Results 181 to 190 of about 194,490 (314)

Collagen fingerprinting and sequence analysis provides a molecular phylogeny of extinct Australian megafauna. [PDF]

Proc Biol Sci
Buckley M, Mitchell KJ, Arnold LJ, Reed EH, Eberhard R.   +4 more
europepmc   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Morphology and molecular phylogeny of two freshwater ciliates, with notes on a new species and redescription of a known species (Ciliophora, Oligohymenophorea). [PDF]

BMC Microbiol
Song Y, Zhao J, Pu K, Yin Q, Pan M, Pan X.   +5 more
europepmc   +1 more source

A Prospective Study of Individuals at Risk of Multiple Sclerosis Informs the Design of Primary Prevention Studies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.
Amy W. Laitinen, Ceren Tozlu, Tina Roostaei, Fatoumata Diallo, Kaho Onomichi, Jiyeon Son, Zongqi Xia, Philip L. De Jager   +7 more
wiley   +1 more source

Accounting for molecular stochasticity in systematic revisions: species limits and phylogeny of Paroaria

, 2009
Different frameworks have been proposed for using molecular data in systematic revisions, but there is ongoing debate on their applicability, merits and shortcomings.
Liliana M. Dávalos, Ana L. Porzecanski   +1 more
core  

A Molecular Phylogeny of the Nightjar Louse Fly Pseudolynchia garzettae (Rondani, 1979) (Diptera: Hippoboscidae) with a Diagnostic Morphological Description of a Sequenced Specimen. [PDF]

Acta Parasitol
Wawman DC, Fiddaman SR, Bailey AS, Smith AL.   +3 more
europepmc   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Molecular approaches to the study of ecdysozoan evolution

, 2010
The Ecdysozoa is a large clade of animals comprising the vast majority of living species and some of the most studied invertebrate models, including fruitflies and nematodes.
Rota Stabelli, O.
core  

Morphology and molecular phylogeny reveal new species of <i>Sporocadus</i> (<i>Sporocadaceae</i>, <i>Amphisphaeriales</i>) in Xizang, China. [PDF]

MycoKeys
Li Z, Tian C, Jiang N.
europepmc   +1 more source

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source