Preliminary psychometric validation of patient-reported outcomes relevant to individuals with spinal muscular atrophy and their caregivers [PDF]
Orphanet Journal of Rare DiseasesBackground There is a need to expand the current scope of assessment tools usually applied to patients with Spinal Muscular Atrophy (SMA). This study aimed to assess the psychometric properties (reliability and discriminant validity) of a set of new ...
Maria Grazia Cattinari +6 more
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A self-reported Brazilian registry of 5q-spinal muscular atrophy: data on natural history, genetic characteristics, and multidisciplinary care [PDF]
Arquivos de Neuro-PsiquiatriaBackground Spinal muscular atrophy linked to chromosome 5q (SMA-5q) is a neurodegenerative disorder caused by mutations in the SMN1 gene.
Rodrigo Holanda Mendonça +2 more
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Atrofia muscular proximal familiar [PDF]
Arquivos de Neuro-Psiquiatria, 1962 Os autores relatam dois casos de atrofia muscular proximal familiar, moléstia caracterizada por déficit motor e atrofias musculares de distribuição proximal, secundárias a lesão de neurônios periféricos. Assim, como em outros casos descritos na literatura, foi feito inicialmente o diagnóstico de distrofia muscular progressiva. O diagnóstico correto foi
Levy, José Antonio +1 more
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Wolfram syndrome: case report [PDF]
, 2004 Wolfram syndrome consists of the association of diabetes mellitus with optic atrophy. Other common findings are deafness, urinary tract and neurological disorders.
Chen, Jane +4 more
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Alois Alzheimer and vascular brain disease: Arteriosclerotic atrophy of the brain. [PDF]
, 2015 Alois Alzheimer is best known for his description of neurofibrillary changes in brain neurons of a demented patient, identifying a novel disease, soon named after him by Kraepelin.
Engelhardt, Eliasz, Grinberg, Lea T
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Análise volumétrica de cerebelo e tronco cerebral de pacientes com doença de Machado Joseph [PDF]
, 2011 Machado-Joseph disease, or spinocerebellar ataxia type 3(MJD/SCA3), is the most frequent late onset spinocerebellar ataxia and results from a CAG repeat expansion in the ataxin-3 gene. Previous studies have found correlation between atrophy of cerebellum
CAMARGOS, S T +2 more
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Clinical and genetic analysis of 29 Brazilian patients with Huntington’s disease-like phenotype [PDF]
, 2011 Huntington’s disease (HD) is a neurodegenerative disorder characterized by chorea, behavioral disturbances and dementia, caused by a pathological expansion of the CAG trinucleotide in the HTT gene. Several patients have been recognized with the typical
Adrian Danek +38 more
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Aspectos biológicos de la esquizofrenia [PDF]
, 1990 Se revisan algunos de los campos de investigación biológica en relación con la esquizofrenia: la genética, la neurofisiología (potenciales evocados), la tomografía axial computadorizada, etc.
Obiols Llandrich, Jordi
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Insuficiência pancreática exócrina em cão: Relato de caso
Pubvet, 2022 O pâncreas é uma glândula mista com funções endócrinas e exócrinas, responsável pela digestão de carboidratos, gorduras e proteínas através de enzimas e controle glicêmico, via hormônios insulina e glucagon.
Marina Belo de Barros +2 more
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Genetic heterogeneity in autosomal dominant optic atrophy [PDF]
, 2002 Purpose: Autosomal dominant optic atrophy is a hereditary optic neuropathy characterized by progressive visual loss in childhood, color vision anomalies, visual field defects and temporal pallor of the optic disc. This disease has been mapped to a 1.4 cM
Farah, Michel Eid +2 more
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