Results 201 to 210 of about 3,626,240 (269)

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

Evaluation of accuracy of platelet rich plasma preparation devices for cardiac surgery: A prospective, randomized, single blinded study. [PDF]

J Extra Corpor Technol
Garrison L, Nicks D, Nicks S, Green J, Pham H, Wysocki S.   +5 more
europepmc   +1 more source

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos, Morgan C. Devore, Christina Lam, Courtney Park, Sanjay Bidichandani, David R. Lynch   +5 more
wiley   +1 more source

Smartphone-Based Field Assessment of Trunk Stability and Its Relationship With Whole-Body Balance in Older Adults: Cross-Sectional Study. [PDF]

JMIR Aging
De Los Ríos-Calonge J, Juan-Recio C, Prat-Luri A, Miralles-Iborra A, Elvira JL, Barbado D, Vera-Garcia FJ.   +6 more
europepmc   +1 more source

Needle-Free Injection Enhances the Immunogenicity and Antitumor Efficacy of Whole-Cell Tumor Vaccines. [PDF]

Vaccines (Basel)
Chang CY, Kuan YD, Tai JA, Ju N, Li YL, Shimamura M.   +5 more
europepmc   +1 more source

Canine Tooth Microbiome Gingival Index: a new microbiome-derived measure of gingival health validated by nutritional intervention. [PDF]

Front Vet Sci
Hollar R, Cochrane CY, Green N, Coffman L, Scherl D, Badri DV.   +5 more
europepmc   +1 more source

Effect of body position on cerebral perfusion: a comparison of supine and seated positions assessed using conventional and upright CT perfusion. [PDF]

Eur Radiol Exp
Mizutani K, Yamada Y, Yamada M, Yokoyama Y, Kosugi K, Yoshida K, Takahashi S, Akiyama T, Toda M, Jinzaki M.   +9 more
europepmc   +1 more source

Neural focalization of dorsolateral prefrontal cortex and the inferior parietal lobule is associated with inhibitory control performance in adolescence. [PDF]

Dev Cogn Neurosci
Meredith WJ, Guassi Moreira JF, Leal AM, Saragosa-Harris N, Ninova E, Waizman Y, Gaines E, Karlsgodt KH, Silvers JA.   +8 more
europepmc   +1 more source