Results 181 to 190 of about 71,497 (297)

Survey of feeding issues experienced by patients with spinal muscular atrophy type 2 in Japan. [PDF]

J Phys Ther Sci
Uchio Y, Ikai T.
europepmc   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Combinatory Treatment to Alleviate Cellular Stress and Improve Skeletal Muscle Phenotype in Spinal Muscular Atrophy. [PDF]

Circ Res
Zeng W, Kong X, Caudal A, Zhao SR, Alamana C, Melesio J, Ren L, Guzman J, Pang PD, Howell K, Chen KS, Day JW, Wu JC.   +12 more
europepmc   +1 more source

Proteomic Insight Into Alzheimer's Disease Pathogenesis Pathways

PROTEOMICS, EarlyView.
ABSTRACT Alzheimer's disease (AD) is a leading cause of dementia, but the pathogenesis mechanism is still elusive. Advances in proteomics have uncovered key molecular mechanisms underlying AD, revealing a complex network of dysregulated pathways, including amyloid metabolism, tau pathology, apolipoprotein E (APOE), protein degradation ...
Taekyung Ryu, Kyungdo Kim, Nicholas Asiimwe, Chan Hyun Na   +3 more
wiley   +1 more source

Eosinophilic Esophagitis in a 3-Year-Old Girl with Spinal Muscular Atrophy Type 1: The First Reported Case. [PDF]

Pediatr Rep
Marzec A, Jarocka-Cyrta E, Ruskań-Bakun M.   +2 more
europepmc   +1 more source

Feline Spinal Muscular Atrophy [PDF]

Pediatric Research, 2005
openaire   +3 more sources

“I'd rather be in pain than be patronized.” A qualitative study of health care experiences of persons with disabilities

PM&R, EarlyView.
Abstract Background Prior research shows that persons with disabilities (PWD) frequently receive inadequate health care and that physicians are uncomfortable caring for patients with disabilities, both of which may be attributed to the lack of disability education in medical training.
Jessica A. Prokup, Elise M. Pearson, Alan Cuevas Villagomez, Kristyn L. Felman, Amy J. Houtrow, Max B. Hurwitz   +5 more
wiley   +1 more source

Quebec Spinal Muscular Atrophy Newborn Screening Program: The First Year Experience. [PDF]

Int J Neonatal Screen
Groulx-Boivin E, Belzile A, Nguyen CÉ, Gauthier A, Chrestian N, Michaud-Gosselin C, Giguère Y, Berthier MT, Soucy JF, Laberge AM, Oskoui M.   +10 more
europepmc   +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

In utero therapy for spinal muscular atrophy: closer to clinical translation. [PDF]

Brain
Tizzano EF, Lindner G, Chilcott E, Finkel RS, Yáñez-Muñoz RJ.   +4 more
europepmc   +1 more source