Výsledky vyhledávání - "Ricardo Hughes"

Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population

Publikováno v: Genes; Volume 13; Issue 6; Pages: 1076

Hereditary myopathies are a group of genetically determined muscle disorders comprising more than 300 entities. In Chile, there are no specific registries of the distinct forms of these myopathies. We now report the genetic findings of a series of Ch

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Inside minds, beneath diseases: social cognition in amyotrophic lateral sclerosis-frontotemporal spectrum disorder

Autor: Rafael Aranguiz, Gabriel Cea, Leonardo Cruz de Souza, Andrea Slachevsky, Laura Rousseff, Gada Musa, Leandro Boson Gambogi, Patricia Lillo, Paulo Caramelli, Antônio Lúcio Teixeira, Ricardo Hughes, Luciano Inácio Mariano, Andres Aragon, Daniel Valenzuela, Teresa Parrao, Henrique Cerqueira Guimarães

Publikováno v: Journal of neurology, neurosurgery, and psychiatry. 91(12)

ObjectiveTo compare social cognition performance between patients with amyotrophic lateral sclerosis (ALS) and those patients with behavioural variant frontotemporal dementia (bvFTD).MethodsWe included 21 participants with ALS, 20 with bvFTD and 21 h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1e333216682376dcf7c1efd90c5fd84
https://pubmed.ncbi.nlm.nih.gov/32962983

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Spinal cord infarction with ipsilateral segmental neuropathic pain and flaccid paralysis. A functional role for human afferent ventral root small sensory fibres

Autor: Ricardo Hughes, R J Guiloff, Mario Campero, Patricia Orellana, Jorge A. Bevilacqua

Publikováno v: Journal of the neurological sciences. 395

This paper illustrates the cases of two patients with an acute onset of right brachial neuropathic pain, flaccid paralysis and contralateral thermal and thermal pain hypoesthesia, without posterior column impairment nor pyramidal signs below the segm

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https://pubmed.ncbi.nlm.nih.gov/30300819

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Toward an objective measure of functional disability in dysferlinopathy

Autor: A. Trangulao, Claudia Castiglioni, Mario Campero, Patricio Gonzalez-Hormazabal, Lisanne Woudt, Ricardo Hughes, Jon Andoni Urtizberea, Gabriella A. Di Capua, Jorge A. Bevilacqua, Lilian Jara, Martin Krahn, Raúl Godoy-Herrera, Nicolas Lévy

Publikováno v: Muscle & Nerve. 53:49-57

Introduction Understanding the natural history of dysferlinopathy is essential to design and quantify novel therapeutic protocols. Our aim in this study was to assess, clinically and functionally, a cohort of patients with dysferlinopathy, using vali

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https://doi.org/10.1002/mus.24685

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PO255 Anterior spinal artery territory infarct. ipsilateral pain & weakness spinal cord infarction presenting with ipsilateral neuropathic pain and weakness. a functional role for afferent ventral root sensory fibres

Autor: Ricardo Hughes, Mario Campero, Jorge A. Bevilacqua, R J Guiloff, Patricia Orellana

Publikováno v: Journal of Neurology, Neurosurgery & Psychiatry. 88:A79.4-A80

Introduction Infarction of the anterior spinal artery territory manifests with bilateral segmental lower motor neurone weakness and, below the level of injury, pyramidal signs and loss of pain and thermal sensation. Two patients presented with neurop

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https://doi.org/10.1136/jnnp-2017-abn.276

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Toward an objective measure of functional disability in dysferlinopathy

Autor: Lisanne, Woudt, Gabriella A, Di Capua, Martin, Krahn, Claudia, Castiglioni, Ricardo, Hughes, Mario, Campero, Alejandra, Trangulao, Patricio, González-Hormazábal, Raúl, Godoy-Herrera, Nicolas, Lévy, Jon Andoni, Urtizberea, Lilian, Jara, Jorge A, Bevilacqua

Publikováno v: Musclenerve. 53(1)

Understanding the natural history of dysferlinopathy is essential to design and quantify novel therapeutic protocols. Our aim in this study was to assess, clinically and functionally, a cohort of patients with dysferlinopathy, using validated scales.

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https://pubmed.ncbi.nlm.nih.gov/25900324

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P.5.5 Clinical and genetic characterization of a cohort of 30 Chilean patients with dysferlinopathy

Autor: Jorge A. Bevilacqua, Lisanne Woudt, Mario Campero, Patricio Gonzalez-Hormazabal, Lilian Jara, Jorge Díaz, Ricardo Hughes, Claudia Castiglioni, B. Velásquez, Martin Krahn, Raúl Godoy-Herrera, Nicolas Lévy, G.A. Di Capua

Publikováno v: Neuromuscular Disorders. 23:765

Mutations in the dysferlin gene lead to LGMD2B and Miyoshi myopathy among other phenotypes. We describe a cohort of 30 patients, from 24 non-related Chilean families, harbouring point mutations in the DYSF gene. Diagnosis was based on clinical findin

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https://doi.org/10.1016/j.nmd.2013.06.457

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