Results 241 to 250 of about 1,019,575 (429)

Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype

Clinical Genetics, Volume 103, Issue 2, Page 156-166, February 2023., 2023
Abstract CNOT2 haploinsufficiency underlies a rare neurodevelopmental disorder named Intellectual Developmental disorder with NAsal speech, Dysmorphic Facies, and variable Skeletal anomalies (IDNADFS, OMIM 618608). The condition clinically overlaps with chromosome 12q15 deletion syndrome, suggesting a major contribution of CNOT2 haploinsufficiency to ...
Marcello Niceta, Simone Pizzi, Francesca Inzana, Angela Peron, Somayeh Bakhtiari, Mathilde Nizon, Jonathan Levy, Cecilia Mancini, Benjamin Cogné, Francesca Clementina Radio, Emanuele Agolini, Dario Cocciadiferro, Antonio Novelli, Mustafa A. Salih, Maria Paola Recalcati, Rosangela Arancio, Marianne Besnard, Anne‐Claude Tabet, Michael C. Kruer, Manuela Priolo, Bruno Dallapiccola, Marco Tartaglia   +21 more
wiley   +1 more source

In Vivo Quantification of Creatine Kinase Kinetics in Mouse Brain Using ³¹P-MRS at 7 T. [PDF]

NMR Biomed
Tachrount M, Smart S, Lerch J, Cherix A.
europepmc   +1 more source

Evaluation of a New Procedure for Measuring Serum Creatine Kinase Activity [PDF]

, 1970
J. H. Wilkinson, B Steciw
openalex   +1 more source

Switching Enzyme Replacement Therapy for Late‐Onset Pompe Disease From Alglucosidase Alfa to Cipaglucosidase Alfa Plus Miglustat: Post Hoc Effect Size Analysis of PROPEL

Muscle &Nerve, EarlyView.
A total of 95 ERT‐experienced adults with LOPD were randomized to switch to cipaglucosidase alfa + miglustat or remain on alglucosidase alfa treatment. After 52 weeks, patients remaining on alglucosidase alfa showed worsening or stability for most outcomes, whereas patients who switched to cipaglucosidase alfa + miglustat generally showed stability or ...
Hani Kushlaf, Jordi Díaz‐Manera, Drago Bratkovic, Barry J. Byrne, Kristl G. Claeys, Paula R. Clemens, Mazen M. Dimachkie, Priya S. Kishnani, Pascal Laforêt, Mark Roberts, Benedikt Schoser, Antonio Toscano, Jeff Castelli, Fred Holdbrook, Sheela Sitaraman Das, Mitchell Goldman, Tahseen Mozaffar, on behalf of the PROPEL Study Group   +17 more
wiley   +1 more source

High Creatine Kinase Levels in Viral Myositis: A Case of Rhabdomyolysis-Induced Renal Failure. [PDF]

Am J Case Rep
Baddam S, Thiriveedi M, Haley H.
europepmc   +1 more source

Resistance Artery Creatine Kinase mRNA and Blood Pressure in Humans

HYPERTENSION, 2014
F. Karamat, I. Oudman, C. Ris-Stalpers, G. Afink, R. Keijser, Joseph F. Clark, G. V. van Montfrans, L. Brewster   +7 more
semanticscholar   +1 more source

Atypical Serum Creatine Kinase Isoenzyme Pattern Caused by Complexing of Creatine Kinase-BB with Immunoglobulins G and A [PDF]

, 1979
Evangelia Jockers-Wretou, Elisabeth Plessing   +1 more
openalex   +1 more source

The Role of Repeat Skeletal Muscle Biopsy: Indications, Yield and Outcomes

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Muscle biopsy performed to investigate weakness and/or pain may be nondiagnostic and prompt repeat biopsy. We determined the indications and yield of rebiopsy. Methods Patients who underwent > 1 muscle biopsy (South Australia, 2000–2023) were identified.
Thomas Khoo, Sarah Saxon, Barbara Koszyca, Bernice Gutschmidt, Vidya Limaye   +4 more
wiley   +1 more source

Creatine kinase isoenzyme MB in myocardial infarction: methods compared. [PDF]

, 1977
John Griffiths, Gabriele Handschuh
openalex   +1 more source

Rhabdomyolysis of Infectious Etiology with Creatine Kinase Above One Million: A Case Report. [PDF]

Am J Case Rep
Weber M, Goss W, Hoffer C, Ogunsulire J, Schafer F.   +4 more
europepmc   +1 more source