Results 61 to 70 of about 17,057 (211)

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
Lopes-Cendes, Iscia, Odile Russaouen, Cécile Cazeneuve, Cazeneuve, Cécile, Walker R.H., Russaouen O., Bader B., Guilherme Riccioppo Rodrigues, Brice A., Russaouen, Odile, Tumas, Vitor, Wilson Marques Jr., Rodrigues G.R., Iscia Lopes-Cendes, Danek, Adrian, Adrian Danek, MARQUES JR., Wilson, Brice, Alexis, Marques Jr. W., Marques, Wilson, Vitor Tumas, Walker, Ruth H., Bader, Benedikt, Benedikt Bader, Danek A., Cazeneuve C., Ruth H. Walker, Riccioppo Rodrigues, Guilherme, RODRIGUES, Guilherme Riccioppo, Alexis Brice, Tumas V., Lopes-Cendes I.   +31 more
core   +1 more source

Microsatellite Stability in STR Analysis Aspergillus fumigatus Depends on Number of Repeat Units

Frontiers in Cellular and Infection Microbiology, 2019
More than a decade ago a short tandem repeat-based typing method was developed for the fungus Aspergillus fumigatus. This STRAf assay is based on the analysis of nine short tandem repeat markers.
Theun de Groot, Jacques F. Meis, Jacques F. Meis, Jacques F. Meis   +3 more
doaj   +1 more source

Variant‐Specific Landscape of Mutual Exclusivity Among BRAF, EGFR, and KRAS Oncogenes Reveals Overlap With Functionally Antagonistic Mutant Pairs

International Journal of Cancer, EarlyView.
Mutual exclusivity and co‐occurrence of oncogenic mutations reflect functional antagonism or dependence and may inform therapeutic strategies. However, most studies overlook variant‐level patterns. In this comprehensive, cross‐cohort analysis of BRAF, KRAS, and EGFR mutation subtypes, the most significant mutual exclusivity pairs overlapped with ...
Freya Vaeyens, Jan‐Patrick Hetzel, Khaldoon Abdullah, Carolien Eggermont, Catharina Olsen, Marco Mernberger, Ken Maes, Jelle Vlaeminck, Rainer Claus, Dries Vanisterbecq, Frederik Hes, Martin Pichler, Philippe Giron, Oleg Timofeev, Maxim Noeparast   +14 more
wiley   +1 more source

FXTAS and the Spectrum of FMR1 Premutation‐Associated Phenotypes in Latin America: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder caused by FMR1 premutation expansions (55–200 CGG repeats). Although well described in populations of predominantly European ancestry, FXTAS remains poorly characterized in Latin America due to limited awareness, restricted access to ...
Amy Schmidmajer, Salomón Páez‐García, Santiago Martínez, Jacobo Ramírez‐Triana, Kevin O'Hara‐Veintimilla, Andrés Ricaurte‐Fajardo, Catalina Cerquera‐Cleves   +6 more
wiley   +1 more source

Optical mapping reveals a higher level of large‐scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease

The Journal of Pathology, EarlyView.
Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan, Jenna Craddock, Tingting Gong, Ruth J Lyons, Igor Stevanovski, Sanjog R Chintalaphani, Ira W Deveson, Weerachai Jaratlerdsiri, Kishore R Kumar, Vanessa M Hayes   +9 more
wiley   +1 more source

Cognition in Trinucleotide Repeat Spinocerebellar Ataxias

Annals of Indian Academy of Neurology, 2022
Spinocerebellar ataxias (SCAs) comprise a group of complex and heterogeneous hereditary neurodegenerative disorders characterized by cerebellar ataxia, with ophthalmoplegia, pyramidal and extrapyramidal features, peripheral neuropathy, motor neuron disease, pigmentary retinopathy, epilepsy, and dementia in ...
Ayush Agarwal, Pankaj, Mohd Faruq, Ajay Garg, Achal K Srivastava   +4 more
openaire   +3 more sources

The Neuroprotective Effect of a Waste Byproduct Obtained From Pomegranate (Punica granatum)

Phytotherapy Research, EarlyView.
The Effect of a Waste Byproduct Obtained From Pomegranate on Neurodegeneration. ABSTRACT Pomegranate is an exceptional fruit that can have several beneficial effects on human health. The peel of pomegranate, a waste product, should be recovered as it still contains valuable constituents, including phenolic compounds, minerals and fibre. The recovery of
Jessica Maiuolo, Valeria Mazza, Rosamaria Caminiti, Francesca Oppedisano, Saverio Nucera, Salvatore Ragusa, Sara Ilari, Lucia Carmela Passacatini, Luigi Tucci, Giuseppe Trunfio, Vincenzo Mollace, Carolina Muscoli   +11 more
wiley   +1 more source

G-quadruplex formation using fluorescent oligonucleotides as a detection method for discriminating AGG trinucleotide repeats [PDF]

, 2018
We have developed a simple and sensitive system for detecting AGG trinucleotide repeats through the formation of intermolecular G-quadruplexes using a fluorescent oligonucleotide.
Kim, KT, Park, Y, Kim, BH
core   +1 more source

Clinical‐Grade Human Induced Pluripotent Stem Cell‐Derived Neural Precursor Cells Restore Motor Function and Preserve Striatal Integrity in a Quinolinic Acid‐Lesioned Rat Model of Huntington's Disease

Cell Proliferation, EarlyView.
Clinical‐grade HLA‐homozygous iPSC‐derived neural precursor cells restore motor function, rebuild striatal circuitry and reduce neuroinflammation in QA‐lesioned rats. These findings demonstrate robust neuronal replacement and microenvironment modulation, supporting their potential as a regenerative therapy for Huntington's disease.
Hyeonjoong Jeon, Il‐Shin Lee, Sanghun Lee, Hyo Chang Park, Beomsoo Kim, Hyun Sook Kim, Jihwan Song   +6 more
wiley   +1 more source

Data mining revealed no other trinucleotide repeat expansion associated with the Huntington's disease biomarker (CAG)

Clinical Parkinsonism & Related Disorders
The CAG trinucleotide repeat expansion is believed to be the only expansion associated with Huntington's Disease and other phenotypically similar genetic diseases.
Omar Alaqeeli
doaj   +1 more source