Results 201 to 210 of about 1,789,974 (346)

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

Internal Consistency and Reliability of the Filipino Gross Motor Functional Classification System - Expanded and Revised. [PDF]

Acta Med Philipp
Tan KMC, Leochico CFD, Bundoc JR, Ching Bing-Agsaoay DD.   +3 more
europepmc   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Factor Structure, Internal Consistency, and Measurement Invariance of the Eating Pathology Symptoms Inventory (EPSI) in Transgender and Gender-Diverse Adults. [PDF]

Int J Eat Disord
Nagata JM, Otmar CD, Lopez A, Compte EJ, Lavender JM, Brown TA, Forbush KT, Flentje A, Lubensky ME, Obedin-Maliver J, Lunn MR.   +10 more
europepmc   +1 more source

Spanish validation of the pure procrastination scale: dimensional structure, internal consistency, temporal stability, gender invariance, and relationships with personality and satisfaction with life. [PDF]

Front Psychol, 2023
Guilera G, López-Martínez MD, Barrios M, Hidalgo MD, Steel P, Gómez-Benito J.   +5 more
europepmc   +1 more source

Construction, Factor Structure, and Internal Consistency Reliability of the Hospital Physical Therapy Perceived Satisfaction Questionnaire (H-PTPS)

, 2020
Manuel Albornoz‐Cabello, José Manuel Pérez‐Mármol, Ma de los Ángeles Cardero-Durán, Cristo Jesús Barrios-Quinta, Luís Espejo-Antúnez   +4 more
openalex   +1 more source

Location‐Specific Hematoma Volume Predicts Early Neurological Deterioration in Supratentorial ICH

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Early neurological deterioration (END) adversely affects outcomes in patients with intracerebral hemorrhage (ICH). This study aimed to determine the location‐specific hematoma volumes for END in supratentorial ICH patients. Methods We retrospectively analyzed supratentorial ICH patients presenting from two prospective cohorts.
Zuoqiao Li, Guilin Meng, Zijie Wang, Xiao Hu, Jing Cheng, Chu Chen, Tiannan Yang, Jiaxin Luo, Zizhen Meng, Xueyun Liu, Qi Li   +10 more
wiley   +1 more source

Construct Validity, Dimensionality, and Internal Consistency of Psycho-social Questionnaires in Indian Young Adults: A Cross-sectional EFA-PCA-based Study. [PDF]

Ann Neurosci
Brahmi M, Soni D, Ali A, Sharma G, Kumar J.   +4 more
europepmc   +1 more source

Improving the accuracy and internal consistency of regression-based clustering of high-dimensional datasets. [PDF]

Stat Appl Genet Mol Biol, 2023
Zhang B, He J, Hu J, Chalise P, Koestler DC.   +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