Results 171 to 180 of about 1,187,054 (342)

Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot–Marie–Tooth Disease

Annals of Neurology, EarlyView.
Objective Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of genetic neuropathies, with >90 genes identified. Several aminoacyl‐tRNA synthetases have been linked to CMT. DARS2, encoding the mitochondrial aspartyl‐tRNA synthetase, has been typically associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate ...
Berta Estévez‐Arias, Siiri Sarv, Nathalie Bonello‐Palot, Laura Carrera‐García, Carlos Ortez, Jesica Expósito‐Escudero, Delia Yubero, Jordi Muchart, Emilien Delmont, Eve Õiglane‐Shlik, Teele Meren, Sanna Puusepp, Ülle Murumets, Gajja S. Salomons, Bjarne Udd, Liis Väli, Lara Cantarero, Carsten G. Bönnemann, Andrés Nascimento, Santiago Ramón‐Maiques, Katrin Õunap, Janet Hoenicka, Daniel Natera‐de Benito, Francesc Palau   +23 more
wiley   +1 more source

Hypoxemia in Young Asymptomatic Cigarette Smokers

, 1967
Denise J. Strieder, Homayoun Kazemi
openalex   +1 more source

Electrocardiographic changes resembling myocardial ischaemia in asymptomatic men with normal coronary arteriograms. [PDF]

, 1979
Peter Taggart, Malcolm Carruthers, S P Joseph, Hanna Kelly, J Marcomichelakis, Denis Noble, Gearoid O’Neill, W Somerville   +7 more
openalex   +1 more source

Trametinib in Adults with Neurofibromatosis Type 1‐Related Symptomatic Plexiform Neurofibromas

Annals of Neurology, EarlyView.
Objective Mitogen‐activated protein kinase kinase inhibitors have shown promising results in treatment of plexiform neurofibromas in neurofibromatosis type 1 patients, but data in adults are limited. The aim of this phase 2 study was to investigate the efficacy and safety of trametinib in adults with neurofibromatosis type 1.
D. Christine Noordhoek, David F. Hanff, Pim J. French, Sarah A. van Dijk, Erik A.C. Wiemer, Olivier C. Manintveld, Martin J. van den Bent, Walter Taal   +7 more
wiley   +1 more source

Clinical–Radiological Spectrum of Cerebral Amyloid Angiopathy‐Related Inflammation

Annals of Neurology, EarlyView.
Objective To identify clinical and radiological features of cerebral amyloid angiopathy‐related inflammation (CAA‐ri), and compare these features with those of sporadic CAA, to improve the understanding, diagnosis, and clinical care of CAA‐ri. Methods We retrospectively reviewed routine clinical data from 37 patients with CAA‐ri and 158 patients with ...
Larysa Panteleienko, Gargi Banerjee, Dermot Mallon, Kitti Thiankhaw, Rupert Oliver, Victoria Harvey, Gareth Ambler, Michael Zandi, Hans Rolf Jäger, David J. Werring   +9 more
wiley   +1 more source

Asymptomatic Space-Occupying Lesions of the Kidney [PDF]

, 1977
Erich K. Lang
openalex   +1 more source

Human interparietal bones: Examination of existing classification schemes and development of a graphic library depicting variations

The Anatomical Record, EarlyView.
Examples from the graphic library depicting morphologies of interparietal bones, ossicles at lambda, mendosal sutures, and intrasutural ossicles. Abstract Due to its complex ossification during development, the superior region of the human occipital bone is a frequent site of supernumerary bones known as interparietal bones.
Melissa D. Clarkson, Rhian R. Dunn, Joseph T. Hefner, Holly A. Long, Micayla C. Spiros   +4 more
wiley   +1 more source

Ultrastructure of gonococci in acute, chronic, and asymptomatic gonorrhoea. [PDF]

, 1976
N M Ovcinnikov, V V Delektorskij, Г. А. Дмитриев   +2 more
openalex   +1 more source

Efficacy and Safety of Dotinurad Versus Febuxostat for the Treatment of Gout: A Randomized, Multicenter, Double‐Blind, Phase 3 Trial in China

Arthritis &Rheumatology, EarlyView.
Objective Dotinurad is a selective urate reabsorption inhibitor that reduces serum urate levels. We compared the efficacy and safety of dotinurad with febuxostat in Chinese patients with gout. Methods This phase 3, multicenter, randomized, double‐blind, parallel‐group study randomly allocated (1:1) eligible patients with gout to receive oral dotinurad ...
Jia Sun, Yu Wang, Yongjing Cheng, Dongmei Guo, Jiankang Hu, Dongzhou Liu, Zhengnan Gao, Changgui Li, Yibing Lu, Xiaodan Kong, Yu Liu, Zhenyu Jiang, Bin Yi, Hongfeng Zhang, Baijie Xu, Shihao Yu, Rieko Kokan, Kohei Ishikawa, Mikiko Kawakatsu, Zhuoli Zhang   +19 more
wiley   +1 more source

B-MODE SONOGRAPHY AS A SCREENING PROCEDURE FOR ASYMPTOMATIC CAROTID BRUITS [PDF]

, 1975
Richard D. Anderson, David F. Powell, Jiri J. Vitek   +2 more
openalex   +1 more source