4.7 Article

Defining Neurodegeneration on Guam by Targeted Genomic Sequencing

Related references

Note: Only part of the references are listed.
Article Biochemistry & Molecular Biology

DNAJC13 mutations in Parkinson disease

Carles Vilarino-Gueell et al.

HUMAN MOLECULAR GENETICS (2014)

Article Clinical Neurology

A Novel DCTN1 Mutation With Late-Onset Parkinsonism and Frontotemporal Atrophy

Eiichi Araki et al.

MOVEMENT DISORDERS (2014)

Article Biochemistry & Molecular Biology

The UCSC Genome Browser database: 2014 update

Donna Karolchik et al.

NUCLEIC ACIDS RESEARCH (2014)

Article Genetics & Heredity

Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor

Nancy D. Merner et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Article

The Spectrum of Mutations in Progranulin

Chang-En Yu et al.

ARCHIVES OF NEUROLOGY (2010)

Article Clinical Neurology

PINK1-linked parkinsonism is associated with Lewy body pathology

Lluis Samaranch et al.

BRAIN (2010)

Article Biochemistry & Molecular Biology

Detection of nonneutral substitution rates on mammalian phylogenies

Katherine S. Pollard et al.

GENOME RESEARCH (2010)

Letter Biochemical Research Methods

A method and server for predicting damaging missense mutations

Ivan A. Adzhubei et al.

NATURE METHODS (2010)

Letter Biochemical Research Methods

MutationTaster evaluates disease-causing potential of sequence alterations

Jana Marie Schwarz et al.

NATURE METHODS (2010)

Article Biochemistry & Molecular Biology

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

Kai Wang et al.

NUCLEIC ACIDS RESEARCH (2010)

Article Genetics & Heredity

DCTN1 mutations in Perry syndrome

Matthew J. Farrer et al.

NATURE GENETICS (2009)

Article Biochemical Research Methods

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

Prateek Kumar et al.

NATURE PROTOCOLS (2009)

Review Clinical Neurology

The ALS/PDC syndrome of Guam and the cycad hypothesis

John C. Steele et al.

NEUROLOGY (2008)

Article Clinical Neurology

Pathological TDP-43 in parkinsonism-dementia complex and amyotrophic lateral sclerosis of Guam

Felix Geser et al.

ACTA NEUROPATHOLOGICA (2008)

Review Clinical Neurology

Deciphering the role of heterozygous mutations in genes associated with parkinsonism

Christine Klein et al.

LANCET NEUROLOGY (2007)

Article Clinical Neurology

Cycad exposure and risk of dementia, MCI, and PDC in the Chamorro population of Guam

A. R. Borenstein et al.

NEUROLOGY (2007)

Article Biochemistry & Molecular Biology

Two sites in the MAPT region confer genetic risk for Guam ALS/PDC and dementia

Purnima Desai Sundar et al.

HUMAN MOLECULAR GENETICS (2007)

Article Clinical Neurology

Parkinsonism-dementia complex of Guam

JC Steele

MOVEMENT DISORDERS (2005)

Article Genetics & Heredity

Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

G Skibinski et al.

NATURE GENETICS (2005)

Article Clinical Neurology

Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease

E Rogaeva et al.

ARCHIVES OF NEUROLOGY (2004)

Article Genetics & Heredity

Mutant dynactin in motor neuron disease

I Puls et al.

NATURE GENETICS (2003)

Article Clinical Neurology

Chromosome 3 linked frontotemporal dementia (FTD-3)

S Gydesen et al.

NEUROLOGY (2002)

Article Clinical Neurology

ALS and PDC of Guam - Forty-year follow-up

CC Plato et al.

NEUROLOGY (2002)

Article Clinical Neurology

A clinical and pathological study of motor neurone disease on Guam

HR Morris et al.

BRAIN (2001)

Article Clinical Neurology

El Escorial revisited: Revised criteria for the diagnosis of amyotrophic lateral sclerosis

BR Brooks et al.

AMYOTROPHIC LATERAL SCLEROSIS AND OTHER MOTOR NEURON DISORDERS (2000)

Review Ophthalmology

Macular microcirculation characteristics in Parkinson's disease evaluated by OCT-Angiography: a literature review

Evita Evangelia Christou et al.

Summary: The retina may serve as a predictive factor for neurodegenerative disorders, with recent use of Optical Coherence Tomography Angiography (OCT-A) in studying macular microcirculation changes in Parkinson's disease (PD). While preliminary evidence suggests OCT-A could be a useful biomarker for cerebral vasculature in PD, further research is needed to confirm its predictive value in clinical practice.

SEMINARS IN OPHTHALMOLOGY