Literature DB >> 8353483

Improved PCR conditions for the stretch of (CAG)n repeats causing Huntington's disease.

O Riess1, A Noerremoelle, S A Soerensen, J T Epplen.   

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Year:  1993        PMID： 8353483     DOI： 10.1093/hmg/2.6.637

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  24 in total

1.  Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats.

Authors:  D C Rubinsztein; J Leggo; R Coles; E Almqvist; V Biancalana; J J Cassiman; K Chotai; M Connarty; D Crauford; A Curtis; D Curtis; M J Davidson; A M Differ; C Dode; A Dodge; M Frontali; N G Ranen; O C Stine; M Sherr; M H Abbott; M L Franz; C A Graham; P S Harper; J C Hedreen; M R Hayden
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

2.  Discrepancies in reporting the CAG repeat lengths for Huntington's disease.

Authors:  Oliver W Quarrell; Olivia Handley; Kirsty O'Donovan; Christine Dumoulin; Maria Ramos-Arroyo; Ida Biunno; Peter Bauer; Margaret Kline; G Bernhard Landwehrmeyer
Journal:  Eur J Hum Genet       Date:  2011-08-03       Impact factor: 4.246

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.  Decreased N-acetyl-aspartate/choline ratio and increased lactate in the frontal lobe of patients with Huntington's disease: a proton magnetic resonance spectroscopy study.

Authors:  L Harms; H Meierkord; G Timm; L Pfeiffer; A C Ludolph
Journal:  J Neurol Neurosurg Psychiatry       Date:  1997-01       Impact factor: 10.154

5.  A unified rapid PCR method for detection of normal and expanded trinucleotide alleles of CAG repeats in huntington chorea and CGG repeats in fragile X syndrome.

Authors:  Tihomir Todorov; Albena Todorova; Bilyana Georgieva; Vanyo Mitev
Journal:  Mol Biotechnol       Date:  2010-06       Impact factor: 2.695

6.  Confidence intervals for predicted age of onset, given the size of (CAG)n repeat, in Huntington's disease.

Authors:  G Lucotte; J C Turpin; O Riess; J T Epplen; I Siedlaczk; F Loirat; S Hazout
Journal:  Hum Genet       Date:  1995-02       Impact factor: 4.132

7.  Early Detection of Apathetic Phenotypes in Huntington's Disease Knock-in Mice Using Open Source Tools.

Authors:  Shawn Minnig; Robert M Bragg; Hardeep S Tiwana; Wes T Solem; William S Hovander; Eva-Mari S Vik; Madeline Hamilton; Samuel R W Legg; Dominic D Shuttleworth; Sydney R Coffey; Jeffrey P Cantle; Jeffrey B Carroll
Journal:  Sci Rep       Date:  2018-02-02       Impact factor: 4.379

8.  Early onset Huntington disease: a neuronal degeneration syndrome.

Authors:  Sara Seneca; Domique Fagnart; Kathelijn Keymolen; Willy Lissens; Daniele Hasaerts; Sara Debulpaep; Brigitte Desprechins; Inge Liebaers; Linda De Meirleir
Journal:  Eur J Pediatr       Date:  2004-12       Impact factor: 3.183

9.  Huntington disease without CAG expansion: phenocopies or errors in assignment?

Authors:  S E Andrew; Y P Goldberg; B Kremer; F Squitieri; J Theilmann; J Zeisler; H Telenius; S Adam; E Almquist; M Anvret
Journal:  Am J Hum Genet       Date:  1994-05       Impact factor: 11.025

Review 10.  Neurogenetic diseases: molecular diagnosis and therapeutic approaches.

Authors:  U Muller; M B Graeber
Journal:  J Mol Med (Berl)       Date:  1996-02       Impact factor: 4.599
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