Results 201 to 210 of about 18,209,937 (340)

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter, Sophia Y. Zhao, Madeline Babros, Ruchi Garg, Matthew Deardorff, Franklin Moser, Tyler Mark Pierson   +15 more
wiley   +1 more source

Correlations between blood group and Rh factor in families and autism spectrum disorder: A comprehensive analysis. [PDF]

Sci Rep
Al-Salihy AAS.
europepmc   +1 more source

Blood Groups and Transfusion

, 1944
Debi Chatterji
openalex   +2 more sources

Some observations on the blood factor Rh^Aof the Rh-Hr blood group system [PDF]

, 1959
Lester J. Unger, Alexander S. Wiener
openalex   +1 more source

Histone Deacetylase 6 Brain PET in Amyotrophic Lateral Sclerosis‐Frontotemporal Spectrum Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective [18F]EKZ‐001 is a positron emission tomography (PET) tracer targeting histone deacetylase 6 (HDAC6), an enzyme responsible for intracellular transport and clearance of misfolded proteins. HDAC6 modulation is a promising treatment strategy in neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS).
Greet Vanderlinden, Charles Carron, Donatienne Van Weehaeghe, Joke De Vocht, Fouke Ombelet, Pegah Masrori, Caro De Weerdt, Rebecca E. James, Lauren T. Evans, Frederick A. Schroeder, Jacob M. Hooker, Michel Koole, Janice E. Kranz, Tonya M. Gilbert, Philip Van Damme, Koen Van Laere   +15 more
wiley   +1 more source

Establishment and Clinical Application of Rh Blood Group Bank in the East China Region. [PDF]

Int J Gen Med
Jin Y, Fu X, Xie S, Liu Z, Xu Z, Wang M, Wang Y, Lu R, Wang L.   +8 more
europepmc   +1 more source

Blood Groups of Brazilian Indians [PDF]

, 1951
A. M. Pantin, P. C. JUNQUEIRA
openalex   +1 more source

Myostatin Levels in SMA Following Disease‐Modifying Treatments: A Multi‐Center Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study investigated myostatin levels in SMA patients receiving disease‐modifying therapies (DMTs) to understand their relationship with treatment duration and functional status. Methods Our study includes both cross‐sectional and longitudinal analyses of myostatin levels in treated SMA patients.
Fiorella Piemonte, Sara Petrillo, Anna Capasso, Giorgia Coratti, Adele D'Amico, Michela Catteruccia, Maria Carmela Pera, Concetta Palermo, Marika Pane, Emanuela Abiusi, Gianpaolo Cicala, Marianna Villa, Chiara Bravetti, Chiara Arpaia, Agnese Novelli, Salvatore Falqui, Stefania Fiori, Giulia Napoli, Silvia Baroni, Francesco Danilo Tiziano, Enrico Bertini, Giacomo Comi, Stefania Corti, Eugenio Mercuri   +23 more
wiley   +1 more source

Association Between Rhesus and ABO Blood Group Types and Their Impact on Clinical Outcomes in Critically Ill Patients with COVID-19: A Multi-Center Investigation [Letter]

Infection and Drug Resistance
Anna Lystia Poetranto, Hasta Handayani Idrus, Wiwit Nurwidyaningtyas Center of Biomedical Research, National Research and Innovation Agency, Bogor, West Java, IndonesiaCorrespondence: Anna Lystia Poetranto, Center of Biomedical Research, National ...
Poetranto AL, Idrus HH, Nurwidyaningtyas W   +2 more
doaj  

Relationship between ABO blood group antigens and Rh factor with breast cancer: A systematic review and meta-analysis. [PDF]

Oncotarget
Alchazal R, Zaitoun KJ, Al-Qudah M, Zaitoun G, Taha AM, Saleh O, Alqudah M, Abuawwad M, Taha M, Aldalati AY.   +9 more
europepmc   +1 more source