Literature DB >> 8755937

Errors in Huntington disease diagnostic test caused by trinucleotide deletion in the IT15 gene.

C Gellera, C Meoni, B Castellotti, B Zappacosta, F Girotti, F Taroni, S DiDonato.   

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Year:  1996        PMID： 8755937      PMCID： PMC1914734     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  6 in total

1.  Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form.

Authors:  Y Trottier; D Devys; G Imbert; F Saudou; I An; Y Lutz; C Weber; Y Agid; E C Hirsch; J L Mandel
Journal:  Nat Genet       Date:  1995-05       Impact factor: 38.330

2.  The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease.

Authors:  S E Andrew; Y P Goldberg; B Kremer; H Telenius; J Theilmann; S Adam; E Starr; F Squitieri; B Lin; M A Kalchman
Journal:  Nat Genet       Date:  1993-08       Impact factor: 38.330

3.  Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease.

Authors:  R G Snell; J C MacMillan; J P Cheadle; I Fenton; L P Lazarou; P Davies; M E MacDonald; J F Gusella; P S Harper; D J Shaw
Journal:  Nat Genet       Date:  1993-08       Impact factor: 38.330

4.  Trinucleotide repeat length instability and age of onset in Huntington's disease.

Authors:  M Duyao; C Ambrose; R Myers; A Novelletto; F Persichetti; M Frontali; S Folstein; C Ross; M Franz; M Abbott
Journal:  Nat Genet       Date:  1993-08       Impact factor: 38.330

5.  A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing.

Authors:  S E Andrew; Y P Goldberg; J Theilmann; J Zeisler; M R Hayden
Journal:  Hum Mol Genet       Date:  1994-01       Impact factor: 6.150

6.  Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population.

Authors:  Y P Goldberg; C T McMurray; J Zeisler; E Almqvist; D Sillence; F Richards; A M Gacy; J Buchanan; H Telenius; M R Hayden
Journal:  Hum Mol Genet       Date:  1995-10       Impact factor: 6.150
  6 in total
  15 in total

1.  Benign hereditary chorea of early onset maps to chromosome 14q.

Authors:  B B de Vries; W F Arts; G J Breedveld; J J Hoogeboom; M F Niermeijer; P Heutink
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

Review 2.  Molecular medicine: predicting and preventing Huntington's disease.

Authors:  Ferdinando Squitieri; Milena Cannella; Luigi Frati
Journal:  Neurol Sci       Date:  2008-09-20       Impact factor: 3.307

3.  Avoiding errors in the diagnosis of (CAG)n expansion in the huntingtin gene.

Authors:  C Holzmann; A M Saecker; J T Epplen; O Riess
Journal:  J Med Genet       Date:  1997-03       Impact factor: 6.318

4.  CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup.

Authors:  Simon C Warby; Alexandre Montpetit; Anna R Hayden; Jeffrey B Carroll; Stefanie L Butland; Henk Visscher; Jennifer A Collins; Alicia Semaka; Thomas J Hudson; Michael R Hayden
Journal:  Am J Hum Genet       Date:  2009-02-26       Impact factor: 11.025

5.  Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients.

Authors:  Caterina Mariotti; Dario Alpini; Roberto Fancellu; Paola Soliveri; Marina Grisoli; Sabrina Ravaglia; Carlo Lovati; Vincenza Fetoni; Giorgio Giaccone; Alessia Castucci; Franco Taroni; Cinzia Gellera; Stefano Di Donato
Journal:  J Neurol       Date:  2007-10-15       Impact factor: 4.849

Review 6.  Huntington's Disease Pathogenesis: Two Sequential Components.

Authors:  Eun Pyo Hong; Marcy E MacDonald; Vanessa C Wheeler; Lesley Jones; Peter Holmans; Michael Orth; Darren G Monckton; Jeffrey D Long; Seung Kwak; James F Gusella; Jong-Min Lee
Journal:  J Huntingtons Dis       Date:  2021

7.  EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease.

Authors:  Monique Losekoot; Martine J van Belzen; Sara Seneca; Peter Bauer; Susan A R Stenhouse; David E Barton
Journal:  Eur J Hum Genet       Date:  2012-09-19       Impact factor: 4.246

8.  Genetic modifiers of Huntington disease differentially influence motor and cognitive domains.

Authors:  Jong-Min Lee; Yuan Huang; Michael Orth; Tammy Gillis; Jacqueline Siciliano; Eunpyo Hong; Jayalakshmi Srinidhi Mysore; Diane Lucente; Vanessa C Wheeler; Ihn Sik Seong; Zachariah L McLean; James A Mills; Branduff McAllister; Sergey V Lobanov; Thomas H Massey; Marc Ciosi; G Bernhard Landwehrmeyer; Jane S Paulsen; E Ray Dorsey; Ira Shoulson; Cristina Sampaio; Darren G Monckton; Seung Kwak; Peter Holmans; Lesley Jones; Marcy E MacDonald; Jeffrey D Long; James F Gusella
Journal:  Am J Hum Genet       Date:  2022-03-23       Impact factor: 11.043

Review 9.  Huntington's disease: nearly four decades of human molecular genetics.

Authors:  James F Gusella; Jong-Min Lee; Marcy E MacDonald
Journal:  Hum Mol Genet       Date:  2021-10-01       Impact factor: 5.121

10.  The gene coding for PGC-1alpha modifies age at onset in Huntington's Disease.

Authors:  Patrick Weydt; Selma M Soyal; Cinzia Gellera; Stefano Didonato; Claus Weidinger; Hannes Oberkofler; G Bernhard Landwehrmeyer; Wolfgang Patsch
Journal:  Mol Neurodegener       Date:  2009-01-08       Impact factor: 14.195
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