hjermind6, Nayana Lahiri7, Paola Mandich8, Asunción Martinez9, Aad Tibben4, Raymund A Roos10.   

Abstract

Entities:  

Keywords:  HUNTINGTON-S; NEUROGENETICS

Mesh：

Year:  2014        PMID： 25169240     DOI： 10.1136/practneurol-2013-000790

Source DB:  PubMed          Journal:  Pract Neurol        ISSN： 1474-7758


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  6 in total

1.  Complexities of Genetic Counseling for ALS: A Case of Two Siblings with Discordant Genetic Test Results.

Authors:  Paola Mandich; Vittorio Mantero; Simonetta Verdiani; Fabio Gotta; Claudia Caponnetto; Emilia Bellone; Giovanna Ferrandes; Paola Origone
Journal:  J Genet Couns       Date:  2015-04-07       Impact factor: 2.537

2.  Preventive pharmacological treatment in subjects at risk for fatal familial insomnia: science and public engagement.

Authors:  Gianluigi Forloni; Ignazio Roiter; Vladimiro Artuso; Manuel Marcon; Walter Colesso; Elviana Luban; Ugo Lucca; Mauro Tettamanti; Elisabetta Pupillo; Veronica Redaelli; Francesco Mariuzzo; Giulia Boscolo Buleghin; Alice Mariuzzo; Fabrizio Tagliavini; Roberto Chiesa; Anna Ambrosini
Journal:  Prion       Date:  2022-12       Impact factor: 2.547

3.  Examination of Huntington's disease with atypical clinical features in a Bangladeshi family tree.

Authors:  Md Mahfuz Al-Mamun; Suprovath Kumar Sarker; Syeda Kashfi Qadri; Tahmina Shirin; Quazi Deen Mohammad; Regina LaRocque; Elinor K Karlsson; Narayan Saha; Muhammad Asaduzzaman; Firdausi Qadri; Md Kaiissar Mannoor
Journal:  Clin Case Rep       Date:  2016-11-11

4.  "Be an ambassador for change that you would like to see": a call to action to all stakeholders for co-creation in healthcare and medical research to improve quality of life of people with a neuromuscular disease.

Authors:  Anna Ambrosini; Ros Quinlivan; Valeria A Sansone; Ingeborg Meijer; Guus Schrijvers; Aad Tibben; George Padberg; Maarten de Wit; Ellen Sterrenburg; Alexandre Mejat; Alexandra Breukel; Michal Rataj; Hanns Lochmüller; Raffaella Willmann
Journal:  Orphanet J Rare Dis       Date:  2019-06-07       Impact factor: 4.123

Review 5.  Genetic counseling and testing practices for late-onset neurodegenerative disease: a systematic review.

Authors:  Ashley Crook; Chris Jacobs; Toby Newton-John; Rosie O'Shea; Alison McEwen
Journal:  J Neurol       Date:  2021-03-01       Impact factor: 6.682

6.  Differential Diagnosis of Chorea-HIV Infection Delays Diagnosis of Huntington's Disease by Years.

Authors:  Jannis Achenbach; Simon Faissner; Carsten Saft
Journal:  Brain Sci       Date:  2021-05-27
  6 in total

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