Journal ArticleJAMA Neurol · May 1, 2025
IMPORTANCE: Magnetic resonance imaging (MRI) paired with appropriate disease-specific machine learning holds promise for the clinical differentiation of Parkinson disease (PD), multiple system atrophy (MSA) parkinsonian variant, and progressive supranuclea ...
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Journal ArticleBrain Stimul · 2025
BACKGROUND: Writer's cramp (WC) dystonia is an involuntary movement disorder with distributed abnormalities in the brain's motor network. Prior studies established the potential for repetitive transcranial magnetic stimulation (rTMS) to either premotor cor ...
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Journal ArticleTransl Vis Sci Technol · August 1, 2024
PURPOSE: Changes in retinal structure and microvasculature are connected to parallel changes in the brain. Two recent studies described machine learning algorithms trained on retinal images and quantitative data that identified Alzheimer's dementia and mil ...
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Journal ArticleTransl Vis Sci Technol · January 2, 2024
PURPOSE: To investigate retinal vascular characteristics using ultra-widefield (UWF) scanning laser ophthalmoscopy in Parkinson disease (PD). METHODS: Individuals with an expert-confirmed clinical diagnosis of PD and controls with normal cognition without ...
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Journal ArticlePLoS One · 2024
OBJECTIVE: To characterize retinal and choroidal microvascular and structural changes in patients who are gene positive for mutant huntingtin protein (mHtt) with symptoms of Huntington's Disease (HD). METHODS: This study is a cross-sectional comparison of ...
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Journal ArticleOphthalmol Sci · December 2023
PURPOSE: To quantify rate of change of retinal microvascular and choroidal structural parameters in subjects with Parkinson's disease (PD) compared with controls using OCT and OCT angiography (OCTA). DESIGN: Prospective longitudinal study. PARTICIPANTS: Se ...
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Journal ArticleLancet Neurol · June 2023
BACKGROUND: Valbenazine is a highly selective vesicular monoamine transporter 2 (VMAT2) inhibitor approved for treatment of tardive dyskinesia. To address the ongoing need for improved symptomatic treatments for individuals with Huntington's disease, valbe ...
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Journal ArticleNeurology Clinical Practice · May 25, 2023
Background and Objectives Ulotaront (SEP-363856) is a trace amine-associated receptor 1 agonist with 5-HT1A receptor agonist activity currently in phase 3 clinical development for the treatment of schizophrenia. In this exploratory, flexibly dos ...
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Journal ArticleMov Disord · January 2023
BACKGROUND: Writer's cramp (WC) dystonia is a rare disease that causes abnormal postures during the writing task. Successful research studies for WC and other forms of dystonia are contingent on identifying sensitive and specific measures that relate to th ...
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Journal ArticleNat Med · October 2022
SIGNAL is a multicenter, randomized, double-blind, placebo-controlled phase 2 study (no. NCT02481674) established to evaluate pepinemab, a semaphorin 4D (SEMA4D)-blocking antibody, for treatment of Huntington's disease (HD). The trial enrolled a total of 2 ...
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Journal ArticleNeurosurgery · July 1, 2022
BACKGROUND: Deep brain stimulation (DBS) is an effective therapy in advanced Parkinson disease (PD). Although both subthalamic nucleus (STN) and globus pallidus (GP) DBS show equivalent efficacy in PD, combined stimulation may demonstrate synergism. OBJECT ...
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Journal ArticleOphthalmol Retina · January 2022
PURPOSE: To compare radial peripapillary capillary (RPC) plexus vascular parameters and retinal nerve fiber layer (RNFL) thickness between those with Parkinson's disease (PD) and controls. DESIGN: Prospective, cross-sectional study. PARTICIPANTS: A total o ...
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Journal ArticleOphthalmol Sci · December 2021
PURPOSE: To assess the repeatability of peripapillary OCT angiography (OCTA) in those with Alzheimer disease (AD), mild cognitive impairment (MCI), Parkinson disease (PD), or normal cognition. DESIGN: Cross-sectional. PARTICIPANTS: Patients with a clinical ...
