Results 141 to 150 of about 14,348 (260)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

A case study on the passability of slim dual bend screw drills in high curvature sidetracking through slim boreholes from the Southern Ordos Basin. [PDF]

Sci Rep
Hui Z, Xugang L, Zhanmiao Y, Jiaqin L, Changhao W, Qianwen F, Shuan M, Shaojie L.   +7 more
europepmc   +1 more source

Experimental methods used as a basis for determining maximum allowable concentrations [PDF]

Pure and Applied Chemistry, 1961
openaire   +2 more sources

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Precision Gas Sensing Interface Circuit with Digital Potentiometer-Based Dynamic Gain Control. [PDF]

Sensors (Basel)
Kwon SK, Kim HJ.
europepmc   +1 more source

[M.A.C. (Maximum Allowable Concentration) for powders].

La Medicina del lavoro, 1974
N, Zurlo, M, Patroni
openaire   +1 more source

Peripheral Neutrophil Activation and Extracellular Trap Formation in Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
Markers of neutrophil activation are increased in plasma during ALS, and markers of NET formation associate with ALS survival. ABSTRACT Objectives Peripheral neutrophil levels in amyotrophic lateral sclerosis (ALS) inversely correlate with survival, suggesting a role for neutrophils in disease progression.
Lillia A. Baird, Haley McQuown, Jihyun Park, Samuel J. Teener, Ian F. Webber‐Davis, Andrew D. Carter, Dae‐Gyu Jang, Eva L. Feldman, Stephen A. Goutman, Benjamin J. Murdock   +9 more
wiley   +1 more source

Assessment of the stability of 20 biochemical analytes in serum and whole blood samples after storage at nonstandard temperatures. [PDF]

Pract Lab Med
Iacovetti G, Collier BB, Rafalko JM, Peevler M, Tokunaga N, Ragar J, Brandon WC, Chappell MR, Grant RP, Sommer GJ, Schaff UY.   +10 more
europepmc   +1 more source

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit, Chiranth K. Nagaraj, Jackson S. Newell, Kim Truc Nguyen, Xilal Y. Rima, Jacob Doon‐Ralls, Eduardo Reátegui, Jeffrey M. Statland, Rabi Tawil, Kevin M. Flanigan, Scott Q. Harper, Nizar Y. Saad   +11 more
wiley   +1 more source

The toxicology of orally administered Δ⁹-tetrahydrocannabinol in sheep. [PDF]

Toxicol Rep
Stevens SA, Edwards SH, Noble GK, Scrivener CJ, Petzel CE, May CD, Tai ZX, Blake BL, Dods KC, Warne LN, Krebs GL.   +10 more
europepmc   +1 more source