Results 171 to 180 of about 342,419 (394)

Phospholipid composition of tissues in calves suffering from nutritional muscular dystrophy [PDF]

, 1968
Ritva Poukka
openalex   +1 more source

Integrated Modeling of Digital‐Motor and Clinician‐Reported Outcomes Using Item Response Theory: Towards Powerful Trials for Rare Neurological Diseases

CPT: Pharmacometrics &Systems Pharmacology, EarlyView.
ABSTRACT Robust and highly sensitive outcomes are crucial for small trials in rare diseases. Combining different outcome types might improve sensitivity to identify disease severity and progression, yet innovative methodologies are scarce. Here we develop an Item Response Theory framework that allows integrated modeling of both continuous and ...
Alzahra Hamdan, Andreas Traschütz, Lukas Beichert, Xiaomei Chen, Cynthia Gagnon, Bart P. van de Warrenburg, Filippo M. Santorelli, Nazlı Başak, Giulia Coarelli, Rita Horvath, Stephan Klebe, PROSPAX consortium, EVIDENCE‐RND consortium, Rebecca Schüle, Andrew C. Hooker, Matthis Synofzik, Mats O. Karlsson   +16 more
wiley   +1 more source

Alpha-hydroxybutyrate dehydrogenase activity in sex-linked muscular dystrophy [PDF]

, 1966
H. A. Johnston, J. H. Wilkinson, Wendy A. Withycombe, Samuel Raymond   +3 more
openalex   +1 more source

State‐of‐the‐Art on Model‐Informed Drug Development Approaches for Pediatric Rare Diseases

CPT: Pharmacometrics &Systems Pharmacology, EarlyView.
ABSTRACT Pediatric rare diseases present unique challenges for drug development due to small patient populations, ethical constraints on clinical trial design, and limited prospectively defined natural history data. Model‐Informed Drug Development (MIDD) has emerged as a powerful paradigm to address these challenges by leveraging quantitative methods ...
Rajesh Krishna, Amitava Mitra, Matthew L. Zierhut, Lilly East, Chandra Durairaj   +4 more
wiley   +1 more source

Production of Muscular Dystrophy in Pigs by Feeding Cottonseed Oil [PDF]

, 1961
Paul Lindberg, K. Orstadius
openalex   +1 more source

Transforming Pediatric Rare Disease Drug Development: Enhancing Clinical Trials and Regulatory Evidence With Virtual Patients

CPT: Pharmacometrics &Systems Pharmacology, EarlyView.
ABSTRACT Drug development in pediatric rare diseases is complicated by practical and ethical constraints on clinical trial design, stemming from small, highly heterogeneous, and vulnerable patient populations. Virtual patients (VPs) created with machine‐learning (ML), mechanistically driven computational approaches, or hybrids thereof, have the ...
Fianne Sips, Marco Virgolin, Giuseppe Pasculli, Federico Reali, Alessio Paris, Annette Janus, Yann Godfrin, Daniel Röshammar, Luca Marchetti, Jane Knöchel   +9 more
wiley   +1 more source

DNA diagnostic tests in Xp21 dystrophy families for prenatal diagnosis

The Turkish Journal of Pediatrics, 1998
Duchenne and Becker muscular dystrophies are X-linked genetic disorders characterized by dystrophin gene defects. We have studied 250 families with Duchenne and Becker muscular dystrophies (D/BMD) by molecular genetic methods since 1992.
P Dinçer, H Topaloğlu, S Ayter
doaj  

Modeling and Simulation Identifies Endocytosis Uptake Rate and Fraction Unbound as Important Predictors of Oligonucleotide Pharmacokinetics

CPT: Pharmacometrics &Systems Pharmacology, EarlyView.
ABSTRACT Therapeutic oligonucleotides (TOs) represent an emerging modality, which offers a promising alternative treatment option, particularly for intracellular targets. The two types of TOs, antisense oligonucleotides (ASO) and small interfering RNAs (siRNAs), distribute highly into tissues, especially into the liver and the kidneys.
Felix Stader, Abdallah Derbalah, Adriana Zyla, Cong Liu, Iain Gardner, Armin Sepp   +5 more
wiley   +1 more source

Some Enzyme Studies in Muscular Dystrophy [PDF]

, 1962
R. J. Pennington
openalex   +1 more source

Nipocalimab Dose Selection in Generalized Myasthenia Gravis

CPT: Pharmacometrics &Systems Pharmacology, EarlyView.
Model‐Informed Nipocalimab Dose Selection for Generalized Myasthenia Gravis. ABSTRACT Nipocalimab is a fully human immunoglobulin G (IgG)1 monoclonal antibody (mAb) designed to selectively block the IgG binding site of neonatal fragment crystallizable receptor (FcRn) to inhibit IgG recycling and decrease circulating IgG, including pathogenic IgG ...
Belén Valenzuela, Martine Neyens, Yaowei Zhu, Sindhu Ramchandren, Anne‐Gaëlle Dosne, Jocelyn H. Leu, Ruben Faelens, Leona E. Ling, Juan‐José Pérez‐Ruixo   +8 more
wiley   +1 more source