Search Results - "Watson, Eloise"

Low disease risk and penetrance in Leber hereditary optic neuropathy by Watson, Eloise C., Davis, Ryan L., Ravishankar, Shyamsundar, Copty, Joseph, Kummerfeld, Sarah, Sue, Carolyn M.

“…The risk of Leber hereditary optic neuropathy (LHON) has largely been extrapolated from disease cohorts, which underestimate the population prevalence of…”
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Author Response: Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis by Davis, Ryan L., Kumar, Kishore R., Watson, Eloise C., Sue, Carolyn M.

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Dystonia Responsive to Dopamine: POLG Mutations Should Be Considered If Sensory Neuropathy Is Present by Qiu, Jessica, Kumar, Kishore Raj, Watson, Eloise, Ahmad, Kate, Sue, Carolyn M., Hayes, Michael W.

“…The POLG gene encodes mitochondrial DNA polymerase, and mutations in this gene cause a spectrum of disorders related to mitochondrial DNA depletion or…”
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080 The diagnostic journey of mitochondrial disease patients by Rudaks, Laura I, Watson, Eloise, Lubomski, Michal, Edema-Hildebrand, Fabienne, Ahmad, Kate, Liang, Christina, Davis, Ryan, Sue, Carolyn

“…IntroductionMitochondrial disorders can often be challenging to diagnose and patients may undergo protracted investigative odysseys before reaching a…”
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Safety and acceptability of clozapine and risperidone in progressive multiple sclerosis: a phase I, randomised, blinded, placebo-controlled trial by La Flamme, Anne C, Abernethy, David, Sim, Dalice, Goode, Liz, Lockhart, Michelle, Bourke, David, Milner, Imogen, Garrill, Toni-Marie, Joshi, Purwa, Watson, Eloise, Smyth, Duncan, Lance, Sean, Connor, Bronwen

“…ObjectiveBecause clozapine and risperidone have been shown to reduce neuroinflammation in humans and mice, the Clozapine and Risperidone in Progressive…”
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The neuro-ophthalmology of inherited myopathies by Watson, Eloise, Ahmad, Kate, Fraser, Clare L

“…PURPOSE OF REVIEWInherited myopathies, and in particular mitochondrial myopathies, are heterogeneous disorders, and ocular manifestations may be the presenting…”
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Fundoscopy use in neurology departments and the utility of smartphone photography: a prospective prevalence and crossover diagnostic accuracy study amongst neurology inpatients by He, George, Dunn, Hamish P., Ahmad, Kate E., Watson, Eloise, Henderson, Andrew, Tynan, Dominique, Leaney, John, White, Andrew J., Hewitt, Alex W., Fraser, Clare L.

“…Background and purpose Although fundoscopy is a crucial part of the neurological examination, it is challenging, under‐utilized and unreliably performed. The…”
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Dietary nitrate reduces blood pressure and cerebral artery velocity fluctuations and improves cerebral autoregulation in transient ischemic attack patients by Fan, Jui-Lin, O'Donnell, Terrence, Lanford, Jeremy, Croft, Kevin, Watson, Eloise, Smyth, Duncan, Koch, Henrietta, Wong, Lai-Kin, Tzeng, Yu-Chieh

“…Accentuated blood pressure (BP) fluctuation and low cerebral blood flow (CBF) response to CO increase the risk of transient ischemic attack (TIA) recurrence…”
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Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants by Rudaks, Laura I., Watson, Eloise, Oboudiyat, Carly, Kumar, Kishore R., Sullivan, Patricia, Cowley, Mark J., Davis, Ryan L., Sue, Carolyn M.

“…Myopathy, lactic acidosis, and sideroblastic anemia 2 (MLASA2) is an autosomal recessive mitochondrial disorder caused by pathogenic variants in YARS2. YARS2…”
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Outcomes of an Integrated Multidisciplinary Clinic for People with Functional Neurological Disorder by Palmer, David D.G., Gamble, Mary, Higgins, Matthew, Maley, Jenny, Watson, Eloise

“…Background Functional neurological disorder (FND) is a disabling condition which has poor prognosis without treatment. This study aimed to evaluate the…”
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Gentamicin vestibulotoxicity with modern systemic dosing regimens: a prospective study using video-oculography by Smyth, Duncan, Mossman, Stuart, Weatherall, Mark, Jolliffe, Evan, Joshi, Purwa, Taylor, Jennifer, Thorne, Katie, Watson, Eloise, Leadbetter, Ruth, Mossman, Benjamin, Moss, Tawhai, Todd, Nicholas, Schneider, Erich

“…Objectives: To determine the incidence of gentamicin vestibulotoxicity with current dosing regimens, and to evaluate the feasibility of routine…”
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2366 Pathogenic mtDNA variants and potential disease risk in a healthy older population by Watson, Eloise, Davis, Ryan, Kaplan, Warren, Ravishankar, Shyamsundar, Copty, Joseph, Benn, Evan, Kummerfield, Sarah, Lacaze, Paul, Sue, Carolyn

“…Mitochondrial diseases are a heterogeneous group of disorders caused by pathogenic variants in mitochondrial (mtDNA) or nuclear (nDNA) genomes, estimated to…”
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Gentamicin vestibulotoxicity is uncommon with modern dosing regimens: a prospective study using video head impulse testing (P6.043) by Smyth, Duncan, Mossman, Stuart, Weatherall, Mark, Jolliffe, Evan, Taylor, Jennifer, Joshi, Purwa, Thorne, Katie, Watson, Eloise, Leadbetter, Ruth, Mossman, Benjamin, Moss, Tawhai, Schneider, Erich, Todd, Nick

“…Abstract only…”
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“Txt”-induced seizures indicating reading epilepsy in the mobile phone age by Watson, Eloise, Lewis, Jill, Cutfield, Nick

“…Abstract Reading epilepsy is a rare type of reflex epilepsy. The seizures often comprise facial twitching and alexia, but can be difficult to recognise and…”
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Inequities in provision of seizure care across the Wellington Region by Joshi, Purwa

“…Investigates whether adult patients presenting with an epileptic seizure to the emergency department (ED) of Wellington Hospital and Hutt Hospital were equally…”
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aTxta-induced seizures indicating reading epilepsy in the mobile phone age by Watson, Eloise, Lewis, Jill, Cutfield, Nick

“…Reading epilepsy is a rare type of reflex epilepsy. The seizures often comprise facial twitching and alexia, but can be difficult to recognise and mistaken for…”
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Faciobrachial dystonic seizures in an Lgi1 VGKC-complex antibody-mediated encephalitis by Watson, Eloise, Rosemergy, Ian, Taylor, Jennifer, Abernethy, David, Lanford, Jeremy

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Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants by Rudaks, Laura I, Watson, Eloise, Oboudiyat, Carly, Kumar, Kishore R, Sullivan, Patricia, Cowley, Mark J, Davis, Ryan L, Sue, Carolyn M

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Faciobrachial dystonic seizures in an Lgi1 VGKC-complex antibody-mediated encephalitis by Watson, Eloise, Rosemergy, Ian, Taylor, Jennifer, Abernethy, David, Lanford, Jeremy

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THE EMPLOYMENT EXPERIENCE OF MALE MENTAL RETARDATES: A STUDY OF THE RELATIONSHIP OF CERTAIN CULTURAL FACTORS TO THE EMPLOYMENT EXPERIENCE OF NEGRO AND PUERTO RICAN GRADUATES OF NEW YORK CITY CRMD CLASSES by WATSON, ELOISE JEAN

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