Results 231 to 240 of about 696,986 (308)

THOI: An efficient and accessible library for computing higher-order interactions enhanced by batch-processing. [PDF]

PLoS One
Belloli L, Mediano PAM, Cofré R, Slezak DF, Herzog R.   +4 more
europepmc   +1 more source

A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley   +1 more source

Protocol for proximity ligation assay combined with immunolabeling of paraffin-embedded lung tissue in a porcine model. [PDF]

STAR Protoc
Bompard A, Regulus R, Cousin A, Salama C, Lejart A, Barbier L, Riccobono D, Favier AL, Nikovics K.   +8 more
europepmc   +1 more source

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

How Spin Conductive are Oligo(p-phenylenes) in Trityl-Based Biradicals. [PDF]

J Am Chem Soc
Kopp KL, Pellegrini A, Grimme S, Schiemann O.   +3 more
europepmc   +1 more source

Subclinical Optic Nerve Involvement in Radiologically Isolated Syndrome: Multimodal Detection and Diagnostic Impact

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We aimed to determine the frequency of subclinical optic nerve (ON) lesions using MRI, optical coherence tomography (OCT), and visual evoked potentials (VEP) in radiologically isolated syndrome (RIS), and to assess their diagnostic and prognostic significance.
Christine Lebrun‐Frenay, Cassandre Landes‐Château, Lydiane Mondot, Mikael Cohen, Margherita Popolo, Jérôme de Seze, Bertrand Bourre, Françoise Durand‐Dubief, Olivier Casez, Orhun H. Kantarci, Aksel Siva, Stephanie Baillif, Darin T. Okuda, Letizia Leocani   +13 more
wiley   +1 more source

AcrIIA8 is a putative phage structural protein of the HTJ2 family that does not inhibit Streptococcus pyogenes Cas9. [PDF]

Protein Sci
An SY, Kim I, Hong SH, Kim EH, Suh JY.
europepmc   +1 more source

Neurochemical Endpoints to Inform Early‐Stage Trials of Spinocerebellar Ataxia 2 and 3 in a Multisite Setting

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers, Yaqiao Wei, Dinesh K. Deelchand, Adam Berrington, Young Woo Park, Guita Banan, Michal Povazan, Jens T. Rosenberg, André J. W. van der Kouwe, Tetsuo Ashizawa, Khalaf O. Bushara, Chiadi U. Onyike, Sub H. Subramony, Jeremy D. Schmahmann, Brian J. Soher, Peter B. Barker, Thomas H. Mareci, Eva‐Maria Ratai, Lynn E. Eberly, Gülin Öz   +19 more
wiley   +1 more source

Mechanical Performance of Basalt Fiber-Reinforced Fully Recycled Concrete Using Triple-Modified Recycled Aggregates. [PDF]

Materials (Basel)
Wang X, Zhou B, Cheng W, Sun Y, Xiao E, He Z.   +5 more
europepmc   +1 more source

Upper Cervical Cord Area as a Biomarker of Conversion to Secondary Progressive Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study assessed whether upper cervical cord area (UCCA) measured on routine brain MRI can serve as a biomarker of conversion to SPMS. Methods This is a single‐center retrospective cohort study of RRMS patients with cross‐sectional and longitudinal analyses of clinical and MRI data. Future SPMS converters were matched by age, sex,
Nabil K. El Ayoubi, Sola Al Ghazal, Salem Hannoun, Medhat A. Siddik, Nour M. Najjar, Jim Dagher, Joseph Abboud, Myriam G. Semaan, Samia J. Khoury   +8 more
wiley   +1 more source