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Journal ArticleJAMA · September 14, 2021
IMPORTANCE: Urate elevation, despite associations with crystallopathic, cardiovascular, and metabolic disorders, has been pursued as a potential disease-modifying strategy for Parkinson disease (PD) based on convergent biological, epidemiological, and clin ...
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Journal ArticleComplement Ther Clin Pract · May 2021
BACKGROUND: Parkinson's Disease (PD) leads to poor quality of life and caregiver burden. Mindfulness-based stress reduction (MBSR) may improve these symptoms. We assessed the impact of a 9-week MBSR course on people with PD (PwP) and their care partners (C ...
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Journal ArticleJAMA Ophthalmol · February 1, 2021
IMPORTANCE: Noninvasive retinal imaging may detect structural changes associated with Parkinson disease (PD) and may represent a novel biomarker for disease detection. OBJECTIVE: To characterize alterations in the structure and microvasculature of the reti ...
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Journal ArticleJAMA Neurol · August 1, 2017
IMPORTANCE: Tetrabenazine is efficacious for chorea control; however, tolerability concerns exist. Deutetrabenazine, a novel molecule that reduces chorea, was well tolerated in a double-blind, placebo-controlled study. OBJECTIVES: To evaluate the safety an ...
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Journal ArticleNeurology · January 10, 2017
OBJECTIVE: To test the hypothesis that chronic treatment of early-stage Huntington disease (HD) with high-dose coenzyme Q10 (CoQ) will slow the progressive functional decline of HD. METHODS: We performed a multicenter randomized, double-blind, placebo-cont ...
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Journal ArticleJ Parkinsons Dis · 2017
BACKGROUND: Parkinson's disease (PD) is among the most prevalent neurodegenerative conditions. While motor and non-motor aspects of this disease have been well characterized, no objective biomarker exists to support an accurate clinical diagnosis. However, ...
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Journal ArticleNeuron · December 21, 2016
Dystonia is a brain disorder causing involuntary, often painful movements. Apart from a role for dopamine deficiency in some forms, the cellular mechanisms underlying most dystonias are currently unknown. Here, we discover a role for deficient eIF2α signal ...
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Journal ArticleJAMA · July 5, 2016
IMPORTANCE: Deutetrabenazine is a novel molecule containing deuterium, which attenuates CYP2D6 metabolism and increases active metabolite half-lives and may therefore lead to stable systemic exposure while preserving key pharmacological activity. OBJECTIVE ...
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Journal ArticleMov Disord · July 2016
BACKGROUND: Essential tremor is a neurological condition characterized by tremor during voluntary movement. To date, 3 loci linked to familial essential tremor have been identified. METHODS: We examined 48 essential tremor patients in 5 large essential tre ...
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Journal ArticleLancet Neurol · August 2015
BACKGROUND: A systematic assessment of potential disease-modifying compounds for Parkinson's disease concluded that pioglitazone could hold promise for the treatment of patients with this disease. We assessed the effect of pioglitazone on the progression o ...
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Journal ArticleParkinsonism Relat Disord · April 2014
Falls in Parkinson's disease (PD) are common and frequently devastating. Falls prevention is an urgent priority, but there is no accepted program that specifically addresses the risk profile in PD. Therefore, we aimed to provide consensus-based clinical pr ...
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Journal ArticleJAMA Neurol · January 2013
BACKGROUND Latrepirdine is an orally administered experimental small molecule that was initially developed as an antihistamine and subsequently was shown to stabilize mitochondrial membranes and function, which might be impaired in Huntington disease. OBJE ...
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Journal ArticleNeurology · March 6, 2012
OBJECTIVE: Age at onset of diagnostic motor manifestations in Huntington disease (HD) is strongly correlated with an expanded CAG trinucleotide repeat. The length of the normal CAG repeat allele has been reported also to influence age at onset, in interact ...
