Results 171 to 180 of about 377,857 (257)

<i>MYBPC1</i>-associated congenital myopathy with tremor: further delineation of the clinical and pathological phenotype in the first Italian case. [PDF]

Front Genet
Velardo D, Alberti C, Gagliardi D, Del Bo R, Ciscato P, Napoli L, Zanotti S, Ripolone M, Croce MG, Cosentino G, Tumminello G, Locatelli M, Comi GP, Corti S, Ravaglia S, Ronchi D.   +15 more
europepmc   +1 more source

Clinical Validation of Plasma p‐217tau in Neurological Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma p‐217tau is a minimally invasive but specific biomarker for diagnosing Alzheimer's disease (AD). However, its disease specificity remains to be clinically evaluated. We validated the reliability of the p‐217tau biomarker in 12 other neurological diseases.
Takeshi Kawarabayashi, Takumi Nakamura, Ryoma Takahashi, Tetsuya Ueda, Seiji Kinoshita, Chikage Uchida, Takashi Sugawara, Kentaro Hashimoto, Kunihiko Ishizawa, Masakuni Amari, Hiroo Kasahara, Yoshio Ikeda, Masamitsu Takatama, Mikio Shoji   +13 more
wiley   +1 more source

Epidermoid Cyst of the Gingiva: A Rare Case Report and Literature Review. [PDF]

Clin Case Rep
de Arruda JAA, Oliveira SR, Ribeiro MFA, Horta MCR, Souto GR.   +4 more
europepmc   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Reliability and minimal clinically important differences of gait characteristics in peripheral vestibular disorders. [PDF]

Front Neurol
Kollmansperger S, Decker J, Jahn K, Möhwald K, Wuehr M.   +4 more
europepmc   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Interpretable Two-Stage Machine Learning for Early and Full Drug Release Prediction in PLGA Microspheres. [PDF]

Pharmaceuticals (Basel)
Song Y, Bashyal S, Cho HJ, Woo MR, Kim JO, Hwang D.   +5 more
europepmc   +1 more source

Fanfiction: A tool for Community Building, Intersectional Writing and Slow Media Consumption

“Fanfiction: A tool for Community Building, Intersectional Writing and Slow Media Consumption” studies the way community building, intersectional writing and media consumption are present and affected by fanfiction. The thesis used a structured online survey conducted in a feminist manner, that gathers the reports and lived experiences of three ...
openaire   +1 more source

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

Slow motion videography in Parkinson's disease: unraveling masked phenomenology. [PDF]

BMC Neurol
Wali GM, Wali G.
europepmc   +1 more source