Results 61 to 70 of about 5,061 (184)

Physiotherapy in Spinocerebellar Ataxia Following COVID‐19: A Biomechanical and Biopsychosocial Case Report

Physiotherapy Research International, Volume 31, Issue 1, January 2026.
ABSTRACT Background and Purpose Spinocerebellar ataxia (SCA) is a progressive neurodegenerative disorder characterized by impaired postural control, coordination deficits, and functional limitations. Despite evidence supporting physiotherapy interventions, standardized rehabilitation protocols remain scarce.
Luiz Humberto Figueiredo Monteiro, Isabela Natalia de Souza Rêgo, Ana Beatriz Souza da Conceição, Hugo Miranda de Souza Coroa, Brenno Ribeiro Braz, Suellen Alessandra Soares de Moraes   +5 more
wiley   +1 more source

Ataxin-3 and its E3 partners: Implications for Machado-Joseph disease

Frontiers in Neurology, 2013
Machado-Joseph disease (MJD) is the most common dominant inherited ataxia worldwide, caused by an unstable CAG trinucleotide expansion mutation within the SCA3 gene resulting in an expanded polyglutamine tract within the ataxin-3 protein.
Thomas M Durcan, Edward A Fon
doaj   +1 more source

Nystagmus may be the first neurological sign in early stages of spinocerebellar ataxia type 3

Arquivos de Neuro-Psiquiatria, 2021
Background: Spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant spinocerebellar ataxia worldwide. Almost all patients with SCA3 exhibit nystagmus and/or saccades impairment.
Maria Thereza Drumond Gama, Flávio Moura Rezende Filho, Thiago Junqueira Ribeiro Rezende, Pedro Braga Neto, Marcondes Cavalcante França Junior, José Luiz Pedroso, Orlando Graziani Povoas Barsottini   +6 more
doaj   +1 more source

Generation of an induced pluripotent stem cell line from a patient with spinocerebellar ataxia type 3 (SCA3): HIHCNi002-A

Stem Cell Research, 2018
A skin biopsy of a patient with spinocerebellar ataxia type 3 (SCA3, also known as Machado-Joseph disease (MJD)) caused by a CAG trinucleotide repeat expansion in the ATXN3 gene, was used to generate an induced pluripotent stem cell line, HIHCNi002-A ...
Stefanie Nicole Hayer, Yvonne Schelling, Jeannette Huebener-Schmid, Jonasz Jeremiasz Weber, Stefan Hauser, Ludger Schöls   +5 more
doaj   +1 more source

Muscle Excitability Abnormalities in Machado-Joseph Disease [PDF]

Archives of Neurology, 2008
To estimate the frequency of and to characterize muscle excitability abnormalities in Machado-Joseph disease (MJD).Machado-Joseph disease is a common autosomal dominant cerebellar ataxia caused by an unstable CAG trinucleotide repeat expansion. Muscle cramps and fasciculations are frequent and sometimes disabling manifestations.
Marcondes C, França, Anelyssa, D'Abreu, Anamarli, Nucci, Iscia, Lopes-Cendes   +3 more
openaire   +2 more sources

Machine Learning Approach for Predicting Amyloid and Tau Positivity in Alzheimer's Disease Using Clinically Accessible Features

Alzheimer's &Dementia, Volume 21, Issue S2, December 2025.
Abstract Background Prediction of Alzheimer's disease (AD) biomarkers can improve public health strategies, especially if achieved with easily collectable data in a single consultation. Machine learning (ML) offers versatile tools for clinical and research applications.
Daniel Arnold, Luiza Santos Machado, Nesrine Rahmouni, Joseph Therriault, Stijn Servaes, Jenna Stevenson, Arthur C. Macedo, Artur Francisco Schumacher‐Schuh, Christian Mattjie, Firoza Z Lussier, Mira Chamoun, Gleb Bezgin, Andrea L. Benedet, Tharick A Pascoal, Rodrigo C. Barros, Marco De Bastiani, Pedro Rosa‐Neto, Eduardo R. Zimmer, Wyllians Vendramini Borelli, Alzheimer's Disease Neuroimaging Initiative   +19 more
wiley   +1 more source

Brain stem and cerebellum volumetric analysis of Machado Joseph disease patients

Arquivos de Neuro-Psiquiatria, 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
S T Camargos, W Marques-Jr, A C Santos
doaj   +1 more source

A família Drew de Walworth: um século após a avaliação inicial finalmente o diagnóstico doença de Machado-Joseph The Drew family of Walworth: one century from the first evaluation until the final diagnosis, Machado-Joseph disease

Arquivos de Neuro-Psiquiatria, 2004
As enfermidades heredo-degenerativas, entre elas as ataxias cerebelares autossômicas dominantes, agora conhecidas como ataxias espinocerebelares (AEC), correspondem a extenso grupo de s com grande heterogeneidade genética.
Hélio A. Ghizoni Teive, Walter Oleschko Arruda   +1 more
doaj   +1 more source

Human interparietal bones: Examination of existing classification schemes and development of a graphic library depicting variations

The Anatomical Record, Volume 308, Issue 12, Page 3186-3196, December 2025.
Examples from the graphic library depicting morphologies of interparietal bones, ossicles at lambda, mendosal sutures, and intrasutural ossicles. Abstract Due to its complex ossification during development, the superior region of the human occipital bone is a frequent site of supernumerary bones known as interparietal bones.
Melissa D. Clarkson, Rhian R. Dunn, Joseph T. Hefner, Holly A. Long, Micayla C. Spiros   +4 more
wiley   +1 more source

The Economics of Liver Fibrosis Diagnosis: Systematic Review of Non‐Invasive Test Cost‐Effectiveness

Liver International Communications, Volume 6, Issue 4, December 2025.
ABSTRACT Hepatic diseases progress silently, leading to fibrosis, cirrhosis, and hepatocellular carcinoma. Although liver biopsy remains the gold standard for fibrosis assessment, it is limited by invasiveness and sampling variability. Non‐invasive liver tests (NILTs) can mitigate biopsy‐related risks.
Marilia Mastrocolla de Almeida Cardoso, Fernando Gomes Romeiro, Wendel Mombaque dos Santos, Juliana Machado‐Rugolo, Juliana Tereza Coneglian de Almeida, Lehana Thabane, Kednapa Thavorn, Jean‐Eric Tarride   +7 more
wiley   +1 more source