Results 221 to 230 of about 486,356 (308)

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Establishment of an inducible knockout model for the chicken Z-chromosome-linked gene DMRT1. [PDF]

Poult Sci
Liu G, Cao Z, He Y, Zhu X, Ali MA, Sun H, Zuo Q, Niu Y, Song J, Han W, Wei W, Chen G, Li B, Jin K.   +13 more
europepmc   +1 more source

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

Immunoinformatics-based design of artificial chimeric proteins as universal vaccine candidates against foot-and-mouth disease virus serotypes A, O, and SAT2. [PDF]

Sci Rep
Elrashedy A, Nayel M, Salama A, Zaghawa A, Hasan ME.   +4 more
europepmc   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Enhancement of RecET-mediated in vivo linear DNA assembly by a xonA mutation. [PDF]

PLoS One
Sawitzke JA, Costantino N, Caballero AC, Hutchinson E, Barenghi A, Thomason LC, Court DL.   +6 more
europepmc   +1 more source

Histopathological Evidence of Neurodegenerative Pathology in Epilepsy: A Systematic Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Epilepsy affects > 50 million people worldwide and is associated with a disproportionate burden of cognitive impairment. Emerging evidence suggests that neurodegenerative proteinopathies, particularly hyperphosphorylated tau (p‐tau) and amyloid‐β (Aβ), may contribute to cognitive dysfunction in people with epilepsy (PWE), even in the absence ...
Syeda Amrah Hashmi, Aleksander Luniewski, Vanessa Smith, Matthew McCord, Jaideep Kapur, Mark Quigg, Catherine Joshua, Ifrah Zawar   +7 more
wiley   +1 more source

Cloning, expression and characterisation of short-chain dehydrogenase/reductase SDR12 (A0A7I5E7J1) from a parasitic nematode Haemonchus contortus. [PDF]

Sci Rep
Rychlá N, Navrátilová M, Kohoutová E, Raisová Stuchlíková L, Szotáková B, Skálová L, Matoušková P.   +6 more
europepmc   +1 more source

Implantable Ionic Memristors Based on Natural Polymer Heterojunctions

Advanced Functional Materials, EarlyView.
We report an implantable natural polymer‐based ionic memristor composed of hyaluronic acid, chitosan, and PDMS. The device achieved 98.94% accuracy in MNIST classification while reducing training time by 36.8% compared with a conventional artificial neural network (ANN).
Dong‐yup Lee, Byung Ik Park, Gihyeon Yim, Hyunjae Yoo, Sangjun Ma, Jundong Park, Jeong‐Yun Sun   +6 more
wiley   +1 more source

Protocol for enhancing CRISPR-Cas9 genome editing using histone deacetylase inhibition and engineered virus-like particle delivery. [PDF]

STAR Protoc
Djamshidi M, Tanida R, Heshmatzad K, Krowicki H, Hill A, Yang Y, Riabowol K.   +6 more
europepmc   +1 more source