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Journal ArticleJournal of Medical Speech Language Pathology · March 1, 2012
A 53-year-old woman with bilateral striatopallidodentate calcinosis (BSPDC) was referred for motor speech examination, and high-quality acoustic recordings were obtained. Three speech-language pathologists experienced in auditory-perceptual assessment of s ...
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Journal ArticleParkinsonism Relat Disord · December 2011
OBJECTIVE: To assess short-term safety and tolerability of estrogen replacement therapy in post-menopausal women with Parkinson's disease (PD). METHODS: In a multi-center randomized, double-blind, placebo-controlled pilot trial, post-menopausal women with ...
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Journal ArticleClinical Case Studies · June 1, 2010
Gilles de la Tourette's syndrome (GTS) is a neuropsychiatric disorder that often presents with a complex array of motor and phonic tics that persist over the majority of a person's life. GTS often presents with comorbidities such as attention-deficit hyper ...
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Journal ArticleClinical Case Studies · April 1, 2010
Gilles de la Tourette's syndrome (GTS) is a neuropsychiatric disorder that often presents with a complex array of motor and phonic tics that persist over the majority of a person's life. GTS often presents with comorbidities such as attention deficit hyper ...
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Journal ArticleAnn Hum Genet · March 2010
Parkinson disease (PD) is a chronic neurodegenerative disorder with a cumulative prevalence of greater than one per thousand. To date three independent genome-wide association studies (GWAS) have investigated the genetic susceptibility to PD. These studies ...
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Journal ArticleClin Neuropharmacol · 2009
OBJECTIVE: We report 3 cases of impulse control disorders (ICDs) that developed in patients with Parkinson disease treated with the novel dopamine agonist, rotigotine. METHODS: Three patients were identified retrospectively who developed symptoms of an ICD ...
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Journal ArticleCurr Med Res Opin · October 2008
OBJECTIVE: This study compares once-daily ropinirole 24-h prolonged release and three-times-daily ropinirole immediate release in patients with early Parkinson's disease. METHODS: This multicentre, double-blind, non-inferiority crossover study involved 161 ...
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Journal ArticleBMC Neurol · March 28, 2008
BACKGROUND: Pesticides and correlated lifestyle factors (e.g., exposure to well-water and farming) are repeatedly reported risk factors for Parkinson's disease (PD), but few family-based studies have examined these relationships. METHODS: Using 319 cases a ...
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Journal ArticleClin Neuropharmacol · 2008
OBJECTIVE: To report an 18-month follow-up on creatine and minocycline futility study, the Neuroprotective Exploratory Trials in Parkinson Disease, Futility Study 1 (NET-PD FS-1). BACKGROUND: The NET-PD FS-1 futility study on creatine and minocycline found ...
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Journal ArticleArch Neurol · April 2007
OBJECTIVE: To assess associations between Parkinson disease (PD) and putatively protective factors-smoking, caffeine (coffee, tea, and soft drinks), and nonsteroidal anti-inflammatory drugs (aspirin, ibuprofen, and naproxen). DESIGN: Family-based case-cont ...
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Journal ArticleNeurology · January 2, 2007
OBJECTIVE: To determine if future studies of coenzyme Q(10) and GPI-1485 in Parkinson disease (PD) may be warranted. METHODS: We conducted a randomized, double-blind, calibrated futility clinical trial of coenzyme Q10 and GPI-1485 in early untreated PD usi ...
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Journal ArticleAnn Neurol · September 2006
OBJECTIVE: Inducible nitric oxide synthase, a protein product of NOS2A, generates nitric oxide as a defense mechanism, but excessive levels threaten cellular survival. NOS2A is a candidate gene for Parkinson's disease (PD) that potentially interacts with c ...
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Journal ArticleNeurology · March 14, 2006
BACKGROUND: Creatine and minocycline were prioritized for testing in Phase II clinical trials based on a systematic evaluation of potentially disease modifying compounds for Parkinson disease (PD). OBJECTIVE: To test whether creatine and minocycline alter ...
