Results 241 to 250 of about 91,129 (293)

MDSGene Systematic Review of Common Forms of Dominant Hereditary Spastic Paraplegia: Novel Insights

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder characterized by progressive spasticity and lower limb weakness. The most common forms of autosomal dominant HSP are caused by pathogenic variants in SPAST (SPG4 or HSP‐SPAST), ATL1 (SPG3A or HSP‐ATL1), and REEP1 (SPG31 or HSP‐REEP1).
Ce Kang, Rajasumi Rajalingam, Zachary Walls, Jana Huang, Christine Sun, Laura I. Rudaks, Dennis Yeow, Ashar Rasheed, Jenny W. Zhang, Moath Hamed, Marianthi Breza, Susen Schaake, Chetan Vekhande, Jason Massa, Robyn E. Massa, Aakash Shetty, Carolyn M. Sue, Franca Cambi, Oksana Suchowersky, Franca Vulinovic, Sonja Petkovic, Christine Klein, Katja Lohmann, Connie Marras, Kishore R. Kumar   +24 more
wiley   +1 more source

Use of deep learning-based NLP models for full-text data elements extraction for systematic literature review tasks. [PDF]

Sci Rep
Du J, Wang D, Lin B, He L, Huang LC, Wang J, Manion FJ, Li Y, Cossrow N, Yao L.   +9 more
europepmc   +1 more source

What are comparable corpora?

, 2003
openaire   +1 more source

FXTAS and the Spectrum of FMR1 Premutation‐Associated Phenotypes in Latin America: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Fragile X–associated tremor/ataxia syndrome (FXTAS) is a late‐onset neurodegenerative disorder caused by FMR1 premutation expansions (55–200 CGG repeats). Although well described in populations of predominantly European ancestry, FXTAS remains poorly characterized in Latin America due to limited awareness, restricted access to ...
Amy Schmidmajer, Salomón Páez‐García, Santiago Martínez, Jacobo Ramírez‐Triana, Kevin O'Hara‐Veintimilla, Andrés Ricaurte‐Fajardo, Catalina Cerquera‐Cleves   +6 more
wiley   +1 more source

A pipeline for stochastic and controlled generation of realistic language input for simulating infant language acquisition. [PDF]

Behav Res Methods
Räsänen O, Kocharov D.
europepmc   +1 more source

Exercise attenuates polycystic ovary syndrome development via improved mitochondrial proteostasis. [PDF]

Am J Physiol Endocrinol Metab
Shin C, Chen LW, Hossain MN, Li X, Islam S, Kou Z, Cui Q, de Avila JM, Zhu MJ, Du M.   +9 more
europepmc   +1 more source

Enhancing anti-Müllerian hormone processing reduces preantral follicle survival but spares female reproduction in mice.

Endocrinology
Maskey S, Stocker WA, Alesi LR, Pankhurst MW, Herron-Vellacott HWG, Harrison SG, Spiller CM, Hagg A, Winship AL, Harrison CA, Walton KL.   +10 more
europepmc   +1 more source

Clinical document corpora-real ones, translated and synthetic substitutes, and assorted domain proxies: a survey of diversity in corpus design, with focus on German text data. [PDF]

JAMIA Open
Hahn U.
europepmc   +1 more source

Vibe coding: a new paradigm for biomedical software development. [PDF]

BioData Min
Moore JH, Tatonetti N.
europepmc   +1 more source

Improving biomedical entity linking with generative relevance feedback. [PDF]

Bioinformatics
Shlyk D, Hunter L.
europepmc   +1 more source