Results 251 to 260 of about 788,099 (311)

The PSSH database of alignments between protein sequences and tertiary structures [PDF]

, 2003
Andrea Schafferhans
openalex   +1 more source

An MRI assessment of mechanisms underlying lesion growth and shrinkage in multiple sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
By applying the tensor model, we analysed lesion orientation and the directionality of lesion expansion/contraction in multiple sclerosis. Each lesion is summarized as an ellipsoid, and the tensor model is applied to calculate lesion anisotropy. From the top to the bottom white matter atlas, surface‐in gradient segmentation and venous atlas used in the
Ermelinda De Meo, Ferran Prados Carrasco, J. William L. Brown, Alasdair J. Coles, Nick G. Cunniffe, Amy E. Jolly, Baris Kanber, Rebecca Samson, Frederik Barkhof, Declan Chard   +9 more
wiley   +1 more source

The development of ant colony optimization to search for optimal alignments of amino-acid sequences of proteins

, 2001
Akihiro Oda, N. Yamaotsu, Seiichiro Hirono   +2 more
openalex   +2 more sources

Amygdala Neurodegeneration: A Key Driver of Visual Dysfunction in Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Visual disability in Parkinson's disease (PD) is not fully explained by retinal neurodegeneration. We aimed to delineate the brain substrate of visual dysfunction in PD and its association with retinal thickness. Methods Forty‐two PD patients and 29 controls underwent 3‐Tesla MRI, retinal spectral‐domain optical coherence tomography,
Asier Erramuzpe, Ane Murueta‐Goyena, Antonio Jimenez‐Marin, Marian Acera, Sara Teijeira‐Portas, Rocío Del Pino, Tamara Fernández‐Valle, Ibai Diez, Unai Sainz‐Lugarezaresti, Naroa Ibarretxe‐Bilbao, Unai Ayala, Maitane Barrenechea, Alberto Cabrera‐Zubizarreta, Jesús Cortés, Juan Carlos Gómez‐Esteban, Iñigo Gabilondo   +15 more
wiley   +1 more source

The art of sequence alignment

, 2014
Sequence similarity: why are we interested in, how do you define it Scoring metrics: what is important in similarity Scoring with DNA: integrating biological knowledge Scoring with proteins: integrating biological knowledge PAMs and BLOSUMs: the marriage of statistics and biology Gaps: how strong do they count?
openaire   +1 more source

Targeted Long‐Read Sequencing as a Single Assay Improves the Diagnosis of Spastic‐Ataxia Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The hereditary spastic‐ataxia spectrum disorders are a group of disabling neurological diseases. The traditional genetic testing pathway is complex, multistep and leaves many cases unsolved. We aim to streamline and improve this process using long‐read sequencing. Methods We developed a targeted long‐read sequencing strategy with the
Laura Ivete Rudaks, Igor Stevanovski, Dennis Yeow, Andre L. M. Reis, Sanjog R. Chintalaphani, Pak Leng Cheong, Hasindu Gamaarachchi, Lisa Worgan, Kate Ahmad, Michael Hayes, Andrew Hannaford, Samuel Kim, Victor S. C. Fung, Gabor M. Halmagyi, Andrew Martin, David Manser, Michel Tchan, Karl Ng, Marina L. Kennerson, Ira W. Deveson, Kishore Raj Kumar   +20 more
wiley   +1 more source

Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing.
Xiaosheng Zheng, Chenxin Ying, Nan Jin, Jinghong Ma, Xinhua Wan, Xunhua Li, Wei Luo   +6 more
wiley   +1 more source

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier, Giulia F. Del Gobbo, Layla Mackay, Erika Wall, Madeline Couse, Laura M. McDonell, Mireille Cloutier, Matt C. Danzi, Jodi Warman‐Chardon, Pierre R. Bourque, Oksana Suchowersky, Alan Mears, Luke Seldenthuis, Wendy Mears, Laura Larrigan, Alexandre White‐Brown, Gerald Pfeffer, Dennis E. Bulman, David Dyment, Care4Rare Canada Consortium, Kym M. Boycott   +20 more
wiley   +1 more source

Early BMI Change, Cognitive Decline, and CSF AD Biomarkers Alterations in Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the relationship of early BMI change with subsequent cognitive decline, CSF AD biomarkers alterations, and progression to dementia in patients with PD. Methods Study data were prospectively collected from the PPMI cohort. Weight/height data at enrollment and second‐year clinical visit were utilized to calculate BMI change.
Rui Zhong, Kezhong Zhang
wiley   +1 more source

Unleashing the Power of Multiomics: Unraveling the Molecular Landscape of Peripheral Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Peripheral neuropathies (PNs) affect over 20 million individuals in the United States, manifesting as a wide range of sensory, motor, and autonomic nerve symptoms. While various conditions such as diabetes, metabolic disorders, trauma, autoimmune disease, and chemotherapy‐induced neurotoxicity have been linked to PN, approximately one‐third of
Julie Choi, Zitian Tang, Wendy Dong, Jenna Ulibarri, Elvisa Mehinovic, Simone Thomas, Ahmet Höke, Sheng Chih Jin   +7 more
wiley   +1 more source