Search filters

List of works by Katrina Gwinn

73-Year-Old Man With Gait Disturbance and Imbalance

scientific article published on 01 February 1997

80-Year-old woman with dementia and parkinsonism

scientific article published in December 1997

A MAPT mutation in a regulatory element upstream of exon 10 causes frontotemporal dementia

scientific article published on 28 February 2006

A clinical and pathological study of motor neurone disease on Guam

scientific article

A consanguineous Turkish family with early-onset Parkinson's disease and an exon 4 parkin deletion

scientific article

A family with a tau P301L mutation presenting with parkinsonism

article

A golden opportunity

scientific article published on 01 November 1993

A pilot study on the motor effects of rimantadine in Parkinson's disease

scientific article published on 01 January 1999

A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1.

scientific article published in April 1998

Accurate determination of ataxin-2 polyglutamine expansion in patients with intermediate-range repeats

scientific article published on January 2002

Agreement between TOAST and CCS ischemic stroke classification: the NINDS SiGN study.

scientific article

Alpha-synuclein in blood and brain from familial Parkinson disease with SNCA locus triplication

scientific article

Amantadine is beneficial in restless legs syndrome

scientific article

Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery

scientific article

Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease

scientific article published in April 2005

Analysis of familial and sporadic restless legs syndrome in age of onset, gender, and severity features

scientific article

Analysis of polyglutamine-coding repeats in the TATA-binding protein in different neurodegenerative diseases

scientific article published on 10 September 2004

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

scientific article

Association between cardiac denervation and parkinsonism caused by alpha-synuclein gene triplication

scientific article

BDNF tagging polymorphisms and haplotype analysis in sporadic Parkinson's disease in diverse ethnic groups

scientific article published on 30 December 2006

Binding of polyomavirus large T antigen to the human hsp70 promoter is not required for trans activation

scientific article published on September 1986

Biofeedback for Writer's Cramp

scientific article published on 01 July 1997

Challenges and opportunities in clinical trials for spinal muscular atrophy

scientific article

Characterization of DCTN1 genetic variability in neurodegeneration.

scientific article published on June 2009

Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria

scientific article

Clinical features and changing patterns of neurodegenerative disorders on Guam, 1997-2000

scientific article published on 01 October 2002

Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α-synuclein triplication (Iowa kindred).

scientific article

Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations

scientific article

CoAIMs: a cost-effective panel of ancestry informative markers for determining continental origins.

scientific article

Common data elements for traumatic brain injury: recommendations from the biospecimens and biomarkers working group

scientific article

Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications

scientific article (publication date: February 2004)

Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutation

scientific article

Creation of an open-access, mutation-defined fibroblast resource for neurological disease research

scientific article

DNA haplotype analysis of CAG repeat in Taiwanese Huntington's disease patients

scientific article

Defining neurodegeneration on Guam by targeted genomic sequencing.

scientific article published on 3 February 2015

Deletion at ITPR1 underlies ataxia in mice and humans (SCA15)

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans

scientific article published in June 2007

Development and characterization of simple sequence repeats for Bipolaris sorokiniana and cross transferability to related species

scientific article

Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study

scientific article

Diagnostic criteria for psychosis in Parkinson's disease: report of an NINDS, NIMH work group

scientific article published on June 2007

Distinctive neuropathology revealed by α-synuclein antibodies in hereditary parkinsonism and dementia linked to chromosome 4p

scientific article published on 01 June 2000

EFFECTS OF ENDOPHYTE STATUS OF TALL FESCUE TISSUES ON THE EARTHWORM (EISENIA FETIDA)

scientific article published on 01 June 2001

Early cinematographic cases of postencephalitic parkinsonism and other movement disorders

scientific article published in January 1998

Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation

article

Effective treatment of orthostatic tremor with gabapentin ⬇️

scientific article published on September 1, 1998

Electrophysiological observations in hereditary parkinsonism-dementia with Lewy body pathology

scientific article

Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians

scientific article published in September 2002

Evidence suggesting that Homo neanderthalensis contributed the H2 MAPT haplotype to Homo sapiens

scientific article

Excess α-synuclein compromises phagocytosis in iPSC-derived macrophages

scientific article published on 21 August 2017

Exclusion of genetic linkage to 4q21-23 and 17q21 in a family with Lewy body parkinsonism

scientific article published on 01 March 1998

Exclusion of genetic linkage to 4q21‐23 and 17q21 in a family with lewy body parkinsonism

article

Exercise-induced dystonia as a preceding symptom of familial Parkinson's disease

scientific article

Familial Lewy body diseases

scientific article

Finding useful biomarkers for Parkinson's disease

article

Fostering partnerships: a perspective from the National Institute of Neurologic Disorders and Stroke (NINDS).

scientific article

GCH1 in early-onset Parkinson's disease.

scientific article

Genetic Classification of Primary Neurodegenerative Disease ⬇️

scientific article published on November 6, 1998

Genetic testing in Parkinson's disease

scientific article published in January 2005

Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease

scientific article

Genetics in clinical trials

scientific article published on 19 March 2009

Genetics of Parkinson's disease and parkinsonism

scientific article published on October 2006

Genetics of parkinsonism

scientific article

Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals

scientific article published on 20 November 2006

Genome-wide analysis of the parkinsonism-dementia complex of Guam

scientific article

Genome-wide association study reveals genetic risk underlying Parkinson's disease

scientific article

Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data

scientific journal article

Genomic investigation of alpha-synuclein multiplication and parkinsonism

scientific article published on June 2008

Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia

scientific article published in May 2007

HOW COMMON ARE THE "COMMON" NEUROLOGIC DISORDERS?