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Journal ArticleAnn Neurol · March 2006
OBJECTIVE: Glial cell line-derived neurotrophic factor (GDNF) exerts potent trophic influence on midbrain dopaminergic neurons. This randomized controlled clinical trial was designed to confirm initial clinical benefits observed in a small, open-label tria ...
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Journal ArticleMov Disord · October 2005
Genomic convergence is a multistep approach that combines gene expression with genomic linkage to identify and prioritize susceptibility genes for complex disease. As a first step, we previously performed linkage analysis on 174 multiplex Parkinson's disea ...
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Journal ArticleArch Neurol · June 2005
BACKGROUND: Parkinson disease (PD) is characterized by loss of dopaminergic neurons in the substantia nigra. Genes contributing to rare mendelian forms of PD have been identified, but the genes involved in the more common idiopathic PD are not well underst ...
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Journal ArticleNeurology · February 8, 2005
OBJECTIVE: To determine whether people with Parkinson disease (PD) are less likely to report a history of cigarette smoking than their unaffected siblings. BACKGROUND: Previous studies reported that individuals with PD are half as likely to have smoked as ...
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Journal ArticleArch Neurol · February 2005
BACKGROUND: Rasagiline (n-propargyl-1[R]-aminoindan) mesylate is a novel irreversible selective monoamine oxidase type B inhibitor, previously demonstrated to improve symptoms in early Parkinson disease (PD). OBJECTIVE: To determine the safety, tolerabilit ...
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Journal ArticleNeurogenetics · September 2004
We and others have previously detected association of the Tau H1 haplotype on chromosome 17 with risk of idiopathic Parkinson disease (PD). The H1 haplotype appears to have a fundamental importance in neurodegeneration, as multiple studies have shown it is ...
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Journal ArticleAm J Hum Genet · June 2004
The pathogenic process responsible for the loss of dopaminergic neurons within the substantia nigra of patients with Parkinson disease (PD) is poorly understood. Current research supports the involvement of fibroblast growth factor (FGF20) in the survival ...
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Journal ArticleClin Neurol Neurosurg · September 2003
We report a case of a woman with both orthostatic tremor and primary gait ignition failure, a novel combination. We review the literature on both of these conditions, and discuss possible neuroanatomic substrates. ...
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Journal ArticleArch Neurol · July 2003
BACKGROUND: Previously, we detected linkage of idiopathic Parkinson disease (PD) to the region on chromosome 6 that contains the Parkin gene (D6S305; logarithm of odds score, 5.47) in families with at least one individual with age at onset younger than 40 ...
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Journal ArticleAnn Neurol · May 2003
Parkin, an E2-dependent ubiquitin protein ligase, carries pathogenic mutations in patients with autosomal recessive juvenile parkinsonism, but its role in the late-onset form of Parkinson's disease (PD) is not firmly established. Previously, we detected li ...
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Journal ArticleNeurology · April 8, 2003
Recently, the authors demonstrated linkage in idiopathic PD to a region on chromosome 8p that contains the N-acetyltransferase genes, NAT1 and NAT2. The authors examined NAT1 and NAT2 for association with PD using family-based association methods and singl ...
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Journal ArticleAm J Hum Genet · April 2003
Mitochondrial (mt) impairment, particularly within complex I of the electron transport system, has been implicated in the pathogenesis of Parkinson disease (PD). More than half of mitochondrially encoded polypeptides form part of the reduced nicotinamide a ...
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Journal ArticleAm J Hum Genet · April 2002
To identify genes influencing age at onset (AAO) in two common neurodegenerative diseases, a genomic screen was performed for AAO in families with Alzheimer disease (AD; n=449) and Parkinson disease (PD; n=174). Heritabilities between 40%--60% were found i ...
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Journal ArticleNeurology Report · January 1, 2002
Parkinson disease PD is a chronic progressive neurological disorder, often resulting in substantial limitation of function. A number of self-report and performance-based measures have been used to quantify change of disease state or function in people who ...
