M. Macdonald

发表

Detection of Huntington’s disease decades before diagnosis: the Predict-HD study

Jane S. Paulsen, M. Hayden, E. Aylward, 2007, Journal of Neurology, Neurosurgery, and Psychiatry.

The telomeric 60 kb of chromosome arm 4p is homologous to telomeric regions on 13p, 15p, 21p, and 22p.

M. MacDonald, H. Lehrach, J. Gusella, 1992, Genomics.

Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse.

Jacqueline K. White, A Auerbach, M. MacDonald, 1999, Human molecular genetics.

A somatic cell hybrid panel for localizing DNA segments near the Huntington's disease gene.

T. Gilliam, M. Hayden, T. Bonner, 1987, Genomics.

A DNA probe, D5 [D4S90] mapping to human chromosome 4p16.3.

S. Youngman, J. Wasmuth, D. Shaw, 1988, Nucleic acids research.

Assay by polymerase chain reaction (PCR) of multi-allele polymorphisms in the Huntington's disease region of chromosome 4.

J. Gusella, G. Barnes, M. Altherr, 1992, Molecular and cellular probes.

Analysis of the trinucleotide repeat expansion in Italian families affected with Huntington disease.

J. Gusella, F. Persichetti, A. Novelletto, 1994, Human molecular genetics.

Polymorphism analysis of the huntingtin gene in Italian families affected with Huntington disease.

M. MacDonald, J. Gusella, F. Persichetti, 1994, Human molecular genetics.

Distribution of trinucleotide repeat sequences across a 2 Mbp region containing the Huntington's disease gene.

R. Mott, H. Lehrach, J. Gusella, 1994, Human molecular genetics.

The isolation of cDNAs within the Huntington disease region by hybridisation of yeast artificial chromosomes to a cDNA library.

J. Gusella, G. Bates, J. Wasmuth, 1993, Human molecular genetics.

Targeted inactivation of the mouse Huntington's disease gene homolog Hdh.

A. Joyner, J. Gusella, J. Vonsattel, 1996, Cold Spring Harbor symposia on quantitative biology.

De novo expansion of a (CAG)n repeat in sporadic Huntington's disease

J. Gusella, W. Koroshetz, J. Vonsattel, 1993, Nature genetics.

A yeast artificial chromosome telomere clone spanning a possible location of the Huntington disease gene.

M. MacDonald, J. Gusella, S. Baxendale, 1990, American journal of human genetics.

Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1

M. MacDonald, J. Gusella, C. Morton, 2005, Journal of Medical Genetics.

Characterization of a yeast artificial chromosome contig spanning the Huntington's disease gene candidate region

A. Monaco, D. Bentley, D. Paslier, 1992, Nature Genetics.

Defined physical limits of the Huntington disease gene candidate region.

H. Lehrach, J. Gusella, S. Baxendale, 1991, American journal of human genetics.

Reduced penetrance of the Huntington's disease mutation.

M. MacDonald, J. Gusella, R. Myers, 1997, Human molecular genetics.

Huntington's disease.

J. Gusella, M. Macdonald, 1995, Seminars in cell biology.

Single sperm analysis of the trinucleotide repeats in the Huntington's disease gene: quantification of the mutation frequency spectrum.

S. Tavaré, R. Hubert, J. Gusella, 1995, Human molecular genetics.

Molecular genetics of Huntington's disease.

J. Gusella, C. Ambrose, M. Duyao, 1993, Archives of neurology.

Synteny conservation of the Huntington's disease gene and surrounding loci on mouse Chromosome 5

J. Gusella, C. Ambrose, M. Duyao, 1994, Mammalian Genome.

Hunting for Huntington's disease.

J. Gusella, M. Macdonald, 1993, Molecular genetic medicine.

Gametic but not somatic instability of CAG repeat length in Huntington's disease.

M. MacDonald, J. Penney, C. Ambrose, 1993, Journal of medical genetics.

Radiation hybrid map spanning the Huntington disease gene region of chromosome 4.

M. Boehnke, H. Lehrach, J. Gusella, 1992, Genomics.

A recombination event that redefines the Huntington disease region.

F. Collins, M. MacDonald, R. Snell, 1992, American journal of human genetics.

Analysis of germline mutation spectra at the Huntington's disease locus supports a mitotic mutation mechanism.

S. Tavaré, J. Gusella, N. Arnheim, 1999, Human molecular genetics.

Cloning of the α–adducin gene from the Huntington's disease candidate region of chromosome 4 by exon amplification

D. Church, D. Housman, R. Snell, 1992, Nature Genetics.

Factors associated with HD CAG repeat instability in Huntington disease

J. Mysore, M. MacDonald, J. Gusella, 2007, Journal of Medical Genetics.

Molecular genetics of Huntington's disease.

M. MacDonald, M. Duyao, M. Macdonald, 1993, Results and problems in cell differentiation.

An 86-bp VNTR within IDUA is the basis of the D4S111 polymorphic locus.

C. P. Morris, J. Gusella, H. Scott, 1992, Genomics.

Genome-wide scan for Parkinson's disease: the GenePD Study.

J. Growdon, J. Hubble, C. Singer, 2001, Neurology.

Trinucleotide instability: a repeating theme in human inherited disorders.

M. MacDonald, J. Gusella, M. Macdonald, 1996, Annual review of medicine.

A dinucleotide repeat polymorphism at the D4S127 locus.

J. Gusella, G. Barnes, M. Macdonald, 1992, Human molecular genetics.

Coexistence of Huntington’s disease and familial amyotrophic lateral sclerosis: case presentation

I. Shoulson, A. Rubio, D. Figlewicz, 1996, Acta Neuropathologica.

Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age

M. MacDonald, H. Shill, J. Growdon, 2006, Neurology.

Huntington's disease.

J. Gusella, J. Vonsattel, R. Myers, 1982, Cold Spring Harbor symposia on quantitative biology.

A new DNA marker (D4S90) is located terminally on the short arm of chromosome 4, close to the Huntington disease gene.

M Sarfarazi, M. Bucan, S. Youngman, 1989, Genomics.

Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease

M. MacDonald, M. Hayden, C. Ross, 2003, American journal of medical genetics. Part A.

1H NMR spectroscopy studies of Huntington's disease

B R Rosen, M. MacDonald, B. Rosen, 1998, Neurology.

Evidence for the GluR6 gene associated with younger onset age of Huntington’s disease

M. MacDonald, J. Gusella, L. Cupples, 1999, Neurology.

Genome-wide scan for Parkinson's disease

M. MacDonald, J. Growdon, J. Hubble, 2001, Neurology.