Results 231 to 240 of about 25,002 (280)

Acute Airway Crisis in Mucopolysaccharidosis VI: Management Challenges. [PDF]

Diagnostics (Basel)
Tulebayeva A, Gadepalli C, Sharipova M.
europepmc   +1 more source

Living Crystallization‐Driven Self‐Assembly: Entering an Era of Functional Customization

Aggregate, Volume 7, Issue 7, July 2026.
Living CDSA achieves fine regulation of nanostructures when adopting block copolymers as basic units. Researchers can realize functional customization by means of intrinsic design, exogenous modification, and surface engineering. The developed multifunctional nanomaterials find wide applications in catalysis, optoelectronics, and biomedicine.
Chenchen Gao, Yao Lu, Zhenyan Ji, Peiwen Wang, Xiaomin Cai, Jiawei Tao, Huibin Qiu   +6 more
wiley   +1 more source

Merging evans syndrome with mucopolysaccharidosis type II: a case report. [PDF]

Front Pediatr
Wang X, Zhang J, Tang Y, Liu C, Hu P, Yang Y, Chen H.   +6 more
europepmc   +1 more source

Amyloid exacerbates tau and alpha‐synuclein pathologies, behavioral impairments, and neuroinflammation in a mixed dementia model

Alzheimer's &Dementia, Volume 22, Issue 7, July 2026.
Abstract INTRODUCTION Neurodegenerative diseases often involve overlapping alpha‐synuclein (asyn), amyloid beta, and tau proteinopathies, yet the mechanisms, impact, and directionality of their interactions remain unclear. METHODS We induced brain‐wide neuronal asyn/tau pathologies via viral expression of wild‐type asyn, mutant asynE46K, mutant ...
Benjamin E. Rabichow, Lacey Nixon, Lauren E. Tallant, Katelin A. Gibson, David G. Nascari, J. Hudson Barnett, Nashali Massa, John D. Fryer   +7 more
wiley   +1 more source

Taliglucerase Alfa Reduces Amyloid-β Burden by Restoring Autophagic Pathways in a Neuronal Model of Alzheimer's Disease. [PDF]

Neurochem Res
Özkurt Ç, Köse S, Karasu Ç, Kortholt A, Kelicen-Uğur P.   +4 more
europepmc   +1 more source

GMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase Deficiency. [PDF]

J Inherit Metab Dis
Damiano C, Tarallo A, Gragnaniello V, Strollo S, Fecarotta S, Tuzzi MR, Polishchuk E, Montefusco S, Valanzano A, Assunto A, Minopoli N, Casa RD, Polishchuk R, Groen SLMI', Medina DL, Bertini E, Carrozzo R, Emmerich J, Schoser B, Pijnappel WWMP, Parenti G.   +20 more
europepmc   +1 more source

Topiramate-Responsive Myoclonic Status Epilepticus in a Child with Progressive Myoclonus Epilepsy Due to Neuronal Ceroid Lipofuscinosis Type 8: A Case Report. [PDF]

Yonago Acta Med
Tsuchie H, Kawanami Y, Yoshino G, Okanishi T, Maegaki Y.   +4 more
europepmc   +1 more source

A practical framework to approach the development and evaluation of patient registries for rare diseases. [PDF]

Orphanet J Rare Dis
Vaishnaw MS, Richesson R.
europepmc   +1 more source

Lysosomal checkpoints in renal autoimmunity: from antigen processing to metabolic-immune crosstalk. [PDF]

Front Immunol
Fu Z, Xu X.
europepmc   +1 more source