Results 61 to 70 of about 435,882 (385)

PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism. [PDF]

, 2006
We analyzed the PINK1 gene in 58 patients with early-onset Parkinsonism and detected the homozygous mutation W437X in 1 patient. The clinical phenotype was characterized by early onset (22 years of age), good re- sponse to levodopa, early fluctuations ...
CRISCUOLO C, DALLAPICCOLA B, DE MICHELE, GIUSEPPE, DE ROSA, ANNA, FILLA, ALESSANDRO, MANCINI P, MARONGIU R, SALVATORE, ELENA, VALENTE EM, VARRONE A, VOLPE G   +10 more
core  

Everyday walking with Parkinson's disease: understanding personal challenges and strategies [PDF]

, 2008
PURPOSE: This qualitative study was designed to explore the personal experience of everyday walking with Parkinson's disease (PD), the challenges and the strategies employed to compensate for difficulties, to help contextualise the scientific knowledge ...
Birleson, Angela, Hetherington, Victoria, Jones, Diana, Kwakkel, Gert, Nieuwboer, Alice, Rochester, Lynn, van Wegen, Erwin, Willems, Anne-Marie   +7 more
core   +2 more sources

Free-water imaging in Parkinson's disease and atypical parkinsonism.

Brain : a journal of neurology, 2016
Conventional single tensor diffusion analysis models have provided mixed findings in the substantia nigra of Parkinson's disease, but recent work using a bi-tensor analysis model has shown more promising results.
P. J. Planetta, Edward Ofori, O. Pasternak, R. Burciu, Priyank Shukla, J. DeSimone, M. Okun, Nikolaus R. McFarland, D. Vaillancourt   +8 more
semanticscholar   +1 more source

Aβ42 promotes the aggregation of α‐synuclein splice isoforms via heterogeneous nucleation

FEBS Letters, EarlyView.
The aggregation of amyloid‐β (Aβ) and α‐synuclein (αSyn) is associated with Alzheimer's and Parkinson's diseases. This study reveals that Aβ aggregates serve as potent nucleation sites for the aggregation of αSyn and its splice isoforms, shedding light on the intricate interplay between these two pathogenic proteins.
Alexander Röntgen, Zenon Toprakcioglu, Michele Vendruscolo   +2 more
wiley   +1 more source

Manganese-Induced Parkinsonism and Parkinson’s Disease: Shared and Distinguishable Features

International Journal of Environmental Research and Public Health, 2015
Manganese (Mn) is an essential trace element necessary for physiological processes that support development, growth and neuronal function. Secondary to elevated exposure or decreased excretion, Mn accumulates in the basal ganglia region of the brain and ...
Gunnar F. Kwakye, M. Paoliello, Somshuvra Mukhopadhyay, A. Bowman, M. Aschner   +4 more
semanticscholar   +1 more source

Long non‐coding RNAs as therapeutic targets in head and neck squamous cell carcinoma and clinical application

FEBS Open Bio, EarlyView.
Long non‐coding RNAs (lncRNAs) occupy an abundant fraction of the eukaryotic transcriptome and an emerging area in cancer research. Regulation by lncRNAs is based on their subcellular localization in HNSCC. This cartoon shows the various functions of lncRNAs in HNSCC discussed in this review.
Ellen T. Tran, Ruchi A. Patel, Amogh Chariyamane, Ratna B. Ray   +3 more
wiley   +1 more source

Earthing effects on mitochondrial function: ATP production and ROS generation

FEBS Open Bio, EarlyView.
In contrast to sham and naive controls, grounded mitochondria not only exhibit significantly enhanced energy production but also demonstrate a remarkable reduction in membrane potential and oxidative stress. This suggests a profound improvement in mitochondrial health, presenting a promising avenue for therapeutic interventions.
Cecilia Giulivi, Richard Kotz
wiley   +1 more source

Disease modifying therapy for multiple system atrophy – Parkinsonian Type [PDF]

, 2017
BACKGROUND: Multiple System Atrophy –Parkinsonian Type (MSA-P) is a rare, rapidly progressive neurodegenerative disease without any current treatment.
Dwyer, Sean Sullivan
core  

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

Muscle biopsy: A boon for diagnosis of mitochondrial parkinsonism in developing countries

Annals of Indian Academy of Neurology, 2019
Mitochondrial dysfunction plays an important role in the pathogenesis of Parkinson's disease. Primary genetic abnormalities in the mitochondrial DNA or nuclear DNA can cause parkinsonism.
Ritu Shree, Sahil Mehta, Manoj K Goyal, Balan L Gaspar, Vivek Lal   +4 more
doaj   +1 more source