P. Poorkaj

发表

Tau is a candidate gene for chromosome 17 frontotemporal dementia

G. Schellenberg, E. Wijsman, T. Bird, 1998, Annals of neurology.

Candidate gene for the chromosome 1 familial Alzheimer's disease locus

G. Schellenberg, E. Wijsman, D. Galas, 1995, Science.

Single-step conversion of P1 and P1 artificial chromosome clones into yeast artificial chromosomes.

P. Poorkaj, G. Schellenberg, K. Peterson, 2000, Genomics.

Impact of DNA testing for early-onset familial Alzheimer disease and frontotemporal dementia.

T. Bird, P. Poorkaj, E. Steinbart, 2001, Archives of Neurology.

Genomic structure and expression of STM2, the chromosome 1 familial Alzheimer disease gene.

G. Schellenberg, Y. Fu, P. Poorkaj, 1996, Genomics.

A distinct familial presenile dementia with a novel missense mutation in the tau gene.

G. Schellenberg, J. Trojanowski, V. Lee, 1999, Neuroreport.

Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia.

G. Schellenberg, J. Trojanowski, D. Galasko, 2001, Archives of neurology.

Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly.

S. Scherer, H. Massa, P. Poorkaj, 1994, Human molecular genetics.

High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy.

G. Schellenberg, S. Melquist, D. Dickson, 2005, Human molecular genetics.

TAU as a susceptibility gene for amyotropic lateral sclerosis-parkinsonism dementia complex of Guam.

G. Schellenberg, E. Wijsman, D. Perl, 2001, Archives of neurology.

A comprehensive analysis of deletions, multiplications, and copy number variations in PARK2

G. Schellenberg, A. Samii, S. Factor, 2010, Neurology.

Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene

G. Schellenberg, H. Orr, T. Bird, 1998, Human mutation.

A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration.

G. Schellenberg, S. Tanimukai, P. Poorkaj, 1999, Neurology.

Correction: A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L) (Brain (1999) 122, 4 (741-756))

G. Schellenberg, J. Kaye, H. Payami, 1999 .

A novel mutation at position +12 in the intron following Exon 10 of the tau gene in familial frontotemporal dementia (FTD‐Kumamoto)

G. Schellenberg, G. Varani, T. Iwatsubo, 2000, Annals of neurology.

The genetics of Alzheimer's disease.

G. Schellenberg, E. Wijsman, T. Bird, 1989, Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie.

Amyloid beta protein (Abeta) deposition in chromosome 14-linked Alzheimer's disease: predominance of Abeta42(43).

S. M. Sumi, J. Hardy, P. Lantos, 1996, Annals of neurology.

The Clinical phenotype of two missense mutations in the presenilin I gene in Japanese patients

G. Schellenberg, R. Sherrington, T. Bird, 1996, Annals of neurology.

Tau and neurodegenerative disease: genetics and pathogenetic mechanisms

G. Schellenberg, T. Bird, P. Poorkaj, 2001 .

Tau Mutations: Genetics and Pathogenetic Mechanisms

G. Schellenberg, T. Bird, P. Poorkaj, 2000 .

The genetics of Alzheimer’s disease

G. Schellenberg, P. Poorkaj, I. D’Souza, 2000, Current psychiatry reports.

Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1.

S. Scherer, M. Patton, R. Pagon, 1994, American journal of human genetics.

Tau mutations altering splicing of tau exon 10 in japanese frontotemporal dementia

G. Schellenberg, M. Goedert, M. Hasegawa, 2001 .

Pro‐apoptotic effects of tau mutations in chromosome 17 frontotemporal dementia and parkinsonism

G. Schellenberg, Y. Itoyama, T. Bird, 2000, Neuroreport.

Familial prion disease with alzheimer disease‐like tau pathology and clinical phenotype

G. Schellenberg, T. Montine, B. Ghetti, 2011, Annals of neurology.

Alteration in calcium channel properties is responsible for the neurotoxic action of a familial frontotemporal dementia tau mutation

G. Schellenberg, M. Mattson, Y. Itoyama, 2003, Journal of neurochemistry.

Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development.

