Results 71 to 80 of about 26,249 (178)

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
A multidisciplinary strategy that integrates deep phenotyping with expert genetic interpretation substantially increases the likelihood of reaching a diagnosis in adults suspected of having an IMD. ABSTRACT Inherited metabolic disorders (IMDs) arise from defects in metabolic pathways essential for normal biochemical function.
Machteld M. Oud, Elise A. Ferreira, Clara D. M. van Karnebeek, Robin Wijngaard, Nicole I. Wolf, Marc Engelen, Mareen Datema, Sacha Ferdinandusse, André B. P. van Kuilenburg, Laura Steinbusch, Saskia N. van der Crabben, Mirjam Langeveld, on behalf of the ZOEMBA Study Group   +12 more
wiley   +1 more source

Technologies for engineering repetitive DNA

Quantitative Biology, Volume 14, Issue 3, September 2026.
Abstract Repetitive DNA, a fundamental architectural element of genomes, is widespread across organisms and comprises about 54% of the human genome. With advances in long‐read sequencing and bioinformatics approaches, highly repetitive sequences can now be characterized in depth.
Shuting Ma, Yali Cui, Yi Wu
wiley   +1 more source

The DNA/RNA autophagy protein SIDT2 as a novel neuropathological hallmark in Huntington disease

Brain Pathology, Volume 36, Issue 5, September 2026.
SIDT2‐immunoreactive inclusions are observed in the striatum, cerebral cortex, and hypothalamus in HD cases with different Vonsattel grades, and the frequency of SIDT2‐immunoreactive inclusions is associated with longer CAG repeats in the huntingtin gene.
Sanaz Gabery, Sofia Bergh, Chrisovalantou Huridou, Rachel Y. Cheong, Barbara Baldo, Paul Günther Scheunemann, Marie‐Louisa Schoebel, Linda Holmquist Mengelbier, Elisabet Englund, Catriona McLean, Carsten Saft, Deniz Kirik, Maria Björkqvist, Glenda Halliday, Elisabeth Petrasch‐Parwez, Huu Phuc Nguyen, Jonasz Jeremiasz Weber, Åsa Petersén   +17 more
wiley   +1 more source

Machado-Joseph Disease, A Case Report of Treatment Based on Phototherapy

Caucasian Medical Journal
Machado-Joseph disease (MJD) is a rare autosomal dominant disease caused by a mutation in exon 10 of the ATXN3 gene resulting from a cytosine-adenine-guanine trinucleotide repeat. A case of a 48-year-old man with MJD is reported. His father, two paternal
Hugo Mendieta Zerón, David Emmanuel González Mendoza, Pamela Lagos Robles, Miriam Deyanira Rodriguez Piña   +3 more
doaj   +1 more source

Astrocytes in Genetic Epilepsies: Supporting Actor or Key Player?

Journal of Neuroscience Research, Volume 104, Issue 8, August 2026.
Astrocytes contribute to the pathophysiology of acquired epilepsy. However, less is known about their contribution to genetic epilepsy syndromes which often exhibit frequent comorbidity with neurodevelopmental and psychiatric disorders. Epileptic seizures are also frequently present in neurodevelopmental disorders.
Jenny Lange, Erica Zhao, Ellie O'Connell, Olivia Gillham, Amy McTague   +4 more
wiley   +1 more source

Dysphagia in spinocerebellar ataxias type 1, 2, 3 and 6

Journal of the Neurological Sciences, 2020
Dysphagia is a common symptom and may be a cause of death in patients with spinocerebellar ataxias (SCAs). However, little is known about at which disease stage dysphagia becomes clinically relevant. Therefore, our study aims to investigate the prevalence of dysphagia in different disease stages of SCA 1, 2, 3 and 6.We studied 237 genetically confirmed
Yang, Chen-Ya, Lai, Ruo-Yah, Amokrane, Nadia, Lin, Chi-Ying, Figueroa, Karla, Pulst, Stefan, Perlman, Susan, Wilmot, George, Gomez, Christopher, Schmahmann, Jeremy, Paulson, Henry, Shakkottai, Vikram, Rosenthal, Liana, Ying, Sarah, Zesiewicz, Theresa, Bushara, Khalaf, Geschwind, Michael, Xia, Guangbin, Subramony, S, Ashizawa, Tetsuo, Troche, Michelle, Kuo, Sheng-Han   +21 more
openaire   +4 more sources

Dietary Titanium Dioxide (E171) Alters the Colon Transcriptome—Evidence From a Human Dietary Intervention Study

Molecular Nutrition &Food Research, Volume 70, Issue 16, 27 August 2026.
Oral E171 exposure (2 mg/kg body weight/day) in a randomized cross‐over study of 31 healthy adults increased fecal titanium and blood superoxide while altering the colon transcriptome and enriching 73 pathways linked to oxidative stress, metabolism, and colorectal cancer.
Nicolaj S. Bischoff, Anna K. Undas, Greet van Bemmel, Marcel van Herwijnen, Marcha Verheijen, Simone G. Van Breda, Jacco J. Briedé, Lana Drenth‐Brink, Marcella Peelen‐Buijs, Iris Elferink, Héloïse Proquin, Henk van Loveren, Ad A. van Bodegraven, Dick T. H. M. Sijm, Theo M. de Kok   +14 more
wiley   +1 more source

Impaired Efficiency and Resilience of Structural Network in Spinocerebellar Ataxia Type 3

Frontiers in Neuroscience, 2018
Background: Recent studies have shown that the patients with spinocerebellar ataxia type 3 (SCA3) may not only have disease involvement in the cerebellum and brainstem but also in the cerebral regions.
Yu-Te Wu, Yu-Te Wu, Shang-Ran Huang, Chi-Wen Jao, Bing-Wen Soong, Bing-Wen Soong, Jiing-Feng Lirng, Jiing-Feng Lirng, Hsiu-Mei Wu, Hsiu-Mei Wu, Po-Shan Wang, Po-Shan Wang   +11 more
doaj   +1 more source

Occupational therapy in spinocerebellar ataxia type 3: an open-label trial

Brazilian Journal of Medical and Biological Research, 2010
Occupational therapy (OT) is a profession concerned with promoting health and well-being through occupation, by enabling handicapped people to participate in the activities of everyday life.
R.C.R. Silva, J.A.M. Saute, A.C.F. Silva, A.C.O. Coutinho, M.L. Saraiva-Pereira, L.B. Jardim   +5 more
doaj  

Retinal Manifestations in Spinocerebellar Ataxia Type 3

Journal of Neuro-Ophthalmology, 2022
Sarah Chorfi, Emily M. Place, Robert M. Mallery, Rachel M. Huckfeldt   +3 more
openaire   +2 more sources