Results 161 to 170 of about 342,935 (312)

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 phylogeny and taxonomic notes on Premna (Lamiaceae) in Thailand. [PDF]

Sci Rep
Satthaphorn J, Paton AJ, Li B, Leeratiwong C.   +3 more
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

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

A Systematic Comparison of Alpha‐Synuclein Seed Amplification Assays for Increasing Reproducibility

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Seed amplification assays (SAAs) enable ultrasensitive detection of misfolded α‐synuclein across biofluids and tissues. Yet, heterogeneity in protocols limits cross‐study comparability and clinical translation. Here, we review α‐synuclein SAA methods and their performance across various biological matrices.
Manuela Amaral‐do‐Nascimento, Daniela F. Santos, Tuane C. R. G. Vieira, Tiago F. Outeiro   +3 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

Assessment of Skin in Patients With Systemic Sclerosis Using High‐Frequency Ultrasound and Shear Wave Elastography: A Comparative Study With Histology, Molecular, and Clinical Parameters

Arthritis Care &Research, EarlyView.
Objective Ultrasound (US) has been proposed as a potential tool for assessing skin fibrosis in systemic sclerosis (SSc). However, a large‐scale comparison of US‐based assessment with histologic markers of skin fibrosis has not been reported. We evaluated US‐based skin assessments for their face validity (differentiation between involved SSc and healthy
Ruhani Desai, Filemon Tan, Minghua Wu, Jeffery L. Browning, Samuel Theodore, Meng Zhang, Brian Skaug, Harshdeep Singh Chawla, Manmohan Singh, Salavat Aglyamov, Kirill V. Larin, Maureen Mayes, Shervin Assassi   +12 more
wiley   +1 more source

Molecular phylogeny of the diatom genus Planothidium with the description of Paraplanothidium gen. nov. and Pseudoplanothidium gen. nov. [PDF]

PLoS One
Tseplik N, Maltsev Y, Glushchenko A, Genkal S, Kulikovskiy M.   +4 more
europepmc   +1 more source

MYCOPHENOLATE MOFETIL TREATMENT REDUCES THE RISK OF TREATMENT ESCALATION DUE TO VASCULAR COMPLICATIONS IN LIMITED CUTANEOUS SYSTEMIC SCLEROSIS: EMULATION OF A TARGET TRIAL FROM ITALIAN RHEUMATOLOGY SOCIETY SPRING REGISTRY

Arthritis Care &Research, Accepted Article.
Objective Mycophenolate Mofetil (MMF) use in limited cutaneous systemic sclerosis (lcSSc) is relatively uncommon due to the lower fibrotic burden and the predominance of the vascular complications. In vitro observations and clinical data from transplanted patients suggest a protective effect of MMF on endothelial function.
Enrico De Lorenzis, Gerlando Natalello, Rossella De Angelis, Lucrezia Verardi, Dilia Giuggioli, Gianluigi Bajocchi, Lorenzo Dagna, Silvia Bellando‐Randone, Giovanni Zanframundo, Rosario Foti, Fabio Cacciapaglia, Giovanna Cuomo, Alarico Ariani, Edoardo Rosato, Gemma Lepri, Francesco Girelli, Valeria Riccieri, Elisabetta Zanatta, Ilaria Cavazzana, Francesca Ingegnoli, Maria De Santis, Giuseppe Murdaca, Giuseppina Abignano, Giorgio Pettiti, Alessandra Della Rossa, Maurizio Caminiti, Annamaria Iuliano, Giovanni Ciano, Lorenzo Beretta, Gianluca Bagnato, Ennio Lubrano, Maria Ilenia De Andres, Alessandro Giollo, Cosimo Bruni, Martina Orlandi, Marco Fornaro, Marta Saracco, Cecilia Agnes, Pier Giacomo Cerasuolo, Gabriella Alonzi, Edoardo Cipolletta, Federica Lumetti, Amelia Spinella, Luca Magnani, Corrado Campochiaro, Giacomo De Luca, Veronica Codullo, Elisa Visalli, Carlo Iandoli, Antonietta Gigante, Greta Pellegrino, Erika Pigatto, Maria‐Grazia Lazzaroni, Franco Franceschini, Elena Generali, Gianna Mennillo, Simone Barsotti, Giuseppa Pagano Mariano, Federica Furini, Licia Vultaggio, Simone Parisi, Clara Lisa Peroni, Gerolamo Bianchi, Enrico Fusaro, Gian Domenico Sebastiani, Marcello Govoni, Salvatore D'Angelo, Franco Cozzi, Fabrizio Conti, Serena Guiducci, Andrea Doria, Carlo Salvarani, Florenzo Iannone, Maria Antonietta D'Agostino, Clodoveo Ferri, Marco Matucci Cerinic, Silvia Laura Bosello, on behalf of SPRING collaborators   +77 more
wiley   +1 more source

Molecular phylogeny and morphology reveal two novel entomopathogenic species of Hypocreales (Polycephalomycetaceae and Cordycipitaceae), from China. [PDF]

MycoKeys
Dong QY, Zeng NK, Zhou JN, Gao SY, Xu CD, Wang ZJ.   +5 more
europepmc   +1 more source