SPG4 and Dementia: Expanding the Clinical Spectrum
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
The web as a corpus: a resource for translation
[full article, abstract in English; abstract in Lithuanian] Accessing ready-made corpora may not be always easy. This is especially true for less dominant languages such as Persian for which the number of available corpora is very limited.
Helia Vaezian
doaj +1 more source
Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers
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
Developmental considerations in children’s song exposure: A commentary on Verosky (2022)
In this commentary, I discuss Verosky’s article, “Essen as a Corpus of Early Musical Experience” from my position as a developmental psychologist. I consider how Verosky’s findings connect to what is known about early cognitive development, discuss how ...
Haley E. Kragness
doaj +1 more source
Corpora and data preparation [PDF]
The data selection and data preparation efforts which led to the TIPSTER and Fifth Message Understanding Conference (MUC-5) evaluation corpora involved substantial effort, time and resources. The Government commitment to these selection and preparation efforts stems from four TIPSTER Program objectives: (1) to provide training data that would promote ...
Lynn Carlson +2 more
openaire +1 more source
ABSTRACT Background Central nervous system (CNS) inflammatory demyelinating syndromes, including multiple sclerosis (MS), aquaporin‐4 antibody–positive neuromyelitis optica spectrum disorder (AQP4 + NMOSD), and myelin oligodendrocyte glycoprotein (MOG) antibody–associated disease (MOGAD), occasionally overlap.
Bade Gulec +6 more
wiley +1 more source
Proposta de ordem sequencial e criação de sistemas informáticos para extração terminológica bilíngue em corpora paralelos - inglês/português - com vistas à tradução de texto das ciências médicas [PDF]
Tese (doutorado) - Universidade Federal de Santa Catarina, Centro de Comunicação e Expressão, Programa de Pós-Graduação em Estudos da Tradução, Florianópolis, 2013.A extração terminológica bilíngue cada vez mais se firma como um campo de pesquisa ...
Bartholamei Junior, Lautenai Antonio
core
Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez +10 more
wiley +1 more source
Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar +3 more
wiley +1 more source
Screening Routine Clinical Notes for Epilepsy Surgery Candidates Using Large Language Models
ABSTRACT Objective Epilepsy surgery is severely underutilized despite proven efficacy, with substantial under‐referral of eligible patients in routine clinical practice. This study evaluated the potential role of large language models (LLMs) as decision‐support tools for screening unstructured clinical notes to identify epilepsy surgery candidates and ...
Uriel Fennig +9 more
wiley +1 more source

