Results 271 to 280 of about 51,598 (348)

Therapeutic Effects of Nizubaglustat in a Mouse Model of GM2 Gangliosidosis

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Nizubaglustat is a novel selective inhibitor of glucosylceramide synthase (GCS) and the non‐lysosomal glucocerebrosidase (NLGase, GbA2) with brain penetrant properties. It is currently in clinical development as an oral treatment for rare lysosomal storage diseases with neurological involvement. One such disease group called GM2 gangliosidosis,
Kyle Landskroner, Kshitiz Singh, Melissa Mitchell, Jagdeep S. Walia   +3 more
wiley   +1 more source

Real-world use of botulinum toxin-A for post-stroke spasticity in the Netherlands: a retrospective claims study. [PDF]

J Rehabil Med
Van Wijk M, Verhoeven M, Lysen TS, Van Ballegooijen H, Geurts ACH.   +4 more
europepmc   +1 more source

CDG due to Defective Membrane Transporters: Update

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Congenital disorders of glycosylation are genetic defects in the glycoprotein and glycolipid glycan assembly and attachment. Some 200 CDG have been reported since the first clinical description in 1980. Most CDG are enzymatic deficiencies, but 13 (6.5%) are defects in the ER, Golgi apparatus (GA), and plasma membrane transporters.
D. Quelhas, C. R. Ferreira, J. Jaeken
wiley   +1 more source

Artificial Intelligence in Managing Spasticity with Botulinum Toxin Type A-Insights from an Exploratory Pilot Investigation: The AIMS Study. [PDF]

Toxins (Basel)
Filippetti M, Di Censo R, Arcari L, Schiavariello MC, Battaglia M, Facciorusso S, Spina S, Antonucci L, Santamato A, Baricich A, Smania N, Picelli A.   +11 more
europepmc   +1 more source

A Multisystem Perspective of Pediatric Cell Trafficking Disorders: Within the Cells, Beneath the Signs

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Cell trafficking disorders(CTDs) are rare, heterogeneous inherited conditions marked by impaired intracellular transport mechanisms such as vesicular trafficking, cytoskeletal dynamics, and organelle interactions. Although clinical awareness is increasing, CTDs are often underdiagnosed due to phenotypic overlap with mitochondrial, lysosomal ...
Merve Yoldaş Çelik, Burcu Köşeci, Ezgi Burgaç, Kanay Yararbaş, Tamer Çelik, Esra Sarıgeçili, Habibe Koç Uçar   +6 more
wiley   +1 more source

Advancements in Understanding Spasticity: A Neuromusculoskeletal Modeling Perspective. [PDF]

J Clin Med
Shourijeh MS, Stampas A, Chang SH, Korupolu R, Francisco GE.   +4 more
europepmc   +1 more source

Hypoaminoacidemia and Pyroglutamic Aciduria: Potential Biomarkers in Malnutrition‐Related Hyperammonemia

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Hyperammonemia is a medical emergency, and the cause must be identified quickly in order to treat appropriately. Malnutrition is a known risk factor for hyperammonemia; however, there are limited reliable lab indicators used to identify malnutrition.
M. M. Crenshaw, O. M. D'Annibale, V. Martucci, S. Gracie, A. Kochhar, J. Stansauk, A. Larson, P. Baker II, C. Peck, T. Wood, A. El‐Gharbawy, S. McCandless, M. K. LoPiccolo   +12 more
wiley   +1 more source

The Soleus H-Reflex as a Biomarker of Post-Injury Spasticity in Spinal Cord Injury: A Conceptual Pilot Study. [PDF]

NeuroRehabilitation
Bourgeois H, Genet H, MacMahon M, Richard-Denis A, Mac-Thiong JM, de Beaumont L, Barthelemy D.   +6 more
europepmc   +1 more source

Efficacy and Safety of IncobotulinumtoxinA for Treatment of Sialorrhea: A Multicenter, Phase 3 Study in Japan

Movement Disorders Clinical Practice, Volume 13, Issue 1, Page 120-130, January 2026.
This study demonstrated significant treatment efficacy and safety of incobotulinumtoxinA injection in Japanese patients with chronic sialorrhea caused by Parkinson's disease and other neurological conditions. Suppression of salivary secretion and improvement in drooling symptoms were also observed throughout 48 weeks.
Nobutaka Hattori, Yohei Mukai, Noriko Nishikawa, Kazuko Hasegawa, Masahiko Tomiyama, Yasuyoshi Kimura, Yoshio Tsuboi, Ryosuke Takahashi, Ryota Nakamura, Yuishin Izumi, Hirohisa Watanabe, Morinobu Seki, Kenji Sekiguchi, Shohei Tateishi, Yusaku Matsushita, Yusaku Nakamura   +15 more
wiley   +1 more source