S. Scherer, L. Tsui, J. Rommens, 1996, Human molecular genetics.

Secreted amyloid β–protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease

G. Schellenberg, J. Hardy, M. Viitanen, 1996, Nature Medicine.

Heterozygous parkin point mutations are as common in control subjects as in Parkinson's patients

G. Schellenberg, J. Nutt, S. Factor, 2007, Annals of neurology.

Wide range in age of onset for chromosome 1‐related familial Alzheimer's disease

G. Schellenberg, T. Bird, A. Lahad, 1996, Annals of neurology.

Antibodies to presenilin proteins detect neurofibrillary tangles in Alzheimer's disease.

L. Forno, T. Bird, W. Ellis, 1996, The American journal of pathology.

Neuronal expression of STM2 mRNA in human brain is reduced in Alzheimer's disease.

D. Dorsa, P. Poorkaj, G. Schellenberg, 1996, The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society.

Amyloid β protein (Aβ) deposition in chromosome 14–linked Alzheimer's disease: Predominance of Aβ42(43)

S. M. Sumi, P. Lantos, M. Rossor, 1996 .

Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements.

G. Schellenberg, V. Lee, T. Bird, 1999, Proceedings of the National Academy of Sciences of the United States of America.

Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease.

J. Hardy, M. Viitanen, D. Selkoe, 1996, Nature medicine.

Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17.

D. Geschwind, G. Schellenberg, J. Trojanowski, 1998, Proceedings of the National Academy of Sciences of the United States of America.

A genomic sequence analysis of the mouse and human microtubule-associated protein tau

G. Schellenberg, M. Olson, A. Kas, 2001, Mammalian Genome.

A novel X‐linked four‐repeat tauopathy with Parkinsonism and spasticity

J. Nutt, A. Samii, T. Bird, 2010, Movement disorders : official journal of the Movement Disorder Society.

Familial frontotemporal dementia with ubiquitin-positive, tau-negative inclusions

T D Bird, P. S. St George-Hyslop, A. Kertesz, 2000, Neurology.

Organellar clusters formed by mitochondrial‐rough endoplasmic reticulum associations: An ordered arrangement of mitochondria in hepatocytes

P. Poorkaj, J. Cascarano, P. A. Chambers, 1995, Hepatology.

Tau isoform regulation is region‐ and cell‐specific in mouse brain

G. Schellenberg, P. Poorkaj, J. Leverenz, 2008, The Journal of comparative neurology.

A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L)

G. Schellenberg, J. Kaye, H. Payami, 1999, Brain : a journal of neurology.

An R5L τ mutation in a subject with a progressive supranuclear palsy phenotype

John Q Trojanowski, Gerard D Schellenberg, G. Schellenberg, 2002, Annals of neurology.

Chromosome 17 and hereditary dementia

S. M. Sumi, G. Schellenberg, E. Wijsman, 1997, Neurology.

Apolipoprotein E genotype does not affect the age of onset of dementia in families with defined tau mutations

J. Morris, J. Hardy, C. Duijn, 1999, Neuroscience Letters.

Organellar clusters formed by mitochondrial‐rough endoplasmic reticulum associations: An ordered arrangement of mitochondria in hepatocytes

P. Poorkaj, J. Cascarano, P. A. Chambers, 1995, Hepatology.

parkin mutation dosage and the phenomenon of anticipation: a molecular genetic study of familial parkinsonism

G. Schellenberg, J. Nutt, H. Payami, 2005, BMC neurology.

parkin mutation analysis in clinic patients with early‐onset Parkinson's disease

Thomas D. Bird, Gerard D. Schellenberg, John G. Nutt, 2004 .

parkin mutation analysis in clinic patients with early-onset Parkinson [corrected] disease.

G. Schellenberg, J. Nutt, H. Payami, 2004, American journal of medical genetics. Part A.

Familial prion disease with alzheimer disease‐like tau pathology and clinical phenotype

G. Schellenberg, T. Montine, B. Ghetti, 2011, Annals of neurology.

Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development.

J. Rommens, M. Crackower, P. Poorkaj, 1996, Human molecular genetics.

Parkin mutation analysis in clinic patients with early‐onset Parkinson's disease (Am J Med Genet 129A: 44–50, 2004)

J. Nutt, H. Payami, P. Poorkaj, 2005 .