Search Results - "Viehoever, Amy"
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Gene therapy for aromatic L-amino acid decarboxylase deficiency by MR-guided direct delivery of AAV2-AADC to midbrain dopaminergic neurons
Published in Nature communications (12-07-2021)“…Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder characterized by deficient synthesis of dopamine and serotonin. It presents in…”
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Global motion detection and censoring in high‐density diffuse optical tomography
Published in Human brain mapping (01-10-2020)“…Motion‐induced artifacts can significantly corrupt optical neuroimaging, as in most neuroimaging modalities. For high‐density diffuse optical tomography…”
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Results of the First GNAO1-Related Neurodevelopmental Disorders Caregiver Survey
Published in Pediatric neurology (01-08-2021)“…We sought to expand our knowledge of the clinical spectrum of GNAO1-related neurodevelopmental disorders through a caregiver survey reviewing medical and…”
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Fractality of tics as a quantitative assessment tool for Tourette syndrome
Published in Journal of the Royal Society interface (23-02-2022)“…Tics manifest as brief, purposeless and unintentional movements or noises that, for many individuals, can be suppressed temporarily with effort. Previous work…”
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Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder
Published in Pediatric neurology (01-06-2016)“…Abstract Objectives Mutations in GNAO1 have been described in 11 patients to date. Although most of these individuals had epileptic encephalopathy, four…”
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Caregiver descriptions of dystonia in cerebral palsy
Published in Annals of clinical and translational neurology (01-02-2024)“…Objective To determine how caregivers describe dystonia in people with cerebral palsy (CP). Methods In this prospective cohort study, paper surveys were…”
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Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication
Published in American journal of medical genetics. Part A (01-08-2014)“…The phenotype of recurrent ∼600 kb microdeletion and microduplication on proximal 16p11.2 is characterized by a spectrum of neurodevelopmental impairments…”
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A Scale to Assess Activities of Daily Living in Pantothenate Kinase‐Associated Neurodegeneration
Published in Movement disorders clinical practice (Hoboken, N.J.) (01-02-2019)“…ABSTRACT Objective Pantothenate kinase‐associated neurodegeneration (PKAN) is an autosomal‐recessive, neurodegenerative disorder with a mixed‐motor phenotype…”
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Multiclass discrimination of cervical precancers using Raman spectroscopy
Published in Journal of Raman spectroscopy (01-02-2009)“…Raman spectroscopy has the potential to differentiate among the various stages leading to high‐grade cervical cancer such as normal, squamous metaplasia, and…”
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Reliability and validity of the Wolfram Unified Rating Scale (WURS)
Published in Orphanet journal of rare diseases (14-11-2012)“…Wolfram syndrome (WFS) is a rare, neurodegenerative disease that typically presents with childhood onset insulin dependent diabetes mellitus, followed by optic…”
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Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration
Published in Orphanet journal of rare diseases (12-07-2019)“…Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive neurodegenerative disorder with brain iron accumulation (NBIA). To assess…”
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Reward enhances tic suppression in children within months of tic disorder onset
Published in Developmental cognitive neuroscience (01-02-2015)“…•We examine a common, yet rarely studied, population: children with recent-onset tics.•The ability to suppress tics is present within months of tic…”
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Organotypic Raft Cultures as an Effective In Vitro Tool for Understanding Raman Spectral Analysis of Tissue
Published in Photochemistry and photobiology (01-11-2003)“…There is a growing body of evidence showing that optical spectroscopy has the potential to be a useful in vivo diagnostic tool. Yet, so far there is no…”
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Mapping distributed brain function and networks with diffuse optical tomography
Published in Nature photonics (01-06-2014)“…Mapping of human brain function has revolutionized systems neuroscience. However, traditional functional neuroimaging by positron emission tomography or…”
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Tic Suppression in Children With Recent-Onset Tics Predicts 1-Year Tic Outcome
Published in Journal of child neurology (01-10-2019)“…Successful voluntary tic suppression is a key component of the behavioral interventions that are used to treat tic disorders. This study aimed to examine tic…”
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Management of Pediatric Movement Disorders: Present and Future
Published in Seminars in pediatric neurology (01-04-2018)“…Management of movement disorders in children is an evolving field. This article outlines the major categories of treatment options for pediatric movement…”
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Tic suppression in children with recent-onset tics predicts one-year tic outcome
Published in Journal of child neurology (26-06-2019)“…Successful voluntary tic suppression is a key component of the behavioral interventions that are used to treat tic disorders. This study aimed to examine tic…”
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Characterization of Raman Spectra Measured in Vivo for the Detection of Cervical Dysplasia
Published in Applied spectroscopy (01-09-2007)“…Raman spectroscopy has been shown to have the potential for providing differential diagnosis in the cervix with high sensitivity and specificity in previous…”
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Thalamic deep brain stimulation for acquired dystonia in children and young adults: a phase 1 clinical trial
Published in Journal of neurosurgery. Pediatrics (01-02-2021)“…The aim of this study was to evaluate the feasibility and preliminary efficacy and safety of combined bilateral ventralis oralis posterior/ventralis…”
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