Literature DB >> 22619054

Genetic testing in neurological diseases.

Saskia Biskup1, Thomas Gasser.   

Abstract

The advances in sequencing technologies and the availability of molecular testing for a rapidly increasing number of diseases are both promising and challenging. Here, we will focus on practical aspects and the usefulness of molecular diagnosis in a clinical setting. Even in the absence of therapeutic consequences, genetic testing can and should be considered for a number of reasons, including a right to know for the patient and the family, and the avoidance of further diagnostic work-up. As it will soon become possible to routinely sequence hundreds or even thousands of genes in parallel, molecular diagnosis will become increasingly important as it provides valuable information for the physician and for the affected individuals.

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Year:  2012        PMID: 22619054     DOI: 10.1007/s00415-012-6511-9

Source DB:  PubMed          Journal:  J Neurol        ISSN: 0340-5354            Impact factor:   4.849


  12 in total

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2.  alpha-Synuclein locus triplication causes Parkinson's disease.

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Journal:  Science       Date:  2003-10-31       Impact factor: 47.728

3.  Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification.

Authors:  Ana Djarmati; Miodrag Guzvić; Anne Grünewald; Anthony E Lang; Peter P Pramstaller; David K Simon; Angela M Kaindl; Peter Vieregge; Anders O H Nygren; Christian Beetz; Katja Hedrich; Christine Klein
Journal:  Mov Disord       Date:  2007-09-15       Impact factor: 10.338

4.  EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.

Authors:  T Gasser; J Finsterer; J Baets; C Van Broeckhoven; S Di Donato; B Fontaine; P De Jonghe; A Lossos; T Lynch; C Mariotti; L Schöls; A Spinazzola; Z Szolnoki; S J Tabrizi; C M E Tallaksen; M Zeviani; J-M Burgunder; H F Harbo
Journal:  Eur J Neurol       Date:  2009-12-28       Impact factor: 6.089

Review 5.  Sequencing technologies - the next generation.

Authors:  Michael L Metzker
Journal:  Nat Rev Genet       Date:  2009-12-08       Impact factor: 53.242

6.  A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.

Authors: 
Journal:  Cell       Date:  1993-03-26       Impact factor: 41.582

7.  Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

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Journal:  Cell       Date:  1992-04-17       Impact factor: 41.582

8.  Clinical and genetic abnormalities in patients with Friedreich's ataxia.

Authors:  A Dürr; M Cossee; Y Agid; V Campuzano; C Mignard; C Penet; J L Mandel; A Brice; M Koenig
Journal:  N Engl J Med       Date:  1996-10-17       Impact factor: 91.245

9.  The Wilson disease gene: spectrum of mutations and their consequences.

Authors:  G R Thomas; J R Forbes; E A Roberts; J M Walshe; D W Cox
Journal:  Nat Genet       Date:  1995-02       Impact factor: 38.330

10.  A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.

Authors:  Alan E Renton; Elisa Majounie; Adrian Waite; Javier Simón-Sánchez; Sara Rollinson; J Raphael Gibbs; Jennifer C Schymick; Hannu Laaksovirta; John C van Swieten; Liisa Myllykangas; Hannu Kalimo; Anders Paetau; Yevgeniya Abramzon; Anne M Remes; Alice Kaganovich; Sonja W Scholz; Jamie Duckworth; Jinhui Ding; Daniel W Harmer; Dena G Hernandez; Janel O Johnson; Kin Mok; Mina Ryten; Danyah Trabzuni; Rita J Guerreiro; Richard W Orrell; James Neal; Alex Murray; Justin Pearson; Iris E Jansen; David Sondervan; Harro Seelaar; Derek Blake; Kate Young; Nicola Halliwell; Janis Bennion Callister; Greg Toulson; Anna Richardson; Alex Gerhard; Julie Snowden; David Mann; David Neary; Michael A Nalls; Terhi Peuralinna; Lilja Jansson; Veli-Matti Isoviita; Anna-Lotta Kaivorinne; Maarit Hölttä-Vuori; Elina Ikonen; Raimo Sulkava; Michael Benatar; Joanne Wuu; Adriano Chiò; Gabriella Restagno; Giuseppe Borghero; Mario Sabatelli; David Heckerman; Ekaterina Rogaeva; Lorne Zinman; Jeffrey D Rothstein; Michael Sendtner; Carsten Drepper; Evan E Eichler; Can Alkan; Ziedulla Abdullaev; Svetlana D Pack; Amalia Dutra; Evgenia Pak; John Hardy; Andrew Singleton; Nigel M Williams; Peter Heutink; Stuart Pickering-Brown; Huw R Morris; Pentti J Tienari; Bryan J Traynor
Journal:  Neuron       Date:  2011-09-21       Impact factor: 17.173

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  3 in total

1.  Cancer genomics and inherited risk.

Authors:  Zsofia K Stadler; Kasmintan A Schrader; Joseph Vijai; Mark E Robson; Kenneth Offit
Journal:  J Clin Oncol       Date:  2014-01-21       Impact factor: 44.544

2.  Investigating the role of genetic counseling in neuromuscular disease considering life events.

Authors:  Yuka Shibata; Ichiro Yabe; Masaaki Matsushima; Naoki Hashimoto; Takahiro Yamada; Hidenao Sasaki
Journal:  J Hum Genet       Date:  2019-03-13       Impact factor: 3.172

3.  Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients.

Authors:  Aparna Ganapathy; Avshesh Mishra; Megha Rani Soni; Priyanka Kumar; Mukunth Sadagopan; Anil Vittal Kanthi; Irene Rosetta Pia Patric; Sobha George; Aparajit Sridharan; T C Thyagarajan; S L Aswathy; H K Vidya; Swathi M Chinnappa; Swetha Nayanala; Manasa B Prakash; Vijayashree G Raghavendrachar; Minothi Parulekar; Vykuntaraju K Gowda; Sheela Nampoothiri; Ramshekhar N Menon; Divya Pachat; Vrajesh Udani; Neeta Naik; Mahesh Kamate; A Radha Rama Devi; P A Mohammed Kunju; Mohandas Nair; Anaita Udwadia Hegde; M Pradeep Kumar; Soumya Sundaram; Preetha Tilak; Ratna D Puri; Krati Shah; Jayesh Sheth; Qurratulain Hasan; Frenny Sheth; Pooja Agrawal; Shanmukh Katragadda; Vamsi Veeramachaneni; Vijay Chandru; Ramesh Hariharan; Ashraf U Mannan
Journal:  J Neurol       Date:  2019-05-08       Impact factor: 4.849

  3 in total

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