Results 151 to 160 of about 66,910 (298)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

RETRACTION: Downregulation of SUMO2 inhibits hepatocellular carcinoma cell proliferation, migration and invasion

FEBS Open Bio, EarlyView.
RETRACTION: J. Chen, C. Chen, Y. Lin, Y. Su, X. Yu, Y. Jiang, Z. Chen, SY. Ke, SZ. Lin, L. Chen, Z. Zhang, and T. Zhang, “Downregulation of SUMO2 inhibits hepatocellular carcinoma cell proliferation, migration and invasion,” FEBS Open Bio 11, no. 6 (2021): 1771–1784. https://doi.org/10.1002/2211-5463.13173. The above article, published online on 14 May
wiley   +1 more source

Efficacy of Intermittent Theta‐Burst Stimulation for Prolonged Disorders of Consciousness: A Prospective, Randomized, Controlled Trial

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Emerging evidence suggests that low‐frequency neural oscillations are dynamically regulated by consciousness levels, with the recovery of low cortical activity potentially serving as a neurophysiological substrate for conscious emergence. Targeted enhancement of these low‐frequency rhythms in patients with disorders of consciousness
Chuan Xu, Jun Hu, Qianqian Wu, Min Wu, Yamei Yu, Hangcheng Li, Jian Gao, Jingqi Li, Nai Ding, Jie Yu, Benyan Luo   +10 more
wiley   +1 more source

Precision banding technique for arterial steal syndrome in a patient with chronic kidney disease on hemodialysis: A case report. [PDF]

J Vasc Surg Cases Innov Tech
Arriaga-Verastegui CA, Pintado-Guevara CA, Sarmiento-Falen J, Vetanzo-Sánchez G, Zavaleta-Corvera C.   +4 more
europepmc   +1 more source

Normal‐Appearing White Matter Injury Mediates Chronic Deep Venous Hypoxia and Disease Progression in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore how cerebral hypoxia and Normal‐Appearing White Matter (NAWM) integrity affect MS lesion burden and clinical course. Methods Seventy‐nine MS patients, including 13 clinically isolated syndrome (CIS) patients and 66 relapsing–remitting multiple sclerosis (RRMS) patients, and 44 healthy controls (HCs) were recruited from ...
Xinli Wang, Huiying Wang, Zhizheng Zhuo, Ai Guo, Ke Lv, Decai Tian, Chao Chai, Yunyun Duan, Shuang Xia   +8 more
wiley   +1 more source

Minimally Clinically Important Difference of the Clinical Assessment Scale in Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The Clinical Assessment Scale in Autoimmune Encephalitis (CASE) tracks disease severity in autoimmune encephalitis (AE), but no threshold for significant change exists. We aimed to determine the minimally clinically important difference (MCID) for CASE.
Yihui Goh, Yoon Hee Shin, Soo Hyun Ahn, Su Yee Mon, Soo Jean Shin, Woo‐Jin Lee, Yoonhyuk Jang, Myoung‐Jin Jang, Soon‐Tae Lee   +8 more
wiley   +1 more source

Case Report: Life-threatening pulmonary haemorrhage following hybrid VSD closure and pulmonary artery de-banding: major aortopulmonary collaterals as a hidden danger. [PDF]

Front Cardiovasc Med
Krasic S, Dizdarevic I, Topic V, Rodic M, Djordjevic N, Vukomanovic V.   +5 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

Balancing Demineralisation and Collagen Integrity: A Nanoscale Analysis of Etching Time in Human Dentin. [PDF]

Int Dent J
Alzubaidi W, Ganss E, Vaez M, Neshatian M, Aguayo S, Somogyi-Ganss E, Bozec L.   +6 more
europepmc   +1 more source

<i>Chironomus</i> sp. J - an elusive species from the <i>Chironomus plumosus</i> (Linnaeus, 1758) sibling-species group (Diptera, Chironomidae). [PDF]

Comp Cytogenet
Golygina VV.
europepmc   +1 more source