B. Ross

发表

Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.

T. Gilliam, G. Penchaszadeh, O. Evgrafov, 1997, American journal of human genetics.

Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features

W. Hauser, T. Gilliam, T. Pedley, 2002, Nature Genetics.

Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions.

T. Gilliam, J. Kaplan, K. Petrukhin, 1994, Human molecular genetics.

Olfaction in Parkin heterozygotes and compound heterozygotes

K. Marder, M. Rezak, L. Cote, 2010, Neurology.

Mutations in the Parkinson's disease genes, Leucine Rich Repeat Kinase 2 (LRRK2) and Glucocerebrosidase (GBA), are not associated with essential tremor.

N. Park, Joseph H. Lee, E. Louis, 2010, Parkinsonism & related disorders.

Refinement of the spinal muscular atrophy locus by genetic and physical mapping.

G. Penchaszadeh, T. Carter, E. Vitale, 1995, American journal of human genetics.

Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophy.

T. Gilliam, G. Penchaszadeh, T. Carter, 1996, Human molecular genetics.

A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions.

L. Kunkel, T. Gilliam, M. Soares, 1997, Human molecular genetics.

Construction of a yeast artificial chromosome contig spanning the spinal muscular atrophy disease gene region.

A. Grunn, E. Vitale, D. Warburton, 1993, Proceedings of the National Academy of Sciences of the United States of America.

Extensive DNA deletion associated with severe disease alleles on spinal muscular atrophy homologues

T. Gilliam, G. Penchaszadeh, T. Carter, 1997, Annals of neurology.

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8

A. Chapelle, T. Gilliam, M. Soares, 1999, Nature Genetics.

Frequency of known mutations in early-onset Parkinson disease: implication for genetic counseling: the consortium on risk for early onset Parkinson disease study.

K. Marder, M. Rezak, L. Cote, 2010, Archives of neurology.

Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular transformation.

T. Gilliam, S. Zeitlin, C. Mekios, 1999, Human molecular genetics.

Characterization of the Interaction between the Wilson and Menkes Disease Proteins and the Cytoplasmic Copper Chaperone, HAH1p*

T. Gilliam, A. Yang, K. Das, 1999, The Journal of Biological Chemistry.

Positional cloning and characterisation of the human DLGAP2 gene and its exclusion in progressive epilepsy with mental retardation

A. Chapelle, T. Gilliam, A. Lehesjoki, 2000, European Journal of Human Genetics.

Population-based study of SR-BI genetic variation and lipid profile.

T. Gilliam, A. Yang, M. Costanza, 2004, Atherosclerosis.

Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease

K. Marder, L. Cote, S. Fahn, 2007, Neurology.

The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

J. Peppercorn, L. Pavone, B. Honig, 1993, Nature Genetics.

TULP1 mutation in two extended Dominican kindreds with autosomal recessive Retinitis pigmentosa

J. Ott, S. Jacobson, T. Gilliam, 1998, Nature Genetics.

Predictors of parkin mutations in early-onset Parkinson disease: the consortium on risk for early-onset Parkinson disease study.

K. Marder, M. Rezak, L. Cote, 2010, Archives of neurology.

Polyamine pathway contributes to the pathogenesis of Parkinson disease

G. Petsko, D. Ringe, K. Marder, 2010, Proceedings of the National Academy of Sciences.

Homozygosity and physical mapping of the autosomal recessive retinitis pigmentosa locus (RP14) on chromosome 6p21.3.

J. Ott, S. Jacobson, T. Gilliam, 1998, Genomics.

High-resolution mapping and transcript identification at the progressive epilepsy with mental retardation locus on chromosome 8p.

T. Gilliam, P. D. de Jong, M. Soares, 1997, Genome research.

Motor phenotype of LRRK2 G2019S carriers in early-onset Parkinson disease.

K. Marder, M. Rezak, L. Cote, 2009, Archives of neurology.

Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors.

T. Gilliam, M. Costanza, A. Morabia, 2003, Human molecular genetics.

Neuropsychological Profile of Parkin Mutation Carriers with and without Parkinson Disease: The CORE-PD Study

K. Marder, M. Rezak, L. Cote, 2010, Journal of the International Neuropsychological Society.

Self-report of cognitive impairment and mini-mental state examination performance in PRKN, LRRK2, and GBA carriers with early onset Parkinson's disease

K. Marder, M. Rezak, L. Cote, 2010, Journal of clinical and experimental neuropsychology.

Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p.

J. Weissenbach, S. Leal, T. Gilliam, 1996, Genome research.

Association of glucocerebrosidase mutations with dementia with lewy bodies.

K. Marder, R. Mayeux, L. Cote, 2009, Archives of neurology.

Relative contributions of genes, environment, and interactions to blood lipid concentrations in a general adult population.

M. Costanza, A. Morabia, Maria Sol Flaherty, 2005, American journal of epidemiology.

The relation between depression and parkin genotype: the CORE-PD study.

K. Marder, M. Rezak, L. Cote, 2011, Parkinsonism & related disorders.

Cognitive performance of GBA mutation carriers with early-onset PD

K. Marder, M. Rezak, L. Cote, 2012, Neurology.

Motor phenotype of LRRK2 G2019S carriers in early-onset Parkinson disease.

K. Marder, M. Rezak, L. Cote, 2009, Archives of neurology.

Frequency of known mutations in early-onset Parkinson disease: implication for genetic counseling: the consortium on risk for early onset Parkinson disease study.

K. Marder, M. Rezak, L. Cote, 2010, Archives of neurology.