Results 131 to 140 of about 3,349,140 (303)
, 2016 The National Library of Brazil and the National Rare Books Program Identification (Plano Nacional de Recuperação de Obras Raras), has announced the call for papers to the 12th National Meeting of Rare Books to be held 24th and 25th November 2016.
IFLA Rare Books & Special Collections Section
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Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers +19 more
wiley +1 more source
, 2000 The aim of the Congress is to present public health problems related to the increasing developments of genetic research, with particular regard to rare diseases.
Istituto Superiore di Sanita', Rome (Italy)
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Human Pegivirus Encephalitis With Brain Detection and Response to Sofosbuvir Ledipasvir
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Human pegivirus (HPgV‐1) has been associated with severe encephalomyelitis in immunocompromised patients. Its neurological spectrum remains poorly defined. We report a slowly progressive encephalitis in a person living with well‐controlled HIV, characterized by white matter abnormalities and inflammatory cerebrospinal fluid (CSF). HPgV RNA was
Antoine Moulignier +3 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Ischemic stroke, a major cause of mortality and long‐term disability, results from the abrupt cessation of cerebral blood flow due to vascular occlusion or rupture. Icosapent Ethyl (EPA‐EE), approved for hypertriglyceridemia, has anti‐inflammatory and antithrombotic properties that may lessen ischemic damage.
Mitra Mahmoudi Meymand +5 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Factors associated with relapse course and disability in myelin oligodendrocyte glycoprotein antibody‐associated disease (MOGAD) remain incompletely understood. Objectives To identify clinical and modifiable factors associated with relapse and disability in MOGAD. Methods In this ambispective multicentre cohort study using data from
Yingtao Wang +23 more
wiley +1 more source
Multilevel evidence of MECP2-associated mitochondrial dysfunction and its therapeutic implications
Frontiers in PsychiatryWe present a male patient carrying a pathogenic MECP2 p. Arg179Trp variant with predominant negative psychiatric features and multilevel evidence of mitochondrial dysfunction who responded to the cariprazine treatment.
Peter Balicza +8 more
doaj +1 more source
Registration OPEN: “A common international standard for rare materials cataloguing? Why? And how?”
, 2016 “A common international standard for rare materials cataloguing? Why? And how?” 22nd February 2016, Biblioteca Nacional de Portugal (Lisbon), 10am-6pm Registration is now open for this one-day conference being held at the Biblioteca Nacional de Portugal (
IFLA Rare Books & Special Collections Section
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An Easy Guide to Rare Diseases in Ireland: A Resource for the Media and the General Public
, 2020 This ‘Easy Guide’ has been produced to increase awareness about the challenges of living with a rare disease and to highlight the priorities that need to be included in the forthcoming National Plan for Rare Diseases (NPRD) in Ireland. The aims of this
Task Force on Rare Diseases
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Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino +25 more
wiley +1 more source