Results 241 to 250 of about 113,624 (330)

Scoliosis in spinal muscular atrophy in the era of disease-modifying therapy: a scoping review. [PDF]

Neurol Sci
Gnazzo M, Pisanò G, Piccolo B, Turco EC, Esposito S, Pera MC.   +5 more
europepmc   +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

Neonatal spinal muscular atrophy with brain magnetic resonance imaging hypersignal: a case report. [PDF]

Front Pediatr
Jieda X, Yang C, Wu Y, Zhang R, Xu W, Dong W.   +5 more
europepmc   +1 more source

Neural circuitry of rapid eye movement sleep homeostasis: Mechanistic insights and pathological implications

Sleep Research, EarlyView.
Abstract Rapid eye movement (REM) sleep is a unique brain state crucial for emotion, memory, and plasticity. Unlike well‐understood non‐REM (NREM) sleep homeostasis, REM sleep homeostasis remains less clearly defined. This review highlights recent progress in understanding REM sleep homeostasis, focusing on its neurophysiological markers, neural ...
Ting He
wiley   +1 more source

Spinal Muscular Atrophy: Present State

, 2001
H. Schmalbruch, Georg Haase
openalex   +2 more sources

Adiponectin and Leptin-Considerations in Adult Patients with Spinal Muscular Atrophy Type 3. [PDF]

Diagnostics (Basel)
Miletić M, Stević Z, Perić S, Tančić Gajić M, Rakočević J, Stojanović M, Marković B, Žarković M.   +7 more
europepmc   +1 more source

Serum lipids and anticonvulsants [PDF]

, 1982
Berlit, Peter, Heuck, C. C., Krause, Klaus-Henning, Schellenberg, Bernhard   +3 more
core  

Nanozymes in Reactive Oxygen Species‐Dependent Diseases: From Design and Preclinical Studies to Clinical Translation Prospects

Small Structures, EarlyView.
Nanozymes emerge as promising therapeutic agents for reactive oxygen species (ROS)‐dependent diseases, offering advantages over traditional biocatalysts through enhanced stability, tunability, and targeting capabilities. This review explores their mechanisms, design strategies, and clinical progress, emphasizing precision medicine potential.
Lihong Zhou, Jingyu Yan, Chenying Cui, Yurong Xu, Kaifang Zhang, Meijun Du, Zhuowei Zhang, Xiuping Wu, Bing Li   +8 more
wiley   +1 more source

Spinal muscular atrophy is also a disorder of spermatogenesis. [PDF]

Orphanet J Rare Dis
Magot A, Reignier A, Binois O, Bedat-Millet AL, Davion JB, Debergé L, Ghorab K, Guyant L, Laheranne É, Laforet P, Lefeuvre C, Mallaret M, Michaud M, Omar C, Nadaj-Pakleza A, Nicolas G, Noury JB, Pegat A, Péré M, Salort-Campana E, Sole G, Spinazzi M, Tard C, Vuillerot C, Péréon Y.   +24 more
europepmc   +1 more source