Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone +8 more
wiley +1 more source
Responsabilidade do estado pelos atos praticados por seus agentes [PDF]
, 1984 Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro de Ciências ...
Flores, Anita Wessling
core
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Terrorismo de Estado: o caso da Operação Condor e a participação do governo brasileiro [PDF]
, 2011 TCC (graduação) - Universidade Federal de Santa Catarina, Centro de Filosofia e Ciências Humanas, Curso de Ciências Sociais.O presente trabalho encaixa-se dentro de uma reflexão históricodialética, cujo objetivo consiste em identificar a participação do ...
Schultz, Sabrina
core
Dementia Incidence in Individuals With Parkinson's Disease in the Framingham Heart Study
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Limited information exists on incident dementia in individuals with Parkinson's disease (PD) in US community‐based samples. We examined cognitive statuses and PD diagnoses of 183 individuals in the Framingham Heart Study (FHS) to establish incident dementia, mortality rates, associations with sex, age at PD onset, and education level.
Joshi Dookhy +11 more
wiley +1 more source
Justiça social e a tributação no contexto da reforma do estado brasileiro nos anos 90 [PDF]
, 2001 Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro de Ciências Jurídicas.
Palmeira, Marcos Rogério
core
¿DEL ESTADO AUTONÓMICO AL ESTADO FEDERAL? LA ILUSIÓN DE VOLAR CON LAS ALAS CORTADAS
Teoría & Derecho, 2020 El autor considera que las constituciones democráticas de España (1931, 1978) no han tratado con acierto el asunto de la distribución territorial del poder porque han negado la realidad de un Estado en el que conviven distintos sentimientos nacionales ...
Francisco Caamaño
doaj
Aquaporin‐4 in Narcolepsy Type 1: Investigation of Perivascular Fluid Movement in Sleep Disorders
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Narcolepsy type 1 (NT1) is caused by the loss of hypocretin‐1 leading to excessive daytime sleepiness and cataplexy. Additionally, disrupted nighttime sleep has become an increasingly recognized feature of NT1. As the glymphatic fluid movement has been linked to sleep architecture, we investigated cerebrospinal fluid (CSF) Aquaporin‐4 (AQP4 ...
Jonas Ranke +5 more
wiley +1 more source
O pluralismo e o controle dos poderes do Estado [PDF]
, 1993 Tese (doutorado) - Universidade Federal de Santa Catarina, Florianópolis, 1993.A tese objeto deste resumo examina os meios constitucionais de controle dos órgãos do poder estatal e, especificamente, o papel que, nessa tarefa, no Brasil, pode caber aos ...
Dobrowolski, Silvio
core