Results 241 to 250 of about 5,972,156 (311)

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez, Amy Tam, Siofra Carty, Monica Ferrer Socorro, Kathryn Yang, Darius Ebrahimi‐Fakhari   +5 more
wiley   +1 more source

R3DCID: circular interaction diagrams for RNA and DNA 3D structures of all sizes. [PDF]

RNA
Fonga PN, Abubaker SM, Thaman J, Zirbel CL.   +3 more
europepmc   +1 more source

The Gut–Heart Axis in Systemic Sclerosis: Evidence From a Large Prospective Early Disease Cohort

Arthritis Care &Research, EarlyView.
Objective Cardiac involvement significantly impacts prognosis in systemic sclerosis (SSc), highlighting the need for early risk stratification. Gastrointestinal (GI) symptoms are common and often manifest early. Emerging data suggest a link between GI and cardiac manifestations, possibly through shared mechanisms like dysautonomia.
Francesca R. Di Ciommo, Ashish P. Balar, Aidan K. Strother, Subhash Kulkarni, Michael Hughes, Brian Skaug, Maureen D. Mayes, Shervin Assassi, Ali Y. Ayla, Zsuzsanna H. McMahan   +9 more
wiley   +1 more source

Costs and benefits of Supply Chain Finance solutions: is it always worth it? [PDF]

, 2018
A. Moretto, F. Caniato, BONZANI, AGOSTINO   +2 more
core  

PDBe-SIFTS: An open-source tool for Structure Integration with Function, Taxonomy, and Sequences, featuring improved alignment, scoring scheme, and accelerated search. [PDF]

Protein Sci
Bellaiche A, Choudhary P, Nair S, Harrus D, Yu CW, Tanweer SA, Evans GL, Lo SW, Martin MJ, Fleming JR, Velankar S.   +10 more
europepmc   +1 more source

Structural Hierarchy and Maturation of Amyloid Fibrils Revealed by Interface Descriptor Analysis. [PDF]

J Chem Inf Model
Sulyok-Eiler M, Harmat V, Perczel A.
europepmc   +1 more source

AI-Predicted Model-Guided Rebuilding of the Experimental Structure of Mouse δ-Aminolevulinic Acid Dehydratase. [PDF]

Int J Mol Sci
Nam KH.
europepmc   +1 more source

Tunable p-p Interactions Along Linear Chains Control Metavalent Bonding in Chalcogenide Heterostructures. [PDF]

Adv Sci (Weinh)
Verma S, Biswas K, Waghmare UV, Rao CNR.
europepmc   +1 more source