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Journal ArticleJAMA · November 14, 2001
CONTEXT: The relative contribution of genes vs environment in idiopathic Parkinson disease (PD) is controversial. Although genetic studies have identified 2 genes in which mutations cause rare single-gene variants of PD and observational studies have sugge ...
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Journal ArticleJAMA · November 14, 2001
CONTEXT: The human tau gene, which promotes assembly of neuronal microtubules, has been associated with several rare neurologic diseases that clinically include parkinsonian features. We recently observed linkage in idiopathic Parkinson disease (PD) to a r ...
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Journal ArticleSouth Med J · August 2000
BACKGROUND: Dystonia is a neurologic disorder that interferes with normal motor control, causing development of bizarre postures and writhing, twisting movements. METHODS: The patient database of the Duke Movement Disorders Clinic was searched to identify ...
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Journal ArticleQual Life Res · 2000
The purpose of this study was to derive patient preferences and utilities for outcomes associated with treatment of motor fluctuations, or 'off-time', for patients with Parkinson's disease (PD). Visual analog scale (VAS) and standard gamble (SG) approaches ...
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Journal ArticleNeurosci Lett · April 3, 1998
Apolipoprotein E (apoE) is a 34-kDa protein implicated in Alzheimer's disease (AD) that has recently been identified in neuronal cytoplasm. In cultured neurons, the two major isoforms of apoE (E3 and E4) differentially affect neurite extension, microtubule ...
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Journal ArticleMov Disord · July 1996
We describe a 13-year-old boy with Tourette's syndrome (TS) manifested chiefly by severe coprolalia, obsessive compulsive disorder, and attention deficit hyperactivity disorder. He was treated with unilateral injections of botulinum toxin to the vocal cord ...
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Journal ArticleNeurology · January 1996
We studied 53 patients (64% females) with static brain lesions who developed progressive movement disorders. Of these, 50 (94%) had dystonia, 17 (32%) tremor, eight (15%) parkinsonism, seven (13%) myoclonus, and three (6%) chorea. The precipitating insults ...
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Journal ArticleUps J Med Sci Suppl · 1990
Docosahexaenoic acid (DHA), the major biosynthetic product of the omega-3 family of fatty acids, is uniquely concentrated in the retina and synaptic membranes. In the perinatal period of life, when the bulk of synaptogenesis and photoreceptor biogenesis ta ...
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Journal ArticleProceedings of the National Academy of Sciences · April 1989
Docosahexaenoic acid [22:6 omega 3; 22:6(4, 7, 10, 13, 16, 19)] is concentrated in phospholipids of cellular membranes from brain and retina. Although linolenic acid [18:3 omega 3; 18:3(9, 12, 15)] is the major omega 3 fatty acid of mouse dams' mil ...
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Journal ArticleJ Neurosci Res · 1988
The phospholipid and fatty acid contents of developing rod photoreceptor cells were determined in dissociated photoreceptor cells obtained from normal mice and from rd mice exhibiting an inherited retinal degeneration. Photoreceptors were dissociated from ...
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Journal ArticleExp Eye Res · January 1987
The fatty-acid composition of retinal lipids in developing control and rd mice (C57BL/6J) was determined. In addition, fatty-acid composition in brain and retina of normal and rd adult animals was compared. At 11 days of postnatal age, rd retinas contained ...
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Journal ArticleBiochem Biophys Res Commun · December 15, 1986
Docosahexaenoate and arachidonate were found to be significantly decreased in plasma phospholipids from Usher's syndrome patients. The fatty acid content of plasma triacylglycerols was not changed in these patients. Usher's syndrome, an autosomal recessive ...
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Journal ArticleProc Natl Acad Sci U S A · February 1982
Two-dimensional crystals of rhodopsin have been prepared from purified frog disk membranes by using the detergent Tween 80. The space group of the orthorhombic crystals is p22121; the unit cell dimensions are 47 X 151 A. Projection maps of negatively stain ...
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