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LRRK2 gene in Parkinson disease: mutation analysis and case control association study

Neurology, 2005-09, Vol.65 (5), p.696-700

2005

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The Genetics of Adult-Onset Neuropsychiatric Disease: Complexities and Conundra?

Science (American Association for the Advancement of Science), 2003-10, Vol.302 (5646), p.822-826

2003

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SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

Brain (London, England : 1878), 2010-02, Vol.133 (2), p.591-598

2010

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Lewy Bodies Contain Altered α-Synuclein in Brains of Many Familial Alzheimer's Disease Patients with Mutations in Presenilin and Amyloid Precursor Protein Genes

The American journal of pathology, 1998-11, Vol.153 (5), p.1365-1370

1998

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Presenilin-dependent gamma-secretase-mediated control of p53-associated cell death in Alzheimer's disease

The Journal of neuroscience, 2006-06, Vol.26 (23), p.6377-6385

2006

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Bothrops snakebite on the head: case report and review of the literature

Annals of tropical medicine and parasitology, 2007-12, Vol.101 (8), p.733-743

2007

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

Neurology, 2000-02, Vol.54 (4), p.818-827

2000

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Localisation of presenilin 2 in human and rodent pancreatic islet beta-cells; Met239Val presenilin 2 variant is not associated with diabetes in man

Journal of cell science, 1999-07, Vol.112 ( Pt 13) (13), p.2137-2144

1999

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A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts

Neurology, 2004-05, Vol.62 (10), p.1875-1878

2004

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Familial Alzheimer's disease: Site of mutation influences clinical phenotype

Annals of neurology, 2000-09, Vol.48 (3), p.376-379

2000

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Evidence for an Alzheimer disease susceptibility locus on chromosome 12 and for further locus heterogeneity

JAMA : the journal of the American Medical Association, 1998-08, Vol.280 (7), p.614

1998

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Some Thoughts on Pelvic Pain

Australian & New Zealand journal of obstetrics & gynaecology, 1972-02, Vol.12 (1), p.40-42

Hyslop, R. S.

1972

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Two novel (M233T and ρ278T) presenilin-1 mutations in early-onset Alzheimerʼs disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype

Neuroreport, 1997-04, Vol.8 (6), p.1537-1542

1997

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Clinical and genetic study of a large Italian family linked to SPG12 locus

Neurology, 2002-11, Vol.59 (9), p.1395-1401

2002

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A spectrum of mutations in the polycystic kidney disease-2 (PKD2) gene from eight Canadian kindreds

Journal of the American Society of Nephrology, 1998-10, Vol.9 (10), p.1853-1860

1998

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Association between presenilin-1 Glu318Gly mutation and familial Alzheimer's disease in the Australian population

Molecular psychiatry, 2002-08, Vol.7 (7), p.776-781

2002

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Age-Related Changes in D2 Receptor Binding with Iodine-123-Iodobenzofuran SPECT

The Journal of nuclear medicine (1978), 1998-09, Vol.39 (9), p.1511-1518

1998

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A clinico-epidemiological study of bites by spiders of the genus Phoneutria

Revista do Instituto de Medicina Tropical de São Paulo, 2000-02, Vol.42 (1), p.17-21

2000

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

Annals of neurology, 1996-12, Vol.40 (6), p.912-917

1996

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Gerstmann-Sträussler-Scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients

Neurology, 1995-06, Vol.45 (6), p.1127

1995

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Distinguishable effects of Presenilin-1 and APP717 mutations on amyloid plaque deposition

Neurobiology of aging, 2001-05, Vol.22 (3), p.367-376

2001

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Absence of linkage between familial amyotrophic lateral sclerosis and copper chaperone for the superoxide dismutase gene locus in two Italian pedigrees

Neuroscience letters, 2000-05, Vol.285 (2), p.83-86

2000

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Wilson's disease: a common liver disorder?

Canadian Medical Association journal, 1977-07, Vol.117 (1), p.45-48

1977

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Variable clinical symptoms in familial amyotrophic lateral sclerosis with a novel point mutation in the Cu/Zn superoxide dismutase gene

Neurology, 1995-11, Vol.45 (11), p.2038-2042

1995

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Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the beta-amyloid precursor protein gene

Neurology, 1992-08, Vol.42 (8), p.1445-1445

1992

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LRRK2 gene in Parkinson disease: mutation analysis and case control association study

The Genetics of Adult-Onset Neuropsychiatric Disease: Complexities and Conundra?

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

Lewy Bodies Contain Altered α-Synuclein in Brains of Many Familial Alzheimer's Disease Patients with Mutations in Presenilin and Amyloid Precursor Protein Genes

Presenilin-dependent gamma-secretase-mediated control of p53-associated cell death in Alzheimer's disease

Bothrops snakebite on the head: case report and review of the literature

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

Localisation of presenilin 2 in human and rodent pancreatic islet beta-cells; Met239Val presenilin 2 variant is not associated with diabetes in man

A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts

Familial Alzheimer's disease: Site of mutation influences clinical phenotype

Evidence for an Alzheimer disease susceptibility locus on chromosome 12 and for further locus heterogeneity

Some Thoughts on Pelvic Pain

Two novel (M233T and ρ278T) presenilin-1 mutations in early-onset Alzheimerʼs disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype

Clinical and genetic study of a large Italian family linked to SPG12 locus

A spectrum of mutations in the polycystic kidney disease-2 (PKD2) gene from eight Canadian kindreds

Association between presenilin-1 Glu318Gly mutation and familial Alzheimer's disease in the Australian population

Age-Related Changes in D2 Receptor Binding with Iodine-123-Iodobenzofuran SPECT

A clinico-epidemiological study of bites by spiders of the genus Phoneutria

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

Gerstmann-Sträussler-Scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients

Distinguishable effects of Presenilin-1 and APP717 mutations on amyloid plaque deposition

Absence of linkage between familial amyotrophic lateral sclerosis and copper chaperone for the superoxide dismutase gene locus in two Italian pedigrees

Wilson's disease: a common liver disorder?

Variable clinical symptoms in familial amyotrophic lateral sclerosis with a novel point mutation in the Cu/Zn superoxide dismutase gene

Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the beta-amyloid precursor protein gene

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