Results 211 to 220 of about 1,530,417 (316)

Comprehensive evidence for the pathogenicity of the <i>BRCA2</i> c.7847C>T (p.Ser2616Phe) variant specific to the Japanese population. [PDF]

J Med Genet
Yamazawa K, Ueki A, Kuga A, Hinoi T, Niitsu H, Minatogawa M, Kawano J, Minami S, Okawa M, Takei J, Ichikawa M, Enokido K, Akimaru N, Torii M, Tsuyuki S, Iguchi C, Inoue T, Nakajima T, Watanabe N, Tanoshima M, Harada-Shoji N, Taruno K, Arai M, Murakami F, Ogawa M, Tamura K, Sugano K, Tanakaya K, Inoue S, Murakami H, Nakashima M, Makabe T, Kosaki K, Matsui A.   +33 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

Integration of Serum Neurofilament Light Chain and Cortical Dysfunction Improves Diagnostic Accuracy in ALS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine whether integration of serum neurofilament light chain (NfL) and cortical dysfunction improves diagnostic accuracy in amyotrophic lateral sclerosis (ALS) when applied alongside the Gold Coast criteria (GCC). Methods In this prospective study, 148 participants with suspected ALS were recruited (101 ALS and 47 with ALS ...
Aicee Dawn Calma, Nathan Pavey, Yukiko Tsuji, Amirul Ab Ghapar, Mehdi A.J. van den Bos, Bronwen Orden, Grace Lee, Linda Mekhael, Julie Ryder, Cláudia Santos Silva, David McDonald, Fakhria Kakar, Con Yiannikas, Matthew C. Kiernan, David A. Brown, Parvathi Menon, Steve Vucic   +16 more
wiley   +1 more source

Effects of Repeated Smoking and Quitting Cigarettes on Plasma Concentrations of Clozapine and Its N-Desmethyl and N-Oxide Metabolites in a Japanese Patient With Schizophrenia. [PDF]

Neuropsychopharmacol Rep
Ikawa K, Morikawa N, Sakata M, Horikawa N.   +3 more
europepmc   +1 more source

Marked Long‐Term Improvement in Lung Function in Melanoma Differentiation–Associated Protein 5 Antibody–Positive Dermatomyositis Patients: Experience of a Single‐Center Longitudinal Cohort in North America

Arthritis Care &Research, EarlyView.
Objective The objective of this study was to describe the longitudinal disease course and pulmonary outcomes of North American patients with melanoma differentiation–associated protein 5 (MDA5) antibody–associated dermatomyositis (DM). Methods Thirty patients with MDA5 antibody–associated DM were identified in a single‐center longitudinal cohort of 352
Jenice X. Cheah, Sangmee S. Bae, Tiffany De Leon, Yuna Lee, Rong Guo, David Elashoff, Jennifer Wang, Ani Shahbazian, Christina Charles‐Schoeman   +8 more
wiley   +1 more source

Maternal Genetic Variants and Gestational Duration: A Replication Study in a Japanese Cohort. [PDF]

J Clin Med
Tanabu R, Iino K, Sato M, Nakamura M, Yokoyama M, Tamada Y, Itoh K, Mikami T, Murashita K, Yokoyama Y.   +9 more
europepmc   +1 more source

Retractions in Rheumatology: Trends, Causes, and Implications for Research Integrity

Arthritis Care &Research, EarlyView.
Objective We aimed to describe the trends and main reasons for study retraction in rheumatology literature. Methods We reviewed the Retraction Watch database to identify retracted articles in rheumatology. We recorded the main study characteristics, authors’ countries, reasons for retraction, time from publication to retraction, and trends over time ...
Anna Maria Vettori, Michele Iudici
wiley   +1 more source

Successful endoscopic hemostasis of gastric ulcer bleeding in a low-birth-weight neonate. [PDF]

Clin Endosc
Takami S, Kurihara K, Yoshida R.
europepmc   +1 more source

Clinical Significance of Therapeutic Drug Level Monitoring for Mycophenolate in Patients With Extrarenal Systemic Lupus Erythematosus—A Systematic Review and Meta‐Analysis

Arthritis Care &Research, EarlyView.
Objective Clinical response to mycophenolic acid (MPA) is highly heterogeneous; thus, therapeutic drug level monitoring (TDM) may help improve treatment efficacy. This systematic review and meta‐analysis examined therapeutic ranges for MPA levels associated with better outcomes and safety in patients with systemic lupus erythematosus (SLE ...
Zahraa Qamhieh, Dalia Sriwi, Callie Saric, Tripti Singh, Christie M. Bartels, Shivani Garg   +5 more
wiley   +1 more source

Characterization of Urinary Kidney Injury Biomarker Profiles in Healthy Japanese Subjects With Reference to a Counterpart US Study. [PDF]

Clin Transl Sci
Sambe T, Mizukami T, King NMP, Friedman G, Sultana S, Muto C, Hizue M, Ii Y.   +7 more
europepmc   +1 more source