Results 231 to 240 of about 856,388 (330)

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Two novel AXIN2 variants in isolated tooth agenesis and the AXIN2-associated tooth agenesis pattern. [PDF]

BMC Oral Health
Geng C, Lin B, Liu Y, Sun K, Yu M, Liu H, Feng H, Han D.   +7 more
europepmc   +1 more source

Frustrated Lewis pairs in ionic liquids and molecular solvents – a neutron scattering and NMR study of encounter complexes

, 2018
Lucy C. Brown, James M. Hogg, Mark Gilmore, Leila Moura, Silvia Imberti, Sabrina Gärtner, H. Q. Nimal Gunaratne, Ruairi O’Donnell, Nancy Artioli, John D. Holbrey, Małgorzata Swadźba‐Kwaśny   +10 more
openalex   +2 more sources

Relapsing–Remitting Multiple Sclerosis Is Associated With a Dysbiotic Oral Microbiome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Multiple sclerosis (MS) is a chronic autoimmune disorder characterized by inflammation, demyelination, and neurological impairment. While the gut microbiota's role in MS is extensively studied, the association between the oral microbiota and MS remains underexplored, particularly in North American cohorts.
Sukirth M. Ganesan, Meeta Yadav, Sudeep Ghimire, Peter C. Lehman, Apurva J. Patel, Sydney Woods, Heena Olalde, Jemmie Hoang, Mishelle Paullus, Catherine Cherwin, Christine Gill, Tracey Cho, Ashutosh K. Mangalam   +12 more
wiley   +1 more source

Considering the effects of pair formation dynamics on mpox and HIV co-infection in the gbMSM community. [PDF]

Sci Rep
Machado-Marques S, Romero-Leiton JP, Nasri B, Moyles IR.   +3 more
europepmc   +1 more source

Pairing interactions between nucleobases and ligands in aptamer:ligand complexes of riboswitches: crystal structure analysis, classification, optimal structures, and accurate interaction energies [PDF]

, 2019
Preethi Seelam Prabhakar, Abhijit Mitra, Purshotam Sharma   +2 more
openalex   +1 more source

The MMP‐9/TIMP‐1 Ratio and Concentrations of Osteopontin Are Elevated in Cerebrospinal Fluid of People With Multiple Sclerosis and Decrease After Autologous Hematopoietic Stem Cell Transplantation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To evaluate the utility of cerebrospinal fluid (CSF) biomarkers—matrix metalloproteinase‐9 (MMP‐9), tissue inhibitor of metalloproteinases‐1 (TIMP‐1), the MMP‐9/TIMP‐1 ratio, and osteopontin (OPN)—as indicators of blood–brain barrier (BBB) integrity and disease activity in people with relapsing–remitting multiple sclerosis (pwMS ...
Ivan Pavlovic, Ida Erngren, Kim Kultima, Anders Larsson, Malin Müller, Anna Wiberg, Joachim Burman   +6 more
wiley   +1 more source

Topological nodal i-wave superconductivity in PtBi₂. [PDF]

Nature
Changdar S, Suvorov O, Kuibarov A, Thirupathaiah S, Shipunov G, Aswartham S, Wurmehl S, Kovalchuk I, Koepernik K, Timm C, Büchner B, Fulga IC, Borisenko S, van den Brink J.   +13 more
europepmc   +1 more source

Excitonic Interactions in Bacteriochlorin Homo-Dyads Enable Charge Transfer: A New Approach to the Artificial Photosynthetic Special Pair

, 2018
Christopher McCleese, Zhanqian Yu, Nopondo N. Esemoto, Charles Kolodziej, Buddhadev Maiti, Srijana Bhandari, Barry D. Dunietz, Clemens Burda, Marcin Ptaszek   +8 more
openalex   +2 more sources

A harmful pairing [PDF]

Nature Immunology, 2018
openaire   +2 more sources