Literature DB >> 2525874

The paradigm of Huntington disease.

J B Jenkins1, P M Conneally.   

Abstract

I recall it as vividly as though it had occurred but yesterday. It made a most enduring impression upon my boyish mind which was my very first impulse to choosing chorea as my virgin contribution to medical lore. Driving with my father through a wooded road leading from East Hampton to Amagansett we suddenly came upon two women, mother and daughter, both tall and thin, almost cadaverous, both bowing, twisting, grimacing. I stared in wonderment, almost in fear. What could it mean? My father paused to speak with them and we passed on. Then my Gamaliel-like instruction began; my medical education had its inception. From this point on, my interest in the disease has never wholly ceased. [George Huntington, at 59, recalling how at the age of 8 years he first saw Huntington disease while traveling with his physician father on his professional rounds in 1858].

Entities:  

Mesh:

Year:  1989        PMID: 2525874      PMCID: PMC1683365     

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


  16 in total

Review 1.  DNA polymorphism and human disease.

Authors:  J F Gusella
Journal:  Annu Rev Biochem       Date:  1986       Impact factor: 23.643

2.  Testing for the Huntington gene: a right to know, a right not to know, or a duty to know.

Authors:  M W Shaw
Journal:  Am J Med Genet       Date:  1987-02

Review 3.  The morbid anatomy of the human genome: a review of gene mapping in clinical medicine (2).

Authors:  V A McKusick
Journal:  Medicine (Baltimore)       Date:  1987-01       Impact factor: 1.889

4.  DNA markers for nervous system diseases.

Authors:  J F Gusella; R E Tanzi; M A Anderson; W Hobbs; K Gibbons; R Raschtchian; T C Gilliam; M R Wallace; N S Wexler; P M Conneally
Journal:  Science       Date:  1984-09-21       Impact factor: 47.728

5.  A polymorphic DNA marker genetically linked to Huntington's disease.

Authors:  J F Gusella; N S Wexler; P M Conneally; S L Naylor; M A Anderson; R E Tanzi; P C Watkins; K Ottina; M R Wallace; A Y Sakaguchi
Journal:  Nature       Date:  1983 Nov 17-23       Impact factor: 49.962

6.  Presymptomatic testing for Huntington's disease. A case complicated by recombination within the D4S10 locus.

Authors:  A Curtis; F Millan; S Holloway; M Mennie; A Crosbie; J A Raeburn; D J Brock
Journal:  Hum Genet       Date:  1989-01       Impact factor: 4.132

Review 7.  Construction of a genetic linkage map in man using restriction fragment length polymorphisms.

Authors:  D Botstein; R L White; M Skolnick; R W Davis
Journal:  Am J Hum Genet       Date:  1980-05       Impact factor: 11.025

8.  Huntington's disease: two families with differing clinical features show linkage to the G8 probe.

Authors:  S E Folstein; J A Phillips; D A Meyers; G A Chase; M H Abbott; M L Franz; P G Waber; H H Kazazian; P M Conneally; W Hobbs
Journal:  Science       Date:  1985-08-23       Impact factor: 47.728

9.  Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome.

Authors:  J F Gusella; R E Tanzi; P I Bader; M C Phelan; R Stevenson; M R Hayden; K J Hofman; A G Faryniarz; K Gibbons
Journal:  Nature       Date:  1985 Nov 7-13       Impact factor: 49.962

10.  Huntington disease-linked restriction fragment length polymorphism localized within band p16.1 of chromosome 4 by in situ hybridization.

Authors:  R E Magenis; J Gusella; K Weliky; S Olson; G Haight; S Toth-Fejel; R Sheehy
Journal:  Am J Hum Genet       Date:  1986-09       Impact factor: 11.025

View more
  2 in total

1.  Scientific and ethical consequences of disease prediction.

Authors:  M Siegler; S Amiel; J Lantos
Journal:  Diabetologia       Date:  1992-12       Impact factor: 10.122

2.  Synthesis and Evaluation of a Fluorine-18 Radioligand for Imaging Huntingtin Aggregates by Positron Emission Tomographic Imaging.

Authors:  Tanpreet Kaur; Allen F Brooks; Alex Lapsys; Timothy J Desmond; Jenelle Stauff; Janna Arteaga; Wade P Winton; Peter J H Scott
Journal:  Front Neurosci       Date:  2021-12-02       Impact factor: 4.677

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.