Results 21 to 30 of about 69 (68)

X-linked spinal and bulbar muscular atrophy (Kennedy's disease) with long-term electrophysiological evaluation: case report Atrofia muscular bulbo-espinal ligada ao cromossomo X (doença de Kennedy) com seguimento eletrofisiológico de longo prazo: relato de caso

open access: yesArquivos de Neuro-Psiquiatria, 2005
X-linked spinal and bulbar muscular atrophy or Kennedy's disease is an adult-onset motor neuronopathy caused by a CAG repeat expansion within the first exon of an androgen receptor gene.
João Aris Kouyoumdjian   +2 more
doaj   +1 more source

Porfiria aguda intermitente: valor do teste de Watson e Schwartz para o diagnóstico

open access: yesArquivos de Neuro-Psiquiatria, 1957
É apresentado um caso de Porfiria aguda intermitente em uma jovem de 20 anos do sexo feminino. Os primeiros sintomas - cólicas abdominais periódicas - surgiram aos 15 anos de idade.
José Lamartine de Assis
doaj   +1 more source

The review of the methods to obtain non-neuronal cells to study glial influence on Amyotrophic Lateral Sclerosis pathophysiology at molecular level in vitro Revisão dos métodos de obtenção de células não neuronais para o estudo da fisiopatologia da Esclerose Lateral Amiotrófica ao nível molecular in vitro

open access: yesActa Cirúrgica Brasileira, 2010
PURPOSE: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that displays a rapid evolution. Current treatments have failed to revert clinical symptoms because the mechanisms involved in the death of motoneuron are still unknown ...
Juliana Milani Scorisa   +4 more
doaj   +1 more source

Clinical and molecular analysis of spinal muscular atrophy in Brazilian patients

open access: yesGenetics and Molecular Biology, 1999
Spinal muscular atrophy (SMA), the second most common lethal autosomal recessive disorder, has an incidence of 1:10,000 newborns. SMA is divided into acute (Werdnig-Hoffmann disease, type I), intermediate (type II) and juvenile forms (Kugelberg-Welander ...
C.A. Kim   +7 more
doaj   +1 more source

Therapeutic advances in 5q-linked spinal muscular atrophy

open access: yesArquivos de Neuro-Psiquiatria
Spinal muscular atrophy (SMA) is a severe and clinically-heterogeneous motor neuron disease caused, in most cases, by a homozygous mutation in the SMN1 gene.
Umbertina Conti Reed, Edmar Zanoteli
doaj   +1 more source

Benign monomelic amyotrophy: a study of twenty-one cases Amiotrofia monomélica benigna: estudo de 21 casos

open access: yesArquivos de Neuro-Psiquiatria, 2000
A consecutive series of 21 patients with single limb atrophy (monomelic amyotrophy) is reported. Sixteen had lower limb atrophy and five had upper limb involvement. The median age of the onset was 20 years.
MARCOS R.G. DE FREITAS   +1 more
doaj   +1 more source

Neuromiopatia isquêmica em cinco cães (2008-2016)

open access: yesPesquisa Veterinária Brasileira
RESUMO: O objetivo deste estudo foi apresentar dados epidemiológicos, clínicos e anatomopatológicos de cinco cães com neuromiopatia isquêmica secundária a trombose ou tromboembolismo aórtico.
Angel Ripplinger   +6 more
doaj   +1 more source

Definitions, phenomenology, diagnosis, and management of the disorders of laughter and crying in amyotrophic lateral sclerosis (ALS): Consensus from ALS and Motor Neuron Disease Scientific Department of the Brazilian Academy of Neurology. [PDF]

open access: yesArq Neuropsiquiatr, 2023
Gondim FAA   +11 more
europepmc   +1 more source

Mielomalácia hemorrágica progressiva em 14 cães Progressive hemorrhagic myelomalacia in 14 dogs

open access: yesPesquisa Veterinária Brasileira, 2013
A mielomalácia hemorrágica progressiva (MHP) é uma afecção rara e fatal, em que ocorre necrose aguda isquêmica e progressiva do parênquima da medula espinhal, levando à liquefação da mesma.
Débora de M. Zilio   +1 more
doaj  

LEUCOENCEFALOPATIA MULTIFOCAL PROGRESSIVA ASSOCIADA A QUIMIOTERAPIA PARA LINFOMA DE BURKITT EM PACIENTE VIVENDO COM O HIV: UM RELATO DE CASO

open access: yesHematology, Transfusion and Cell Therapy
Objetivo: Visa demonstrar a associação da quimioterapia ao possível diagnóstico de Leucoencefalopatia Multifocal Progressiva (LEMP) em paciente vivendo com o HIV.
JGM Lusvarghi   +8 more
doaj   +1 more source

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