scientific article published on 01 July 2007

Hereditary dysautonomias: current knowledge and collaborations for the future.

scientific article

How common are the "common" neurologic disorders?

scientific article

ILAE Genetics Commission Conference Report: Molecular Analysis of Complex Genetic Epilepsies

article

Inducible overproduction of the mouse c-myc protein in mammalian cells

scientific article published on August 1986

Knowledge gaps and research recommendations for essential tremor

scientific article

L-dopa slows the progression of familial parkinsonism

scientific article published in The Lancet

Lewy bodies and parkinsonism in families with parkin mutations

scientific article (publication date: September 2001)

Limb cooling and focal dystonia

scientific article published in February 2004

Low frequency of alpha-synuclein mutations in familial Parkinson's disease

scientific article published in March 1998

Low frequency of pathogenic mutations in the ubiquitin carboxy-terminal hydrolase gene in familial Parkinson's disease

scientific article

Mining the genome for susceptibility to complex neurological disorders

scientific article published on September 2009

Multiple basal elements of a human hsp70 promoter function differently in human and rodent cell lines

scientific article published on October 1987

Mutation at the SCA17 locus is not a common cause of parkinsonism

scientific article published on 01 August 2003

Neurodegenerative disease: a different view of diagnosis

scientific article published in December 1999

Neurofibrillary tangles, amyotrophy and progressive motor disturbance in mice expressing mutant (P301L) tau protein

scientific article

Neurologic Disorders More Common Than Thought

Neuropathology of two members of a German-American kindred (Family C) with late onset parkinsonism

scientific article

No pathogenic mutations in the beta-synuclein gene in Parkinson's disease.

scholarly article by S Lincoln et al published 9 January 1999 in Neuroscience Letters

No pathogenic mutations in the persyn gene in Parkinson's disease

article

No pathogenic mutations in the β-synuclein gene in Parkinson's disease

article

Nutritional interventions in primary mitochondrial disorders: Developing an evidence base.

scientific article published on 20 September 2016

Olfactory function in restless legs syndrome ⬇️

scientific article published on May 1, 1998

Pain in Parkinson's disease. Common yet seldom recognized symptom is treatable

scientific article

Parkin mutations and early-onset parkinsonism in a Taiwanese cohort

scientific article published in January 2005

Parkinson's disease and dementia with Lewy bodies: a difference in dose?

scientific article published in The Lancet

Parkinson's disease and α-synuclein expression

scientific article

Parkinson's disease biomarkers: perspective from the NINDS Parkinson's Disease Biomarkers Program

scientific article published on 23 June 2017

Parkinson's disease induced pluripotent stem cells with triplication of the α-synuclein locus

scientific article published on 23 August 2011

Parkinson's genetics: An embarrassment of riches

article

Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease

scholarly article by Mathias Toft et al published 2007 in Movement Disorders

Phenomenology of ?Lubag? or X-linked dystonia-parkinsonism

article

Prevalence of Parkinson's disease in populations of African ancestry: a review.

scientific article published in July 2004

Priorities for hydrocephalus research: report from a National Institutes of Health-sponsored workshop

scientific article

Prioritized research recommendations from the National Institute of Neurological Disorders and Stroke Parkinson's Disease 2014 conference

scientific article published on 23 September 2014

Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2).

scientific article

Protected to Death

Risperidone is effective in severe hemichorea/hemiballismus

scientific article published on 01 March 1999

Risperidone-induced tardive dyskinesia and parkinsonism

scholarly article by Katrina Gwinn & John N Caviness published January 1997 in Movement Disorders

SCA2 may present as levodopa-responsive parkinsonism

scientific article

Smell testing is abnormal in ‘lubag’ or X-linked dystonia-parkinsonism: a pilot study

article

Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese

scientific article published in September 2000

Spinocerebellar ataxia type 3 phenotypically resembling parkinson disease in a black family

scientific article

Stroke Genetics Network (SiGN) study: design and rationale for a genome-wide association study of ischemic stroke subtypes

scientific article

Surgically responsive focal tremor associated with a frontal convexity meningioma

scientific article published in August 1998

The BioFIND study: Characteristics of a clinically typical Parkinson's disease biomarker cohort

scientific article

The NINDS Parkinson's disease biomarkers program

scientific article published on 7 October 2015

The SCA17 phenotype can include features of MSA-C, PSP and cognitive impairment

scientific article published on 21 June 2006

The Tau H1 Haplotype is associated with Parkinson's disease in the Norwegian population

article

The dardarin G 2019 S mutation is a common cause of Parkinson's disease but not other neurodegenerative diseases

scientific article

The effect of temperature on hand function in patients with tremor

article

The genetics of disorders with synuclein pathology and parkinsonism

scientific article

The relationship between nosology, etiology and pathogenesis in neurodegenerative diseases

scientific article published on 01 January 2008

The role of radiotracer imaging in Parkinson disease

scientific article

Unaltered alpha-synuclein blood levels in juvenile Parkinsonism with a parkin exon 4 deletion

scientific article published on 19 November 2004

Using previously genotyped controls in genome-wide association studies (GWAS): application to the Stroke Genetics Network (SiGN)

scientific article

When Is Ataxia Not Ataxia?

article published in 2004

Who is counseling the pregnant women who smoke? A pediatric viewpoint.

scientific article published in January 1995

Whole genome association studies of neuropsychiatric disease: An emerging era of collaborative genetic discovery

scientific article

X-linked dystonia (“Lubag”) presenting predominantly with parkinsonism: A more benign phenotype?

article

alpha-Synuclein locus triplication causes Parkinson's disease

scientific article

Paulina is supported by:

About Paulina

Help